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
TTN	7273	broad.mit.edu	37	2	179587246	179587246	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179587246C>G	ENST00000589042.1	-	77	22492	c.22268G>C	c.(22267-22269)aGa>aCa	p.R7423T	TTN_ENST00000342992.6_Missense_Mutation_p.R6179T|TTN_ENST00000591111.1_Missense_Mutation_p.R7106T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7106	Ig-like 56.						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)			CTTTAATTGTCTTGCAAAAGA	0.418000													23	120					0	0	0.750413	0	0
C12orf4	57102	broad.mit.edu	37	12	4614499	4614499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:4614499C>A	ENST00000261250.3	-	10	1297	c.1210G>T	c.(1210-1212)Gag>Tag	p.E404*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E404*|C12orf4_ENST00000509318.2_5'UTR	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	404										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TAGTTCCTCTCAGCATTCTTA	0.279000													8	57					1.12685e-05	1.33556e-05	0.307466	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136445	40136445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:40136445C>A	ENST00000278198.2	-	2	3361	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	LRRC4C_ENST00000527150.1_Missense_Mutation_p.Q466H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.Q466H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.Q466H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	466					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGCCTCATCCTGAGACGGTT	0.512000													8	41					0.0581538	0.0600447	0.335167	1	0
MEN1	4221	broad.mit.edu	37	11	64575464	64575464	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:64575464C>A	ENST00000337652.1	-	3	1071	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	MEN1_ENST00000394376.1_Missense_Mutation_p.V190L|MEN1_ENST00000394374.2_Missense_Mutation_p.V190L|MEN1_ENST00000377316.2_Missense_Mutation_p.V185L|MEN1_ENST00000312049.6_Missense_Mutation_p.V185L|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000315422.4_Missense_Mutation_p.V185L|MEN1_ENST00000443283.1_Missense_Mutation_p.V190L|MEN1_ENST00000377326.3_Missense_Mutation_p.V185L|MEN1_ENST00000377313.1_Missense_Mutation_p.V190L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	190					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGCCCAAACACTACCCAGGCA	0.647000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				13	79					0.000151284	0.000171456	0.435327	1	0
XIRP2	129446	broad.mit.edu	37	2	168104433	168104433	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:168104433C>A	ENST00000409195.1	+	9	6620	c.6531C>A	c.(6529-6531)gaC>gaA	p.D2177E	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1955E|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2177E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2002	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAACTTACGACCTTTCAGGGG	0.368000													3	56					0.150653	0.153573	0.150653	1	0
FTO	79068	broad.mit.edu	37	16	53907721	53907721	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:53907721C>T	ENST00000471389.1	+	5	1141	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	FTO_ENST00000394647.3_Missense_Mutation_p.H11Y	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	307	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CACCCACCAACACTGTGTTTT	0.373000													49	127					0	0	0.870114	0	0
POLQ	10721	broad.mit.edu	37	3	121256044	121256044	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:121256044C>A	ENST00000264233.5	-	5	771	c.643G>T	c.(643-645)Gtg>Ttg	p.V215L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	215	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AATTCATCCACAACCACCATT	0.363000								DNA polymerases (catalytic subunits)					5	76					5.18039e-06	6.22757e-06	0.278610	1	0
OR5A1	219982	broad.mit.edu	37	11	59211002	59211002	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:59211002A>G	ENST00000302030.2	+	1	386	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCTGACTGCTATGGCATACGA	0.532000													64	368					0	0	0.870114	0	0
FAT3	120114	broad.mit.edu	37	11	92616494	92616494	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:92616494C>T	ENST00000298047.6	+	23	12889	c.12872C>T	c.(12871-12873)gCc>gTc	p.A4291V	FAT3_ENST00000525166.1_Missense_Mutation_p.A4141V|FAT3_ENST00000409404.2_Missense_Mutation_p.A4291V|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Missense_Mutation_p.A626V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4291					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCTCCCCGCCGTGTCACCC	0.657000										TCGA Ovarian(4;0.039)			22	42					0	0	0.639603	0	0
ZNF831	128611	broad.mit.edu	37	20	57766943	57766943	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:57766943T>C	ENST00000371030.2	+	1	869	c.869T>C	c.(868-870)cTc>cCc	p.L290P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	290						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCACCTGGGCTCCCAGCGGCC	0.672000													14	109					0	0	0.539581	0	0
PCIF1	63935	broad.mit.edu	37	20	44576187	44576187	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:44576187C>G	ENST00000372409.3	+	17	2272	c.1908C>G	c.(1906-1908)gtC>gtG	p.V636V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	636						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACAAGGCCGTCCACAACACGG	0.657000													11	68					0	0	0.435327	0	0
C10orf128	170371	broad.mit.edu	37	10	50374961	50374961	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:50374961A>C	ENST00000374148.1	-	3	245	c.191T>G	c.(190-192)tTt>tGt	p.F64C	C10orf128_ENST00000474718.1_Missense_Mutation_p.F64C|C10orf128_ENST00000374153.2_Missense_Mutation_p.F64C|C10orf128_ENST00000374151.3_Missense_Mutation_p.F64C|C10orf128_ENST00000470884.1_5'UTR			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	64						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						GTCGTCGTCAAATAAGTGCCT	0.597000													21	91					0	0	0.624587	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47491298	47491298	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:47491298G>C	ENST00000404338.3	+	3	3879	c.3879G>C	c.(3877-3879)gaG>gaC	p.E1293D		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1293	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTGAGATGGAGAGTCTGCAGA	0.572000													7	49					0	0	0.361761	0	0
