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
PCDHB17P	54661	broad.mit.edu	37	5	140536963	140536963	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:140536963G>A	ENST00000539533.1	+	1	1387	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K																								GTTCGTCCGCGAGAACAACAG	0.612000													52	169					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130929789	130929789	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:130929789C>T	ENST00000261655.4	-	7	719	c.556G>A	c.(556-558)Gag>Aag	p.E186K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E94K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E94K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	186	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGGGGTTCTCGTTCGGTCCA	0.542000													28	62					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35044942	35044942	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:35044942G>A	ENST00000290374.4	-	2	1179	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	235					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTGATGCAGGGGTAGCGGTTA	0.478000													18	47					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3784083	3784083	+	Silent	SNP	C	C	T	rs141229949		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:3784083C>T	ENST00000245960.5	+	14	2086	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	CDC25B_ENST00000439880.2_Silent_p.A449A|CDC25B_ENST00000340833.4_Silent_p.A422A|CDC25B_ENST00000379598.5_Silent_p.A372A|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Silent_p.A399A	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	463	Rhodanese.				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AACGCGACGCCGAGAGCTTCC	0.627000													26	59					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450511	107450511	+	Silent	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:107450511A>G	ENST00000409382.3	-	3	1645	c.1035T>C	c.(1033-1035)aaT>aaC	p.N345N	ST6GAL2_ENST00000361686.4_Silent_p.N345N|ST6GAL2_ENST00000409087.3_Silent_p.N345N	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	345					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTACCTGCGAATTAATGATGC	0.398000													21	111					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11407720	11407720	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:11407720C>A	ENST00000259089.4	+	6	1013	c.421C>A	c.(421-423)Cca>Aca	p.P141T	BLK_ENST00000529894.1_Missense_Mutation_p.P70T	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	141	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCTTCTTGCTCCAATCAACAA	0.552000													20	65					1.96895e-08	1.98747e-08	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204228404	204228404	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:204228404G>A	ENST00000272203.3	-	8	1305	c.989C>T	c.(988-990)cCg>cTg	p.P330L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P350L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	330	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTCTTCAGGCGGGGGTACCCC	0.617000													17	57					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269880	36269880	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:36269880G>A	ENST00000394571.2	+	6	1018	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	PNPLA1_ENST00000388715.3_Missense_Mutation_p.E245K|PNPLA1_ENST00000312917.5_Missense_Mutation_p.E254K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	340	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ATTCACATGCGAGTCACCTGT	0.557000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	101					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291146	103291146	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:103291146G>A	ENST00000520539.1	-	44	6802	c.6196C>T	c.(6196-6198)Ctt>Ttt	p.L2066F	UBR5_ENST00000521922.1_Missense_Mutation_p.L2060F|UBR5_ENST00000220959.4_Missense_Mutation_p.L2066F	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2066					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.L2066F(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CGGCCAAAAAGATCCTCCTTT	0.363000													79	211					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825111	23825111	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:23825111C>T	ENST00000354639.3	+	18	2558	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L	STK31_ENST00000428484.1_Silent_p.L698L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.L721L|STK31_ENST00000433467.2_Silent_p.L721L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	721							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGGTGGTCTCCTTACAATGA	0.393000													49	147					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144862	25144862	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:25144862G>A	ENST00000453498.1	+	0	403																											GCCAGATAATGGAGCAGTGGT	0.408000													6	43					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541097	12541097	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:12541097G>A	ENST00000301547.5	-	4	2086	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	630					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCTATGCAAGGAACTGAGAGA	0.403000													28	128					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137622874	137622874	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:137622874A>C	ENST00000323760.6	-	11	1288	c.1010T>G	c.(1009-1011)cTg>cGg	p.L337R	CDC25C_ENST00000356505.3_Missense_Mutation_p.L307R|CDC25C_ENST00000348983.3_Missense_Mutation_p.L264R|CDC25C_ENST00000415130.2_Missense_Mutation_p.L264R|CDC25C_ENST00000357274.3_Missense_Mutation_p.L294R|CDC25C_ENST00000514555.1_Missense_Mutation_p.L307R|CDC25C_ENST00000513970.1_Missense_Mutation_p.L337R	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	337	HIV-1 Vpr binding site.|Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTGTCCTCCCAGATACTCATA	0.473000													15	59					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55361005	55361005	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:55361005C>T	ENST00000449076.1	-	5	404	c.272G>A	c.(271-273)gGg>gAg	p.G91E	TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.G91E|TESPA1_ENST00000531122.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	91																	AAAGCTGGTCCCATGGCTGCA	0.483000													5	21					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741355	48741355	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:48741355G>A	ENST00000285238.8	+	10	1301	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	ABCC3_ENST00000427699.1_Silent_p.G407G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	407	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCACTGTGGGGGAAATTGTCA	0.572000													16	78					0	0	1	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229375	90229375	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:90229375C>T	ENST00000390278.2	+	0	215																											CAGGGAAATCCCCTAAGCTCT	0.493000													7	88					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123010131	123010131	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:123010131G>A	ENST00000462833.1	-	18	4368	c.3156C>T	c.(3154-3156)ttC>ttT	p.F1052F	ADCY5_ENST00000491190.1_Silent_p.F710F|ADCY5_ENST00000309879.5_Silent_p.F702F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1052					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGCGGGCCAGGAAGTGAGCGG	0.597000													26	59					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68406070	68406070	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:68406070C>T	ENST00000219334.5	-	3	618	c.15G>A	c.(13-15)acG>acA	p.T5T	SMPD3_ENST00000568373.1_Silent_p.T5T|SMPD3_ENST00000563226.1_Silent_p.T5T	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	5					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)	GAAAGGGGGTCGTGTACAAAA	0.627000													4	17					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338000													4	37					0	0	1	0	0
IL7	3574	broad.mit.edu	37	8	79710406	79710406	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:79710406G>A	ENST00000263851.4	-	2	648	c.48C>T	c.(46-48)atC>atT	p.I16I	IL7_ENST00000520269.1_Silent_p.I16I|IL7_ENST00000379113.2_Silent_p.I16I	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	16					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						ACAGAACAAGGATCAGGGGAG	0.358000													34	53					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769090	88769090	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:88769090C>T	ENST00000444431.1	+	0	3690				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTTGGGAGTCCTCATGTGTAT	0.557000													128	188					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281742	140281742	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:140281742C>T	ENST00000458420.3	+	14	2492	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	768					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.R768W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCGGCGTTTCCGGATTAAGTG	0.567000										HNSCC(16;0.037)			20	48					0	0	1	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107012978	107012978	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:107012978C>T	ENST00000390625.2	-	0	396																											GGTTTTCAGGCTGTTCATTTG	0.507000													52	134					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74842229	74842229	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:74842229G>A	ENST00000290536.5	-	3	404	c.288C>T	c.(286-288)ctC>ctT	p.L96L	M1AP_ENST00000409585.1_Silent_p.L96L|M1AP_ENST00000536235.1_Silent_p.L96L|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein									p.L96L(1)									GTAACATGCGGAGTTCTGAGA	0.473000													31	121					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27677285	27677285	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:27677285C>T	ENST00000260570.3	-	32	3569	c.3465_splice	c.e32-1	p.G1156_splice		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1156					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGAATTTACCCTACAGGGAG	0.522000													20	89					0	0	1	0	0
IFNL1	282618	broad.mit.edu	37	19	39788664	39788664	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:39788664G>A	ENST00000333625.2	+	3	407	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_172140.1	NP_742152.1			interferon, lambda 1																		GGTCCTGGAGGCCGCTGCTGG	0.662000													10	56					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645707	29645707	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:29645707T>A	ENST00000247270.3	-	3	730	c.394A>T	c.(394-396)Agc>Tgc	p.S132C	CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.E48V|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.S109C|EVI2A_ENST00000461237.1_Missense_Mutation_p.S109C|NF1_ENST00000581113.2_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	109						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCAATGCTCTGTACTGTT	0.363000													54	143					0	0	1	0	0
TSR3	115939	broad.mit.edu	37	16	1400180	1400180	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:1400180G>A	ENST00000007390.2	-	4	688	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		TCAGGTCCAAGAAGCCCTTGC	0.587000													15	28					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510756	171510756	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:171510756T>G	ENST00000367742.3	+	16	4393	c.4151T>G	c.(4150-4152)gTt>gGt	p.V1384G	PRRC2C_ENST00000338920.4_Missense_Mutation_p.V1382G|PRRC2C_ENST00000426496.2_Missense_Mutation_p.V1382G|PRRC2C_ENST00000392078.3_Missense_Mutation_p.V1384G			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1382	Arg-rich.						protein C-terminus binding										CAGTCAGAAGTTCCTAAACCA	0.498000													15	23					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018857	143018857	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:143018857G>A	ENST00000343257.2	+	5	699	c.612G>A	c.(610-612)aaG>aaA	p.K204K	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	204					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGTCCTGAAGGAATACCTCA	0.532000													23	86					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41930426	41930426	+	Silent	SNP	C	C	T	rs147021347	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:41930426C>T	ENST00000269980.2	+	9	1619	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	CTC-435M10.3_ENST00000540732.1_Silent_p.P451P|BCKDHA_ENST00000457836.2_Silent_p.P420P|BCKDHA_ENST00000595085.1_Silent_p.P451P	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	417					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	p.P417P(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGGAGATGCCCGCCCAGCTCC	0.617000													36	99					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45003884	45003884	+	Silent	SNP	C	C	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:45003884C>A	ENST00000372176.1	-	13	1260	c.792G>T	c.(790-792)ctG>ctT	p.L264L	ELMO2_ENST00000454865.2_Silent_p.L84L|ELMO2_ENST00000396391.1_Silent_p.L352L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Silent_p.L364L|ELMO2_ENST00000290246.6_Silent_p.L352L|ELMO2_ENST00000352077.2_Silent_p.L350L|ELMO2_ENST00000445496.2_Silent_p.L169L			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	352					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CGGTAAATCCCAGCATTTTGT	0.527000													25	74					6.32553e-13	6.4109e-13	1	1	0
ATL1	51062	broad.mit.edu	37	14	51094855	51094855	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:51094855G>A	ENST00000441560.2	+	13	1707	c.1226G>A	c.(1225-1227)gGt>gAt	p.G409D	ATL1_ENST00000358385.6_Missense_Mutation_p.G409D|ATL1_ENST00000357032.3_Missense_Mutation_p.G409D|ATL1_ENST00000354525.4_Missense_Mutation_p.G409D	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	409					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAGAAGATGGGTGGGGAAGAA	0.438000													14	77					0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63809491	63809491	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:63809491G>A	ENST00000355095.4	+	5	1572	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	ZNF736_ENST00000423484.1_Missense_Mutation_p.R417K	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN	zinc finger protein 736	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						AGACATAAGAGAATTCATACT	0.383000													7	12					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830821	2830821	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:2830821C>T	ENST00000520002.1	-	58	9299	c.8743_splice	c.e58-1	p.G2915_splice	CSMD1_ENST00000537824.1_Splice_Site_p.G2914_splice|CSMD1_ENST00000602723.1_Splice_Site_p.G2857_splice|CSMD1_ENST00000542608.1_Splice_Site_p.G2856_splice|CSMD1_ENST00000400186.3_Splice_Site_p.G2857_splice|CSMD1_ENST00000602557.1_Splice_Site_p.G2915_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2915	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGATTATTTCCTATTGAAAA	0.413000													66	203					0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42461187	42461187	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:42461187G>A	ENST00000222008.6	-	4	549	c.452C>T	c.(451-453)gCc>gTc	p.A151V	RABAC1_ENST00000601891.1_Intron|RABAC1_ENST00000601078.1_Missense_Mutation_p.A57V	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	151						cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding			central_nervous_system(1)|kidney(1)|prostate(1)	3						CCAGAAGACGGCCGAGCCCGC	0.657000													8	60					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431315	56431315	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:56431315G>A	ENST00000302969.2	+	1	178	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GATTACAACAGACACTCAGCT	0.473000													53	245					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108697741	108697741	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:108697741G>A	ENST00000565488.1	-	6	905	c.686C>T	c.(685-687)tCa>tTa	p.S229L	SLC25A24_ENST00000370041.4_Missense_Mutation_p.S210L	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	229					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CATTTTGTCTGATTTTGAACC	0.358000													28	62					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816406	156816406	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:156816406C>T	ENST00000347377.6	+	29	3848	c.3417C>T	c.(3415-3417)atC>atT	p.I1139I	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.I1139I|CYFIP2_ENST00000541131.1_Silent_p.I1064I|CYFIP2_ENST00000318218.6_Silent_p.I1164I|CYFIP2_ENST00000522463.1_Silent_p.I943I|CYFIP2_ENST00000435847.2_Silent_p.I838I|CYFIP2_ENST00000521420.1_Silent_p.I1113I	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1164					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTACTGCATCCCTGTGGGAA	0.622000													7	22					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99709601	99709601	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:99709601T>A	ENST00000344095.4	-	8	1267	c.742A>T	c.(742-744)Acg>Tcg	p.T248S	TAF6_ENST00000452041.1_Missense_Mutation_p.T248S|TAF6_ENST00000472509.1_Missense_Mutation_p.T305S|TAF6_ENST00000453269.2_Missense_Mutation_p.T248S|TAF6_ENST00000437822.2_Missense_Mutation_p.T285S|TAF6_ENST00000418432.2_Missense_Mutation_p.T172S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	248					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGGGTCCGTGGCAATGCTT	0.602000													13	33					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929368	119929368	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:119929368G>A	ENST00000361035.4	+	6	1007	c.724G>A	c.(724-726)Gat>Aat	p.D242N	HAO2_ENST00000325945.3_Missense_Mutation_p.D229N	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	229	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GACAAAAGAGGATGCAGAGTT	0.458000													66	98					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309877	37309877	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:37309877T>C	ENST00000356725.4	-	5	1489	c.1369A>G	c.(1369-1371)Aag>Gag	p.K457E	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAAGGTCTTTCCACATTCC	0.383000													21	122					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49079245	49079245	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:49079245C>T	ENST00000323090.4	+	1	449	c.74C>T	c.(73-75)cCc>cTc	p.P25L	SULT2B1_ENST00000201586.2_Missense_Mutation_p.P40L	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	40					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GTCCCCTTCCCCGTCGGCCTG	0.592000													38	91					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134217268	134217268	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:134217268T>C	ENST00000535456.2	+	5	687	c.499T>C	c.(499-501)Ttc>Ctc	p.F167L	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.F167L|GLB1L2_ENST00000339772.7_Missense_Mutation_p.F167L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	167					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTACAAGGGCTTCACCGAAGC	0.507000													53	252					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060381	9060381	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9060381A>G	ENST00000397910.4	-	3	27268	c.27065T>C	c.(27064-27066)gTt>gCt	p.V9022A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9024	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTAAGGAACAGTGCTTGG	0.517000													13	90					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608226	24608226	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:24608226C>T	ENST00000379145.1	-	4	390	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	PCYT1B_ENST00000356768.4_Missense_Mutation_p.E134K|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Missense_Mutation_p.E134K	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	134	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTGAGAGCTTCGTATCTCTCG	0.443000													4	37					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8607335	8607335	+	Splice_Site	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:8607335T>C	ENST00000157600.3	+	5	1171		c.e5+2		LMCD1_ENST00000397386.3_Splice_Site|LMCD1_ENST00000454244.1_Splice_Site|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TGCGATGAGGTGGGAGATAGC	0.607000													3	11					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658222	121658222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:121658222G>A	ENST00000489711.1	+	20	2176	c.1788G>A	c.(1786-1788)tgG>tgA	p.W596*	SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.W565*	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	596					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTCAGGCCTGGAAGATTGAAG	0.448000													36	81					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233394675	233394675	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:233394675C>T	ENST00000258385.3	+	7	678	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Missense_Mutation_p.R201W|CHRND_ENST00000536614.1_Missense_Mutation_p.P179L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	216					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GATAGTCCACCGGCCGGCCAG	0.647000													13	72					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910774	108910774	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:108910774C>T	ENST00000326853.5	+	3	694	c.241C>T	c.(241-243)Cct>Tct	p.P81S	SULT1C2_ENST00000409880.1_Missense_Mutation_p.P81S|SULT1C2_ENST00000251481.6_Missense_Mutation_p.P81S|SULT1C2_ENST00000437390.2_Missense_Mutation_p.P81S	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	81					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACACCGCCATCCTTTCATTGA	0.527000													20	111					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	705456	705456	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:705456C>T	ENST00000549091.1	+	15	1798	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.S569L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	569										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGGAGCCCTCGGCTGCCATG	0.721000													4	6					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714080	6714080	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:6714080G>A	ENST00000245907.6	-	7	788	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	232					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTATGACCTCGAAACTGGGCA	0.622000													14	70					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155861154	155861154	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:155861154G>C	ENST00000471742.1	+	1	404	c.187G>C	c.(187-189)Gtt>Ctt	p.V63L	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	74						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GTTTCTACGTGTTCATGGAAT	0.527000													16	115					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176467	223176467	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:223176467C>T	ENST00000284476.6	+	8	1892	c.1728C>T	c.(1726-1728)gtC>gtT	p.V576V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	576	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATGCTTTTGTCCTGTGTGATG	0.413000													36	129					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70486792	70486792	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:70486792G>A	ENST00000310961.5	+	17	1844	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_Silent_p.T2T|LRRC7_ENST00000035383.5_Missense_Mutation_p.E471K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	471						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGAAGATGACGAAAATGCTGG	0.388000													21	71					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4511034	4511034	+	Missense_Mutation	SNP	C	C	T	rs144863882	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:4511034C>T	ENST00000307632.3	+	1	926	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAAGCAGATTCGTGAGTATGT	0.433000													27	107					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481834	142481834	+	RNA	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:142481834T>C	ENST00000603901.1	+	0	513					NR_001296.3																						AGGCTAAGTGTAAAGCCTCCT	0.512000													11	211					0	0	1	0	0
NDUFB2	4708	broad.mit.edu	37	7	140404690	140404690	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:140404690T>C	ENST00000476279.1	+	3	348	c.274T>C	c.(274-276)Tgg>Cgg	p.W92R	NDUFB2_ENST00000460088.1_Missense_Mutation_p.W28R|NDUFB2_ENST00000475276.1_Missense_Mutation_p.W65R|NDUFB2_ENST00000465506.1_Missense_Mutation_p.W92R|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.W82R|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000247866.4_Missense_Mutation_p.W92R|NDUFB2_ENST00000476470.1_Missense_Mutation_p.W28R|NDUFB2_ENST00000472695.1_Missense_Mutation_p.W28R|NDUFB2_ENST00000482954.1_Missense_Mutation_p.W28R|NDUFB2_ENST00000471136.1_Missense_Mutation_p.W80R			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	92					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	TCCTTCCCAGTGGACAGATGA	0.393000													29	106					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68241765	68241765	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:68241765G>A	ENST00000347230.4	-	27	5426	c.5288C>T	c.(5287-5289)cCa>cTa	p.P1763L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1763L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1763					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTCTGCTGATGGTGATCTAGG	0.443000													3	17					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47541893	47541893	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:47541893G>A	ENST00000359314.5	+	6	1091	c.635G>A	c.(634-636)cGa>cAa	p.R212Q		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	212					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAAAATTCGAGGAATTGGA	0.408000													41	110					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38600990	38600990	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:38600990G>A	ENST00000222345.6	+	8	2766	c.2257G>A	c.(2257-2259)Gtc>Atc	p.V753I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	753	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CATTGTCCGAGTCCACAACCC	0.597000													11	42					0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560112	36560112	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:36560112G>A	ENST00000373461.4	+	2	444	c.197G>A	c.(196-198)gGc>gAc	p.G66D	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.G66D	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	66	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TCCTTCCGCGGCAGCGGCTCC	0.622000													42	128					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	816934	816934	+	Missense_Mutation	SNP	G	G	A	rs34926266	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:816934G>A	ENST00000566549.1	+	14	1840	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I	MSLN_ENST00000563941.1_Missense_Mutation_p.V475I|MSLN_ENST00000545450.2_Missense_Mutation_p.V475I|MSLN_ENST00000382862.3_Missense_Mutation_p.V483I			Q13421	MSLN_HUMAN	mesothelin	483					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCAGCTGGACGTCCTCTATCC	0.637000													5	77					0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557578	36557578	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:36557578C>T	ENST00000373178.4	+	4	614	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	195						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				ATCCTGCAGGCCCTGGCTGTG	0.632000													17	61					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48482738	48482738	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:48482738G>A	ENST00000004980.5	-	5	704	c.226C>T	c.(226-228)Cct>Tct	p.P76S	SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.P76S|SENP1_ENST00000549595.1_Missense_Mutation_p.P76S|SENP1_ENST00000339976.6_Silent_p.I151I|SENP1_ENST00000551330.1_Missense_Mutation_p.P76S|SENP1_ENST00000549518.1_Missense_Mutation_p.P76S			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	76	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TCTGAGGAAGGATTATCTAAA	0.378000													6	9					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283655	159283655	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:159283655G>A	ENST00000332217.5	-	1	794	c.795C>T	c.(793-795)tcC>tcT	p.S265S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGGAACTCTGGGACTTAGGCT	0.532000													53	105					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81295874	81295874	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:81295874G>A	ENST00000258168.2	+	4	918	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BCMO1_ENST00000564552.1_Missense_Mutation_p.E153K|BCMO1_ENST00000425577.2_Missense_Mutation_p.E84K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	153					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACAGACTCTGGAAACCCTGGA	0.507000													32	113					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858758	38858758	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:38858758C>T	ENST00000409235.3	+	26	3116	c.3001C>T	c.(3001-3003)Cac>Tac	p.H1001Y	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.H961Y	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1001					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CATCATGTCCCACGAGAGCCC	0.602000													6	108					0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36235044	36235044	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:36235044G>T	ENST00000412391.2	-	6	364	c.351C>A	c.(349-351)ttC>ttA	p.F117L	AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.F78L|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.F78L			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	117	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCCCTCCGGAACTGCAGGA	0.572000													8	32					0.000157383	0.000157593	1	1	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:10914379G>A	ENST00000298232.7	-	20	1653	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	TPTE_ENST00000342420.5_Missense_Mutation_p.S409L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S447L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	447	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCTAATGAAATAGTGGA	0.328000													7	81					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072508	9072508	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9072508G>A	ENST00000397910.4	-	3	15141	c.14938C>T	c.(14938-14940)Cct>Tct	p.P4980S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4982	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCATGAGGACCTGTTTGG	0.473000													40	67					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155526125	155526125	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:155526125G>A	ENST00000404648.3	-	9	1462	c.1223C>T	c.(1222-1224)aCc>aTc	p.T408I	FGG_ENST00000407946.1_Missense_Mutation_p.T416I|FGG_ENST00000405164.1_Missense_Mutation_p.T416I|FGG_ENST00000336098.3_Missense_Mutation_p.T408I	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	408	Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTCATAGTGGTTTTCTTCAT	0.463000													49	87					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501064	195501064	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:195501064G>A	ENST00000463781.3	-	4	13515	c.13056C>T	c.(13054-13056)tcC>tcT	p.S4352S	MUC4_ENST00000346145.4_Silent_p.S116S|MUC4_ENST00000349607.4_Silent_p.S65S|MUC4_ENST00000475231.1_Silent_p.S4352S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1109					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACGGAGAGAGGAGCCAAGGG	0.662000													7	25					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53044632	53044632	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:53044632G>A	ENST00000276480.7	-	22	3235	c.2552C>T	c.(2551-2553)cCt>cTt	p.P851L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	851						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCATTGAGAGGATTCTCCTT	0.498000													31	65					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995901	2995901	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:2995901G>A	ENST00000331459.1	-	1	389	c.390C>T	c.(388-390)ctC>ctT	p.L130L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	130					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TGGTGTAGTGGAGGGGGCAGC	0.547000													38	106					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211775	17211775	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:17211775G>A	ENST00000261381.6	-	11	2369	c.2285C>T	c.(2284-2286)cCc>cTc	p.P762L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	762					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCATCCATGGGCCCCAGAAG	0.572000													20	67					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338095	72338095	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:72338095C>T	ENST00000333850.3	+	3	418	c.277C>T	c.(277-279)Cat>Tat	p.H93Y	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	93	ACT.				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)	CAACATGGTTCATATTGAATC	0.408000													42	96					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155792215	155792215	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:155792215G>A	ENST00000437809.1	-	4	872	c.750C>T	c.(748-750)acC>acT	p.T250T	GON4L_ENST00000271883.5_Silent_p.T250T|GON4L_ENST00000368331.1_Silent_p.T250T|GON4L_ENST00000361040.5_Silent_p.T250T|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	250					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTTCCTCTTGGTACCCTTTT	0.438000													61	122					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307551	54307551	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:54307551G>A	ENST00000545554.1	+	1	2451	c.2451G>A	c.(2449-2451)caG>caA	p.Q817Q	UNC13C_ENST00000260323.11_Silent_p.Q817Q|UNC13C_ENST00000537900.1_Silent_p.Q817Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	817					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGCACACAGAGTCTGAGTG	0.433000													16	49					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:80328367G>A	ENST00000358842.3	-	1	1005	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	330					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGCCAACGAATAACAGCA	0.428000													53	143					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52431033	52431033	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:52431033C>T	ENST00000420323.2	+	73	12021	c.11760C>T	c.(11758-11760)caC>caT	p.H3920H		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3985	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCATCTACCACCAGATCCCGC	0.617000													8	10					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412184	40412184	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:40412184G>A	ENST00000221347.6	-	7	3451	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1148	Cys-rich.|TIL 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGCGGGCAGCCGTAGGAAC	0.612000													5	42					0	0	1	0	0