COL7A1	1294	broad.mit.edu	37	3	48623528	48623528	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:48623528A>T	ENST00000328333.8	-	27	3809	c.3702T>A	c.(3700-3702)tgT>tgA	p.C1234*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.C1234*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1234	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGATGCCTGACACAGGGCTG	0.572000													35	166					0	0	0.864702	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62782698	62782698	+	RNA	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:62782698C>T	ENST00000582986.1	-	0	2351					NR_024386.1																						ATTGTGGTGTCAAACTCAGAG	0.612000													10	47					0	0	0.387290	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866238	30866238	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:30866238C>A	ENST00000215812.4	-	3	225	c.135G>T	c.(133-135)cgG>cgT	p.R45R	SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	45						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGTCAAAATTCCGAGCTGTGG	0.532000													5	21					0.248553	0.251542	0.248553	1	0
RP1	6101	broad.mit.edu	37	8	55541993	55541993	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:55541993C>T	ENST00000220676.1	+	4	5699	c.5551C>T	c.(5551-5553)Cat>Tat	p.H1851Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1851					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCAAATCATCATACAGAGGA	0.418000													6	42					0	0	0.278610	0	0
GOT2	2806	broad.mit.edu	37	16	58752189	58752189	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:58752189T>A	ENST00000245206.5	-	6	741	c.613A>T	c.(613-615)Agt>Tgt	p.S205C	GOT2_ENST00000434819.2_Missense_Mutation_p.S162C|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	205					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGAAGAACACTCTGCTCTGGT	0.478000													23	86					0	0	0.667858	0	0
TNNT2	7139	broad.mit.edu	37	1	201337307	201337307	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:201337307T>A	ENST00000509001.1	-	5	402	c.116A>T	c.(115-117)gAg>gTg	p.E39V	TNNT2_ENST00000367318.5_Missense_Mutation_p.E39V|TNNT2_ENST00000367315.2_Missense_Mutation_p.E39V|TNNT2_ENST00000360372.4_Missense_Mutation_p.E34V|TNNT2_ENST00000367320.2_Missense_Mutation_p.E49V|TNNT2_ENST00000367322.1_Missense_Mutation_p.E39V|TNNT2_ENST00000458432.2_Missense_Mutation_p.E51V|TNNT2_ENST00000367317.4_Missense_Mutation_p.E39V|TNNT2_ENST00000421663.2_Missense_Mutation_p.E41V|TNNT2_ENST00000236918.7_Missense_Mutation_p.E44V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	49					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCTGGTCTCCTCGGTCTCAGC	0.602000													12	77					0	0	0.479597	0	0
MFN1	55669	broad.mit.edu	37	3	179080201	179080201	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:179080201G>T	ENST00000471841.1	+	5	593	c.467G>T	c.(466-468)tGt>tTt	p.C156F	MFN1_ENST00000263969.5_Missense_Mutation_p.C156F|MFN1_ENST00000280653.7_Missense_Mutation_p.C156F	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	156					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAAGCTGGCTGTCTTGTACGT	0.398000													7	96					1.33987e-11	1.90617e-11	0.361761	1	0
TG	7038	broad.mit.edu	37	8	133885383	133885383	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:133885383G>C	ENST00000220616.4	+	5	595	c.555G>C	c.(553-555)gcG>gcC	p.A185A	TG_ENST00000377869.1_Silent_p.A185A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	185	Thyroglobulin type-1 3.				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)		AGTGTTCTGCGGAGGGAGAGT	0.468000													14	43					0	0	0.479597	0	0
OR5L2	26338	broad.mit.edu	37	11	55594981	55594981	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:55594981G>T	ENST00000378397.1	+	1	287	c.287G>T	c.(286-288)gGg>gTg	p.G96V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTTCCTAGGGTGCATGGTG	0.473000										HNSCC(27;0.073)			20	163					2.27525e-19	3.58544e-19	0.667858	1	0
TRRAP	8295	broad.mit.edu	37	7	98608812	98608812	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:98608812G>C	ENST00000359863.4	+	70	11243	c.11034G>C	c.(11032-11034)ctG>ctC	p.L3678L	TRRAP_ENST00000446306.3_Silent_p.L3667L|TRRAP_ENST00000355540.3_Silent_p.L3649L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3678	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGGCTCTGATAGGCTTCG	0.552000													24	127					0	0	0.693898	0	0
OR52I2	143502	broad.mit.edu	37	11	4608625	4608625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:4608625C>A	ENST00000312614.4	+	1	605	c.583C>A	c.(583-585)Cat>Aat	p.H195N		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGGTGAGTCATCTACCTTT	0.502000													21	89					0.000295444	0.000329948	0.624587	1	0
PYGL	5836	broad.mit.edu	37	14	51378580	51378580	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:51378580C>G	ENST00000216392.7	-	16	2169	c.1837G>C	c.(1837-1839)Gga>Cga	p.G613R	PYGL_ENST00000544180.2_Missense_Mutation_p.G579R|PYGL_ENST00000532462.1_Missense_Mutation_p.G613R	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	613					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATGTGATATCCTGGGGCAGCC	0.458000													42	99					0	0	0.870114	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76556031	76556031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:76556031C>G	ENST00000307431.8	+	18	3014	c.2629C>G	c.(2629-2631)Cat>Gat	p.H877D	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H829D|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H881D|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H805D|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	878	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCAGTGGCACCATGTGAGGGT	0.527000													21	201					0	0	0.624587	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871154	51871154	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:51871154G>T	ENST00000371497.5	+	2	2044	c.1157G>T	c.(1156-1158)gGg>gTg	p.G386V	TSHZ2_ENST00000329613.6_Missense_Mutation_p.G383V|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G383V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	386					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)			ATGGAGTGTGGGAGCTCCCAT	0.542000													9	68					6.40141e-05	7.35398e-05	0.387290	1	0
GABRA5	2558	broad.mit.edu	37	15	27128603	27128603	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:27128603C>A	ENST00000335625.5	+	6	1284	c.396C>A	c.(394-396)gaC>gaA	p.D132E	GABRA5_ENST00000355395.5_Missense_Mutation_p.D132E|GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.D132E	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	132					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGACCCCAGACACGTTCTTCC	0.567000													13	62					2.27111e-07	2.89129e-07	0.411799	1	0