PROSER2	254427	broad.mit.edu	37	10	11894099	11894099	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:11894099C>T	ENST00000277570.5	+	2	177	c.23C>T	c.(22-24)tCa>tTa	p.S8L	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR	NM_153256.3	NP_694988.3			proline and serine-rich protein 2																		CACCGGAAATCAGACGCATCT	0.622000													7	19					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332853	70332853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:70332853G>A	ENST00000338508.4	-	32	3547	c.3548C>T	c.(3547-3549)cCc>cTc	p.P1183L	SHANK2_ENST00000409161.1_Missense_Mutation_p.P586L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P587L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P803L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	803					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTGCTCTCGGGCCCCTGGGC	0.692000													13	31					0	0	1	0	0
PCYT2	5833	broad.mit.edu	37	17	79865706	79865706	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:79865706G>A	ENST00000538936.2	-	5	543	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCYT2_ENST00000571105.1_Silent_p.S145S|PCYT2_ENST00000570388.1_Silent_p.S67S|PCYT2_ENST00000538721.2_Silent_p.S145S|PCYT2_ENST00000331285.3_Silent_p.S67S|PCYT2_ENST00000570391.1_Silent_p.S113S	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	145	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGTCTGTGGTGGACACCCCTT	0.642000													13	43					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526599	84526599	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:84526599G>A	ENST00000360700.4	+	10	3075	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	ZNF711_ENST00000542798.1_Missense_Mutation_p.G526E|ZNF711_ENST00000395402.1_Missense_Mutation_p.G692E|ZNF711_ENST00000373165.3_Missense_Mutation_p.G684E|ZNF711_ENST00000276123.3_Missense_Mutation_p.G684E			Q9Y462	ZN711_HUMAN	zinc finger protein 711	684					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGCAAGAGAGGATTCAGACAA	0.363000													53	37					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434439	31434439	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:31434439G>A	ENST00000389202.2	+	24	2834	c.2785G>A	c.(2785-2787)Gaa>Aaa	p.E929K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	929					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTCCAGGCAGGAAGAATCCAC	0.517000													9	58					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649537	7649537	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:7649537C>T	ENST00000359156.4	-	5	1173	c.971G>A	c.(970-972)gGa>gAa	p.G324E	CD163_ENST00000541972.1_Missense_Mutation_p.G312E|CD163_ENST00000432237.2_Missense_Mutation_p.G324E|CD163_ENST00000396620.3_Missense_Mutation_p.G324E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	324	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGTCCAAATCCCTTACTGGC	0.502000													14	48					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125302130	125302130	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:125302130G>A	ENST00000339570.5	-	2	446	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.P43S|SCARB1_ENST00000415380.2_Missense_Mutation_p.P84S|SCARB1_ENST00000261693.6_Missense_Mutation_p.P84S|SCARB1_ENST00000540495.1_Missense_Mutation_p.P47S|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Missense_Mutation_p.P30S|SCARB1_ENST00000546215.1_Missense_Mutation_p.P84S	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	84					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGCACCTGCGGCTTCTCGCCC	0.617000													21	54					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043425	51043425	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:51043425C>T	ENST00000399908.2	+	3	1616	c.900C>T	c.(898-900)gaC>gaT	p.D300D	MAPK8IP2_ENST00000341339.4_Silent_p.D186D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000008876.5_Silent_p.D271D|MAPK8IP2_ENST00000329492.3_Silent_p.D565D|MAPK8IP2_ENST00000399912.1_Silent_p.D300D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	566					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCGCCGGACAGCCCTGACC	0.662000													9	46					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1392548	1392548	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:1392548G>A	ENST00000378785.2	+	8	1724	c.729G>A	c.(727-729)cgG>cgA	p.R243R		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	243							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTTCCTTCGGAAGCGAGCCA	0.647000													42	39					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49424413	49424413	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:49424413G>A	ENST00000301067.7	-	41	13809	c.13810C>T	c.(13810-13812)Cct>Tct	p.P4604S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TAGTAGTCAGGGCCAGTGGGC	0.527000													5	28					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239025592	239025592	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:239025592G>A	ENST00000343063.3	+	5	1167	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ESPNL_ENST00000409169.1_Intron	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	302										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGCGGGATGAAGATGGTTA	0.657000													7	32					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897297	61897297	+	Missense_Mutation	SNP	C	C	A	rs139863209		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:61897297C>A	ENST00000394818.3	+	4	500	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	INCENP_ENST00000278849.4_Missense_Mutation_p.R100S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	100			R -> H (in dbSNP:rs12281503).		chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTCCCGACGCCTCCGCAG	0.677000													16	32					1.37285e-15	1.39326e-15	1	1	0
FOLH1	2346	broad.mit.edu	37	11	49168403	49168403	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:49168403C>T	ENST00000340334.7	-	20	2481	c.2113G>A	c.(2113-2115)Gac>Aac	p.D705N	FOLH1_ENST00000356696.3_Missense_Mutation_p.D689N|FOLH1_ENST00000533034.1_Missense_Mutation_p.D674N|FOLH1_ENST00000256999.2_Missense_Mutation_p.D720N|FOLH1_ENST00000343844.4_Missense_Mutation_p.D412N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	720					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTGGAAGGGTCCACTTTGCTT	0.478000													31	96					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946898	227946898	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:227946898C>T	ENST00000396625.3	-	23	1836	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	COL4A4_ENST00000329662.7_Silent_p.K543K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	543	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGCACCATGCTTTCCCTTGG	0.413000													46	93					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56319229	56319229	+	Missense_Mutation	SNP	G	G	A	rs141366900		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:56319229G>A	ENST00000443188.1	-	6	2703	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	NLRP11_ENST00000589093.1_Missense_Mutation_p.R665C|NLRP11_ENST00000592953.1_Missense_Mutation_p.R566C|NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000589824.2_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	665							ATP binding	p.R665C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTGAGTGTGCGAAGTTTACAG	0.423000													22	173					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:110710562C>T	ENST00000282356.4	+	3	653	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_ENST00000512453.1_Silent_p.I85I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000													16	57					0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670798	90670798	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:90670798G>A	ENST00000265138.3	-	5	1077	c.811C>T	c.(811-813)Cca>Tca	p.P271S		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	271					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAACTGGTGGAATTTTCAGC	0.403000													29	91					0	0	1	0	0
ASB18	401036	broad.mit.edu	37	2	237172851	237172851	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:237172851C>T	ENST00000409749.3	-	1	137	c.138G>A	c.(136-138)gtG>gtA	p.V46V	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	46					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCAGTTCTATCACAGCGTCCA	0.512000													9	25					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28918401	28918401	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:28918401G>A	ENST00000257192.4	+	10	1601	c.1389G>A	c.(1387-1389)acG>acA	p.T463T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	463	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAAGGAACGATTCTCTCTA	0.318000													24	86					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218990	130218990	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:130218990G>A	ENST00000276211.5	+	7	1252	c.907G>A	c.(907-909)Gat>Aat	p.D303N	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D167N|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D291N	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	303	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGACATGAAGGATTCTCTGCT	0.468000													59	34					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409763	56409763	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:56409763C>T	ENST00000544374.1	-	1	184	c.156G>A	c.(154-156)atG>atA	p.M52I	OR5AP2_ENST00000302981.1_Missense_Mutation_p.M51I			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TCAATACAATCATCCCCAAAT	0.423000													13	71					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251398	43251398	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:43251398G>A	ENST00000259750.4	+	14	3003	c.2920G>A	c.(2920-2922)Ggg>Agg	p.G974R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	974						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGTGGAGGAGGGGGCCCGAGC	0.692000													16	40					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863615	106863615	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:106863615C>T	ENST00000379987.2	+	8	1131	c.915C>T	c.(913-915)atC>atT	p.I305I	NPNT_ENST00000514622.1_Silent_p.I305I|NPNT_ENST00000506666.1_Silent_p.I335I|NPNT_ENST00000453617.2_Silent_p.I322I|NPNT_ENST00000427316.2_Silent_p.I335I|NPNT_ENST00000305572.8_Silent_p.I305I	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	305	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTCCTCCTATCATTACCAACA	0.458000													39	107					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201970536	201970536	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:201970536C>T	ENST00000295640.4	+	7	1280	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.P374S	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	413					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TAATGAGACCCCCTACGAGAA	0.493000													14	66					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340421	100340421	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:100340421C>T	ENST00000341853.1	-	0	505					NR_003260.1																						CACGCGAGCGCAGGTTGGACA	0.607000													5	18					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2946352	2946352	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:2946352C>T	ENST00000396946.4	-	25	3788	c.3385G>A	c.(3385-3387)Gag>Aag	p.E1129K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1129	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCAGCTCCTCTACGCTGCCC	0.662000			Mis		DLBCL								23	65					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74637424	74637424	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:74637424C>T	ENST00000358632.4	-	3	807	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000268053.6_Missense_Mutation_p.G196R|CYP11A1_ENST00000419019.2_Missense_Mutation_p.G38R	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	196					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGATGTCCCCCGAGTAATTT	0.582000													15	57					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725903	87725903	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:87725903C>T	ENST00000305344.4	+	2	1554	c.851C>T	c.(850-852)aCc>aTc	p.T284I	HTR1E_ENST00000369584.1_Missense_Mutation_p.T284I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	284					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ATCTCTAGCACCAGGGAACGG	0.512000													90	120					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918598	112918598	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:112918598G>A	ENST00000374530.3	+	9	3175		c.e9-1		AKAP2_ENST00000259318.7_Splice_Site|AKAP2_ENST00000555236.1_Splice_Site|AKAP2_ENST00000510514.5_Splice_Site|AKAP2_ENST00000434623.2_Splice_Site|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000374525.1_Splice_Site|PALM2-AKAP2_ENST00000302798.7_Splice_Site	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN									enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TGTTGTTTCAGGGAAAATAGA	0.493000													36	48					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546576	11546576	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:11546576C>T	ENST00000389362.4	-	3	471	c.436G>A	c.(436-438)Gga>Aga	p.G146R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGCCTCCTTGTGGGGGT	0.582000													108	751					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122831503	122831503	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:122831503C>T	ENST00000264811.5	-	5	1797	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	TRPC3_ENST00000379645.3_Missense_Mutation_p.G533E|TRPC3_ENST00000513531.1_Missense_Mutation_p.G405E	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	448					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCCCTAGGTCCTTCCAGCCA	0.458000													39	100					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6386917	6386917	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:6386917G>A	ENST00000262483.8	-	6	594	c.507C>T	c.(505-507)ttC>ttT	p.F169F	ACKR6_ENST00000421306.3_Silent_p.F133F	NM_031220.3	NP_112497.2																					GGGCAGCAGGGAAATGGGCTC	0.597000													14	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048951	9048951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9048951G>A	ENST00000397910.4	-	5	32883	c.32680C>T	c.(32680-32682)Cca>Tca	p.P10894S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10896	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAGAATTGGAATAGTTGTA	0.483000													47	95					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149937770	149937770	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:149937770G>A	ENST00000369135.3	-	5	830	c.536C>T	c.(535-537)aCc>aTc	p.T179I	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	179	Catalytic.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCTGAGAGGTGGGATCCAC	0.512000													14	32					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33014668	33014668	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:33014668G>A	ENST00000280979.4	+	4	979	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	AKAP6_ENST00000557272.1_Missense_Mutation_p.R270Q|AKAP6_ENST00000557354.1_Missense_Mutation_p.R270Q	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	270					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGCTTATCCGAAGTGTTGGT	0.468000													20	112					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70514348	70514348	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:70514348C>T	ENST00000377844.4	-	4	1597	c.838G>A	c.(838-840)Gac>Aac	p.D280N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D87N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	280					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCAATGGTGTCCTCTTTTAAT	0.383000													8	25					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562818	140562818	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:140562818C>T	ENST00000361016.2	+	1	1839	c.684C>T	c.(682-684)gtC>gtT	p.V228V		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTCAGGTCCGTATTGAAG	0.522000													32	78					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99378639	99378639	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:99378639G>A	ENST00000376503.5	-	3	141	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	29					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.S29F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TCCATAGTAGGAAAATCTTTC	0.443000													10	37					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108688560	108688560	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:108688560A>G	ENST00000232603.5	-	26	2642	c.2560T>C	c.(2560-2562)Tgc>Cgc	p.C854R	MORC1_ENST00000483760.1_Missense_Mutation_p.C833R	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	854					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCTCTGGGCACTGCTCCAGC	0.368000													26	84					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122341965	122341965	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:122341965G>A	ENST00000434824.1	-	1	1056	c.840C>T	c.(838-840)ttC>ttT	p.F280F	CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	280						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGCCTTATGGAAAAAATGTT	0.398000													50	73					0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937530	26937530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:26937530G>A	ENST00000338754.4	-	3	337	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	TPST2_ENST00000403880.1_Nonsense_Mutation_p.Q23*|TPST2_ENST00000398110.2_Nonsense_Mutation_p.Q23*	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	23					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGTCCCAGCTGAACCGCCAGC	0.741000													4	22					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45776734	45776734	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:45776734G>A	ENST00000361722.3	+	5	1532	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	228					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GAGCGGCGGCGGCTAGAAGAG	0.711000											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379123	32379123	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:32379123C>T	ENST00000375200.1	+	15	2730	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.P782S			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGAGGCTGTCCCCGGCAAGCC	0.692000													9	36					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190593448	190593448	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:190593448G>A	ENST00000520309.1	+	15	3182	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R	ANKAR_ENST00000438402.2_Missense_Mutation_p.G1032R|ANKAR_ENST00000431575.2_Missense_Mutation_p.G961R|ANKAR_ENST00000313581.4_Missense_Mutation_p.G1032R|ANKAR_ENST00000281412.6_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1032						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AATATGTGAAGGGAATGGAAT	0.413000													11	91					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228539042	228539042	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:228539042T>C	ENST00000570156.2	+	89	21385	c.21311T>C	c.(21310-21312)cTg>cCg	p.L7104P	OBSCN_ENST00000284548.11_Missense_Mutation_p.L6147P|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3266P|OBSCN_ENST00000422127.1_Missense_Mutation_p.L6147P|OBSCN_ENST00000366707.4_Missense_Mutation_p.L3781P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6147	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACGGGGCCCTGCTGACCACT	0.642000													3	6					0	0	1	0	0
C4orf29	80167	broad.mit.edu	37	4	128951697	128951697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:128951697C>T	ENST00000388795.5	+	12	1370	c.967C>T	c.(967-969)Caa>Taa	p.Q323*	C4orf29_ENST00000444616.1_Nonsense_Mutation_p.Q371*|C4orf29_ENST00000398965.1_Nonsense_Mutation_p.Q371*			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	371						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TATAGTGGTTCAAGCCAAAGA	0.368000													21	64					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230341907	230341907	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:230341907C>T	ENST00000341772.4	-	7	1344	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	404	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.G404R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CATGTTGCTCCATTTCTGCAT	0.358000													23	40					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2027386	2027386	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:2027386G>A	ENST00000568546.1	+	16	1829	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	567					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CTTCTGTGCTGAAGGTGGCCT	0.657000													30	60					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331595	107331595	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:107331595C>T	ENST00000335040.1	+	1	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTCAGTTATCATCTTTGATT	0.443000													109	159					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61121274	61121274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:61121274G>A	ENST00000546151.1	-	4	474	c.206C>T	c.(205-207)tCt>tTt	p.S69F	CYB561A3_ENST00000447532.2_Silent_p.V125V|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000426130.2_Silent_p.V142V|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000536915.1_Silent_p.V125V|CYB561A3_ENST00000294072.4_Silent_p.V125V					cytochrome b561 family, member A3																		CGAAGAGGAAGACAGTGGTGA	0.547000													11	34					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814011	137814011	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:137814011G>A	ENST00000409968.1	+	3	339	c.161G>A	c.(160-162)gGa>gAa	p.G54E	THSD7B_ENST00000272643.3_Missense_Mutation_p.G54E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G23E					thrombospondin, type I, domain containing 7B									p.G54A(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGTGTACAGGAGACTGTGGT	0.483000													7	54					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108211414	108211414	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:108211414G>A	ENST00000273353.3	-	10	920	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	288	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAGCCTGCTGGAAAATCACCC	0.378000													16	43					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872205	51872205	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:51872205C>T	ENST00000371497.5	+	2	3095	c.2208C>T	c.(2206-2208)gtC>gtT	p.V736V	TSHZ2_ENST00000329613.6_Silent_p.V733V|TSHZ2_ENST00000603338.2_Silent_p.V733V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	736					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATCTCAATGTCATGGACAAGC	0.542000													25	57					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445894	128445894	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:128445894G>A	ENST00000297788.4	+	7	1395	c.1028G>A	c.(1027-1029)aGg>aAg	p.R343K	CCDC136_ENST00000378685.4_Missense_Mutation_p.R381K|CCDC136_ENST00000487361.1_Missense_Mutation_p.R343K|CCDC136_ENST00000464832.1_Missense_Mutation_p.R393K	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	343						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CGGCTGCAGAGGGAGCTCAAG	0.567000													18	32					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288916	216288916	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:216288916G>A	ENST00000354785.4	-	8	1538	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	FN1_ENST00000443816.1_Missense_Mutation_p.S390L|FN1_ENST00000426059.1_Missense_Mutation_p.S390L|FN1_ENST00000346544.3_Missense_Mutation_p.S390L|FN1_ENST00000345488.5_Missense_Mutation_p.S390L|FN1_ENST00000323926.6_Missense_Mutation_p.S390L|FN1_ENST00000356005.4_Missense_Mutation_p.S390L|FN1_ENST00000336916.4_Missense_Mutation_p.S390L|FN1_ENST00000446046.1_Missense_Mutation_p.S390L|FN1_ENST00000432072.2_Missense_Mutation_p.S390L|FN1_ENST00000421182.1_Missense_Mutation_p.S390L|FN1_ENST00000359671.1_Missense_Mutation_p.S390L|FN1_ENST00000357867.4_Missense_Mutation_p.S390L|FN1_ENST00000357009.2_Missense_Mutation_p.S390L			P02751	FINC_HUMAN	fibronectin 1	390	Collagen-binding.|Fibronectin type-II 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATAATTCGAAGTTGTGCT	0.512000													46	114					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73046564	73046564	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:73046564C>T	ENST00000335350.6	+	5	1087	c.671C>T	c.(670-672)aCc>aTc	p.T224I	UNC5B_ENST00000373192.4_Missense_Mutation_p.T224I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	224	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCAACTATACCTGCGTGGCC	0.627000													74	107					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148481127	148481127	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:148481127C>T	ENST00000325222.4	+	11	1535	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	CUL1_ENST00000602748.1_Missense_Mutation_p.P419L|CUL1_ENST00000409469.1_Missense_Mutation_p.P419L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	419					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGTAAATCCCCTGAGTTGCTG	0.423000													21	93					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815518	106815518	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:106815518G>A	ENST00000407775.2	+	8	3458	c.3208G>A	c.(3208-3210)Gaa>Aaa	p.E1070K	ZFPM2_ENST00000378472.4_Missense_Mutation_p.E801K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E938K|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E938K|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1070					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCTCAGCACGAAGACGACCA	0.478000													13	34					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3227866	3227866	+	Missense_Mutation	SNP	C	C	T	rs149129110		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:3227866C>T	ENST00000217939.6	-	7	8532	c.8378G>A	c.(8377-8379)gGa>gAa	p.G2793E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2793	Ig-like C2-type 12.					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)				GGTCAGTGATCCCTGGGGGTG	0.502000													4	38					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56823910	56823910	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:56823910G>A	ENST00000229201.4	-	10	1216	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N	TIMELESS_ENST00000553532.1_Silent_p.N355N|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	355					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCATGAGCCGGTTGTAACAGT	0.517000													14	35					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119043650	119043650	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:119043650C>T	ENST00000409109.1	+	4	768	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	NLRX1_ENST00000525863.1_Missense_Mutation_p.P61S|NLRX1_ENST00000409991.1_Missense_Mutation_p.P61S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P61S|NLRX1_ENST00000409265.4_Missense_Mutation_p.P61S			Q86UT6	NLRX1_HUMAN	NLR family member X1	61					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGATAGCGCTCCCCCACCCGG	0.637000													17	77					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54685258	54685258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:54685258G>A	ENST00000545554.1	+	17	4726	c.4726G>A	c.(4726-4728)Gat>Aat	p.D1576N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D1576N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1574N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAGAAACAGGATATTCCTCG	0.378000													17	64					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910459	52910459	+	Silent	SNP	G	G	A	rs60062350		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:52910459G>A	ENST00000252242.4	-	7	1791	c.1401C>T	c.(1399-1401)atC>atT	p.I467I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	467	Coil 2.|Rod.		I -> T (in DM-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAAGTGGCGATCTCCACGT	0.587000													61	139					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65267478	65267478	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:65267478C>A	ENST00000389722.3	-	7	925	c.872G>T	c.(871-873)gGc>gTc	p.G291V	SPTB_ENST00000542895.1_Missense_Mutation_p.G291V|SPTB_ENST00000389720.3_Missense_Mutation_p.G291V|SPTB_ENST00000389721.5_Missense_Mutation_p.G291V|SPTB_ENST00000556626.1_Missense_Mutation_p.G291V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	291					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTGTACCTTGCCGACACGCTT	0.498000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	38					1	1	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92732551	92732551	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:92732551C>T	ENST00000379958.2	-	3	3129	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	954						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAATTTTTCTGTCCCCCAG	0.398000													35	67					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154267904	154267904	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:154267904G>A	ENST00000285873.7	-	28	4468	c.4393C>T	c.(4393-4395)Ctc>Ttc	p.L1465F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1465					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCAGGACGAGGCAGCACTCC	0.537000													24	64					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363780	22363780	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:22363780G>A	ENST00000397121.2	-	3	1056	c.739C>T	c.(739-741)Cat>Tat	p.H247Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTATCTTA	0.368000													31	156					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332767	22332767	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:22332767C>T	ENST00000558896.1	+	0	574																											ACAGTTATGGCCTATGACAGG	0.502000													20	147					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16326932	16326932	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:16326932G>A	ENST00000244769.4	-	8	2546	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	ATXN1_ENST00000436367.1_Missense_Mutation_p.A537V	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	537	Self-association.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGTGACCAGGGCCTCAGGGTT	0.677000													13	104					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61064475	61064475	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:61064475C>T	ENST00000238497.5	-	9	1087	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	295					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AATATAAATTCGTTTCTCAAA	0.388000													19	43					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132416	124132416	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:124132416C>A	ENST00000360013.3	+	14	2567	c.2440C>A	c.(2440-2442)Cac>Aac	p.H814N	KALRN_ENST00000240874.3_Missense_Mutation_p.H814N|KALRN_ENST00000460856.1_Missense_Mutation_p.H814N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	814					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTGCAGCGCCACACAGAACG	0.547000													23	42					9.95505e-16	1.01304e-15	1	1	0