AMBN	258	broad.mit.edu	37	4	71459091	71459091	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:71459091G>T	ENST00000322937.6	+	2	166	c.63G>T	c.(61-63)ctG>ctT	p.L21L	AMBN_ENST00000449493.2_Silent_p.L21L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	21					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TATGCCTCCTGGAAATGAGTT	0.373000													32	112					6.4771e-29	1.05835e-28	0.853193	1	0
PRKACB	5567	broad.mit.edu	37	1	84644913	84644913	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:84644913C>T	ENST00000370689.2	+	2	364	c.100C>T	c.(100-102)Cca>Tca	p.P34S	PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370685.3_Missense_Mutation_p.P81S|PRKACB_ENST00000370680.1_Missense_Mutation_p.P40S|PRKACB_ENST00000370682.3_Missense_Mutation_p.P38S|PRKACB_ENST00000370688.3_Missense_Mutation_p.P34S|PRKACB_ENST00000394838.2_Missense_Mutation_p.P41S|PRKACB_ENST00000394839.2_Missense_Mutation_p.P37S	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	34					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ATGGGAGAATCCAACTCAGGT	0.234000													3	49					0	0	0.150653	0	0
LRRN2	10446	broad.mit.edu	37	1	204588135	204588135	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:204588135C>A	ENST00000367175.1	-	1	3198	c.986G>T	c.(985-987)cGc>cTc	p.R329L	LRRN2_ENST00000367176.3_Missense_Mutation_p.R329L|LRRN2_ENST00000367177.3_Missense_Mutation_p.R329L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	329					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTGGAAGGCGCGGGGGTGGAT	0.607000													9	35					0.000274275	0.000306511	0.307466	1	0
SPOCD1	90853	broad.mit.edu	37	1	32256642	32256642	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:32256642C>A	ENST00000360482.2	-	16	3342	c.3213G>T	c.(3211-3213)caG>caT	p.Q1071H	SPOCD1_ENST00000257100.3_Missense_Mutation_p.Q551H|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.Q1058H	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1071					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGCCCTGGCTCTGCTGCCAGG	0.622000													7	49					1.76689e-08	2.34333e-08	0.335167	1	0
SRP72	6731	broad.mit.edu	37	4	57349352	57349352	+	Silent	SNP	G	G	T	rs138988524	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:57349352G>T	ENST00000342756.5	+	9	1594	c.873G>T	c.(871-873)gcG>gcT	p.A291A	SRP72_ENST00000510663.1_Silent_p.A230A	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	291					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TAACCAATGCGGAAGGAGTAG	0.328000													4	41					0.00024832	0.000278429	0.150653	1	0
SKP2	6502	broad.mit.edu	37	5	36183978	36183978	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:36183978C>T	ENST00000274254.5	+	10	1372	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCGGTTGGACTCTGACATCG	0.373000													19	73					0	0	0.667858	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450663	114450663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:114450663G>T	ENST00000369563.3	+	3	834	c.388G>T	c.(388-390)Gag>Tag	p.E130*	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	130					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGCTAAAGGAGCCAGCCCT	0.483000								Other identified genes with known or suspected DNA repair function					18	85					9.57634e-11	1.34196e-10	0.654019	1	0
MUC21	394263	broad.mit.edu	37	6	30955257	30955257	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:30955257C>A	ENST00000376296.3	+	2	1546	c.1305C>A	c.(1303-1305)gcC>gcA	p.A435A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	435	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAACACAGCCACCAACTCTG	0.577000													13	223					2.32078e-09	3.16522e-09	0.479597	1	0
GDAP2	54834	broad.mit.edu	37	1	118420733	118420733	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:118420733C>T	ENST00000369443.4	-	13	1593	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	GDAP2_ENST00000369442.3_Silent_p.L448L	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	448	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TTTTGTCCTTCAGTCCTGAGA	0.388000													10	43					0	0	0.435327	0	0
FAM47A	158724	broad.mit.edu	37	X	34149089	34149089	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:34149089C>G	ENST00000346193.3	-	1	1358	c.1307G>C	c.(1306-1308)aGg>aCg	p.R436T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	436										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTCAGCGTCCTCCCAGAATC	0.552000													5	24					0	0	0.217242	0	0
MAGOHB	55110	broad.mit.edu	37	12	10763279	10763279	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:10763279C>A	ENST00000320756.2	-	2	185	c.94_splice	c.e2-1	p.G32_splice	MAGOHB_ENST00000539554.1_5'UTR|MAGOHB_ENST00000381881.2_Splice_Site_p.G32_splice	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	32					mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(2)|large_intestine(2)	4						TCTAAGCTTTCCTGTGGGAAG	0.259000													4	27					0.184627	0.187411	0.184627	1	0
BACH1	571	broad.mit.edu	37	21	30699562	30699562	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:30699562T>A	ENST00000399921.1	+	3	1660	c.1417T>A	c.(1417-1419)Tca>Aca	p.S473T	BACH1_ENST00000286800.3_Missense_Mutation_p.S473T	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	473						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGAAGGCTGTTCAAGCAATTT	0.428000													20	87					0	0	0.592651	0	0
IBSP	3381	broad.mit.edu	37	4	88731857	88731857	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:88731857G>A	ENST00000226284.5	+	6	413	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	116	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGGCTATGGAGAGGACGCCAC	0.438000													30	138					0	0	0.779181	0	0
AP3B2	8120	broad.mit.edu	37	15	83328728	83328728	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:83328728C>T	ENST00000261722.3	-	25	3174	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.L1008L|AP3B2_ENST00000535348.1_Silent_p.L957L	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	989					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCATGCCCATCAGCTTTCCTG	0.562000													41	180					0	0	0.870114	0	0
COX8C	341947	broad.mit.edu	37	14	93813657	93813657	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:93813657C>T	ENST00000342144.2	+	1	121	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	15						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CCGCCACTACCGCCGCTTGGC	0.716000													13	31					0	0	0.557998	0	0