RYR1	6261	broad.mit.edu	37	19	39003011	39003011	+	Silent	SNP	C	C	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:39003011C>G	ENST00000355481.4	+	63	9491	c.9360C>G	c.(9358-9360)acC>acG	p.T3120T	RYR1_ENST00000359596.3_Silent_p.T3120T|RYR1_ENST00000360985.3_Silent_p.T3120T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3120					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCGCGCACCCAGGTGAAAG	0.637000													20	38					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74842228	74842228	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:74842228G>A	ENST00000290536.5	-	3	405	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	M1AP_ENST00000409585.1_Missense_Mutation_p.R97C|M1AP_ENST00000536235.1_Missense_Mutation_p.R97C|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TGTAACATGCGGAGTTCTGAG	0.473000													31	122					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435624	104435624	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:104435624G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TCCTTAATTTGAAACAAGTGC	0.463000													18	39					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968386	28968386	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:28968386G>A	ENST00000359747.4	+	4	302	c.273G>A	c.(271-273)ggG>ggA	p.G91G	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.G91G	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	91	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGGAGTAGGGATTGATCGAC	0.413000													21	40					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32663547	32663547	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:32663547C>T	ENST00000335185.5	-	13	1064	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	341										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTGCTTTTTCATGCTCATTT	0.249000													10	27					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214630	161214630	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:161214630T>A	ENST00000327928.4	+	1	35	c.35T>A	c.(34-36)aTt>aAt	p.I12N		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	12						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCTATTTTAATTATTTTGGCT	0.338000													7	27					0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10335455	10335455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:10335455G>A	ENST00000590320.1	-	2	237	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	43					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCGCAACAGAGGATGACGATG	0.557000													24	141					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153665827	153665827	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:153665827G>A	ENST00000368680.3	+	22	3595		c.e22-1			NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)						body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTTCCCTCCAGGGCAAAGGCA	0.607000													26	95					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881601	228881601	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:228881601G>A	ENST00000392056.3	-	7	4015	c.3969C>T	c.(3967-3969)atC>atT	p.I1323I	SPHKAP_ENST00000344657.5_Silent_p.I1323I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1323						cytoplasm	protein binding	p.I1323I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCCACAATGATTTTGTTCT	0.493000													30	53					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644584	82644584	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:82644584C>T	ENST00000533655.1	+	6	2416	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	C11orf82_ENST00000329143.3_Missense_Mutation_p.S434F|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.S735F|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	735					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAAAAATTATCCTTGCAAAGC	0.368000													30	81					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390671	18390671	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:18390671C>T	ENST00000338745.6	-	11	4017	c.2283G>A	c.(2281-2283)ttG>ttA	p.L761L	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.L793L|SATB1_ENST00000454909.2_Silent_p.L761L	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	761					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCAGTCTTTCAAATCAGTAT	0.358000													43	97					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20919102	20919102	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:20919102G>A	ENST00000261497.4	-	6	1004	c.801C>T	c.(799-801)ctC>ctT	p.L267L	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.L255L	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	267					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGCCGCGATGAGGAACTCGT	0.632000													5	17					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115218614	115218614	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:115218614G>A	ENST00000369538.3	-	10	1533	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	AMPD1_ENST00000520113.2_Missense_Mutation_p.R500C|AMPD1_ENST00000353928.6_Missense_Mutation_p.R467C	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	467					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTCTTGGAACGGAACACATCA	0.428000													41	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577224	179577224	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:179577224G>A	ENST00000589042.1	-	95	27649	c.27425C>T	c.(27424-27426)tCg>tTg	p.S9142L	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7898L|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8825L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8825	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGTAACCGAAATGGGAGG	0.423000													21	37					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181798	47181798	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:47181798G>A	ENST00000447411.1	-	4	433	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S76F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	76					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTCCAAAGGAAGTGGTTCC	0.433000													20	40					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42807886	42807886	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:42807886C>T	ENST00000288383.6	+	2	585	c.229_splice	c.e2+1	p.I76_splice	MX1_ENST00000398600.2_Silent_p.I76I|MX1_ENST00000455164.2_Silent_p.I76I|MX1_ENST00000398598.3_Silent_p.I76I			P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	76					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCGCCGTCATCGGGGACCAGA	0.607000													21	93					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113798367	113798367	+	Silent	SNP	C	C	T	rs137995645	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:113798367C>T	ENST00000375559.3	+	6	743	c.705C>T	c.(703-705)atC>atT	p.I235I	F10_ENST00000409306.1_Silent_p.I235I|F10_ENST00000375551.3_Silent_p.I235I	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	235	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCAGGATCGTGGGAGGCC	0.622000													11	65					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470894	79470894	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:79470894G>A	ENST00000370742.3	-	2	96	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	11					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAACAAAGTGGAAAAAACCA	0.318000													13	57					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967264	4967264	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrY:4967264C>T	ENST00000333703.4	+	5	2125	c.1612C>T	c.(1612-1614)Cgt>Tgt	p.R538C	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R549C|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R549C	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	549	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R538C(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCCTGGATCGTCGTACAGG	0.443000													3	20					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57759755	57759755	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:57759755T>A	ENST00000269122.3	+	22	3840	c.3566T>A	c.(3565-3567)tTt>tAt	p.F1189Y	CLTC_ENST00000579456.1_Missense_Mutation_p.F126Y|CLTC_ENST00000393043.1_Missense_Mutation_p.F1189Y	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1189	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTAGAAGAATTTATCAATGGA	0.408000			T	"""ALK, TFE3"""	"""ALCL, renal """								35	78					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631747	122631747	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:122631747G>A	ENST00000195173.4	-	18	2968	c.2665C>T	c.(2665-2667)Ctg>Ttg	p.L889L	SEMA5B_ENST00000357599.3_Silent_p.L890L|SEMA5B_ENST00000451055.2_Silent_p.L944L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	890	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ACGCAGGGCAGGCCCCCGTTG	0.687000													5	78					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960822	143960822	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:143960822C>T	ENST00000377675.3	-	2	320	c.314G>A	c.(313-315)aGg>aAg	p.R105K	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCACCATCCCCTGCCCTGGCA	0.607000									Familial Hyperaldosteronism type I				9	37					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14756895	14756895	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:14756895C>T	ENST00000253697.3	+	9	1865	c.1413C>T	c.(1411-1413)acC>acT	p.T471T	C3orf20_ENST00000412910.1_Silent_p.T349T|C3orf20_ENST00000435614.1_Silent_p.T349T|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	471						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGACAGAGACCCTGCTTTCCC	0.562000													19	46					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281195	158281195	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:158281195G>A	ENST00000296526.7	+	13	2516	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	GRIA2_ENST00000264426.9_Missense_Mutation_p.E731K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E684K|GRIA2_ENST00000393815.2_Missense_Mutation_p.E684K|GRIA2_ENST00000449365.1_Missense_Mutation_p.E684K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	731					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CACGATGAACGAGTACATTGA	0.507000													32	40					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27332407	27332407	+	Silent	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:27332407A>G	ENST00000376087.4	-	20	2274	c.2109T>C	c.(2107-2109)tcT>tcC	p.S703S	ANKRD26_ENST00000376070.3_Silent_p.S260S|ANKRD26_ENST00000436985.2_Silent_p.S719S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	702						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTTGTAACTAGAGTGGGGTA	0.363000													14	19					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154324	5154324	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:5154324C>A	ENST00000252321.3	+	1	1240	c.1011C>A	c.(1009-1011)ttC>ttA	p.F337L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	337						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGTTCACCTTCGAGCTGCTCG	0.622000													21	118					2.4624e-09	2.48891e-09	1	1	0
ZNF665	79788	broad.mit.edu	37	19	53668305	53668305	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:53668305G>A	ENST00000600412.1	-	2	1358	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	ZNF665_ENST00000396424.3_Missense_Mutation_p.H480Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGAATGAATTCCCCGA	0.418000													24	120					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112352867	112352867	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:112352867C>T	ENST00000361804.4	+	18	1975	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	617	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GAGGTACAATCCCAGATTTGA	0.383000													7	23					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15555736	15555736	+	Silent	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:15555736A>G	ENST00000281513.5	-	25	2896	c.2871T>C	c.(2869-2871)taT>taC	p.Y957Y	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	957										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGTTACTAAATATTCTTTTA	0.378000													42	75					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930866	54930866	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:54930866G>A	ENST00000474759.1	+	26	2385	c.2337G>A	c.(2335-2337)ggG>ggA	p.G779G	CACNA2D3_ENST00000490478.1_Silent_p.G685G|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.G779G|CACNA2D3_ENST00000288197.5_Silent_p.G779G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	779						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGATTCCAGGGAGCTTCGTCT	0.562000													34	106					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:138414689G>A	ENST00000409968.1	+	24	4512	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000													9	45					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292065	6292065	+	Silent	SNP	C	C	A	rs1800843	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:6292065C>A	ENST00000525462.1	+	4	846	c.843C>A	c.(841-843)ggC>ggA	p.G281G	CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000334619.2_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	241					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)	AAAATCTGGGCGAGGCGGAGC	0.622000													4	30					3.59834e-05	3.60794e-05	1	1	0
OR4A47	403253	broad.mit.edu	37	11	48510994	48510994	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:48510994G>A	ENST00000446524.1	+	1	726	c.650G>A	c.(649-651)gGt>gAt	p.G217D		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCTCTTATGGTGTCATCTTG	0.463000													29	97					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687523	27687523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:27687523C>T	ENST00000438700.3	-	4	2121	c.2004G>A	c.(2002-2004)tgG>tgA	p.W668*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	668					spermatid development	integral to membrane	hedgehog receptor activity			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						CATCTTTATCCCAGTAGTCAA	0.308000													24	27					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765601	77765601	+	Silent	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:77765601T>C	ENST00000521891.2	+	10	6892	c.6444T>C	c.(6442-6444)ttT>ttC	p.F2148F	ZFHX4_ENST00000050961.6_Silent_p.F2103F|ZFHX4_ENST00000455469.2_Silent_p.F2103F|ZFHX4_ENST00000518282.1_Silent_p.F2122F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2103						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)			GGGCTTATTTTGACATTAATA	0.398000										HNSCC(33;0.089)			19	66					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747192	44747192	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:44747192C>T	ENST00000222673.5	+	22	2850	c.2808C>T	c.(2806-2808)ttC>ttT	p.F936F	OGDH_ENST00000439616.2_Silent_p.F786F|OGDH_ENST00000543843.1_Silent_p.F887F|OGDH_ENST00000449767.1_Silent_p.F932F|OGDH_ENST00000447398.1_Silent_p.F947F|OGDH_ENST00000444676.1_Silent_p.F951F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	936					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGTCGCCATTCCCCTTTGACC	0.547000													53	142					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181666	128181666	+	Silent	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:128181666A>G	ENST00000469083.1	-	2	2980	c.423T>C	c.(421-423)ttT>ttC	p.F141F	DNAJB8_ENST00000319153.3_Silent_p.F141F			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	141					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGAAGGCCGGAAATTCTCCAA	0.607000													13	33					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71606154	71606154	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:71606154C>T	ENST00000265382.3	+	15	1906	c.1601C>T	c.(1600-1602)tCt>tTt	p.534_534insF	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GACAATGCTTCTGTGCTTGAC	0.443000													25	31					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169961392	169961392	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:169961392A>C	ENST00000367765.1	-	11	2569	c.1068T>G	c.(1066-1068)aaT>aaG	p.N356K	KIFAP3_ENST00000540905.1_Missense_Mutation_p.N98K|KIFAP3_ENST00000361580.2_Missense_Mutation_p.N396K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.N352K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.N318K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	396					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTAGTTGTCATTGCCTAGGA	0.313000													11	35					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058026	152058026	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:152058026C>T	ENST00000368806.1	-	3	2196	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	711							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTTGCTCTTCCTTTCTCTTC	0.443000													61	198					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109527396	109527396	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:109527396C>T	ENST00000409271.1	-	8	1105	c.662G>A	c.(661-663)gGc>gAc	p.G221D	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Missense_Mutation_p.G221D			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CGCATGGGGGCCGTCACCTGG	0.597000													6	26					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233420	23233420	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:23233420G>A	ENST00000400191.3	+	11	2124	c.2106G>A	c.(2104-2106)atG>atA	p.M702I	EPHB2_ENST00000374632.3_Missense_Mutation_p.M703I|EPHB2_ENST00000374630.3_Missense_Mutation_p.M702I|EPHB2_ENST00000374627.1_Missense_Mutation_p.M697I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	702	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCGAGTTCATGGAGAATGGCT	0.567000													14	34					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7951740	7951740	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:7951740G>A	ENST00000380183.4	+	14	2027	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	ALOX15B_ENST00000572022.1_Missense_Mutation_p.E618K|ALOX15B_ENST00000573359.1_Missense_Mutation_p.E556K|ALOX15B_ENST00000380173.2_Missense_Mutation_p.E601K	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	630	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCACTTCACAGAGGAGGCCCC	0.662000													16	66					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673985	4673985	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:4673985T>A	ENST00000396952.5	+	2	879	c.229T>A	c.(229-231)Tcc>Acc	p.S77T	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCTCATCTCCACCTCATC	0.458000													16	60					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627088	108627088	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:108627088G>A	ENST00000264047.2	+	9	1790	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G400E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G505E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	505					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGAAAGTGGAACCTTGCCA	0.313000													23	59					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19456163	19456163	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:19456163C>T	ENST00000392313.5	+	12	1252	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	MAU2_ENST00000262815.8_Silent_p.F402F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	402					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AAGCCCAGTTCACCACGGCCC	0.642000													27	79					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109463	160109463	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:160109463G>A	ENST00000361216.3	+	21	2963	c.2874G>A	c.(2872-2874)gaG>gaA	p.E958E	ATP1A2_ENST00000392233.3_Silent_p.E958E	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	958					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTGGAGGAGACGGCGTTGG	0.572000													43	63					0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	48885451	48885451	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:48885451T>C	ENST00000402357.1	+	1	180	c.47T>C	c.(46-48)cTg>cCg	p.L16P		NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	16						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GCGACCGCCCTGCCCAGCATG	0.726000													3	2					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51759245	51759245	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:51759245C>T	ENST00000543196.2	-	4	988	c.783G>A	c.(781-783)caG>caA	p.Q261Q	GALNT6_ENST00000356317.3_Silent_p.Q261Q			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	261	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACCTCCGCCTGTGCCACGC	0.672000													5	59					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31025826	31025826	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:31025826C>T	ENST00000355537.3	+	3	2390	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCCTGGGCTCGGCCATGAAG	0.572000													21	120					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100205667	100205667	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:100205667C>T	ENST00000209668.2	-	5	569	c.456G>A	c.(454-456)gtG>gtA	p.V152V	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	152					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TTTCATCCACCACTGTGTACT	0.522000													27	72					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46391094	46391094	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:46391094C>T	ENST00000454345.1	+	6	1184	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	DGKZ_ENST00000527911.1_Silent_p.V165V|DGKZ_ENST00000456247.2_Silent_p.V164V|DGKZ_ENST00000318201.8_Silent_p.V165V|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000421244.2_Silent_p.V165V|DGKZ_ENST00000395574.3_Silent_p.V131V|DGKZ_ENST00000532868.2_Silent_p.V169V|DGKZ_ENST00000343674.6_Silent_p.V181V	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	353					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCAGGAATGTCCGCGAGGTAA	0.587000											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	51					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99709600	99709600	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:99709600G>A	ENST00000344095.4	-	8	1268	c.743C>T	c.(742-744)aCg>aTg	p.T248M	TAF6_ENST00000452041.1_Missense_Mutation_p.T248M|TAF6_ENST00000472509.1_Missense_Mutation_p.T305M|TAF6_ENST00000453269.2_Missense_Mutation_p.T248M|TAF6_ENST00000437822.2_Missense_Mutation_p.T285M|TAF6_ENST00000418432.2_Missense_Mutation_p.T172M	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	248					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCAGGGTCCGTGGCAATGCT	0.607000													13	33					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508306	71508306	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:71508306G>A	ENST00000396073.3	+	9	1444	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	388					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCTACTTCAAGAGGCAATTAT	0.468000													55	175					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701919	56701919	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:56701919C>T	ENST00000586855.2	-	5	1078	c.765G>A	c.(763-765)aaG>aaA	p.K255K	ZSCAN5B_ENST00000358992.3_Silent_p.K255K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	255					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCTGGGGTTCCTTCCCCTCCT	0.488000													38	87					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163924	73163924	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:73163924G>A	ENST00000545377.1	+	20	2473		c.e20-1		ARHGEF28_ENST00000296794.6_Splice_Site|ARHGEF28_ENST00000426542.2_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site|ARHGEF28_ENST00000513042.2_Splice_Site|ARHGEF28_ENST00000296799.4_Splice_Site	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CTCTCTCCTAGCTTCAGGAGG	0.512000													7	13					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25505414	25505414	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:25505414G>A	ENST00000264709.3	-	4	681	c.344C>T	c.(343-345)cCa>cTa	p.P115L	DNMT3A_ENST00000406659.3_Missense_Mutation_p.P115L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P115L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	115					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCTCTGCTGGGGCCCCGCC	0.657000			"""Mis, F, N, S"""		AML								14	35					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270717	1270717	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:1270717C>T	ENST00000348261.5	+	35	7033	c.6785C>T	c.(6784-6786)aCc>aTc	p.T2262I	CACNA1H_ENST00000565831.1_Missense_Mutation_p.T2256I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.T2256I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2262					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAGCACCTGACCGTCCCCAGC	0.687000													8	22					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110771024	110771024	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:110771024A>G	ENST00000395494.2	+	9	1705	c.1142A>G	c.(1141-1143)gAt>gGt	p.D381G	ATP2A2_ENST00000539276.2_Missense_Mutation_p.D408G|ATP2A2_ENST00000308664.6_Missense_Mutation_p.D408G			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	408	Interacts with phospholamban 1 (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CACCAGTATGATGGTCTGGTA	0.418000													80	175					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102567566	102567566	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:102567566C>T	ENST00000260229.4	-	5	711	c.619_splice	c.e5-1	p.G207_splice		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	207					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CAAGTTGAATCCTTGATAATA	0.403000													6	36					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529218	13529218	+	Missense_Mutation	SNP	C	C	T	rs149562504	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:13529218C>T	ENST00000318426.2	-	2	339	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	C12orf36_ENST00000532841.1_Missense_Mutation_p.R41Q|C12orf36_ENST00000527705.2_Missense_Mutation_p.R41Q|C12orf36_ENST00000539026.1_Missense_Mutation_p.R41Q|C12orf36_ENST00000531049.1_5'UTR					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		gtcagcccttcgtttcagagg	0.522000													9	45					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007662	6007662	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:6007662G>A	ENST00000332249.4	-	1	553	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCTCACCAGCACCACCATT	0.498000													10	49					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841918	5841918	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:5841918T>C	ENST00000317037.2	+	1	375	c.353T>C	c.(352-354)aTg>aCg	p.M118T	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTGCTCATGCTCATGGCC	0.537000													18	92					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6094739	6094739	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:6094739G>A	ENST00000261405.5	-	39	7145	c.6891C>T	c.(6889-6891)ccC>ccT	p.P2297P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2297	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTTGGCCGTGGGGCAGGGCT	0.652000													7	17					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910775	108910775	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:108910775C>T	ENST00000326853.5	+	3	695	c.242C>T	c.(241-243)cCt>cTt	p.P81L	SULT1C2_ENST00000409880.1_Missense_Mutation_p.P81L|SULT1C2_ENST00000251481.6_Missense_Mutation_p.P81L|SULT1C2_ENST00000437390.2_Missense_Mutation_p.P81L	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	81					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CACCGCCATCCTTTCATTGAG	0.527000													20	110					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239662	155239662	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:155239662G>A	ENST00000424344.3	+	10	1458	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.G385E|IL9R_ENST00000369423.2_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	385					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGCTCCCGGGGAACCTGAGC	0.652000													10	53					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924439	24924439	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:24924439G>A	ENST00000329468.2	+	1	3899	c.3425G>A	c.(3424-3426)gGa>gAa	p.G1142E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CACTACTATGGACAAGAAACA	0.453000													37	140					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85894911	85894911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:85894911G>A	ENST00000342375.3	-	3	221	c.86C>T	c.(85-87)tCc>tTc	p.S29F	SFTPB_ENST00000409383.1_Missense_Mutation_p.S41F|SFTPB_ENST00000519937.2_Missense_Mutation_p.S29F|SFTPB_ENST00000393822.3_Missense_Mutation_p.S41F	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	29	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.S29F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ACAGGCCAAGGATGAGGTGGT	0.577000													16	50					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28194115	28194115	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:28194115G>A	ENST00000302326.4	-	1	3371	c.2417C>T	c.(2416-2418)tCg>tTg	p.S806L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	806							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGAGCCCAGCGAGAGCGCGCC	0.672000			T	ETV6	"""AML, meningioma"""								17	41					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459645	142459645	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:142459645G>A	ENST00000486171.1	+	4	280	c.263G>A	c.(262-264)gGa>gAa	p.G88E	PRSS1_ENST00000311737.7_Missense_Mutation_p.G74E			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	74	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTGAGACTGGGAGAGCACAAC	0.567000													40	253					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39002915	39002915	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:39002915G>A	ENST00000355481.4	+	63	9395	c.9264G>A	c.(9262-9264)gtG>gtA	p.V3088V	RYR1_ENST00000359596.3_Silent_p.V3088V|RYR1_ENST00000360985.3_Silent_p.V3088V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3088					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAGATCGTGAAGGCTGGCC	0.627000													12	63					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206317619	206317619	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:206317619G>A	ENST00000361052.3	+	1	161	c.43G>A	c.(43-45)Gga>Aga	p.G15R	CTSE_ENST00000360218.2_Missense_Mutation_p.G15R|CTSE_ENST00000432969.2_5'UTR|CTSE_ENST00000358184.2_Missense_Mutation_p.G15R			P14091	CATE_HUMAN	cathepsin E	15					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCTGGAGCTGGGAGAGGCCCA	0.597000													14	62					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409113	33409113	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:33409113C>T	ENST00000418600.2	+	12	2178	c.2077C>T	c.(2077-2079)Cat>Tat	p.H693Y	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.H693Y|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.H634Y	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	693					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTCCACACTGCATGCCCTACT	0.552000													6	76					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880878	64880878	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:64880878G>A	ENST00000279263.7	+	4	653	c.491G>A	c.(490-492)gGg>gAg	p.G164E	TM7SF2_ENST00000540748.1_Missense_Mutation_p.G48E|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G164E	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	164					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCACCTGGGGGGAACTCAGGT	0.582000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	99					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618548	77618548	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:77618548C>T	ENST00000521891.2	+	2	2673	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S742F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S742F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S742F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	742						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)			TTTGGCCACTCTGCCCCAGCC	0.517000										HNSCC(33;0.089)			18	35					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178548751	178548751	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:178548751C>T	ENST00000251582.7	-	21	3190	c.3088_splice	c.e21-1	p.R1030_splice		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1030					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAGATGTTTCCTAGAGGGAG	0.667000													41	142					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848616	73848616	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:73848616G>A	ENST00000523207.1	+	3	1614	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	342					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TATTGTTTCTGGCCATGGGGA	0.473000													61	192					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711179	41711179	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:41711179C>T	ENST00000400454.1	-	7	1851	c.1374G>A	c.(1372-1374)atG>atA	p.M458I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	458	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGACGTGATCATCTGGCTGA	0.607000													23	57					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725904	87725904	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:87725904C>T	ENST00000305344.4	+	2	1555	c.852C>T	c.(850-852)acC>acT	p.T284T	HTR1E_ENST00000369584.1_Silent_p.T284T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	284					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTCTAGCACCAGGGAACGGA	0.507000													89	123					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852997	15852997	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:15852997G>A	ENST00000305892.1	+	1	795	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCAAACCCAAGGGCCTCCATT	0.507000													26	161					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20039425	20039425	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:20039425C>T	ENST00000400230.2	-	9	690	c.646G>A	c.(646-648)Gga>Aga	p.G216R	TPTE2_ENST00000382978.1_Missense_Mutation_p.G176R|TPTE2_ENST00000390680.2_Missense_Mutation_p.G139R|TPTE2_ENST00000382977.4_Missense_Mutation_p.G216R|TPTE2_ENST00000457266.2_Missense_Mutation_p.G105R|TPTE2_ENST00000255310.6_Missense_Mutation_p.G139R|TPTE2_ENST00000400103.2_Missense_Mutation_p.G105R|TPTE2_ENST00000382975.4_Missense_Mutation_p.G176R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	216	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGGTCAAATCCATCCCTTGTG	0.308000													27	165					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100505506	100505506	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:100505506G>A	ENST00000395209.3	+	15	2162	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	DRP2_ENST00000538510.1_Silent_p.L545L|DRP2_ENST00000541709.1_Silent_p.L467L|DRP2_ENST00000402866.1_Silent_p.L545L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	545					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCGTCAGCTGGGTGAAGTGG	0.602000													40	26					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497524	50497524	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:50497524C>T	ENST00000267842.5	+	4	1168	c.936C>T	c.(934-936)atC>atT	p.I312I	SLC27A2_ENST00000544960.1_Silent_p.I77I|SLC27A2_ENST00000380902.4_Silent_p.I259I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	312					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTCAGTATATCGGTGAACTGC	0.428000													50	125					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724592	14724592	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:14724592C>T	ENST00000253697.3	+	3	824	c.372C>T	c.(370-372)gcC>gcT	p.A124A	C3orf20_ENST00000412910.1_Silent_p.A2A|C3orf20_ENST00000435614.1_Silent_p.A2A	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	124						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCACCATGGCCCGTCAGGTGC	0.622000													7	16					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382142	135382142	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:135382142C>T	ENST00000442011.2	+	4	578	c.417C>T	c.(415-417)acC>acT	p.T139T	TGFBI_ENST00000305126.8_Silent_p.T139T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	139	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCTTCACCATCTTCGCCC	0.622000													3	24					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4099247	4099247	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:4099247G>A	ENST00000262948.5	-	7	1124	c.871C>T	c.(871-873)Cct>Tct	p.P291S	MAP2K2_ENST00000394867.4_Missense_Mutation_p.P194S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	291	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCTGTGAGGCTCTCCTTCT	0.711000													5	7					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396957	396957	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:396957G>A	ENST00000262320.3	-	2	440	c.69C>T	c.(67-69)ccC>ccT	p.P23P	AXIN1_ENST00000354866.3_Silent_p.P23P|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	23					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGCACTGGGGGTCGGGGAG	0.562000													18	59					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821650	129821650	+	RNA	SNP	G	G	A	rs56088005	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:129821650G>A	ENST00000500074.2	-	0	495																											GGTTGCGGACGGTAAAGGCCA	0.667000													8	111					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228405	204228405	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:204228405G>T	ENST00000272203.3	-	8	1304	c.988C>A	c.(988-990)Ccg>Acg	p.P330T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P350T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	330	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTTCAGGCGGGGGTACCCCC	0.622000													17	58					2.94398e-08	2.96769e-08	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78695301	78695301	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:78695301C>T	ENST00000436010.2	-	19	3759	c.2762G>A	c.(2761-2763)gGg>gAg	p.G921E	ROBO1_ENST00000467549.1_Missense_Mutation_p.G915E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G960E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G915E			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	960					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TAATTACCTCCCTCCACTGCT	0.348000													26	67					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854502	18854502	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:18854502C>T	ENST00000538330.1	-	5	677	c.296G>A	c.(295-297)gGa>gAa	p.G99E	PLCZ1_ENST00000539875.1_Splice_Site_p.G124_splice|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Splice_Site_p.G317_splice|PLCZ1_ENST00000435379.1_Splice_Site_p.G122_splice|PLCZ1_ENST00000447925.2_Splice_Site_p.G315_splice|PLCZ1_ENST00000541695.1_Splice_Site_p.G180_splice			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGATTGTCTCCTAAAACAGA	0.433000													30	70					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6462112	6462112	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:6462112G>A	ENST00000265983.3	-	1	182	c.83_splice	c.e1+1	p.P28_splice	HPX_ENST00000525057.1_Intron	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	28	O-glycosylated at one, two and three sites.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TTTACTCACGGAGGAAGAGGG	0.572000													6	20					0	0	1	0	0