PRKCB	5579	broad.mit.edu	37	16	24183644	24183644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:24183644C>A	ENST00000303531.7	+	11	1445	c.1293C>A	c.(1291-1293)caC>caA	p.H431Q	PRKCB_ENST00000321728.7_Missense_Mutation_p.H431Q	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	431	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)	TCATGTATCACATCCAGCAAG	0.512000													7	50					7.48243e-07	9.33501e-07	0.335167	1	0
ZNF566	84924	broad.mit.edu	37	19	36963907	36963907	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:36963907C>A	ENST00000434377.2	-	4	219	c.136_splice	c.e4-1	p.G46_splice	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000454319.1_Silent_p.G47G|ZNF566_ENST00000392170.2_Silent_p.G47G|ZNF566_ENST00000424129.2_Splice_Site_p.G46_splice	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AAATAGAATGCCCTGCTTACA	0.408000													38	176					1.49673e-21	2.39905e-21	0.819951	1	0
BRD9	65980	broad.mit.edu	37	5	884136	884136	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:884136C>T	ENST00000323510.4	-	5	594	c.595G>A	c.(595-597)Gca>Aca	p.A199T	BRD9_ENST00000435709.2_Missense_Mutation_p.A179T|BRD9_ENST00000388890.4_Missense_Mutation_p.A179T|BRD9_ENST00000467963.1_Missense_Mutation_p.A295T|BRD9_ENST00000483173.1_Missense_Mutation_p.A242T|BRD9_ENST00000494422.1_Intron			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	295	Bromo.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TGCTCCTCTGCGGTACTGTCC	0.627000													8	111					0	0	0.278610	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037012	47037012	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:47037012A>C	ENST00000450053.3	+	13	1966	c.1787A>C	c.(1786-1788)cAg>cCg	p.Q596P	NBEAL2_ENST00000292309.5_Missense_Mutation_p.Q596P|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	596							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCCCTGTACAGCGATGGCCA	0.622000													14	164					0	0	0.557998	0	0
NAV1	89796	broad.mit.edu	37	1	201777868	201777868	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:201777868T>C	ENST00000367296.4	+	20	4496	c.4076T>C	c.(4075-4077)cTg>cCg	p.L1359P	NAV1_ENST00000295624.6_Missense_Mutation_p.L1356P|NAV1_ENST00000367297.4_Missense_Mutation_p.L1351P|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.L1299P|NAV1_ENST00000367302.1_Missense_Mutation_p.L1312P|NAV1_ENST00000367295.1_Missense_Mutation_p.L965P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1359					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AATGACCGACTGAAGGTAGCC	0.597000													25	135					0	0	0.693898	0	0
ANXA9	8416	broad.mit.edu	37	1	150967115	150967115	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:150967115T>A	ENST00000368947.4	+	13	1391	c.915T>A	c.(913-915)ctT>ctA	p.L305L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	305					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACTGACCTTCTGAGTATCA	0.483000													35	168					0	0	0.812448	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													3	31					0	0	0.115264	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075793	145075793	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:145075793G>T	ENST00000369359.4	-	1	108	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R24S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R24S|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R24S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		TGAGCCCGGCGGGACGCGCGA	0.706000			T	PDGFRB	MPD								5	159					0.000274275	0.000306511	0.307466	1	0
ASXL3	80816	broad.mit.edu	37	18	31325447	31325447	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:31325447C>T	ENST00000269197.5	+	12	5635	c.5635C>T	c.(5635-5637)Cta>Tta	p.L1879L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAGAATGGCTAAACAAGCA	0.493000													39	225					0	0	0.859065	0	0
HARS	3035	broad.mit.edu	37	5	140059418	140059418	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140059418C>G	ENST00000504366.1	-	3	1963	c.144G>C	c.(142-144)ctG>ctC	p.L48L	HARS_ENST00000307633.3_Silent_p.L77L|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000504156.1_Silent_p.L117L|HARS_ENST00000415192.2_Intron|HARS_ENST00000431330.2_Intron|HARS_ENST00000438307.2_Silent_p.L77L|HARS_ENST00000457527.2_Silent_p.L117L			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	117	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CCTGGTCCTTCAGGTCATAGA	0.433000													4	72					0	0	0.184627	0	0
TNNI3	7137	broad.mit.edu	37	19	55665551	55665551	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55665551G>T	ENST00000344887.5	-	7	538	c.396C>A	c.(394-396)atC>atA	p.I132I	TNNI3_ENST00000588882.1_Silent_p.I107I	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	132	Involved in binding TNC and actin.				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAAGGTCAAAGATCTTCTGAG	0.567000													17	69					9.7654e-05	0.000111274	0.557998	1	0
CD1D	912	broad.mit.edu	37	1	158152891	158152891	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:158152891G>T	ENST00000368171.3	+	5	1330	c.831G>T	c.(829-831)ctG>ctT	p.L277L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	277	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGCTGGCCTGTCCTGTCGGG	0.612000													22	118					2.41591e-17	3.73711e-17	0.681144	1	0
TRRAP	8295	broad.mit.edu	37	7	98497371	98497371	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:98497371C>G	ENST00000359863.4	+	10	990	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q261E|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q261E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	261					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CATTGCCATTCAGGTGTCTGC	0.443000													20	89					0	0	0.624587	0	0
CEP350	9857	broad.mit.edu	37	1	179985001	179985001	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:179985001G>T	ENST00000367607.3	+	11	2488	c.2070G>T	c.(2068-2070)caG>caT	p.Q690H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	690						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGGGTATCAGCCATCTGGAG	0.428000													5	18					1.23904e-05	1.45825e-05	0.184627	1	0
OR6B1	135946	broad.mit.edu	37	7	143701575	143701575	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:143701575C>T	ENST00000408922.2	+	1	554	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AGATCTACTTCATCTCCTGCC	0.517000													10	42					0	0	0.387290	0	0
AJAP1	55966	broad.mit.edu	37	1	4772094	4772094	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:4772094G>C	ENST00000378191.4	+	2	545	c.164G>C	c.(163-165)cGg>cCg	p.R55P	AJAP1_ENST00000378190.3_Missense_Mutation_p.R55P|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	55					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTCCTgccgcggtcgccgccc	0.736000													21	120					0	0	0.608945	0	0
ITGB4	3691	broad.mit.edu	37	17	73725496	73725496	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:73725496C>G	ENST00000200181.3	+	7	904	c.717C>G	c.(715-717)atC>atG	p.I239M	ITGB4_ENST00000579662.1_Missense_Mutation_p.I239M|ITGB4_ENST00000339591.3_Missense_Mutation_p.I239M|ITGB4_ENST00000450894.3_Missense_Mutation_p.I239M|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.I239M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	239	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCGATGCCATCCTGCAGACAG	0.617000													13	35					0	0	0.479597	0	0
TSGA10	80705	broad.mit.edu	37	2	99636909	99636909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:99636909C>A	ENST00000393483.3	-	18	2495	c.1651G>T	c.(1651-1653)Gaa>Taa	p.E551*	TSGA10_ENST00000410001.1_Nonsense_Mutation_p.E551*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.E551*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.E551*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	551					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCAGGAGTTCAATTTCAGAA	0.373000													6	38					0.00116845	0.00127944	0.217242	1	0
RYR2	6262	broad.mit.edu	37	1	237947705	237947705	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:237947705G>T	ENST00000366574.2	+	90	13010	c.12693G>T	c.(12691-12693)ccG>ccT	p.P4231P	RYR2_ENST00000360064.6_Silent_p.P4237P|RYR2_ENST00000542537.1_Silent_p.P4215P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4231					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGGGGCCGAGGATGGCTT	0.542000													7	27					8.12818e-05	9.28069e-05	0.248553	1	0
AIFM2	84883	broad.mit.edu	37	10	71883211	71883211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:71883211C>A	ENST00000307864.1	-	3	457	c.244G>T	c.(244-246)Gta>Tta	p.V82L	AIFM2_ENST00000373248.1_Missense_Mutation_p.V82L	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	82					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATCCCCACTACTAGCCCCTGC	0.582000													18	111					9.04412e-07	1.12168e-06	0.681144	1	0
MAST2	23139	broad.mit.edu	37	1	46471967	46471967	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:46471967G>A	ENST00000361297.2	+	8	1085	c.802G>A	c.(802-804)Gat>Aat	p.D268N	MAST2_ENST00000372008.1_Missense_Mutation_p.D153N|MAST2_ENST00000372009.2_Missense_Mutation_p.D268N	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	268					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCCTACAGCTGATGAGCTGCA	0.527000													36	136					0	0	0.788014	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967186	106967186	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:106967186G>T	ENST00000390622.2	-	0	517																											CCACCACTAGGGTTGATTATT	0.552000													48	180					7.34454e-26	1.19429e-25	0.870114	1	0
LRRK1	79705	broad.mit.edu	37	15	101562064	101562064	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:101562064G>T	ENST00000284395.5	+	15	2145	c.1745G>T	c.(1744-1746)cGg>cTg	p.R582L	LRRK1_ENST00000388948.3_Missense_Mutation_p.R585L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	585					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTGGCCTCCGGGAGCTCCCT	0.562000													7	54					0.00307968	0.00331825	0.278610	1	0
KDM5D	8284	broad.mit.edu	37	Y	21870185	21870185	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrY:21870185C>A	ENST00000541639.1	-	23	3586	c.3299G>T	c.(3298-3300)aGa>aTa	p.R1100I	KDM5D_ENST00000317961.4_Missense_Mutation_p.R1069I|KDM5D_ENST00000382806.2_Missense_Mutation_p.R1012I	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1069					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GGCCTTCTCTCTCCAGGAATG	0.562000													10	13					7.48243e-07	9.33501e-07	0.335167	1	0
ZIM2	23619	broad.mit.edu	37	19	57286462	57286462	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:57286462G>T	ENST00000391708.3	-	12	1720	c.1178C>A	c.(1177-1179)tCc>tAc	p.S393Y	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.S393Y|ZIM2_ENST00000221722.5_Missense_Mutation_p.S393Y|ZIM2_ENST00000601070.1_Missense_Mutation_p.S393Y|ZIM2_ENST00000599935.1_Missense_Mutation_p.S393Y|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACACTGGACGGAAGGCTTTCT	0.468000													11	42					5.50884e-06	6.57544e-06	0.411799	1	0
MPPED1	758	broad.mit.edu	37	22	43831094	43831094	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:43831094T>A	ENST00000417669.1	+	3	809	c.365T>A	c.(364-366)cTg>cAg	p.L122Q	MPPED1_ENST00000542779.1_Missense_Mutation_p.L122Q|MPPED1_ENST00000414469.2_Missense_Mutation_p.L16Q|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.L122Q|MPPED1_ENST00000538182.1_Missense_Mutation_p.L155Q			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	122							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TTCACTGAGCTGGGGCTCCCG	0.662000													6	49					0	0	0.217242	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908678	2908678	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:2908678C>T	ENST00000254695.8	+	15	1306	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.R387W|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.R406W|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.R391W	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	406	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGTCACTGCGCGGGAAGATGT	0.592000													56	258					0	0	0.870114	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328751	88328751	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:88328751G>T	ENST00000325089.6	+	2	1327	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V129L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	370	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAAATCCCCGGTGCCTTTGGA	0.592000													8	85					6.40141e-05	7.35398e-05	0.387290	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702978	27702978	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:27702978G>C	ENST00000438700.3	-	1	319	c.202C>G	c.(202-204)Ctg>Gtg	p.L68V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	68					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						CCCTCTGGCAGGGGTGCATCC	0.706000													21	104					0	0	0.639603	0	0