OCM	654231	broad.mit.edu	37	7	5922155	5922155	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:5922155C>T	ENST00000242104.5	+	2	185	c.93C>T	c.(91-93)ttC>ttT	p.F31F	OCM_ENST00000416608.1_Silent_p.F31F	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	31							calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		AAAAATTCTTCCAGACATCAG	0.458000													84	215					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489600	44489600	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:44489600G>A	ENST00000425708.2	-	7	1904	c.1563C>T	c.(1561-1563)gcC>gcT	p.A521A	ZNF445_ENST00000396077.2_Silent_p.A521A			P59923	ZN445_HUMAN	zinc finger protein 445	521					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCACCGGAAGGCTTTCCCAC	0.468000													28	109					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				70	92					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847091	7847091	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:7847091G>A	ENST00000328375.1	-	1	428	c.429C>T	c.(427-429)atC>atT	p.I143I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCCCACTAAGATGATGCAGA	0.517000													22	81					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386459	45386459	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:45386459G>A	ENST00000389039.6	-	34	4921	c.4536C>T	c.(4534-4536)atC>atT	p.I1512I	DUOX2_ENST00000603300.1_Silent_p.I1512I			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1512					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGAACACCCCGATCTTGCGCA	0.572000													12	48					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178372732	178372732	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:178372732C>T	ENST00000264167.4	+	16	1726	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	527					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTAGGAGAATCTTTTGAGACT	0.323000													20	83					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361448	62361448	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:62361448G>A	ENST00000278823.2	-	18	2295	c.1906C>T	c.(1906-1908)Ctg>Ttg	p.L636L	MTA2_ENST00000527204.1_Silent_p.L463L|MTA2_ENST00000524902.1_Silent_p.L463L	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	636					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TTCACCTTCAGGGGCAAGTTG	0.597000											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	86					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30701805	30701805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:30701805C>T	ENST00000471646.1	-	7	1142	c.725G>A	c.(724-726)tGg>tAg	p.W242*	CRHR2_ENST00000341843.4_Nonsense_Mutation_p.W228*|CRHR2_ENST00000506074.2_Nonsense_Mutation_p.W242*|CRHR2_ENST00000348438.4_Nonsense_Mutation_p.W269*	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	242					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCGATGGCCCAGGCGACGAT	0.562000													24	65					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33626514	33626514	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:33626514A>G	ENST00000374316.5	+	6	1497	c.437A>G	c.(436-438)aAc>aGc	p.N146S	ITPR3_ENST00000605930.1_Missense_Mutation_p.N146S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	146	MIR 1.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGGAGAAGAACGCCATGCGG	0.612000													45	174					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16338446	16338446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:16338446C>T	ENST00000291439.3	+	7	1210	c.761C>T	c.(760-762)tCc>tTc	p.S254F	AP1M1_ENST00000590756.1_Missense_Mutation_p.S182F|AP1M1_ENST00000444449.2_Missense_Mutation_p.S266F|AP1M1_ENST00000541844.1_Missense_Mutation_p.S182F|AP1M1_ENST00000429941.2_Missense_Mutation_p.S254F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	254	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGCACCATCTCCTTCATCCCA	0.617000													62	132					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957568	111957568	+	Missense_Mutation	SNP	G	G	A	rs113984808	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:111957568G>A	ENST00000369732.3	-	11	1610	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	519					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTTTCCCCAGGGGTCACAGAC	0.567000													47	55					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438295	25438295	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:25438295G>A	ENST00000424208.1	+	0	1154				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GAGCCTGGAGGAAGACTTGAA	0.592000													6	21					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24166055	24166055	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:24166055C>T	ENST00000303531.7	+	10	1268	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	PRKCB_ENST00000321728.7_Silent_p.I372I	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	372	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGTGAAGATCCTGAAGAAGG	0.557000													14	44					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885750	60885750	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:60885750G>A	ENST00000252999.3	-	75	10483	c.10417C>T	c.(10417-10419)Ccg>Tcg	p.P3473S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3473	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCTGGCCGGGAGGCCGCCC	0.711000													6	16					0	0	1	0	0
WDR73	84942	broad.mit.edu	37	15	85188820	85188820	+	Silent	SNP	G	G	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:85188820G>C	ENST00000434634.2	-	7	825	c.765C>G	c.(763-765)ccC>ccG	p.P255P	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	255										cervix(1)|large_intestine(1)|lung(1)	3						AGAGATCCCGGGGGTCAAGAA	0.622000													7	15					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142457350	142457350	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:142457350G>A	ENST00000486171.1	+	1	32	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PRSS1_ENST00000311737.7_Silent_p.L5L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	5					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCCACTCCTGATCCTTACCT	0.567000													38	169					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10435402	10435402	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:10435402C>T	ENST00000377086.1	+	48	5581	c.5379C>T	c.(5377-5379)gcC>gcT	p.A1793A	KIF1B_ENST00000263934.6_Silent_p.A1747A|KIF1B_ENST00000377081.1_Silent_p.A1793A			O60333	KIF1B_HUMAN	kinesin family member 1B	1793	PH.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTTGTATGCCTTCAACCCAC	0.458000													49	118					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825445	21825445	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:21825445C>T	ENST00000426869.3	+	0	149					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		cctgacttctccacggggtac	0.642000													8	33					0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174820388	174820388	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:174820388C>T	ENST00000310015.6	-	4	1382	c.852G>A	c.(850-852)caG>caA	p.Q284Q	SP3_ENST00000418194.2_Silent_p.Q216Q|SP3_ENST00000455789.2_Silent_p.Q231Q	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	284					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CAGTCATTGTCTGAGAACTGC	0.443000													31	148					0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765341	19765341	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:19765341C>T	ENST00000405844.1	-	3	950	c.255G>A	c.(253-255)ctG>ctA	p.L85L	TMEM196_ENST00000433641.1_Silent_p.L17L|TMEM196_ENST00000493519.1_Silent_p.L17L|TMEM196_ENST00000422233.1_Silent_p.L17L|TMEM196_ENST00000405764.3_Silent_p.L85L			Q5HYL7	TM196_HUMAN	transmembrane protein 196	91						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACTGAAAATTCAGGATGCCCC	0.493000													23	70					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44072484	44072484	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:44072484G>A	ENST00000359947.4	+	21	4042		c.e21-1		PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000422171.2_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGGGCCACAGAAGCGCTATG	0.627000													28	105					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3784082	3784082	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:3784082C>T	ENST00000245960.5	+	14	2085	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	CDC25B_ENST00000439880.2_Missense_Mutation_p.A449V|CDC25B_ENST00000340833.4_Missense_Mutation_p.A422V|CDC25B_ENST00000379598.5_Missense_Mutation_p.A372V|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.A399V	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	463	Rhodanese.				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAACGCGACGCCGAGAGCTTC	0.627000													26	58					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092452	35092452	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:35092452G>A	ENST00000378617.3	-	7	1826	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.P478S	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	478					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGCAGAATGGAAAGCCTGGG	0.567000													42	70					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453126	195453126	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:195453126C>T	ENST00000320736.6	+	3	1265	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	MUC20_ENST00000445522.2_Missense_Mutation_p.P516L|MUC20_ENST00000447234.2_Missense_Mutation_p.P551L|MUC20_ENST00000436408.1_Missense_Mutation_p.P551L	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	551	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GGAGCAGCTCCGGTCTCCATA	0.552000													8	66					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946003	144946003	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:144946003C>T	ENST00000525985.1	-	2	1490	c.1419G>A	c.(1417-1419)cgG>cgA	p.R473R				P58107	EPIPL_HUMAN	epiplakin 1	473						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCCCCTCCCCGGGGTCCCC	0.692000													12	21					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463672	25463672	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:25463672C>T	ENST00000424208.1	+	0	2955				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						AAGCTCCAGCCCTTCCTGGTG	0.602000													45	117					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756559	94756559	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:94756559G>A	ENST00000554723.1	-	2	910	c.492C>T	c.(490-492)atC>atT	p.I164I	SERPINA10_ENST00000393096.1_Silent_p.I124I|SERPINA10_ENST00000261994.4_Silent_p.I124I|SERPINA10_ENST00000554173.1_Silent_p.I124I			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	124					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCCCTCTCTTGATCTGGGTTT	0.597000													22	56					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50897070	50897070	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:50897070C>T	ENST00000313478.7	-	21	3262	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	TRPM7_ENST00000560955.1_Missense_Mutation_p.G994E	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	994					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TACCATTTTTCCAATCATCAT	0.299000													9	43					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272390	1272390	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:1272390C>T	ENST00000447027.1	+	31	14347	c.14289C>T	c.(14287-14289)acC>acT	p.T4763T	MUC5B_ENST00000529681.1_Silent_p.T4760T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4760	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCTGTGGACCACGTGGACCG	0.582000													17	74					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73574739	73574739	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:73574739G>A	ENST00000224721.6	+	69	9789	c.9784G>A	c.(9784-9786)Gga>Aga	p.G3262R	CDH23_ENST00000398788.3_Missense_Mutation_p.G1017R|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3257					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGAGGAGCCAGGAGACCACAG	0.667000													9	15					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138658408	138658408	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:138658408G>A	ENST00000394800.2	+	16	2449	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	MATR3_ENST00000503811.1_Missense_Mutation_p.D346N|MATR3_ENST00000504203.1_Missense_Mutation_p.D296N|MATR3_ENST00000509990.1_Missense_Mutation_p.D634N|MATR3_ENST00000510056.1_Missense_Mutation_p.D634N|MATR3_ENST00000361059.2_Missense_Mutation_p.D634N|MATR3_ENST00000394805.3_Missense_Mutation_p.D634N|MATR3_ENST00000502499.1_Missense_Mutation_p.D296N|MATR3_ENST00000502929.1_Missense_Mutation_p.D634N			P43243	MATR3_HUMAN	matrin 3	634						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCCGGTGAAGATGGTGAGAA	0.428000													25	40					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70048327	70048327	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:70048327C>T	ENST00000358769.2	-	8	806	c.604G>A	c.(604-606)Gga>Aga	p.G202R	PBLD_ENST00000336578.1_Missense_Mutation_p.G169R|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000309049.4_Missense_Mutation_p.G202R|PBLD_ENST00000432941.1_Missense_Mutation_p.G202R|PBLD_ENST00000277795.4_3'UTR	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	202					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAGGCTCTCCTTTAAGGGTA	0.458000													15	42					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49920509	49920509	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:49920509C>T	ENST00000447857.3	+	19	1738	c.1533C>T	c.(1531-1533)ccC>ccT	p.P511P		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	511						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TCTGCCTGCCCCCACAGCGGC	0.652000													3	15					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	28807516	28807516	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:28807516T>A	ENST00000378993.1	+	2	729	c.56T>A	c.(55-57)tTg>tAg	p.L19*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.L19*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	19	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACTCAGAGTTTGAAGGTTGTG	0.383000													28	23					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546416	11546416	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:11546416C>T	ENST00000389362.4	-	3	631	c.596G>A	c.(595-597)gGa>gAa	p.G199E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.597000													67	462					0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88442785	88442785	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:88442785G>A	ENST00000261304.2	-	7	775	c.669C>T	c.(667-669)atC>atT	p.I223I	GALC_ENST00000544807.2_Silent_p.I167I|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Silent_p.I200I|GALC_ENST00000393569.2_Silent_p.I197I	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	223					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTTGCTATGATTTTCACTC	0.378000													19	40					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66942342	66942342	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:66942342C>T	ENST00000299752.4	-	18	2636	c.2443G>A	c.(2443-2445)Gac>Aac	p.D815N	CDH16_ENST00000570262.1_Missense_Mutation_p.D735N|CDH16_ENST00000394055.3_Missense_Mutation_p.D793N|CDH16_ENST00000565796.1_Missense_Mutation_p.D776N|CDH16_ENST00000568632.1_Missense_Mutation_p.D718N	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	815					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGATCCGGGTCCTTCTTCCTT	0.587000													14	79					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	50					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35441163	35441163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:35441163G>A	ENST00000237536.4	-	6	2742	c.2401C>T	c.(2401-2403)Ccc>Tcc	p.P801S	SOGA1_ENST00000279034.5_Missense_Mutation_p.P563S|SOGA1_ENST00000357779.3_Missense_Mutation_p.P563S|SOGA1_ENST00000456801.2_Missense_Mutation_p.P404S	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	563										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTCCGGCTGGGGTCGGGCTTA	0.602000													13	20					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338397	13338397	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:13338397C>T	ENST00000602906.1	+	0	415																				kidney(3)|lung(1)	4						CAAAGCTGATCTCATAAATAA	0.438000													38	77					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85562048	85562048	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:85562048G>A	ENST00000295887.5	+	10	1360	c.937G>A	c.(937-939)Gat>Aat	p.D313N		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	313					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATACCGAAGTGATGTAAACTC	0.403000													65	158					0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45048923	45048923	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:45048923G>A	ENST00000265564.7	+	7	675	c.627G>A	c.(625-627)cgG>cgA	p.R209R	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		TTGGCTATCGGCATGTGGTGG	0.612000													13	24					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477563	88477563	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:88477563C>T	ENST00000267549.3	+	2	930	c.372C>T	c.(370-372)ttC>ttT	p.F124F	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	124					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AGTTTTTTTTCCTAAGGACAA	0.418000													81	164					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228434484	228434484	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:228434484C>T	ENST00000570156.2	+	14	4363	c.4289C>T	c.(4288-4290)tCc>tTc	p.S1430F	OBSCN_ENST00000284548.11_Missense_Mutation_p.S1338F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1338F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	413	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCGGCTCTCCTTCCACCTG	0.592000													53	112					0	0	1	0	0
CFC1	55997	broad.mit.edu	37	2	131356259	131356259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:131356259C>T	ENST00000259216.4	-	3	465	c.203G>A	c.(202-204)tGg>tAg	p.W68*		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	68					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					CTCCGGCCCCCAGCCCTCGGC	0.627000													11	98					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084790	9084790	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9084790G>A	ENST00000397910.4	-	1	7228	c.7025C>T	c.(7024-7026)tCa>tTa	p.S2342L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2342	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2342L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTATCCAGTGAAACTGTGCT	0.463000													18	21					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859739	43859739	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:43859739G>A	ENST00000378009.4	+	0	421				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CAGCAAAAGTGGGGTGCAGAG	0.527000													7	23					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10166414	10166414	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:10166414C>T	ENST00000495140.1	+	0	1772																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GGAGAAGGGCCCTGTGGTCAT	0.562000													17	39					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819167	20819167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:20819167G>A	ENST00000328879.4	-	4	1246	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	KLHL22_ENST00000440659.2_Nonsense_Mutation_p.R221*	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	364					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GACTCTGCTCGAAATCCTTGG	0.567000													30	97					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925499	133925499	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:133925499G>T	ENST00000220616.4	+	20	4407	c.4367G>T	c.(4366-4368)gGa>gTa	p.G1456V	TG_ENST00000377869.1_Missense_Mutation_p.G1456V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1456					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTCAGGACGGACTGGGATGC	0.572000													20	38					8.00594e-06	8.03805e-06	1	1	0
FLNB	2317	broad.mit.edu	37	3	58104641	58104641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:58104641C>T	ENST00000357272.4	+	19	2953	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	FLNB_ENST00000493452.1_Missense_Mutation_p.P761S|FLNB_ENST00000295956.4_Missense_Mutation_p.P930S|FLNB_ENST00000490882.1_Missense_Mutation_p.P930S|FLNB_ENST00000429972.2_Missense_Mutation_p.P930S|FLNB_ENST00000419752.2_Missense_Mutation_p.P761S|FLNB_ENST00000348383.5_Missense_Mutation_p.P930S|FLNB_ENST00000358537.3_Missense_Mutation_p.P930S			O75369	FLNB_HUMAN	filamin B, beta	930					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGATCCCATCCCTAAAAGCCC	0.478000													43	91					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550372	39550372	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:39550372C>T	ENST00000251645.2	-	7	1199	c.1147G>A	c.(1147-1149)Gga>Aga	p.G383R		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	383	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGACAGGGTCCGATGGGCTTG	0.572000													21	56					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316221	72316221	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:72316221G>A	ENST00000340595.3	+	7	1233	c.1037G>A	c.(1036-1038)aGg>aAg	p.R346K	SLC4A4_ENST00000512686.1_Missense_Mutation_p.R346K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R390K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R390K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.R390K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	390						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGCAATTAGGATAGAGCCT	0.438000													20	40					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661022	35661022	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:35661022C>T	ENST00000216106.5	+	5	769	c.641C>T	c.(640-642)cCc>cTc	p.P214L	HMGXB4_ENST00000444518.2_Missense_Mutation_p.P105L	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	214					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTCAATATCCCTCCCAACAA	0.443000													66	160					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367842	142367842	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:142367842C>T	ENST00000377741.3	-	2	272	c.182G>A	c.(181-183)gGa>gAa	p.G61E		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	61						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GAAGATGGCTCCGTGCACCGC	0.657000													17	45					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764269	169764269	+	Missense_Mutation	SNP	C	C	T	rs147360987	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:169764269C>T	ENST00000375363.3	+	5	840	c.748C>T	c.(748-750)Cac>Tac	p.H250Y	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	250					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CGACTGGATCCACATTGACAC	0.527000													20	73					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7768994	7768994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:7768994C>T	ENST00000358415.4	+	10	1232	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	ITIH2_ENST00000379587.4_Nonsense_Mutation_p.R345*	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	356	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAGAACATTCGAACTTGGAG	0.398000													37	60					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089176	220089176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:220089176C>T	ENST00000366926.3	-	4	1234	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	SLC30A10_ENST00000536446.1_Missense_Mutation_p.G113E|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	358					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)		ATCTTGATATCCCCTGTCCTT	0.458000													51	134					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590734	179590734	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:179590734G>A	ENST00000589042.1	-	70	20539	c.20315C>T	c.(20314-20316)aCc>aTc	p.T6772I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T5528I|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T6455I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6455	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTTAAGGGTTTCTACTAT	0.403000													8	45					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611589	61611589	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:61611589C>T	ENST00000583023.1	+	5	1029	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	KCNH6_ENST00000580652.1_Missense_Mutation_p.H340Y|KCNH6_ENST00000314672.5_Missense_Mutation_p.H340Y|KCNH6_ENST00000581784.1_Missense_Mutation_p.H340Y|KCNH6_ENST00000456941.2_Missense_Mutation_p.H340Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	340					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CATCGCCGTCCACTACTTCAA	0.587000													35	57					0	0	1	0	0
DEFB131	644414	broad.mit.edu	37	4	9446267	9446267	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:9446267T>C	ENST00000334879.1	+	1	8	c.8T>C	c.(7-9)gTc>gCc	p.V3A		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	3					defense response to bacterium	extracellular region				lung(2)	2						ACCATGAGGGTCTTGTTTTTT	0.373000													74	109					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:127912080G>A	ENST00000451402.1	-	8	1121	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000													21	32					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356304	40356304	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:40356304G>A	ENST00000310169.2	+	5	1346	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	403					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTTAAAGAACGACCTGGGCTG	0.483000													36	46					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19359662	19359662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:19359662G>A	ENST00000252575.5	+	14	3834	c.3791G>A	c.(3790-3792)tGg>tAg	p.W1264*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.W715*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1264	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AATGGCAAGTGGGACAGGCCC	0.473000													10	63					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151309	139151309	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:139151309G>A	ENST00000395297.1	-	18	3991	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1274										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGAGACCCGGATTTCTTCAG	0.398000										HNSCC(54;0.14)			21	96					0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199631	178199631	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:178199631C>T	ENST00000503486.2	-	0	904					NR_024035.1																						CAAAGGAGTCCACTGTGGAGA	0.607000													4	13					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369244	20369244	+	RNA	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:20369244T>C	ENST00000593655.1	-	0	199																											ACGATCAATGTTAGAAGTTAA	0.403000													51	128					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35695516	35695516	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:35695516G>A	ENST00000373664.3	-	5	631	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	RBL1_ENST00000344359.3_Missense_Mutation_p.R189W	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	189					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAATCATCCGAAAATTACCT	0.353000													23	66					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70963633	70963633	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:70963633G>C	ENST00000334414.6	-	14	3500	c.3456C>G	c.(3454-3456)gaC>gaG	p.D1152E	PTPRB_ENST00000550358.1_Missense_Mutation_p.D1064E|PTPRB_ENST00000538708.1_Missense_Mutation_p.D934E|PTPRB_ENST00000550857.1_Missense_Mutation_p.D844E|PTPRB_ENST00000451516.2_Missense_Mutation_p.D844E|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1151E|PTPRB_ENST00000261266.5_Missense_Mutation_p.D934E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	934	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGAATCAACGTCTCCCCCAC	0.478000													23	41					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626297	12626297	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:12626297G>A	ENST00000425538.1	+	5	587	c.387G>A	c.(385-387)gtG>gtA	p.V129V	MYOCD_ENST00000395988.1_Silent_p.V33V|MYOCD_ENST00000343344.4_Silent_p.V129V	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	129					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCTTCCTGTGGATTCTGCTG	0.478000													50	133					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40275410	40275410	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:40275410A>T	ENST00000302541.6	+	12	2308	c.1966A>T	c.(1966-1968)Aca>Tca	p.T656S	MYRIP_ENST00000444716.1_Missense_Mutation_p.T656S|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Missense_Mutation_p.T567S|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.T469S	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	656	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CATCAATGCCACAGAGGAGTT	0.507000													27	62					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056249	44056249	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:44056249G>A	ENST00000262887.5	-	9	1549	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	XRCC1_ENST00000543982.1_Silent_p.F303F			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	334	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCTCGGAGCGGAAGGGGTTCT	0.647000								Other BER factors					11	60					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897748	166897748	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:166897748C>T	ENST00000423058.2	-	13	2425	c.2408G>A	c.(2407-2409)gGa>gAa	p.G803E	SCN1A_ENST00000303395.4_Missense_Mutation_p.G803E|SCN1A_ENST00000375405.3_Missense_Mutation_p.G792E|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G775E|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	803						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TACCAAGTTTCCTACTGTAAG	0.363000													13	68					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16470714	16470714	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:16470714G>A	ENST00000395824.1	-	2	949	c.332C>T	c.(331-333)tCc>tTc	p.S111F	ZNF287_ENST00000395825.3_Missense_Mutation_p.S111F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	104	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGGATACTGGGACTTTACCCA	0.502000													37	99					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228433355	228433355	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:228433355G>A	ENST00000570156.2	+	13	4073	c.3999G>A	c.(3997-3999)ggG>ggA	p.G1333G	OBSCN_ENST00000284548.11_Silent_p.G1241G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G1241G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	314	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAGGCTGGGGGCCAGAGAG	0.512000													37	107					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432818	179432818	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:179432818G>A	ENST00000589042.1	-	326	78265	c.78041C>T	c.(78040-78042)cCa>cTa	p.P26014L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16949L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23446L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17074L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24373L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17141L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24373	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGTTGACTGGTTCATGCCA	0.443000													10	80					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938469	38938469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:38938469G>A	ENST00000302328.3	-	14	2468	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	SCN11A_ENST00000444237.2_Missense_Mutation_p.S757F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S757F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S757F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	757					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CACTAGGAAGGAGTGCCAGAA	0.488000													27	68					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52570057	52570057	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:52570057C>T	ENST00000395961.3	-	11	1760	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	BCAS1_ENST00000371440.3_Missense_Mutation_p.D541N|BCAS1_ENST00000371435.2_Missense_Mutation_p.D454N|BCAS1_ENST00000434986.2_Missense_Mutation_p.D198N	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	532						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GAGTTCGTGTCCACCGTGGCC	0.542000													32	102					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054402	102054402	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:102054402A>G	ENST00000318222.3	-	9	1931	c.1549T>C	c.(1549-1551)Ttc>Ctc	p.F517L	PKD2L1_ENST00000353274.3_Missense_Mutation_p.F517L|PKD2L1_ENST00000338519.3_Missense_Mutation_p.F442L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	517					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ATTATCCGGAACTGAGTGAAA	0.512000													7	100					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22782762	22782762	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:22782762G>A	ENST00000400546.1	+	10	1613	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	NCAM2_ENST00000284894.7_Missense_Mutation_p.G313E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	455	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TATAGTACAGGAAGAAAGATG	0.294000													32	101					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617037	1617037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:1617037C>T	ENST00000381580.1	-	3	625	c.446G>A	c.(445-447)tGg>tAg	p.W149*	SIRPG_ENST00000303415.3_Nonsense_Mutation_p.W182*|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Nonsense_Mutation_p.W182*|SIRPG_ENST00000216927.4_Nonsense_Mutation_p.W182*|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	182	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATTTTTGAACCATTTCAGGGT	0.567000													26	95					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1392547	1392547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:1392547G>A	ENST00000378785.2	+	8	1723	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	243							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCTTCCTTCGGAAGCGAGCC	0.642000													42	37					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2326779	2326779	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:2326779C>T	ENST00000301732.5	-	33	5711	c.5011G>A	c.(5011-5013)Gaa>Aaa	p.E1671K	ABCA3_ENST00000382381.3_Missense_Mutation_p.E1613K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1671					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCGTACTTTTCCTTGGCTTTC	0.602000													17	53					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043600	20043600	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:20043600G>T	ENST00000570682.1	-	2	819	c.519C>A	c.(517-519)gaC>gaA	p.D173E		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	173						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCTGATGTAGTCTTCAGTCC	0.512000													26	62					4.26978e-12	4.32157e-12	1	1	0