NF1	4763	broad.mit.edu	37	17	29559881	29559881	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:29559881G>T	ENST00000358273.4	+	26	3861	c.3478G>T	c.(3478-3480)Ggt>Tgt	p.G1160C	NF1_ENST00000356175.3_Missense_Mutation_p.G1160C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1160					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGTAGACAGTGGTCTCATGCA	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	32					3.59834e-05	4.17943e-05	0.217242	1	0
ERN2	10595	broad.mit.edu	37	16	23713778	23713778	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:23713778G>C	ENST00000256797.4	-	10	1326	c.1158C>G	c.(1156-1158)ggC>ggG	p.G386G	ERN2_ENST00000457008.2_Silent_p.G338G	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	338					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGCTGGGTGAGCCCTCTCGCT	0.592000													35	206					0	0	0.840704	0	0
PTPN6	5777	broad.mit.edu	37	12	7066841	7066841	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:7066841G>A	ENST00000456013.1	+	10	1341	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	PTPN6_ENST00000399448.1_Missense_Mutation_p.E369K|PTPN6_ENST00000447931.2_Missense_Mutation_p.E328K|PTPN6_ENST00000318974.9_Missense_Mutation_p.E367K	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	367	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATACTGGCCCGAGGTGGGCAT	0.592000													13	73					0	0	0.500413	0	0
ABRA	137735	broad.mit.edu	37	8	107782261	107782261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:107782261G>T	ENST00000311955.3	-	1	212	c.158C>A	c.(157-159)cCg>cAg	p.P53Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	53					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGTCCCTCCCGGCAGCCAGCC	0.617000													16	115					6.49762e-13	9.40283e-13	0.539581	1	0
UBR5	51366	broad.mit.edu	37	8	103282300	103282300	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:103282300C>A	ENST00000520539.1	-	50	7803	c.7197G>T	c.(7195-7197)gaG>gaT	p.E2399D	UBR5_ENST00000518205.1_Missense_Mutation_p.E128D|UBR5_ENST00000220959.4_Missense_Mutation_p.E2399D|UBR5_ENST00000521922.1_Missense_Mutation_p.E2393D	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2399	PABC.				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			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)			GATAAAGCCTCTCTCCAAGTG	0.463000													26	99					3.99451e-17	6.17333e-17	0.740014	1	0
LPHN2	23266	broad.mit.edu	37	1	82431854	82431854	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:82431854G>A	ENST00000370728.1	+	14	2763	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	LPHN2_ENST00000370725.1_Silent_p.Q706Q|LPHN2_ENST00000271029.4_Silent_p.Q706Q|LPHN2_ENST00000370727.1_Silent_p.Q706Q|LPHN2_ENST00000370713.1_Silent_p.Q693Q|LPHN2_ENST00000370730.1_Silent_p.Q706Q|LPHN2_ENST00000335786.5_Silent_p.Q706Q|LPHN2_ENST00000359929.3_Silent_p.Q693Q|LPHN2_ENST00000394879.1_Silent_p.Q693Q|LPHN2_ENST00000319517.6_Silent_p.Q693Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.Q693Q|LPHN2_ENST00000370723.1_Silent_p.Q693Q|LPHN2_ENST00000370721.1_Silent_p.Q631Q|LPHN2_ENST00000370717.2_Silent_p.Q706Q			O95490	LPHN2_HUMAN	latrophilin 2	706					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCGTCAAACAGAACAGCAGGA	0.378000													14	50					0	0	0.500413	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250668	26250668	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:26250668G>C	ENST00000446824.2	-	1	167	c.166C>G	c.(166-168)Cag>Gag	p.Q56E		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	56					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						GTCGATTTCTGATAGCGGCGG	0.607000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	183					0	0	0.557998	0	0
ITSN1	6453	broad.mit.edu	37	21	35138245	35138245	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:35138245C>T	ENST00000381318.3	+	10	1143	c.855C>T	c.(853-855)ctC>ctT	p.L285L	ITSN1_ENST00000399353.1_Silent_p.L248L|ITSN1_ENST00000437442.2_Silent_p.L285L|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L285L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Silent_p.L285L|ITSN1_ENST00000399355.2_Silent_p.L285L|ITSN1_ENST00000399338.4_Silent_p.L285L|ITSN1_ENST00000399326.3_Silent_p.L285L|ITSN1_ENST00000381285.4_Silent_p.L285L|ITSN1_ENST00000381291.4_Silent_p.L285L|ITSN1_ENST00000379960.5_Silent_p.L285L|ITSN1_ENST00000399352.1_Silent_p.L285L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	285	EF-hand 2.|EH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAATGCACCTCATTGATGTAG	0.423000													28	56					0	0	0.760397	0	0
NPRL3	8131	broad.mit.edu	37	16	139752	139752	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:139752C>A	ENST00000399953.3	-	11	1712	c.1310G>T	c.(1309-1311)cGc>cTc	p.R437L	NPRL3_ENST00000399951.3_Missense_Mutation_p.R258L|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	437							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GCTGAGGCTGCGACCGCCGAC	0.677000													7	25					0.000673444	0.000743217	0.361761	1	0
FAT4	79633	broad.mit.edu	37	4	126370376	126370376	+	Silent	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:126370376A>G	ENST00000394329.3	+	9	8218	c.8205A>G	c.(8203-8205)aaA>aaG	p.K2735K	FAT4_ENST00000335110.5_Silent_p.K1033K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2735	Cadherin 26.				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						ACAGGGAAAAAGTATCTCATT	0.338000													9	49					0	0	0.307466	0	0
PIK3R4	30849	broad.mit.edu	37	3	130454816	130454816	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:130454816C>T	ENST00000356763.3	-	3	1321	c.764G>A	c.(763-765)gGt>gAt	p.G255D		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	255	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TAATGGTACACCTTCTGTAAA	0.318000													19	74					0	0	0.592651	0	0