C7	730	broad.mit.edu	37	5	40936475	40936475	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:40936475G>A	ENST00000313164.9	+	5	675	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	106	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTGCAATGGGGATTCTGACTG	0.453000													12	37					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47969758	47969758	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:47969758C>T	ENST00000318711.7	+	22	2783	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	DIP2A_ENST00000400274.1_Missense_Mutation_p.S862L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S866L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S802L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S866L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	866					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGGATGCCTCGGAGGAGGAC	0.642000													6	101					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96116935	96116935	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:96116935C>T	ENST00000371361.3	-	4	604	c.504G>A	c.(502-504)aaG>aaA	p.K168K	NOC3L_ENST00000371350.1_Silent_p.K168K|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	168						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACTCACCTGGCTTCTCCCTAG	0.323000													46	80					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7808948	7808948	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:7808948A>G	ENST00000380358.4	+	27	4326	c.4325A>G	c.(4324-4326)cAg>cGg	p.Q1442R	CHD3_ENST00000358181.4_Missense_Mutation_p.Q1383R|CHD3_ENST00000330494.7_Missense_Mutation_p.Q1383R	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1383					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGGCGTAGACAGTCAAAGAGG	0.567000													6	8					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90050957	90050957	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:90050957G>A	ENST00000405460.2	+	55	11631	c.11535G>A	c.(11533-11535)atG>atA	p.M3845I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3845	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATAATAATGAAAGAAAACA	0.343000													15	52					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133636	91133636	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:91133636G>A	ENST00000373094.1	+	2	3242	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	PCDH11X_ENST00000361724.1_Silent_p.E799E|PCDH11X_ENST00000406881.1_Silent_p.E799E|PCDH11X_ENST00000373097.1_Silent_p.E799E|PCDH11X_ENST00000361655.2_Silent_p.E799E|PCDH11X_ENST00000504220.1_Silent_p.E799E|PCDH11X_ENST00000395337.2_Silent_p.E799E|PCDH11X_ENST00000298274.8_Silent_p.E799E|PCDH11X_ENST00000373088.1_Silent_p.E799E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	799					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAATACTGAGATAGCTGATG	0.443000													60	36					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024398	76024398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:76024398G>A	ENST00000393004.2	-	5	1371	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	FILIP1_ENST00000370020.1_Nonsense_Mutation_p.R285*|FILIP1_ENST00000237172.7_Nonsense_Mutation_p.R384*|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	384										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACACGCTTTCGAAGATTTTCC	0.418000													42	194					0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38340502	38340502	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:38340502C>T	ENST00000249079.2	-	6	760	c.504G>A	c.(502-504)agG>agA	p.R168R	C22orf23_ENST00000403026.1_Silent_p.R168R|C22orf23_ENST00000403305.1_Silent_p.R168R			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	168										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GGAATTCTTTCCTCTCCTGGA	0.547000													26	65					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118786967	118786967	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:118786967G>A	ENST00000394610.1	-	4	642	c.378C>T	c.(376-378)ttC>ttT	p.F126F	SEPT6_ENST00000489216.1_Silent_p.F126F|SEPT6_ENST00000394616.4_Silent_p.F68F|SEPT6_ENST00000354228.4_Silent_p.F126F|SEPT6_ENST00000360156.7_Silent_p.F126F|SEPT6_ENST00000354416.3_Silent_p.F126F|SEPT6_ENST00000394617.2_Silent_p.F156F|SEPT6_ENST00000343984.5_Silent_p.F126F	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	126					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTAGGCCTCGAATTGTGCAT	0.502000			T	MLL	AML								28	15					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43222803	43222803	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:43222803G>A	ENST00000259750.4	+	7	676	c.593G>A	c.(592-594)gGg>gAg	p.G198E	TTBK1_ENST00000304139.5_Missense_Mutation_p.G147E	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	198	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AATGTGGCCGGGTTTCGAGGA	0.597000													17	36					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126303	121126303	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:121126303C>T	ENST00000273666.6	+	24	3144	c.2873C>T	c.(2872-2874)gCc>gTc	p.A958V	STXBP5L_ENST00000471454.1_Missense_Mutation_p.A934V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A932V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A958V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A934V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	958					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAAAACAAGCCAAAGTCTTC	0.388000													56	124					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453125	195453125	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:195453125C>T	ENST00000320736.6	+	3	1264	c.1138C>T	c.(1138-1140)Ccg>Tcg	p.P380S	MUC20_ENST00000445522.2_Missense_Mutation_p.P516S|MUC20_ENST00000447234.2_Missense_Mutation_p.P551S|MUC20_ENST00000436408.1_Missense_Mutation_p.P551S	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	551	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGGAGCAGCTCCGGTCTCCAT	0.552000													8	65					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246750	55246750	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:55246750G>A	ENST00000291860.1	+	6	998	c.980G>A	c.(979-981)gGg>gAg	p.G327E	KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	327						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GTTCTGATTGGGACCTCAGTG	0.458000													35	76					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679259	176679259	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:176679259G>A	ENST00000367662.3	+	11	4762	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1200					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCCTCTCATGAAGACAAGAA	0.443000													46	79					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473026	22473026	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:22473026G>A	ENST00000557788.2	-	0	244																											ACTCTTGAGGGACGGGTTGTA	0.567000													44	463					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10228260	10228260	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:10228260C>T	ENST00000377157.3	+	23	3591	c.2530C>T	c.(2530-2532)Ctg>Ttg	p.L844L	UBE4B_ENST00000343090.6_Silent_p.L1089L|UBE4B_ENST00000253251.8_Silent_p.L960L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1089					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTACCTCGCCCTGGCCACCGA	0.582000													11	38					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416195	153416195	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:153416195G>A	ENST00000369951.4	+	2	240	c.180G>A	c.(178-180)atG>atA	p.M60I	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	60					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTCTGGATGATCTTTGTGG	0.577000													35	36					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768537	148768537	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:148768537G>A	ENST00000316286.9	-	3	1341	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ZNF786_ENST00000491431.1_Missense_Mutation_p.H443Y|ZNF786_ENST00000451334.3_Missense_Mutation_p.H406Y			Q8N393	ZN786_HUMAN	zinc finger protein 786	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTCGAATGTGCTCCGTGAGT	0.632000													13	35					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53457582	53457582	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:53457582C>T	ENST00000314250.6	+	29	4436	c.4146C>T	c.(4144-4146)caC>caT	p.H1382H	TENC1_ENST00000546602.1_Silent_p.H1285H|TENC1_ENST00000314276.3_Silent_p.H1392H|TENC1_ENST00000379902.3_Silent_p.H1258H|TENC1_ENST00000552570.1_Silent_p.H1380H|TENC1_ENST00000451358.1_Silent_p.H1372H|TENC1_ENST00000549700.1_Silent_p.H1317H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1382					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ATGTGTGTCACCTCTTTGCAG	0.532000													67	161					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49227424	49227424	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:49227424C>T	ENST00000327979.2	-	6	791	c.380G>A	c.(379-381)aGg>aAg	p.R127K	FAM65C_ENST00000535356.1_Missense_Mutation_p.R131K|FAM65C_ENST00000045083.2_Missense_Mutation_p.R127K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	127										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGAATGTGCCTTTCCACACA	0.597000													6	99					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112399743	112399743	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:112399743G>A	ENST00000302475.4	-	12	2144	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	MCC_ENST00000408903.3_Silent_p.A717A|MCC_ENST00000515367.2_Silent_p.A464A|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	527					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCACGGCAAAGGCTCCCCCAC	0.622000													21	58					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42682973	42682973	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:42682973G>A	ENST00000358131.5	+	5	921	c.713G>A	c.(712-714)gGa>gAa	p.G238E	TOX2_ENST00000423191.1_Missense_Mutation_p.G187E|TOX2_ENST00000372999.1_Missense_Mutation_p.G187E|TOX2_ENST00000435864.2_Missense_Mutation_p.G107E|TOX2_ENST00000341197.3_Missense_Mutation_p.G229E	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCGACCCAGGAAAAAAGGCC	0.537000													10	24					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62371076	62371076	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:62371076G>A	ENST00000519846.1	+	6	1424	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CLVS1_ENST00000325897.4_Missense_Mutation_p.E318K|CLVS1_ENST00000518592.1_Missense_Mutation_p.E39K			Q8IUQ0	CLVS1_HUMAN	clavesin 1	318					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCTGGAGAGAGAATGCTCACC	0.473000													23	23					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966991	41966991	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:41966991G>A	ENST00000298919.7	+	10	2018	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A804T			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	804							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGGTTGTAGCGCTGAAAGCAA	0.517000													37	133					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132433955	132433955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:132433955G>A	ENST00000326682.8	-	5	1007	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	NPHP3_ENST00000337331.5_Nonsense_Mutation_p.Q311*|NPHP3_ENST00000476742.1_5'UTR			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	311					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCTCAGGCTGGGTTTCATCT	0.323000													42	124					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216495	20216495	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:20216495G>A	ENST00000331723.1	+	1	909	c.909G>A	c.(907-909)agG>agA	p.R303R		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAAGCTGAGGATAAAACCAT	0.388000													6	96					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936681	15936681	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:15936681G>A	ENST00000504595.1	+	4	1343	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	FBXL7_ENST00000329673.7_Missense_Mutation_p.E276K|FBXL7_ENST00000510662.1_Missense_Mutation_p.E241K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	288					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAGGACGAAGGCCTGCA	0.622000													14	34					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55926911	55926911	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:55926911C>T	ENST00000313447.1	-	1	882	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TTCACCTCTTCGTTTCTTAAG	0.303000													17	41					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6138607	6138607	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:6138607C>T	ENST00000261405.5	-	22	3122	c.2868G>A	c.(2866-2868)gtG>gtA	p.V956V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	956	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCCAGACTCCACCACCTCAA	0.567000													31	59					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126137312	126137312	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:126137312G>A	ENST00000393425.1	+	6	532	c.433G>A	c.(433-435)Gag>Aag	p.E145K	CCDC37_ENST00000352312.1_Missense_Mutation_p.E144K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E145K			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	144										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAAGAATGTGGAGCCTGAGAA	0.607000													18	36					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4099246	4099246	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:4099246G>A	ENST00000262948.5	-	7	1125	c.872C>T	c.(871-873)cCt>cTt	p.P291L	MAP2K2_ENST00000394867.4_Missense_Mutation_p.P194L	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	291	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGCTGTGAGGCTCTCCTTC	0.711000													5	7					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34195737	34195737	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:34195737C>T	ENST00000311880.2	-	1	158	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.E4K	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	4							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTTGATTTTTCATAGGCCATC	0.527000													13	55					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446665	11446665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:11446665G>A	ENST00000423059.3	-	21	4185	c.3934C>T	c.(3934-3936)Cga>Tga	p.R1312*	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1312	TSP type-1 13.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCACTGTTCGTCTTCGGATC	0.453000										HNSCC(18;0.044)			8	27					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110644384	110644384	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:110644384T>C	ENST00000338081.3	-	3	953	c.782A>G	c.(781-783)aAg>aGg	p.K261R	DCX_ENST00000356220.3_Missense_Mutation_p.K180R|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.K180R|DCX_ENST00000371993.2_Missense_Mutation_p.K180R|DCX_ENST00000356915.2_Missense_Mutation_p.K180R	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	261	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGTAACCAGCTTGGGGCGCAC	0.532000													46	35					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032973	82032973	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:82032973G>A	ENST00000328945.5	-	3	1052	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	309					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTGAGGAAGGGCTGGAAGTTG	0.448000													38	88					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31438984	31438984	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:31438984G>A	ENST00000225823.2	-	2	1682	c.810C>T	c.(808-810)atC>atT	p.I270I	ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Silent_p.I219I	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	219					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGTCCAGCATGATCTCCAGCC	0.562000													29	77					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51712650	51712650	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:51712650G>A	ENST00000371117.3	-	50	8305	c.8030C>T	c.(8029-8031)cCa>cTa	p.P2677L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2677L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2677					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGAAGAAATGGAAAAGACAG	0.483000													34	106					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166097	71166097	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:71166097C>T	ENST00000357585.2	+	2	1008	c.639C>T	c.(637-639)ttC>ttT	p.F213F	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Silent_p.F213F	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	213					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTACACTTTCATTCTGGGGT	0.527000													28	89					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030126	138030126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:138030126C>T	ENST00000409968.1	+	11	2468	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R764*|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R733*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAACAGTCTCGATACAGAAT	0.398000													11	26					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103347521	103347521	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:103347521G>A	ENST00000258436.5	-	3	303	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	87					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AATGCCATAGGAGGAGCCTGT	0.338000													27	59					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79837609	79837609	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:79837609C>T	ENST00000282226.4	+	6	944	c.789C>T	c.(787-789)aaC>aaT	p.N263N	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	263										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AACCACAAAACCATGAATTTA	0.318000													9	34					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155764442	155764442	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:155764442C>T	ENST00000159060.2	-	5	553	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	151	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGGTAGCTCTCGTTAGGGGTG	0.562000													15	16					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126181039	126181039	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:126181039G>A	ENST00000389709.3	-	6	1519	c.1466C>T	c.(1465-1467)cCg>cTg	p.P489L	ZXDC_ENST00000336332.5_Missense_Mutation_p.P489L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	489					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AAGAGAACTCGGAGCTTCTAG	0.448000													30	110					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770528	112770528	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:112770528G>T	ENST00000390666.3	-	1	200	c.9C>A	c.(7-9)gaC>gaA	p.D3E	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	3					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.D3D(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGACAGCAGCGTCATCCATGG	0.547000													16	34					1.37285e-15	1.39326e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179637892	179637892	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:179637892C>T	ENST00000589042.1	-	33	8023	c.7799G>A	c.(7798-7800)gGa>gAa	p.G2600E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2554E|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2600E|TTN_ENST00000342992.6_Missense_Mutation_p.G2600E|TTN_ENST00000359218.5_Missense_Mutation_p.G2554E|TTN_ENST00000591111.1_Missense_Mutation_p.G2600E|TTN_ENST00000342175.6_Missense_Mutation_p.G2554E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2334							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTATTTTCCTTCATCATC	0.313000													22	42					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12460343	12460343	+	Missense_Mutation	SNP	G	G	C	rs140805551		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:12460343G>C	ENST00000358136.3	+	61	11870	c.11740G>C	c.(11740-11742)Gca>Cca	p.A3914P	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.A3889P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3913					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAAGTCAACGCAGTGAAGTT	0.537000													20	41					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079893	23079893	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:23079893G>A	ENST00000219689.7	-	16	3532	c.3533C>T	c.(3532-3534)tCc>tTc	p.S1178F	USP31_ENST00000567975.1_Missense_Mutation_p.S471F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1178	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CACCCGAGGGGAATTGGGTTT	0.652000													22	50					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:47120418C>T	ENST00000298283.3	-	1	610	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000													34	91					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304766	10304766	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:10304766C>T	ENST00000403437.2	-	24	3028	c.2934G>A	c.(2932-2934)gtG>gtA	p.V978V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	978					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAAGATTTTTCACCTACAAAG	0.413000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				70	205					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102325	155102325	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:155102325G>A	ENST00000392825.3	+	7	1254	c.686_splice	c.e7-1	p.R229_splice	GALNT13_ENST00000409237.1_Splice_Site_p.R229_splice	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	229						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						TTCTCTGCAGGAAAACGGTTG	0.318000													17	87					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666905	77666905	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:77666905G>A	ENST00000461745.1	+	22	4435	c.3535G>A	c.(3535-3537)Gat>Aat	p.D1179N	ROBO2_ENST00000332191.8_Missense_Mutation_p.D1179N|ROBO2_ENST00000487694.3_Missense_Mutation_p.D1195N|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1179					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTATCAGTTTGATATAGCAAA	0.418000													29	60					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966427	30966427	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:30966427G>A	ENST00000295055.8	-	13	1443	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	CAPN13_ENST00000534090.2_Missense_Mutation_p.P423S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	423					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACACGGGTGGAAATTTCTCC	0.473000													15	87					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51367609	51367609	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:51367609C>T	ENST00000266037.9	+	33	3466	c.3443C>T	c.(3442-3444)tCa>tTa	p.S1148L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1148	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCATGGTGTCAGAAGGGAAA	0.532000													4	8					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170043	58170043	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:58170043G>A	ENST00000309403.2	-	1	839	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGCATGGGGATGACCATTG	0.443000													13	84					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091687	11091687	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:11091687C>T	ENST00000537503.1	-	1	175	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	40					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CCGAAGAGATCTTTCTTCCCT	0.393000													23	54					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439439	150439439	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:150439439G>A	ENST00000358647.3	+	3	579	c.212G>A	c.(211-213)gGa>gAa	p.G71E	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGAAAACAGGAACATGGAAC	0.567000													52	63					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133196278	133196278	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:133196278T>A	ENST00000389110.3	+	3	360	c.323T>A	c.(322-324)tTc>tAc	p.F108Y	P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.F108Y|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.F108Y	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	108					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GGCAGCGTGTTCAGCATCATC	0.741000													5	15					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144244	31144244	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:31144244G>A	ENST00000543491.1	+	3	3541	c.3541G>A	c.(3541-3543)Gat>Aat	p.D1181N				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.D1126Y(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATGCCTGTTGATGAACGAGG	0.537000													23	135					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924612	105924612	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:105924612G>A	ENST00000393359.2	-	2	573	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TGFBRAP1_ENST00000258449.1_Silent_p.F49F			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	49	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCAACAGGAAGTGGTAGA	0.607000													8	34					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242038948	242038948	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:242038948A>G	ENST00000391980.2	-	2	441	c.383T>C	c.(382-384)aTt>aCt	p.I128T	MTERFD2_ENST00000407095.3_Missense_Mutation_p.I128T|MTERFD2_ENST00000495694.1_Missense_Mutation_p.I128T|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	128										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		AAATTCTGAAATGATGTCCAG	0.448000													64	118					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40315719	40315719	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:40315719G>A	ENST00000264661.3	-	13	2714	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	KCNH4_ENST00000607371.1_Silent_p.S794S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	794					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCGTGAGGGGAGGCACTGT	0.657000													3	8					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356167	201356167	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:201356167G>A	ENST00000391967.2	-	3	623	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	LAD1_ENST00000367313.3_Missense_Mutation_p.P122S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	108						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCCTGGATGGGGGCCTGTGCA	0.627000													15	41					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39433070	39433070	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:39433070G>A	ENST00000273158.4	+	4	792	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	139					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTTGCAGGGGTCTGTATGTC	0.557000													67	199					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													6	44					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				71	90					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20906359	20906359	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:20906359G>A	ENST00000261497.4	-	13	1766	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.F509F	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	521					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CGTATTCCAGGAACTGTTTGT	0.532000													93	193					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55118723	55118723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:55118723G>A	ENST00000414150.2	+	3	402	c.124G>A	c.(124-126)Gct>Act	p.A42T	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.A42T|MROH7_ENST00000339553.5_Missense_Mutation_p.A42T|MROH7_ENST00000421030.2_Missense_Mutation_p.A42T|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron					maestro heat-like repeat family member 7																		CCCAGACATGGCTCAGGTGCC	0.572000													37	81					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876665	57876665	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:57876665G>A	ENST00000311585.7	+	2	623	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	EDN3_ENST00000395654.3_Missense_Mutation_p.A85T|EDN3_ENST00000371028.2_Missense_Mutation_p.A85T|EDN3_ENST00000337938.2_Missense_Mutation_p.A85T|EDN3_ENST00000371025.3_Missense_Mutation_p.A85T	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	85					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GGAGCAGGCGGCCGAGGGGGC	0.652000													39	83					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432642	73432642	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:73432642C>T	ENST00000263666.4	-	10	3189	c.3075G>A	c.(3073-3075)atG>atA	p.M1025I	PDZRN3_ENST00000479530.1_Missense_Mutation_p.M742I|PDZRN3_ENST00000535920.1_Missense_Mutation_p.M747I|PDZRN3_ENST00000462146.2_Missense_Mutation_p.M682I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.M682I	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1025							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTTCTTCATCATCTTTTTGT	0.458000													102	302					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610564	81610564	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:81610564T>C	ENST00000541158.2	+	11	2484	c.2162T>C	c.(2161-2163)gTt>gCt	p.V721A	TSHR_ENST00000298171.2_Missense_Mutation_p.V721A|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	721					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GATATTCAGGTTCAAAAGGTT	0.488000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						41	101					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304477	115304477	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:115304477C>T	ENST00000371906.4	+	3	1134	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	315					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGCGTTAATCCGTTTCTGTAT	0.463000													77	62					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18246585	18246585	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:18246585C>T	ENST00000262811.5	+	17	1819	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	607	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGAGGCCCTTCCAGCAGACGC	0.597000													5	12					0	0	1	0	0