SFR1	119392	broad.mit.edu	37	10	105883587	105883587	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:105883587C>G	ENST00000336358.5	+	2	956	c.437C>G	c.(436-438)tCa>tGa	p.S146*	SFR1_ENST00000369727.3_Nonsense_Mutation_p.S84*|SFR1_ENST00000369729.3_Nonsense_Mutation_p.S71*			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	84					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CAGACCTTTTCAGAGAAACCA	0.303000													12	75					0	0	0.457914	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445953	213445953	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:213445953G>T	ENST00000366960.3	+	15	3327	c.3177G>T	c.(3175-3177)gtG>gtT	p.V1059V	RPS6KC1_ENST00000543470.1_Silent_p.V847V|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.V1047V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1059					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.V1059V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTACCCCTGTGGATTGGGCAG	0.458000													17	84					1.22574e-08	1.63335e-08	0.624587	1	0
MOGAT2	80168	broad.mit.edu	37	11	75431139	75431139	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:75431139G>T	ENST00000198801.5	+	2	264	c.194G>T	c.(193-195)cGg>cTg	p.R65L	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	65					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GACAAGCCACGGCAGGGGGGC	0.557000													36	208					1.32667e-27	2.16355e-27	0.870114	1	0
SEZ6L	23544	broad.mit.edu	37	22	26736429	26736429	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:26736429G>A	ENST00000529632.2	+	10	2239	c.2043G>A	c.(2041-2043)ttG>ttA	p.L681L	SEZ6L_ENST00000403121.1_Silent_p.L454L|SEZ6L_ENST00000343706.4_Silent_p.L681L|SEZ6L_ENST00000404234.3_Silent_p.L681L|SEZ6L_ENST00000360929.3_Silent_p.L681L|SEZ6L_ENST00000248933.6_Silent_p.L681L|SEZ6L_ENST00000402979.1_Silent_p.L454L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	681	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTGACATCTTGACCATCTACG	0.498000													51	222					0	0	0.870114	0	0
DGCR8	54487	broad.mit.edu	37	22	20080367	20080367	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:20080367A>G	ENST00000351989.3	+	8	2071	c.1642A>G	c.(1642-1644)Att>Gtt	p.I548V	DGCR8_ENST00000407755.1_Intron|DGCR8_ENST00000383024.2_Intron	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	548	DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	p.I548V(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTCGGTGACCATTGATGGTGT	0.428000													4	180					0	0	0.248553	0	0
TMEM258	746	broad.mit.edu	37	11	61557370	61557370	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:61557370T>C	ENST00000543510.1	-	3	1473	c.122A>G	c.(121-123)tAc>tGc	p.Y41C	TMEM258_ENST00000537328.1_Missense_Mutation_p.Y46C|TMEM258_ENST00000535042.1_5'UTR					transmembrane protein 258																		ATCACGAGTGTACTTGGTAGA	0.542000													5	18					0	0	0.248553	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617980	77617980	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:77617980G>T	ENST00000521891.2	+	2	2105	c.1657G>T	c.(1657-1659)Ggc>Tgc	p.G553C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G553C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G553C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G553C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	553						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)			TAGTAACTATGGCATCAGTGG	0.512000										HNSCC(33;0.089)			8	37					0.0477658	0.0494098	0.307466	1	0
SLC6A15	55117	broad.mit.edu	37	12	85257273	85257273	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:85257273C>G	ENST00000266682.5	-	11	2304	c.1763G>C	c.(1762-1764)aGt>aCt	p.S588T	SLC6A15_ENST00000552192.1_Missense_Mutation_p.S481T|SLC6A15_ENST00000309283.7_Missense_Mutation_p.S296T	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	588					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTCACAACACTAGCTATTAG	0.323000													56	117					0	0	0.870114	0	0
SERBP1	26135	broad.mit.edu	37	1	67890002	67890002	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:67890002C>A	ENST00000370995.2	-	5	784	c.699G>T	c.(697-699)gaG>gaT	p.E233D	SERBP1_ENST00000361219.6_Intron|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000370990.5_Missense_Mutation_p.E227D|SERBP1_ENST00000370994.4_Intron			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	233					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATTTGGGGGACTCTCTAAGGA	0.358000													15	45					7.07596e-05	8.11229e-05	0.539581	1	0
SIGLEC12	89858	broad.mit.edu	37	19	51994961	51994961	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:51994961C>G	ENST00000291707.3	-	8	1777	c.1722G>C	c.(1720-1722)agG>agC	p.R574S	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.R456S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	574					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTACTGAGGCCTCGCTTTGT	0.592000													26	131					0	0	0.760397	0	0
ARID1B	57492	broad.mit.edu	37	6	157510821	157510821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:157510821G>C	ENST00000346085.5	+	14	3597	c.3596G>C	c.(3595-3597)gGc>gCc	p.G1199A	ARID1B_ENST00000367148.1_Missense_Mutation_p.G1239A|ARID1B_ENST00000350026.5_Missense_Mutation_p.G1186A|ARID1B_ENST00000275248.4_Missense_Mutation_p.G1181A	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1186					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGTCAACTGGCAGCAATTCC	0.532000													25	157					0	0	0.717897	0	0
KIAA1109	84162	broad.mit.edu	37	4	123141573	123141573	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:123141573T>C	ENST00000264501.4	+	22	2934	c.2561T>C	c.(2560-2562)aTg>aCg	p.M854T	KIAA1109_ENST00000455637.1_Missense_Mutation_p.M854T|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M854T			Q2LD37	K1109_HUMAN	KIAA1109	854					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGGAGACCATGCTGCAACTT	0.373000													14	69					0	0	0.479597	0	0
FOXN3	1112	broad.mit.edu	37	14	89647108	89647108	+	Missense_Mutation	SNP	C	C	T	rs140477845		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:89647108C>T	ENST00000345097.4	-	6	970	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	FOXN3_ENST00000261302.5_Missense_Mutation_p.R285Q|FOXN3_ENST00000557258.1_Missense_Mutation_p.R263Q|FOXN3_ENST00000555353.1_Missense_Mutation_p.R263Q	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	285					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACAGCCCTCGGCTCAGGAC	0.592000													6	30					0	0	0.278610	0	0
LGI2	55203	broad.mit.edu	37	4	25014056	25014056	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:25014056C>T	ENST00000382114.4	-	7	906	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	241						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACGTACACATCGTTCTTGGAG	0.468000													19	98					0	0	0.639603	0	0