PCBD2	84105	broad.mit.edu	37	5	134294749	134294749	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:134294749G>A	ENST00000512783.1	+	3	256	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	PCBD2_ENST00000510013.1_3'UTR|PCBD2_ENST00000254908.6_Missense_Mutation_p.R79Q			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	79					positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTATGTCCCGAGTTGCCCTA	0.413000													20	60					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371251	48371251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:48371251G>A	ENST00000395702.2	+	2	946	c.719G>A	c.(718-720)tGg>tAg	p.W240*	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Nonsense_Mutation_p.W133*			Q96MN9	ZN488_HUMAN	zinc finger protein 488	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTACACTGTGGCTGGAGCAT	0.582000													27	44					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11009763	11009763	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:11009763G>A	ENST00000377004.4	-	11	1207	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	C1orf127_ENST00000377008.4_Missense_Mutation_p.S236F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	254										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCACACCTGGGAGGAAGCAGC	0.647000													3	12					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155226333	155226333	+	Silent	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:155226333A>G	ENST00000357232.3	-	16	3945	c.3946T>C	c.(3946-3948)Tta>Cta	p.L1316L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1316	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCTCGAATAATTCAAATGAA	0.353000													15	15					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3151782	3151782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:3151782G>A	ENST00000400569.3	-	12	2086	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R585*|MYOM1_ENST00000356443.4_Nonsense_Mutation_p.R585*			P52179	MYOM1_HUMAN	myomesin 1	585	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCACAGCTCGAACTCGGAAG	0.488000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	87					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100536	89100536	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:89100536C>T	ENST00000393525.3	+	0	1089																											cctctgtgctctgcctatgta	0.348000													12	24					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400102	138400102	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:138400102G>A	ENST00000409968.1	+	21	4022	c.3844G>A	c.(3844-3846)Gaa>Aaa	p.E1282K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E1285K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1254K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACCCAAGGAGAAGGACGGCC	0.512000													30	111					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82996914	82996914	+	Splice_Site	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:82996914A>G	ENST00000529689.1	-	1	535		c.e1+1		CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Intron|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000529073.1_Splice_Site			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B							integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				GCCTTGCCTCACCTCTCCGCA	0.632000													3	7					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152097	117152097	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:117152097C>T	ENST00000530849.1	+	8	758	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	RNF214_ENST00000300650.4_Missense_Mutation_p.R405W|RNF214_ENST00000531452.1_Missense_Mutation_p.R405W|RNF214_ENST00000531287.1_Missense_Mutation_p.R250W			Q8ND24	RN214_HUMAN	ring finger protein 214	405							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAATGGAGTTCGGATAATGAA	0.423000													11	31					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830235	13830235	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:13830235G>A	ENST00000265104.4	-	37	6253	c.6149C>T	c.(6148-6150)tCc>tTc	p.S2050F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2050	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAATAATGGAAATTTGCTG	0.398000									Kartagener syndrome				19	71					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972152	28972152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:28972152C>T	ENST00000359747.4	+	8	883	c.854C>T	c.(853-855)tCg>tTg	p.S285L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S285L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	285	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S285L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTTTAAGTTCGGAACTGATA	0.338000													35	88					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141818	31141818	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:31141818G>A	ENST00000543774.2	+	10	1383	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	KAT8_ENST00000448516.2_Missense_Mutation_p.E350K|KAT8_ENST00000219797.4_Missense_Mutation_p.E350K			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	350					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CGGCTCCCCGGAGAAGCCACT	0.607000													4	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056776	9056776	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9056776G>A	ENST00000397910.4	-	3	30873	c.30670C>T	c.(30670-30672)Cca>Tca	p.P10224S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10226	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCACTGGAATTTCAGTA	0.458000													13	61					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092819	147092819	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:147092819G>A	ENST00000361727.3	+	10	2133	c.1617G>A	c.(1615-1617)agG>agA	p.R539R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	539	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGCACAAAGGAAGCCGGGAA	0.433000										HNSCC(39;0.1)			51	258					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26676394	26676394	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:26676394C>T	ENST00000288710.2	+	14	1970	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TGGAGGCCTTCGTCATGGGTC	0.612000													20	28					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075647	67075647	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:67075647C>T	ENST00000308127.4	+	9	1066	c.888C>T	c.(886-888)atC>atT	p.I296I	SSH3_ENST00000376757.5_Silent_p.I296I|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	296					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCTGCAGATCCGCCAGGCTC	0.652000													10	56					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237308114	237308114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:237308114C>T	ENST00000409907.3	-	9	1426	c.1152G>A	c.(1150-1152)tgG>tgA	p.W384*	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.W380*|IQCA1_ENST00000431676.2_Nonsense_Mutation_p.W343*			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	384	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTGACATTTTCCATTTTTCGT	0.458000													15	70					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874420	144874420	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:144874420G>A	ENST00000356994.2	-	32	4490	c.4484C>T	c.(4483-4485)gCc>gTc	p.A1495V	SCRIB_ENST00000377533.3_Missense_Mutation_p.A1414V|SCRIB_ENST00000320476.3_Missense_Mutation_p.A1495V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1495					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCTTCTCGGCCTCCAGGGC	0.731000													4	11					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2005561	2005561	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:2005561C>T	ENST00000262113.4	+	4	500	c.359C>T	c.(358-360)tCc>tTc	p.S120F	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	120					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGCACGCTCCCAGGCCCGC	0.617000													13	24					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720533	140720533	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:140720533C>T	ENST00000394576.2	+	1	1995	c.1995C>T	c.(1993-1995)gcC>gcT	p.A665A	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)			TGGCCGTGGCCGACAGGATCC	0.682000													36	92					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892264	17892264	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:17892264C>T	ENST00000594202.1	+	22	2023	c.1744C>T	c.(1744-1746)Cgt>Tgt	p.R582C	FCHO1_ENST00000597512.1_Missense_Mutation_p.R589C|FCHO1_ENST00000595033.1_Missense_Mutation_p.R532C|FCHO1_ENST00000596951.1_Missense_Mutation_p.R582C|FCHO1_ENST00000252771.7_Missense_Mutation_p.R582C|FCHO1_ENST00000389133.4_Missense_Mutation_p.R582C|FCHO1_ENST00000539407.1_Missense_Mutation_p.R582C|FCHO1_ENST00000600676.1_Missense_Mutation_p.R582C|FCHO1_ENST00000596536.1_Missense_Mutation_p.R582C	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	582										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTTCCAGTCTCGTTCCCTGAG	0.637000													19	50					0	0	1	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013088	107013088	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:107013088G>A	ENST00000390625.2	-	0	286																											TGCTTCTAATGAAACCTACCC	0.507000													42	92					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718592	73718592	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:73718592C>T	ENST00000264448.6	+	10	9614	c.9503C>T	c.(9502-9504)tCc>tTc	p.S3168F	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3126F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3168					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGGACATTCCAATCCAGAG	0.403000													27	49					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411967	126411967	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:126411967C>T	ENST00000394329.3	+	17	14003	c.13990C>T	c.(13990-13992)Ccc>Tcc	p.P4664S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2905S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4664					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGCAATCCCCCATGCCCTT	0.512000													27	73					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1282618	1282618	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:1282618C>T	ENST00000310581.5	-	3	1752	c.1695G>A	c.(1693-1695)gaG>gaA	p.E565E	TERT_ENST00000508104.2_Silent_p.E565E|TERT_ENST00000334602.6_Silent_p.E565E|TERT_ENST00000296820.5_Silent_p.E565E	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	565					anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAAACGTGGTCTCCGTGACAT	0.522000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				25	82					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542786	28542786	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:28542786C>T	ENST00000452236.2	-	3	2313	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	566					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGTTTTCTTCATACTGGGCT	0.403000													46	90					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52960200	52960200	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:52960200G>A	ENST00000258613.4	-	4	1321	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	THSD1_ENST00000544466.1_Silent_p.S2S|THSD1_ENST00000349258.4_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	381	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AGGCCTCCAAGGACATTCCAG	0.557000													12	40					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270413	113270413	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:113270413G>A	ENST00000303941.3	+	8	1816	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	574							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCAAATACCTGATCTGCAAGA	0.627000													3	5					0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27890496	27890496	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:27890496C>G	ENST00000081029.3	+	7	728	c.657C>G	c.(655-657)taC>taG	p.Y219*	MRPS35_ENST00000538315.1_Missense_Mutation_p.R183G	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	219					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GGCAGAATTACGATTATGCAG	0.323000													33	77					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083434	44083434	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:44083434G>A	ENST00000262726.7	-	11	1312	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	EFCAB6_ENST00000396231.2_Silent_p.I201I|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTTCCAATTGATTTTAGTGG	0.318000													29	39					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2946353	2946353	+	Silent	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:2946353T>C	ENST00000396946.4	-	25	3787	c.3384A>G	c.(3382-3384)gtA>gtG	p.V1128V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1128	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCAGCTCCTCTACGCTGCCCC	0.662000			Mis		DLBCL								23	64					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826335	143826335	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:143826335A>T	ENST00000408899.2	+	1	185	c.130A>T	c.(130-132)Atc>Ttc	p.I44F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GAATGGGGTCATCTTTGGGAT	0.498000													74	274					0	0	1	0	0
GOPC	57120	broad.mit.edu	37	6	117898627	117898627	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:117898627G>A	ENST00000368498.2	-	3	533	c.458C>T	c.(457-459)cCc>cTc	p.P153L	GOPC_ENST00000052569.6_Intron|GOPC_ENST00000535237.1_Intron	NM_020399.3	NP_065132.1			golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CTCCACAGAGGGGCCAGACTT	0.308000			O	ROS1	glioblastoma								15	14					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427481	119427481	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:119427481C>T	ENST00000369429.3	-	8	1692	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G	TBX15_ENST00000207157.3_Silent_p.G455G			Q96SF7	TBX15_HUMAN	T-box 15	561						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGTGCTCCATCCCTGACGGCA	0.547000													34	60					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103347260	103347260	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:103347260C>T	ENST00000358392.2	-	65	5386	c.5069G>A	c.(5068-5070)gGa>gAa	p.G1690E	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1678E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1562E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1639E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1678	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCAGTTTTCCCCTCTTAAA	0.358000													16	46					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10130575	10130575	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:10130575C>T	ENST00000287647.3	+	36	3717	c.3624C>T	c.(3622-3624)gtC>gtT	p.V1208V	FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Silent_p.V1208V|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Silent_p.V1208V|FANCD2_ENST00000383806.1_Silent_p.V1208V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1208					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTGTTGGTGTCCCAGAACTGA	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				47	123					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244171	119244171	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:119244171G>A	ENST00000260187.2	-	2	314	c.20C>T	c.(19-21)aCc>aTc	p.T7I	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	7	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GCGCTTCAGGGTGGAGGAGAG	0.602000													4	19					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227251	25227251	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:25227251G>A	ENST00000551631.2	+	0	554				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						TCGATTTCAAGATTTTCTGCA	0.338000													36	115					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167160770	167160770	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:167160770C>T	ENST00000303354.6	-	6	1009	c.669G>A	c.(667-669)ttG>ttA	p.L223L	SCN9A_ENST00000409672.1_Silent_p.L222L|SCN9A_ENST00000409435.1_Silent_p.L222L|SCN9A_ENST00000375387.4_Intron			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	222						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAATAGTTTTCAAAGCTCTCA	0.348000													19	35					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028558	142028558	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:142028558G>A	ENST00000390353.2	+	0	349																											GCTCAGGCTGGAGTCGGCTGC	0.537000													77	287					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651420	75651420	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:75651420C>T	ENST00000565683.1	-	18	2183	c.2172G>A	c.(2170-2172)ttG>ttA	p.L724L	MAN2C1_ENST00000569482.1_Silent_p.L707L|MAN2C1_ENST00000267978.5_Silent_p.L707L|MAN2C1_ENST00000563622.1_Silent_p.L608L	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	707					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCACCAGGACCAAGGACGTCA	0.587000													16	53					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656025	87656025	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:87656025C>T	ENST00000320005.5	-	10	1179	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	378					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAATTCCTTCATAGTTTGAA	0.358000													42	126					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597756	49597756	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:49597756C>T	ENST00000527477.1	+	0	360																											CCTGAATTTTCCCCACCATGC	0.443000													3	13					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657318	34657318	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:34657318G>A	ENST00000314891.6	-	3	546	c.369C>T	c.(367-369)gtC>gtT	p.V123V	LPCAT4_ENST00000562431.1_5'UTR	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	123					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CAGCAACAAGGACAGGGGCTT	0.597000													21	36					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208535	58208535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:58208535G>A	ENST00000377918.3	+	1	1881	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	619	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGACTTCGGCGAGAGCGGGCG	0.662000													16	62					0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131151609	131151609	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:131151609C>T	ENST00000452446.1	+	4	320	c.258C>T	c.(256-258)atC>atT	p.I86I	URM1_ENST00000372853.4_Intron|URM1_ENST00000372850.1_3'UTR|URM1_ENST00000483206.1_3'UTR	NM_001135947.2	NP_001129419.1	Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TGGGGGACATCCCTCCCCCAG	0.597000													24	47					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745002	135745002	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:135745002C>T	ENST00000375845.3	-	7	1470	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	MAP3K19_ENST00000358371.4_Silent_p.R367R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.R497R	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GAGGCACCATCCTACTCATTT	0.443000													23	91					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620451	56620451	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:56620451A>G	ENST00000321691.3	-	1	1278	c.1097T>C	c.(1096-1098)gTt>gCt	p.V366A	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	366										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCTGGAGTAACAAACATGGA	0.502000													16	61					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828154	43828154	+	Silent	SNP	T	T	C	rs140150445	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:43828154T>C	ENST00000377564.3	+	9	1803	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	470	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGTGGTGGATGATGACACAG	0.488000													3	21					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520640	33520640	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:33520640C>T	ENST00000297307.5	-	1	772	c.687G>A	c.(685-687)gtG>gtA	p.V229V		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	229						integral to membrane											CCAGCAGCCCCACCAAGCCAG	0.632000													34	99					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739007	91739007	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:91739007C>T	ENST00000389857.6	-	30	6135	c.6049G>A	c.(6049-6051)Gat>Aat	p.D2017N	CCDC88C_ENST00000331194.7_Missense_Mutation_p.D541N	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	2017					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTCTGCGGATCCCCGCCGGGC	0.647000													22	102					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436024	56436024	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:56436024C>T	ENST00000327381.5	+	3	1291	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	397						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTCGGTTTTCCAGCTGTACT	0.512000													67	179					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046973	9046973	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9046973G>A	ENST00000397910.4	-	5	34861	c.34658C>T	c.(34657-34659)tCt>tTt	p.S11553F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11555	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTGTCCCAGAACTAGGGAC	0.517000													10	51					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1372863	1372863	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:1372863C>T	ENST00000476993.1	+	2	708	c.631_splice	c.e2+1	p.L210_splice	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_5'UTR	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	210	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTCCATTCTCGGTATGCGGG	0.617000													28	45					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211309	38211309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:38211309G>A	ENST00000379705.3	-	11	3522	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R894*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R805*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R716*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R748*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R716*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R740*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R748*|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	889	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCTAATCCTCGAGATTCCAGT	0.463000													15	58					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907895	12907895	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:12907895T>C	ENST00000317869.6	-	2	473	c.248A>G	c.(247-249)aAc>aGc	p.N83S		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGCAGCCAGGTTAATATCTAC	0.488000													58	198					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814281	123814281	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:123814281C>T	ENST00000321252.2	-	1	299	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATGGTGTGATCCCCCGTGAGG	0.502000													10	65					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129739650	129739650	+	Silent	SNP	G	G	A	rs2229652		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:129739650G>A	ENST00000446488.3	-	23	3373	c.3270C>T	c.(3268-3270)atC>atT	p.I1090I	NFRKB_ENST00000304521.5_Silent_p.I1090I|NFRKB_ENST00000524794.1_Silent_p.I1115I|NFRKB_ENST00000524746.1_Silent_p.I1090I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1090					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTCCCTGCACGATGCGGATCG	0.592000													24	88					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002312	58002312	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:58002312C>T	ENST00000548198.1	+	4	2264	c.760C>T	c.(760-762)Cca>Tca	p.P254S	DTX3_ENST00000548804.1_Missense_Mutation_p.P254S|DTX3_ENST00000551632.1_Missense_Mutation_p.P257S|DTX3_ENST00000337737.3_Missense_Mutation_p.P254S			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	254					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GGCTGAACACCCAAACCCAGG	0.612000													11	55					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990196	39990196	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:39990196C>T	ENST00000332312.3	-	4	2205	c.2013G>A	c.(2011-2013)ggG>ggA	p.G671G		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	671						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGCGGCTCAGCCCACTGGCCA	0.652000													7	19					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751770	26751770	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:26751770G>A	ENST00000396641.2	+	2	1199	c.607G>A	c.(607-609)Gat>Aat	p.D203N	LRRC3B_ENST00000456208.2_Missense_Mutation_p.D203N|LRRC3B_ENST00000417744.1_Missense_Mutation_p.D203N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	203						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAAAACTACCGATTATGCCAT	0.473000													14	30					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102356587	102356587	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:102356587A>G	ENST00000422945.2	+	8	832	c.736A>G	c.(736-738)Aca>Gca	p.T246A	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.T215A|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.T215A|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.T215A|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.T270A|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.T215A	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	215					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TATTTATGAAACAGAGCATCA	0.393000													16	64					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116535379	116535379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:116535379G>A	ENST00000410059.1	+	15	1810	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	DPP10_ENST00000409163.1_Missense_Mutation_p.E394K|DPP10_ENST00000310323.8_Missense_Mutation_p.E437K|DPP10_ENST00000393147.2_Missense_Mutation_p.E448K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	444					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCTGAGCACTGAATCTTCTCC	0.408000													28	57					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74109782	74109782	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:74109782G>A	ENST00000389156.4	-	6	643	c.553C>T	c.(553-555)Cta>Tta	p.L185L	FAM169A_ENST00000380515.3_Silent_p.F127F|FAM169A_ENST00000510496.1_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	185										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTCTTTCTTAGAAACATTGTA	0.398000													52	138					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100537693	100537693	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:100537693A>G	ENST00000268070.4	-	19	2798	c.2693T>C	c.(2692-2694)gTc>gCc	p.V898A		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	898	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCGCGTAGCGACGTGTGTGCC	0.687000													4	36					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63491888	63491888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:63491888C>T	ENST00000536984.2	+	6	1496	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	CDH7_ENST00000397968.2_Nonsense_Mutation_p.Q268*|CDH7_ENST00000323011.3_Nonsense_Mutation_p.Q268*			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	268	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGGGTCTTATCAATATAACGT	0.368000													29	83					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758652	121758652	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:121758652C>T	ENST00000261367.7	+	6	1789	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	SNCAIP_ENST00000261368.8_Missense_Mutation_p.R74C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R121C|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R74C|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.R121C|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	74					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTAAGTTCCGCCCAGTGAA	0.443000													25	65					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147736	100147736	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:100147736C>T	ENST00000231461.5	-	5	1205	c.895G>A	c.(895-897)Gga>Aga	p.G299R		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	299					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GGCCAGAATCCATACAGGTGA	0.398000													25	77					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119306546	119306546	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:119306546C>T	ENST00000478399.1	+	4	2300	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.H299Y|ADPRH_ENST00000357003.3_Missense_Mutation_p.H299Y|ADPRH_ENST00000478927.1_Missense_Mutation_p.H299Y			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	299					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGCCTTTTTCCATGGTGGAGA	0.537000													37	66					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27127142	27127142	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:27127142A>G	ENST00000343028.4	-	12	1694	c.1469T>C	c.(1468-1470)gTa>gCa	p.V490A	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	490						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CATGCCCCATACTGCCAGGAT	0.393000													22	43					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134871889	134871889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:134871889G>A	ENST00000344400.5	-	13	1862	c.1801C>T	c.(1801-1803)Caa>Taa	p.Q601*	WDR91_ENST00000423565.1_Silent_p.L603L|WDR91_ENST00000354475.4_Silent_p.L638L			A4D1P6	WDR91_HUMAN	WD repeat domain 91	0										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CGGATACCTTGAGGCCACTCT	0.602000													20	94					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325201	77325201	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:77325201T>C	ENST00000282849.5	-	21	3782	c.3364A>G	c.(3364-3366)Aac>Gac	p.N1122D		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1122					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTACCATGTTGTACACTGGA	0.498000													48	120					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390189	52390189	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:52390189G>A	ENST00000443374.1	+	0	882																											GATATCAATCGAACTGTAGTA	0.383000													11	27					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376876	138376876	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:138376876C>T	ENST00000356818.2	+	4	1069	c.520C>T	c.(520-522)Ccg>Tcg	p.P174S	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P174S|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P174S|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P174S|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P174S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	174						nucleolus	protein binding										TAGATGTAAGCCGGAACCGGC	0.687000													18	25					0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203465214	203465214	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:203465214G>A	ENST00000367222.2	+	2	197	c.81G>A	c.(79-81)agG>agA	p.R27R		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	27						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAAGGAGAGGAAGAGGAGAG	0.552000													9	41					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943626	144943626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:144943626C>T	ENST00000525985.1	-	2	3867	c.3796G>A	c.(3796-3798)Gtg>Atg	p.V1266M				P58107	EPIPL_HUMAN	epiplakin 1	1266						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCATCCCTCACGGCCTGGGCG	0.687000													20	23					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:50169104C>T	ENST00000246785.3	+	1	282	c.24C>T	c.(22-24)ttC>ttT	p.F8F	BCL2L12_ENST00000246784.3_Silent_p.F8F|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.F8F|IRF3_ENST00000377139.3_5'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000													25	48					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332854	70332854	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:70332854G>A	ENST00000338508.4	-	32	3546	c.3547C>T	c.(3547-3549)Ccc>Tcc	p.P1183S	SHANK2_ENST00000409161.1_Missense_Mutation_p.P586S|SHANK2_ENST00000449833.2_Missense_Mutation_p.P587S|SHANK2_ENST00000423696.2_Missense_Mutation_p.P803S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	803					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGCTCTCGGGCCCCTGGGCT	0.692000													14	32					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94741724	94741724	+	Silent	SNP	G	G	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:94741724G>T	ENST00000304338.3	+	24	2617	c.2463G>T	c.(2461-2463)cgG>cgT	p.R821R		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	821						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATTCATTCCGGACTCGTAATG	0.418000													27	209					5.77227e-19	5.88991e-19	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2210768	2210768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:2210768C>T	ENST00000398665.3	+	14	1301	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	422						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGCGAACCCCGAGCGGAAG	0.632000													16	70					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661100	162661100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:162661100C>T	ENST00000375514.5	+	4	592	c.305C>T	c.(304-306)tCt>tTt	p.S102F	SLC4A10_ENST00000415876.2_Missense_Mutation_p.S91F|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S91F|SLC4A10_ENST00000446997.1_Missense_Mutation_p.S91F|SLC4A10_ENST00000535165.1_Missense_Mutation_p.S91F|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S91F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	91					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGTCACCTTCTTTTGGTAAG	0.348000													7	17					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253191	65253191	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:65253191G>A	ENST00000389722.3	-	15	3545	c.3492C>T	c.(3490-3492)ctC>ctT	p.L1164L	SPTB_ENST00000542895.1_Silent_p.L1164L|SPTB_ENST00000389720.3_Silent_p.L1164L|SPTB_ENST00000389721.5_Silent_p.L1164L|SPTB_ENST00000556626.1_Silent_p.L1164L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1164					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGCACTGAGCGAGGGTGTGGC	0.622000													10	43					0	0	1	0	0
SAA1	6288	broad.mit.edu	37	11	18288502	18288502	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:18288502C>T	ENST00000405158.2	+	2	252	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA1_ENST00000532858.1_Missense_Mutation_p.S23L|SAA1_ENST00000356524.4_Missense_Mutation_p.S23L	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN	serum amyloid A1	23					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTTCTTTTCGTTCCTTGGC	0.498000													13	48					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34451165	34451165	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:34451165G>A	ENST00000374012.3	+	6	780	c.651G>A	c.(649-651)gaG>gaA	p.E217E	PHF20_ENST00000439301.1_Silent_p.E217E|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	217	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCAAGAACGAGAAGGAAGACA	0.413000													61	128					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054506	67054506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:67054506C>T	ENST00000295568.4	+	3	1168	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.S372F	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	372										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGATGGCTATCCAAACCATCC	0.458000													53	110					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426437	10426437	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:10426437C>T	ENST00000245503.5	-	39	6027	c.5643G>A	c.(5641-5643)gtG>gtA	p.V1881V	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1881V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1881					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TATAAGATTTCACTTTTGCCT	0.323000													27	56					0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26609386	26609386	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:26609386C>T	ENST00000260585.7	+	9	1196	c.1077C>T	c.(1075-1077)atC>atT	p.I359I		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	359					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										TGGCCCACATCCATTATGGAG	0.428000													14	38					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113518989	113518989	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:113518989G>A	ENST00000297405.5	-	29	5070	c.4826C>T	c.(4825-4827)cCg>cTg	p.P1609L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1505L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1569L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1609L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1609	CUB 9.					integral to membrane|plasma membrane		p.P1609L(1)|p.P1569L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGCTATGCGGATATGGATG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			49	77					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480417	73480417	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:73480417G>A	ENST00000523207.1	+	2	1036	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	150					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAATGAACGAAGAACTGAG	0.453000													45	161					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900333	13900333	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:13900333C>T	ENST00000265104.4	-	15	2345	c.2241G>A	c.(2239-2241)agG>agA	p.R747R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	747	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACTGAAGTTCCTTTTGTATC	0.378000									Kartagener syndrome				43	67					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67077281	67077281	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:67077281G>A	ENST00000284425.2	-	37	4796	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1541					transport	integral to membrane	ATP binding|ATPase activity	p.S1541Y(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAACAAAGAGGAATACCTGAA	0.373000													39	96					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735415	101735415	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:101735415C>T	ENST00000506729.1	-	10	1829	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G300E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G553E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G300E|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G491E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	553						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTTATTAATCCTTCTTTAAT	0.323000													30	62					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417783	100417783	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:100417783G>A	ENST00000358173.3	-	5	1412	c.944C>T	c.(943-945)cCc>cTc	p.P315L	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.P315L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	315	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCACCCCGGGGGTCTGTGCG	0.642000													26	66					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169336585	169336585	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:169336585G>A	ENST00000511577.1	-	22	3200	c.2953C>T	c.(2953-2955)Ccc>Tcc	p.P985S	DDX60L_ENST00000260184.7_Missense_Mutation_p.P985S|DDX60L_ENST00000505890.1_Missense_Mutation_p.P985S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	985							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GCAGCACAGGGATGAAAATGA	0.348000													10	22					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205028255	205028255	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:205028255C>T	ENST00000331830.4	+	6	815	c.531C>T	c.(529-531)atC>atT	p.I177I		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	177	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAACTTCATCCCGACGGACG	0.587000													19	50					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212553313	212553313	+	Missense_Mutation	SNP	G	G	A	rs138060998		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:212553313G>A	ENST00000261455.4	-	5	699	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	TMEM206_ENST00000535273.1_Missense_Mutation_p.R249C	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	188						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGTTCAGGCGGAACTGGAGG	0.522000													57	113					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861986	57861986	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:57861986G>A	ENST00000228682.2	+	10	1378	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	GLI1_ENST00000546141.1_Silent_p.L388L|GLI1_ENST00000543426.1_Silent_p.L301L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	429					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AAAGCAGACTGACTGTGCCAG	0.612000													18	21					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972487	92972487	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:92972487C>T	ENST00000523629.1	-	12	2252	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E563K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E573K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E611K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E573K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E563K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E600K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E563K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	600					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGGTTGTCTCTATGGTGGAA	0.567000													5	11					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107746996	107746996	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:107746996G>A	ENST00000388781.3	-	7	696	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	LAMB4_ENST00000205386.4_Missense_Mutation_p.P205S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P205S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P205S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	205	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAAAACTGGGATCCAAAACT	0.269000													8	45					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182423343	182423343	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:182423343C>T	ENST00000410087.3	-	5	870	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R239Q|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000339098.5_Missense_Mutation_p.R283Q|CERKL_ENST00000374969.2_Intron	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	283	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.R257Q(1)|p.R283Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGTCAGGATTCGGTCTGTTTC	0.488000													21	48					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120489	21120489	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:21120489C>T	ENST00000377122.4	-	15	1869	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	491					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATTTCAGTCTCCAGATCTC	0.428000													4	46					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092805	147092805	+	Missense_Mutation	SNP	G	G	A	rs76475298	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:147092805G>A	ENST00000361727.3	+	10	2119	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	535	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAATTTATACGAAGTGGCACA	0.438000										HNSCC(39;0.1)			144	175					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986800	141986800	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:141986800C>T	ENST00000389484.3	-	6	1773	c.802G>A	c.(802-804)Gga>Aga	p.G268R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	268					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)		GTTAATCCTCCTGCTTTTGTT	0.294000										TSP Lung(27;0.18)			23	100					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216091	20216091	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:20216091T>G	ENST00000331723.1	+	1	505	c.505T>G	c.(505-507)Ttc>Gtc	p.F169V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGCTGCCTTTCTGTGGGCC	0.512000													9	111					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569287	73569287	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:73569287G>A	ENST00000392550.3	+	20	2770	c.2653G>A	c.(2653-2655)Gtg>Atg	p.V885M	LLGL2_ENST00000167462.5_Missense_Mutation_p.V885M|LLGL2_ENST00000577200.1_Missense_Mutation_p.V885M	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	885					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAAGCCCCAGGTGCGCTACAG	0.652000													34	64					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153197787	153197787	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:153197787G>A	ENST00000464845.1	-	5	641	c.323C>T	c.(322-324)tCc>tTc	p.S108F	NAA10_ENST00000370009.1_Missense_Mutation_p.S108F|NAA10_ENST00000370015.4_Missense_Mutation_p.S108F|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000393712.3_Missense_Mutation_p.S108F	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	108	N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GACATGCAGGGAGACATATTT	0.582000													7	15					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182853892	182853892	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:182853892C>T	ENST00000367549.3	+	27	3515	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1135					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGAACATGATCCGTCAGATCT	0.483000													45	89					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490229	37490229	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:37490229G>A	ENST00000374660.1	+	37	3133	c.3034G>A	c.(3034-3036)Gat>Aat	p.D1012N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D893N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D893N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1036						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAAGAAATGGATAAAATAAG	0.318000													37	42					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24525909	24525909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:24525909C>T	ENST00000342740.5	+	12	1098	c.944C>T	c.(943-945)tCc>tTc	p.S315F	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	315										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ACTGCCATTTCCCCTCGAGGT	0.592000													17	27					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43441314	43441314	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:43441314C>T	ENST00000446844.3	-	0	4				PSG7_ENST00000406070.2_RNA|PSG7_ENST00000471557.1_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CTGTGCTGTCCTTCCTCCTTC	0.607000													14	31					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41052951	41052951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:41052951C>T	ENST00000253801.2	+	1	137	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	G6PC_ENST00000585489.1_Nonsense_Mutation_p.Q20*|G6PC_ENST00000592383.1_Nonsense_Mutation_p.Q20*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	20			Q -> R (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.Q20*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACATTACCTCCAGGTGAATTA	0.502000													42	74					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18258346	18258346	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:18258346C>T	ENST00000262811.5	+	26	3306	c.3306C>T	c.(3304-3306)tcC>tcT	p.S1102S	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1102	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CACTGTCATCCAGTGAGAGCC	0.652000													4	9					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39832813	39832813	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:39832813G>A	ENST00000538976.1	+	5	573	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.E131K|DAAM2_ENST00000398904.2_Missense_Mutation_p.E131K	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	131	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAAGTCGTGGAAGACCTGAA	0.562000											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228169718	228169718	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:228169718G>A	ENST00000396578.3	+	47	4333	c.4171G>A	c.(4171-4173)Ggt>Agt	p.G1391S	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1391	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGGGCCAAGAGGTAAGCCAGG	0.473000													6	34					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60881720	60881720	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:60881720G>A	ENST00000253003.2	+	5	517	c.471G>A	c.(469-471)caG>caA	p.Q157Q	ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	157	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GTGGCCTGCAGAGCCTGCTGG	0.682000													3	8					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404430	197404430	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:197404430A>G	ENST00000367397.1	+	5	2438	c.1580A>G	c.(1579-1581)aAc>aGc	p.N527S	CRB1_ENST00000367400.3_Missense_Mutation_p.N1146S|CRB1_ENST00000367399.2_Missense_Mutation_p.N1034S|CRB1_ENST00000544212.1_Missense_Mutation_p.N627S|CRB1_ENST00000535699.1_Missense_Mutation_p.N1122S|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1146	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAACTCCAACCCCTGTTTG	0.428000													22	105					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269135	63269135	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:63269135G>A	ENST00000322893.7	-	9	2002	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	KCNH5_ENST00000394968.1_Silent_p.Y520Y|KCNH5_ENST00000420622.2_Silent_p.Y578Y	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	578					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCCAGCATGGTAAATGAGGT	0.512000													10	92					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207273178	207273178	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:207273178C>T	ENST00000243611.5	+	6	957	c.663C>T	c.(661-663)aaC>aaT	p.N221N	C4BPB_ENST00000367076.3_Silent_p.N220N|C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000391923.1_Silent_p.N221N|C4BPB_ENST00000367078.3_Silent_p.N221N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	221					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						CCATGGAGAACTTTATGCAAC	0.393000													35	119					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159554574	159554574	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:159554574A>G	ENST00000307765.5	+	12	1168	c.917A>G	c.(916-918)aAg>aGg	p.K306R	RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000470033.1_Missense_Mutation_p.K273R|RXFP1_ENST00000448688.2_Missense_Mutation_p.K201R|RXFP1_ENST00000460056.2_Missense_Mutation_p.K225R	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	306						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGAAGTAATAAGATTGAAAAT	0.313000													23	39					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33491062	33491062	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:33491062C>T	ENST00000268876.5	+	9	1125	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	UNC45B_ENST00000394570.2_Missense_Mutation_p.S343F|UNC45B_ENST00000378449.1_Missense_Mutation_p.S343F|UNC45B_ENST00000433649.1_Missense_Mutation_p.S343F|UNC45B_ENST00000591048.1_Missense_Mutation_p.S343F	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	343					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GATCTGCCATCCTGCCTGCCC	0.582000													50	163					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316185	43316185	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:43316185G>C	ENST00000361428.2	-	6	3026	c.2949C>G	c.(2947-2949)aaC>aaG	p.N983K	ZNF318_ENST00000318149.3_Missense_Mutation_p.N983K	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	983					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TATCGAAGATGTTAATTCCCA	0.428000													72	251					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36979536	36979536	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:36979536G>A	ENST00000274963.8	+	4	604	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	145	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTTCCCAGAGGATGTGGTCAG	0.582000													32	78					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891960	18891960	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:18891960G>A	ENST00000317658.3	+	1	916	c.758G>A	c.(757-759)aGa>aAa	p.R253K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	253					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAAGCCCTGAGAAAAATTCTA	0.423000													24	67					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826089	76826089	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:76826089C>T	ENST00000248598.5	-	2	859	c.827G>A	c.(826-828)gGa>gAa	p.G276E	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	276	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTGAGGTTTCCAAAGCCTGC	0.473000													45	133					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541096	12541096	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:12541096G>A	ENST00000301547.5	-	4	2087	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	630					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTCTATGCAAGGAACTGAGAG	0.403000													28	131					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603308	37603308	+	Missense_Mutation	SNP	C	C	T	rs149879896	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:37603308C>T	ENST00000328544.3	-	2	1068	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	SSTR3_ENST00000402501.1_Missense_Mutation_p.V179M	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	179					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GAGAAGACCACCACGGGCAGC	0.731000													7	27					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32821443	32821443	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:32821443C>T	ENST00000354258.4	-	1	312	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	51					antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CGGTCCCGGCCGGGCCTGGGA	0.746000													6	10					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337513	151337513	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:151337513C>T	ENST00000426705.2	-	11	1415	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q	SELENBP1_ENST00000435071.1_Missense_Mutation_p.R318Q|SELENBP1_ENST00000368868.5_Missense_Mutation_p.R382Q|SELENBP1_ENST00000447402.3_Missense_Mutation_p.R320Q	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	382					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAGCCACCCGTTTTCCCTT	0.577000													4	11					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397067	397067	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:397067G>A	ENST00000331563.2	+	3	642	c.566G>A	c.(565-567)gGg>gAg	p.G189E		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	189					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGGCCCGGGGGCCTGGAC	0.711000													7	42					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575513	12575513	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:12575513C>T	ENST00000397732.3	-	4	1394	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ZNF709_ENST00000428311.1_Missense_Mutation_p.R408Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGCATTCGAAAGGAACT	0.408000													93	167					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885347	12885347	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:12885347G>A	ENST00000535591.1	-	4	959	c.764C>T	c.(763-765)tCg>tTg	p.S255L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	255										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GACCTTTAACGAGGTCTTCAG	0.493000													134	332					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779926	159779926	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:159779926C>T	ENST00000321935.6	+	7	1036	c.950C>T	c.(949-951)cCt>cTt	p.P317L	FCRL6_ENST00000339348.5_Missense_Mutation_p.P310L|FCRL6_ENST00000368106.3_Missense_Mutation_p.P310L|FCRL6_ENST00000392235.3_Missense_Mutation_p.P215L			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	310						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGGCTGGTTCCTTGGCTTCCT	0.512000													77	123					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30938609	30938609	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:30938609A>G	ENST00000298139.5	+	9	1315	c.1066A>G	c.(1066-1068)Aaa>Gaa	p.K356E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	356					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCATTTAGCTAAACATGATGG	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				69	94					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50122723	50122723	+	RNA	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:50122723C>T	ENST00000376025.2	-	0	2823							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAGATGGTTTCTCCATCACAC	0.458000													22	19					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69252815	69252815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:69252815G>A	ENST00000551568.1	-	8	1037	c.977C>T	c.(976-978)cCa>cTa	p.P326L	CPM_ENST00000546373.1_Missense_Mutation_p.P326L|CPM_ENST00000338356.3_Missense_Mutation_p.P326L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	326					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATTGGGTAATGGATTTCCATT	0.318000													34	89					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554778	19554778	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:19554778C>T	ENST00000328405.2	+	13	2662	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	799						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTGCAACTTTCAACTTTGAAT	0.423000													59	104					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854558	144854558	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:144854558G>A	ENST00000369359.4	-	45	7358	c.7320C>T	c.(7318-7320)aaC>aaT	p.N2440N	PDE4DIP_ENST00000313382.9_Silent_p.N2198N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.N2304N|PDE4DIP_ENST00000369356.4_Silent_p.N2304N|PDE4DIP_ENST00000530740.1_Silent_p.N2389N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2304					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTCTGCTGGTTGGCGTTCT	0.512000			T	PDGFRB	MPD								34	333					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155530869	155530869	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:155530869G>A	ENST00000404648.3	-	6	818	c.579C>T	c.(577-579)taC>taT	p.Y193Y	FGG_ENST00000407946.1_Silent_p.Y201Y|FGG_ENST00000405164.1_Silent_p.Y201Y|FGG_ENST00000336098.3_Silent_p.Y193Y	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	193	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTTAATAAAGTAAAGCCCGC	0.408000													44	73					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242587	53242587	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:53242587G>A	ENST00000304620.4	-	1	191	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	43	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCCCCAAAGGAATTAAGGCT	0.672000													10	19					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138849938	138849938	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:138849938C>T	ENST00000464848.1	+	9	933	c.853C>T	c.(853-855)Cct>Tct	p.P285S	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000478836.2_Missense_Mutation_p.P179S|TTC26_ENST00000495038.1_Missense_Mutation_p.P154S|TTC26_ENST00000430935.1_Missense_Mutation_p.P285S|TTC26_ENST00000343187.4_Missense_Mutation_p.P254S			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	285							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TGATGTCATTCCTGAAGCTAG	0.378000													9	36					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160102	132160102	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:132160102G>A	ENST00000511190.1	-	6	2616	c.2147C>T	c.(2146-2148)cCt>cTt	p.P716L	USP26_ENST00000406273.1_Missense_Mutation_p.P716L|USP26_ENST00000370832.1_Missense_Mutation_p.P716L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	716					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTAGTAGGATTGATAAT	0.348000													34	29					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121004775	121004775	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:121004775C>T	ENST00000325954.4	+	13	2494	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F	RNF10_ENST00000413266.2_Missense_Mutation_p.S683F	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	678					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCCAGGTTCCCATGCAGGT	0.498000													28	85					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57572190	57572190	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:57572190G>A	ENST00000243077.3	+	27	4876	c.4410G>A	c.(4408-4410)gaG>gaA	p.E1470E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1470					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCACATGGAGGTGCTTCGGG	0.577000													15	45					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89680035	89680035	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:89680035G>A	ENST00000264344.5	-	14	1803	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	FAM13A_ENST00000503556.1_Silent_p.I192I|FAM13A_ENST00000508369.1_Silent_p.I206I|FAM13A_ENST00000395002.2_Silent_p.I206I|FAM13A_ENST00000513837.1_Silent_p.I178I|FAM13A_ENST00000511976.1_Silent_p.I118I	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	532					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GATGCTCCTGGATCTTCATTG	0.517000													21	57					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48595380	48595380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:48595380G>A	ENST00000262384.3	-	2	1410	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	392					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGTCTTCTTGGAATCTTTTA	0.353000													18	57					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196800945	196800945	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:196800945G>A	ENST00000320493.5	+	6	897	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	CFHR1_ENST00000367424.3_Missense_Mutation_p.R211Q|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	270					complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTAATATCCCGAGAAATTATG	0.328000													17	122					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31604561	31604561	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:31604561G>A	ENST00000379416.3	-	12	1118	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	357	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTCGGAGATGGGGCTGGCAGT	0.582000													5	17					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893104	43893104	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:43893104C>T	ENST00000450892.2	-	25	4887	c.4810G>A	c.(4810-4812)Gag>Aag	p.E1604K	STRC_ENST00000541030.1_Missense_Mutation_p.E831K	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1604					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGGAGCTCCTCTGGCCGCAGT	0.557000													28	91					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96242593	96242593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:96242593G>A	ENST00000347108.3	-	15	2215	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	DZIP1_ENST00000361396.2_Nonsense_Mutation_p.R576*|DZIP1_ENST00000376829.2_Nonsense_Mutation_p.R595*|DZIP1_ENST00000361156.3_Nonsense_Mutation_p.R576*			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	595					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGGAATTCTCGAATTTGATGA	0.368000													31	103					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54707203	54707203	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:54707203G>A	ENST00000545554.1	+	18	4871	c.4871G>A	c.(4870-4872)gGa>gAa	p.G1624E	UNC13C_ENST00000260323.11_Missense_Mutation_p.G1624E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1622E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1624					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G1624E(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAACATGGGAAAAATAAGT	0.299000													19	49					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41337930	41337930	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:41337930C>T	ENST00000551295.2	+	14	1758	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	CNTN1_ENST00000360099.3_Silent_p.I547I|CNTN1_ENST00000348761.2_Silent_p.I536I|CNTN1_ENST00000347616.1_Silent_p.I547I|CNTN1_ENST00000547702.1_Silent_p.I547I|CNTN1_ENST00000547849.1_Silent_p.I547I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	547	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.I547I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCTATGTGATCGATTTTAACA	0.408000													14	59					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737262	4737262	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:4737262C>T	ENST00000545990.2	-	5	1330	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	AKAP3_ENST00000228850.1_Missense_Mutation_p.R269Q	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	269					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.R269L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTCCTGCCCTCGAAACCTCTT	0.443000													27	59					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26166101	26166101	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:26166101G>A	ENST00000335473.7	+	5	1787	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	MYO18B_ENST00000407587.2_Missense_Mutation_p.A513T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A513T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	513						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATGGTATGAGGCAGAGAAAGT	0.512000													31	58					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91430422	91430422	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:91430422G>A	ENST00000328850.3	+	5	632	c.490G>A	c.(490-492)Gac>Aac	p.D164N	FES_ENST00000450438.2_Missense_Mutation_p.D106N|FES_ENST00000414248.2_Missense_Mutation_p.D106N|FES_ENST00000394300.3_Missense_Mutation_p.D106N|FES_ENST00000444422.2_Missense_Mutation_p.D164N|FES_ENST00000394302.1_Missense_Mutation_p.D106N	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	164	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCAGACAAGGACCGTGACAA	0.607000													23	74					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099306	133099306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:133099306C>T	ENST00000515826.1	+	3	874	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Nonsense_Mutation_p.Q251*|TMEM108_ENST00000321871.6_Nonsense_Mutation_p.Q251*			Q6UXF1	TM108_HUMAN	transmembrane protein 108	251						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCACAGCCCCAGACAGTGGC	0.627000													9	33					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496610	20496610	+	RNA	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:20496610G>A	ENST00000555186.1	+	0	663					NR_038836.1																						TCTACTAGTCGAAAGTGGCCT	0.438000													5	59					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665209	6665209	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:6665209C>T	ENST00000326176.9	-	5	724	c.343G>A	c.(343-345)Ggt>Agt	p.G115S	TNFSF14_ENST00000599359.1_Missense_Mutation_p.G151S|TNFSF14_ENST00000245912.3_Missense_Mutation_p.G115S	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	151					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CAGCCCACACCGCCCAGCTGC	0.657000													15	45					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99156043	99156043	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:99156043C>T	ENST00000074304.5	+	10	1116	c.723C>T	c.(721-723)aaC>aaT	p.N241N	INPP4A_ENST00000409540.3_Silent_p.N241N|INPP4A_ENST00000409016.3_Silent_p.N241N|INPP4A_ENST00000523221.1_Silent_p.N241N|INPP4A_ENST00000545415.1_Silent_p.N241N|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.N241N	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	241					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CTGATGGTAACCATTTGCGGA	0.577000													14	65					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482060	228482060	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:228482060G>A	ENST00000570156.2	+	47	12700	c.12626G>A	c.(12625-12627)gGg>gAg	p.G4209E	OBSCN_ENST00000359599.6_Missense_Mutation_p.G2627E|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3780E|OBSCN_ENST00000366709.4_Missense_Mutation_p.G899E|OBSCN_ENST00000422127.1_Missense_Mutation_p.G3780E|OBSCN_ENST00000366707.4_Missense_Mutation_p.G899E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3252	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGATGCCGGGGAGTACTCG	0.602000													51	105					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99380403	99380403	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:99380403T>A	ENST00000370188.3	-	5	1232	c.872A>T	c.(871-873)cAg>cTg	p.Q291L	LPPR5_ENST00000263177.4_Missense_Mutation_p.Q291L	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		291						integral to membrane	hydrolase activity										CATTGGCATCTGTGCCAGATT	0.358000													60	136					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808469	8808469	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:8808469C>T	ENST00000324436.3	-	1	703	c.583G>A	c.(583-585)Gtg>Atg	p.V195M		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	195						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GTGTCCACCACCAGCCCGCTG	0.662000													13	41					0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135631080	135631080	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:135631080G>A	ENST00000370634.3	+	3	717	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CCGTCCTCAGGAATCTGCCGC	0.597000													63	43					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691153	18691153	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:18691153C>T	ENST00000433979.1	+	24	3380	c.3264C>T	c.(3262-3264)aaC>aaT	p.N1088N	PIK3C2G_ENST00000538779.1_Silent_p.N1129N|PIK3C2G_ENST00000266497.5_Silent_p.N1088N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1088	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTGGGAAAAACCCACAGCATT	0.403000													26	77					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073507	9073507	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9073507G>A	ENST00000397910.4	-	3	14142	c.13939C>T	c.(13939-13941)Cca>Tca	p.P4647S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4649	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGGAGTTGGTATGAATGTT	0.443000													26	71					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554221	150554221	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:150554221G>A	ENST00000493429.1	+	4	1247	c.663G>A	c.(661-663)gtG>gtA	p.V221V	AOC1_ENST00000360937.4_Silent_p.V221V|AOC1_ENST00000416793.2_Silent_p.V221V|AOC1_ENST00000467291.1_Silent_p.V221V					amine oxidase, copper containing 1																		AGCTCCTCGTGGATCATGGGA	0.607000													19	90					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266729	107266729	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:107266729C>T	ENST00000334726.2	+	1	275	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTACCTCTTCCTCAGCAATC	0.478000													63	86					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487730	248487730	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:248487730G>A	ENST00000317965.2	-	1	169	c.141C>T	c.(139-141)ctC>ctT	p.L47L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGTAGATGAGGAGAACCATGA	0.527000													146	433					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212553314	212553314	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:212553314G>A	ENST00000261455.4	-	5	698	c.561C>T	c.(559-561)ttC>ttT	p.F187F	TMEM206_ENST00000535273.1_Silent_p.F248F	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	187						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGTTCAGGCGGAACTGGAGGA	0.522000													57	112					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875201	36875201	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:36875201C>T	ENST00000301807.6	-	21	5988	c.4091G>A	c.(4090-4092)aGg>aAg	p.R1364K	TRANK1_ENST00000429976.2_Missense_Mutation_p.R1914K|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1364K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1914					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTACCTTCCCTGTTCAGCAG	0.542000													25	68					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111693857	111693857	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:111693857C>T	ENST00000435970.1	-	15	6283	c.5467G>A	c.(5467-5469)Gag>Aag	p.E1823K	REV3L_ENST00000368802.3_Missense_Mutation_p.E1901K|REV3L_ENST00000358835.3_Missense_Mutation_p.E1901K|REV3L_ENST00000368805.1_Missense_Mutation_p.E1901K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1901					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAAATAGTCTCAGACAGGTCA	0.423000								DNA polymerases (catalytic subunits)					56	83					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860573	43860573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:43860573G>A	ENST00000389420.3	-	9	1248	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P417S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	417	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACATCTAGGATTATCATCA	0.318000													24	64					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61187119	61187119	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:61187119C>A	ENST00000216513.4	-	2	967	c.908G>T	c.(907-909)gGa>gTa	p.G303V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	303						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATCCTCATGTCCCTTGCTGGA	0.468000													41	89					1.15183e-24	1.17691e-24	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23219523	23219523	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:23219523C>T	ENST00000400191.3	+	7	1593	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.F525F|EPHB2_ENST00000374630.3_Silent_p.F525F|EPHB2_ENST00000374627.1_Silent_p.F520F	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	525	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGATGTACTTCCAGACCATGA	0.587000													24	86					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783123	3783123	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:3783123C>T	ENST00000310132.6	-	7	1075		c.e7+1		MATK_ENST00000395040.2_Splice_Site|MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395045.2_Splice_Site	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase						cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTCCCCTACCCCTGGCCAG	0.657000													10	56					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:3216752G>A	ENST00000520002.1	-	22	3784	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	CSMD1_ENST00000537824.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1077C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1077C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1077	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCTAAACGATATCCCAGG	0.557000													30	75					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171553	150171553	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:150171553G>A	ENST00000307271.3	+	4	1710	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	379						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACGTTCTTAAGAAACAGCAAT	0.398000													53	248					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30941224	30941224	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:30941224C>T	ENST00000298139.5	+	10	1528	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	427	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GCATTTATCTCCCAATGATAA	0.274000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				14	79					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043424	51043424	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:51043424A>T	ENST00000399908.2	+	3	1615	c.899A>T	c.(898-900)gAc>gTc	p.D300V	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.D186V|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.D271V|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.D565V|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.D300V	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	566					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTCGCCGGACAGCCCTGAC	0.662000													9	45					0	0	1	0	0
CECR6	27439	broad.mit.edu	37	22	17601208	17601208	+	Silent	SNP	G	G	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:17601208G>C	ENST00000331437.3	-	1	935	c.810C>G	c.(808-810)gcC>gcG	p.A270A	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	270	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGGGCGGCGCGGCGTGGTGGT	0.796000													5	8					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884366	215884366	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:215884366G>A	ENST00000272895.7	-	12	1661	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	ABCA12_ENST00000389661.4_Missense_Mutation_p.T163I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	481					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCTATTTCGGTGCCCAGCTC	0.428000													10	45					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646731	19646731	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:19646731C>T	ENST00000457500.2	-	2	537	c.208G>A	c.(208-210)Gag>Aag	p.E70K	ALDH3A1_ENST00000494157.2_5'UTR|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E70K|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E70K|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E70K	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	70					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TACTCGATCTCCTCTAGGACG	0.612000													29	111					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70359509	70359509	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:70359509C>T	ENST00000288071.6	+	7	770	c.525C>T	c.(523-525)gcC>gcT	p.A175A	DDX19B_ENST00000451014.3_Silent_p.A149A|DDX19B_ENST00000563206.1_Silent_p.A180A|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000355992.3_Silent_p.A144A|DDX19B_ENST00000563392.1_Silent_p.A66A|RP11-529K1.3_ENST00000567706.1_Silent_p.A175A|DDX19B_ENST00000393657.2_Silent_p.A66A|DDX19B_ENST00000568625.1_Silent_p.A66A	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	175	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				ATGAGCTCGCCCTCCAAACAG	0.418000													65	146					0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131190074	131190074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:131190074G>A	ENST00000264995.3	-	7	826	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	MRPL3_ENST00000425847.2_Nonsense_Mutation_p.Q254*	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	227					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTAGCAGGCTGGCCTTTAAAT	0.388000													39	110					0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51535239	51535239	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:51535239G>A	ENST00000525263.1	-	3	469	c.350C>T	c.(349-351)cCc>cTc	p.P117L	CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250351.4_Missense_Mutation_p.P117L|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000319590.4_Missense_Mutation_p.P117L			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	117	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		TACGCGGACGGGCAGGCGCAG	0.677000													12	36					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28956913	28956913	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:28956913C>T	ENST00000359747.4	+	1	68	c.39C>T	c.(37-39)atC>atT	p.I13I	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.I13I	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	13					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCTTTTGATCATTCTAATGG	0.423000													20	38					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104868115	104868115	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:104868115G>A	ENST00000393141.2	-	8	1271	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	CASP5_ENST00000444749.2_Missense_Mutation_p.R343W|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Missense_Mutation_p.R414W|CASP5_ENST00000531367.1_Missense_Mutation_p.R259W|CASP5_ENST00000260315.3_Missense_Mutation_p.R401W|CASP5_ENST00000418434.1_Missense_Mutation_p.R259W	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	401					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTTACCTTCCGAAATATTTCC	0.388000													16	66					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321172	52321172	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:52321172G>A	ENST00000356297.4	-	17	3112	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	PXDNL_ENST00000543296.1_Silent_p.I1004I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1004					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCGCGCCCACGATCTTCCTGG	0.622000													8	11					0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36235043	36235043	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:36235043G>A	ENST00000412391.2	-	6	365	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.R79W|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.R79W			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	118	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCCCTCCGGAACTGCAGG	0.572000													11	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088815	9088815	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9088815T>A	ENST00000397910.4	-	1	3203	c.3000A>T	c.(2998-3000)aaA>aaT	p.K1000N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1000	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAAGTGAATTTAGAGACCA	0.483000													38	212					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837370	12837370	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:12837370C>T	ENST00000357726.4	+	3	1107	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTGGGATCGTGGATTCCC	0.617000													45	127					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024701	203024701	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:203024701C>T	ENST00000367240.2	+	15	2435	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	PPFIA4_ENST00000599966.1_Silent_p.S151S|PPFIA4_ENST00000447715.2_Silent_p.S635S|PPFIA4_ENST00000272198.6_Silent_p.S151S|PPFIA4_ENST00000295706.4_Silent_p.S151S|PPFIA4_ENST00000414050.2_Silent_p.S364S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	151					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CGGCCCTGTCCCTGGCCAGCG	0.642000													27	42					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833946	45833946	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:45833946C>T	ENST00000397928.1	+	20	3580	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	TRPM2_ENST00000300481.9_Silent_p.I1025I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.I1045I|TRPM2_ENST00000300482.5_Silent_p.I1045I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1045						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACCTCCTCATCGCCATGTTCA	0.657000													91	284					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183032982	183032982	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:183032982G>A	ENST00000351439.5	-	14	1943	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	PDE1A_ENST00000346717.4_Intron|PDE1A_ENST00000358139.2_Missense_Mutation_p.H534Y|PDE1A_ENST00000409365.1_Intron|PDE1A_ENST00000536095.1_Intron|PDE1A_ENST00000331935.6_Intron|PDE1A_ENST00000435564.1_Intron|PDE1A_ENST00000410103.1_Missense_Mutation_p.H534Y	NM_001258313.1	NP_001245242.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	534					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTTTACTGATGAATAAACTCA	0.338000													22	48					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10025081	10025081	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:10025081G>A	ENST00000378380.3	+	4	915	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	ANKEF1_ENST00000378392.1_Missense_Mutation_p.G196R|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GTCAAGAGAAGGGGTAGTGGA	0.443000													42	126					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373685	140373685	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:140373685C>T	ENST00000072869.4	+	1	733	c.555C>T	c.(553-555)ttC>ttT	p.F185F	ADCK2_ENST00000476491.1_Silent_p.F185F	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	185						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGAGCGCTTCCTTCGGCAGG	0.597000													32	115					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3237330	3237330	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:3237330C>T	ENST00000355072.5	+	63	8755	c.8610C>T	c.(8608-8610)acC>acT	p.T2870T		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2870					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGAGTCCACCCCCTCCATCA	0.577000													26	32					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62746982	62746982	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:62746982C>T	ENST00000377871.3	-	8	1605	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	SLC22A6_ENST00000421062.2_Missense_Mutation_p.E447K|SLC22A6_ENST00000360421.4_Missense_Mutation_p.E447K|SLC22A6_ENST00000458333.2_Missense_Mutation_p.E447K	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	447					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGATACAGTTCCCCAGTATAC	0.517000													10	50					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41416186	41416186	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:41416186C>T	ENST00000400454.1	-	31	5679	c.5202G>A	c.(5200-5202)agG>agA	p.R1734R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1734					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTGGCATTCCTCCTGGTGG	0.592000													9	24					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753756	140753756	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:140753756C>T	ENST00000517434.1	+	1	106	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCTATTCCCGAGGAGCT	0.662000													9	39					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99032606	99032606	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:99032606T>A	ENST00000292478.4	-	2	510	c.260A>T	c.(259-261)gAg>gTg	p.E87V	PTCD1_ENST00000555673.1_Missense_Mutation_p.E136V|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.E136V	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAAAACTCTCCTCCTCCTC	0.602000													40	105					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415739	65415739	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:65415739G>A	ENST00000330909.8	-	12	1622	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	MAGI1_ENST00000483466.1_Silent_p.S541S|MAGI1_ENST00000402939.2_Silent_p.S541S|MAGI1_ENST00000497477.2_Silent_p.S541S	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	541	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAATGGGGATGGACTGGAAGA	0.498000													19	47					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145107471	145107471	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:145107471G>A	ENST00000426825.1	-	23	3265	c.3184C>T	c.(3184-3186)Ccc>Tcc	p.P1062S	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1062							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GAGCCTCGGGGAATGACCACG	0.726000													4	7					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6291937	6291937	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:6291937G>A	ENST00000525462.1	+	4	718	c.715G>A	c.(715-717)Ggg>Agg	p.G239R	CCKBR_ENST00000532715.1_Missense_Mutation_p.G155R|CCKBR_ENST00000334619.2_Missense_Mutation_p.G239R			P32239	GASR_HUMAN	cholecystokinin B receptor	197					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)	CGTGGCCTACGGGCTTATCTC	0.582000													16	61					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121500244	121500244	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:121500244C>T	ENST00000260197.7	+	48	6746	c.6617C>T	c.(6616-6618)tCa>tTa	p.S2206L	SORL1_ENST00000525532.1_Missense_Mutation_p.S1150L|SORL1_ENST00000527934.1_Missense_Mutation_p.S821L|SORL1_ENST00000532694.1_Missense_Mutation_p.S1052L|SORL1_ENST00000534286.1_Missense_Mutation_p.S1116L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2206					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTGGATTTTCAGATGACGTC	0.398000													18	64					0	0	1	0	0
CD70	970	broad.mit.edu	37	19	6586259	6586259	+	Silent	SNP	C	C	A	rs148252487		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:6586259C>A	ENST00000245903.3	-	3	503	c.354G>T	c.(352-354)acG>acT	p.T118T	CD70_ENST00000423145.3_Silent_p.T118T	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	118					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TGGAGGCCGTCGTGGAGGAGC	0.612000													23	38					2.41591e-17	2.4618e-17	1	1	0
RNF123	63891	broad.mit.edu	37	3	49740938	49740938	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:49740938C>T	ENST00000327697.6	+	21	1973	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L	RNF123_ENST00000432042.1_Missense_Mutation_p.S464L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	610						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCCTCCTCTCGCACCTGCGG	0.622000											OREG0015571	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33626515	33626515	+	Silent	SNP	C	C	T	rs2296344		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:33626515C>T	ENST00000374316.5	+	6	1498	c.438C>T	c.(436-438)aaC>aaT	p.N146N	ITPR3_ENST00000605930.1_Silent_p.N146N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	146	MIR 1.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGGAGAAGAACGCCATGCGGG	0.612000													44	173					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155792216	155792216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:155792216G>A	ENST00000437809.1	-	4	871	c.749C>T	c.(748-750)aCc>aTc	p.T250I	GON4L_ENST00000271883.5_Missense_Mutation_p.T250I|GON4L_ENST00000368331.1_Missense_Mutation_p.T250I|GON4L_ENST00000361040.5_Missense_Mutation_p.T250I|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	250					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTCCTCTTGGTACCCTTTTT	0.438000													59	118					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973695	46973695	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:46973695G>C	ENST00000313683.10	-	2	903	c.598C>G	c.(598-600)Ccg>Gcg	p.P200A	PNMAL1_ENST00000438932.2_Missense_Mutation_p.P200A|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	200										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCAAGCCCCGGTTCTTTCTTC	0.597000													15	80					0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11301671	11301671	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:11301671G>A	ENST00000284486.4	-	2	788	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	FAM167A_ENST00000534308.1_Missense_Mutation_p.P84S|FAM167A_ENST00000528897.1_Missense_Mutation_p.P84S	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	84										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TCTCTCAGGGGGAGCAAGGGC	0.687000													14	61					0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133100506	133100506	+	Silent	SNP	G	G	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:133100506G>T	ENST00000275227.4	-	7	792	c.696C>A	c.(694-696)atC>atA	p.I232I	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Silent_p.I106I	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	232					transmembrane transport	integral to membrane											TGGGTAAAGCGATCAGTTTCC	0.378000													35	42					1.4065e-29	1.43907e-29	1	1	0
CXXC5	51523	broad.mit.edu	37	5	139060139	139060139	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:139060139G>T	ENST00000302517.3	+	2	745	c.31G>T	c.(31-33)Gcc>Tcc	p.A11S	CXXC5_ENST00000511048.1_Missense_Mutation_p.A11S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	11					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCAGGATGCCGgcggcag	0.687000													4	10					5.9392e-07	5.971e-07	1	1	0
OR6C3	254786	broad.mit.edu	37	12	55725800	55725800	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:55725800G>A	ENST00000379667.1	+	1	316	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTTCATGGGGGTGACTGAATT	0.433000													59	134					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076675	34076675	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:34076675G>A	ENST00000373381.4	-	41	6485	c.6309C>T	c.(6307-6309)tcC>tcT	p.S2103S	CSMD2_ENST00000373388.2_Silent_p.S202S|CSMD2_ENST00000373377.1_Silent_p.S202S|CSMD2_ENST00000373380.1_Silent_p.S976S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2063						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCGATTCTGGGAGTGGTCGC	0.567000													12	22					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78192159	78192159	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:78192159T>A	ENST00000535157.1	+	25	1636	c.1466T>A	c.(1465-1467)aTt>aAt	p.I489N	SCEL_ENST00000377246.3_Missense_Mutation_p.I511N|SCEL_ENST00000349847.3_Missense_Mutation_p.I531N	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	531	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GACAATCTTATTAAAGTGAAA	0.368000													27	118					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581636	82581636	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:82581636C>T	ENST00000423517.2	-	5	8970	c.8633G>A	c.(8632-8634)gGt>gAt	p.G2878D	PCLO_ENST00000333891.8_Missense_Mutation_p.G2878D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2809					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						ATTTGTGACACCAACAGGAGG	0.463000													29	87					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30124747	30124747	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:30124747G>A	ENST00000449742.2	-	5	939	c.864C>T	c.(862-864)ctC>ctT	p.L288L	TRIM10_ENST00000376704.3_Silent_p.L288L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	288						cytoplasm	zinc ion binding			ovary(1)	1						TCTGCAGCGGGAGGGCCTGCT	0.597000													20	81					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49221845	49221845	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:49221845G>A	ENST00000340334.7	-	4	696	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	FOLH1_ENST00000356696.3_Missense_Mutation_p.P125S|FOLH1_ENST00000533034.1_Missense_Mutation_p.P110S|FOLH1_ENST00000256999.2_Missense_Mutation_p.P125S|FOLH1_ENST00000343844.4_Intron	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	125					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATGTAGTTGGGATGAGTCTTA	0.338000													5	11					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113308578	113308578	+	Splice_Site	SNP	A	A	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:113308578A>G	ENST00000263331.5	+	5	1341	c.762_splice	c.e5+1	p.K254_splice	POLR1B_ENST00000409894.3_Splice_Site_p.K254_splice|POLR1B_ENST00000417433.2_Splice_Site_p.K198_splice|POLR1B_ENST00000537335.1_Splice_Site_p.K43_splice|POLR1B_ENST00000541869.1_Splice_Site_p.K292_splice	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	254					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTGCACTTAAGGTATGACTT	0.358000													61	173					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103183261	103183261	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:103183261G>A	ENST00000428762.1	-	43	6747	c.6588C>T	c.(6586-6588)atC>atT	p.I2196I	RELN_ENST00000424685.2_Silent_p.I2196I|RELN_ENST00000343529.5_Silent_p.I2196I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2196					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTAGAAAGGATTCCACACT	0.383000													37	111					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178436548	178436548	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:178436548G>A	ENST00000448150.3	+	17	4455	c.3637G>A	c.(3637-3639)Gat>Aat	p.D1213N	RASAL2_ENST00000367649.3_Missense_Mutation_p.D1224N|RASAL2_ENST00000462775.1_Missense_Mutation_p.D1083N	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1083					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAAAATAATTGATGCACAGGT	0.428000													29	52					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898493	75898493	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:75898493G>A	ENST00000377636.3	-	11	2424	c.2078C>T	c.(2077-2079)tCc>tTc	p.S693F	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S693F|TBC1D4_ENST00000377625.2_Intron	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	693	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAGACTGGAGGAAGAATTACT	0.413000													13	63					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36901955	36901955	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:36901955A>C	ENST00000397224.4	-	2	608	c.515T>G	c.(514-516)gTg>gGg	p.V172G	FOXRED2_ENST00000397223.4_Missense_Mutation_p.V172G|FOXRED2_ENST00000216187.6_Missense_Mutation_p.V172G	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	172					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGATGCACCTGGCCCTT	0.587000													26	81					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439301	150439301	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:150439301C>T	ENST00000358647.3	+	3	441	c.74C>T	c.(73-75)cCa>cTa	p.P25L	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGCAACACCACCGGCATTG	0.453000													26	116					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118147032	118147032	+	Silent	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:118147032C>T	ENST00000365713.2	+	8	1882	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	LONRF3_ENST00000304778.7_Silent_p.I573I|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.I614I|LONRF3_ENST00000422289.2_Silent_p.I358I			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	614	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCCTAGAGATCAGAAATGTTC	0.507000													73	55					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96779469	96779469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:96779469G>A	ENST00000359933.4	-	25	4668	c.3775C>T	c.(3775-3777)Ctt>Ttt	p.L1259F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1259										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACGGTAAGAAGAGATCGGATT	0.378000													17	78					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504278	220504278	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:220504278C>T	ENST00000358055.3	+	20	3610	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	SLC4A3_ENST00000317151.3_Missense_Mutation_p.S1033F|SLC4A3_ENST00000273063.6_Missense_Mutation_p.S1060F|SLC4A3_ENST00000373760.2_Missense_Mutation_p.S1033F|SLC4A3_ENST00000373762.3_Missense_Mutation_p.S1060F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1033	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCATTGGCTCCCTGGGGGGG	0.652000													5	58					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61048386	61048386	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:61048386G>A	ENST00000335613.5	-	8	1495	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	370						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCCCTGGGTGAGGAAGGGGT	0.677000													2	4					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080470	194080470	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:194080470G>A	ENST00000347624.3	-	2	1388	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LRRC15_ENST00000439944.2_Missense_Mutation_p.R441C|LRRC15_ENST00000428839.1_Missense_Mutation_p.R441C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	435	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGCCAGTTGCGGAGCGGAAGG	0.562000													11	28					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57372336	57372336	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:57372336C>T	ENST00000607273.1	+	8	829	c.742C>T	c.(742-744)Cct>Tct	p.P248S	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	248					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAGACTTCAGCCTCTGCTCAA	0.418000													5	66					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320340	38320340	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:38320340G>A	ENST00000379705.3	-	3	1488	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	TRPC4_ENST00000379681.3_Silent_p.L211L|TRPC4_ENST00000358477.2_Silent_p.L211L|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Silent_p.L211L|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Silent_p.L211L|TRPC4_ENST00000355779.2_Silent_p.L211L|TRPC4_ENST00000426868.2_Silent_p.L211L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	211					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCGCTTGACAGTGCAATGAGA	0.493000													18	76					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125867302	125867302	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:125867302G>A	ENST00000392693.3	-	12	2289	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	CDON_ENST00000531738.1_Missense_Mutation_p.P98L|CDON_ENST00000263577.7_Missense_Mutation_p.P721L	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	721	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGGTGCCTCTGGAACTAAACA	0.438000													4	16					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42839288	42839288	+	Silent	SNP	C	C	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:42839288C>G	ENST00000334370.4	+	4	1295	c.660C>G	c.(658-660)gcC>gcG	p.A220A	MEGF8_ENST00000251268.6_Silent_p.A220A	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	220						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGTGAGTGCCAGGGACCCTG	0.652000													6	25					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349799	233349799	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:233349799G>A	ENST00000304546.1	-	4	1068	c.858C>T	c.(856-858)atC>atT	p.I286I	ECEL1_ENST00000409941.1_Silent_p.I286I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	286				I -> V (in Ref. 1; CAA76113).	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)		ATGCTGCCAGGATCTGCACCA	0.652000													15	20					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170040	58170040	+	Silent	SNP	G	G	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:58170040G>A	ENST00000309403.2	-	1	842	c.843C>T	c.(841-843)ccC>ccT	p.P281P		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTCAGCATGGGGATGACCA	0.433000													17	85					0	0	1	0	0
DDX11L1	100287102	broad.mit.edu	37	1	13417	13418	+	RNA	INS	-	-	GAGA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:13417_13418insGAGA	ENST00000456328.2	+	0	665_666					NR_046018.2|NR_051986.1																						TCCACCACCCCGAGATCACATT	0.559													8	36	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113569025	113569025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:113569025delT	ENST00000297405.5	-	25	4445	c.4201delA	c.(4201-4203)ggfs	p.R1401fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.R1361fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.R1401fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.R1297fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1401	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCATGCCCTTCTCTCCCCT	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	82	---	---	---	---					
NPIPB5	100132247	broad.mit.edu	37	16	22545540	22545558	+	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	CGAGCGTCTGCGGGGGCCG	-			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENST00000424340.1	+	7	1515_1533	c.1236_1254delCGAGCGTCTGCGGGGGCCG	c.(1234-1254)gcfs	p.AERLRGP412fs	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.562													5	9	---	---	---	---					
RP11-1094M14.11	0	broad.mit.edu	37	17	33900514	33900515	+	RNA	INS	-	-	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:33900514_33900515insA	ENST00000592381.1	+	0	382																											gaccctgtcttaaaaaaaaaaa	0.411													2	4	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													9	65	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													14	112	---	---	---	---					