C9orf96	169436	broad.mit.edu	37	9	136259458	136259458	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:136259458C>A	ENST00000371957.3	+	8	731	c.624C>A	c.(622-624)aaC>aaA	p.N208K	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	208	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AAGCCCTCAACTTCTCCTTCA	0.577000													27	104					1.08312e-15	1.63488e-15	0.740014	1	0
POLR3E	55718	broad.mit.edu	37	16	22326467	22326467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:22326467G>T	ENST00000299853.5	+	9	747	c.580G>T	c.(580-582)Gag>Tag	p.E194*	POLR3E_ENST00000359210.4_Nonsense_Mutation_p.E194*|POLR3E_ENST00000418581.2_Nonsense_Mutation_p.E158*|POLR3E_ENST00000564209.1_Nonsense_Mutation_p.E194*	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	194					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCAGTCCTATGAGTTCCTGCA	0.647000													5	17					0.248553	0.251542	0.248553	1	0
SSPO	23145	broad.mit.edu	37	7	149515560	149515560	+	RNA	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:149515560C>A	ENST00000378016.2	+	0	11615							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAAGGGTCCACGGTGGAGCCA	0.632000													3	13					0.00909568	0.00960353	0.150653	1	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77515964	77515964	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:77515964C>T	ENST00000477717.1	+	4	928	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	231					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ACACTTGGCTCAGCACTGGCT	0.428000													32	177					0	0	0.788014	0	0
MBD5	55777	broad.mit.edu	37	2	149227513	149227513	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:149227513G>C	ENST00000407073.1	+	9	2998	c.2001G>C	c.(1999-2001)ttG>ttC	p.L667F	MBD5_ENST00000404807.1_Missense_Mutation_p.L667F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	667						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CGACAGTGTTGAGTTTGCTCA	0.468000													22	58					0	0	0.681144	0	0
ZNF611	81856	broad.mit.edu	37	19	53208705	53208705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:53208705C>A	ENST00000543227.1	-	6	1877	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	ZNF611_ENST00000540744.1_Nonsense_Mutation_p.E535*|ZNF611_ENST00000595798.1_Nonsense_Mutation_p.E466*|ZNF611_ENST00000319783.1_Nonsense_Mutation_p.E535*|ZNF611_ENST00000453741.2_Nonsense_Mutation_p.E466*|ZNF611_ENST00000602162.1_Nonsense_Mutation_p.E466*	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TATGGTTTCTCTCCAGTATGA	0.388000													40	218					1.06522e-23	1.72547e-23	0.864702	1	0
ZNF264	9422	broad.mit.edu	37	19	57723415	57723415	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:57723415G>T	ENST00000263095.6	+	4	1364	c.950G>T	c.(949-951)tGc>tTc	p.C317F	ZNF264_ENST00000536056.1_Missense_Mutation_p.C317F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TCCTTTGTGTGCACAGAATGT	0.493000													20	41					3.73194e-20	5.90861e-20	0.592651	1	0
KIAA1045	23349	broad.mit.edu	37	9	34971588	34971588	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:34971588G>T	ENST00000242315.3	+	2	375	c.293G>T	c.(292-294)cGa>cTa	p.R98L	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R98L	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	98							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGGACAAGTCGATTCACACCC	0.617000													61	280					1.07941e-43	1.78981e-43	0.870114	1	0
RFX2	5990	broad.mit.edu	37	19	6007126	6007126	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:6007126C>A	ENST00000303657.5	-	12	1448	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.L408L|RFX2_ENST00000359161.3_Silent_p.L433L	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGCACTGACACAGGGAGATAA	0.652000													16	92					2.94398e-08	3.88606e-08	0.557998	1	0
MRGPRD	116512	broad.mit.edu	37	11	68747504	68747504	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:68747504C>G	ENST00000309106.3	-	1	951	c.952G>C	c.(952-954)Gag>Cag	p.E318Q		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	318						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCCCATCTCATTGGTGCCC	0.687000													8	41					0	0	0.307466	0	0
THRAP3	9967	broad.mit.edu	37	1	36762241	36762241	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:36762241A>G	ENST00000354618.5	+	9	2397	c.2173A>G	c.(2173-2175)Aaa>Gaa	p.K725E	THRAP3_ENST00000469141.2_Missense_Mutation_p.K725E	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	725					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAACGTCGTAAAAAACATAA	0.408000			T	USP6	aneurysmal bone cysts								12	120					0	0	0.435327	0	0
SYCP2	10388	broad.mit.edu	37	20	58489303	58489303	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:58489303T>A	ENST00000357552.3	-	11	863	c.638A>T	c.(637-639)tAt>tTt	p.Y213F	SYCP2_ENST00000371001.2_Missense_Mutation_p.Y213F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	213					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTGTAAGTCATAATCTATTAA	0.279000													7	26					0	0	0.307466	0	0
FLNC	2318	broad.mit.edu	37	7	128478700	128478700	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:128478700G>A	ENST00000325888.8	+	8	1515	c.1254G>A	c.(1252-1254)caG>caA	p.Q418Q	FLNC_ENST00000346177.6_Silent_p.Q418Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	418					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGACCCACAGGGCCGGCGGG	0.647000													48	153					0	0	0.870114	0	0
GNAI1	2770	broad.mit.edu	37	7	79828629	79828629	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:79828629G>T	ENST00000351004.3	+	4	765	c.392G>T	c.(391-393)tGg>tTg	p.W131L	GNAI1_ENST00000457358.2_Missense_Mutation_p.W79L	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	131					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAGAGATTGTGGAAAGATAGT	0.413000													4	57					0.00909568	0.00960353	0.150653	1	0
GEN1	348654	broad.mit.edu	37	2	17962033	17962033	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:17962033A>T	ENST00000381254.2	+	14	1768	c.1554A>T	c.(1552-1554)ccA>ccT	p.P518P	GEN1_ENST00000317402.7_Silent_p.P518P|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	518					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACATTACCACAGGAATCTA	0.378000								Homologous recombination					10	49					0	0	0.411799	0	0
B4GALT4	8702	broad.mit.edu	37	3	118942954	118942954	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:118942954C>T	ENST00000467604.1	-	5	1016	c.625G>A	c.(625-627)Gag>Aag	p.E209K	B4GALT4_ENST00000393765.2_Missense_Mutation_p.E209K|B4GALT4_ENST00000359213.3_Missense_Mutation_p.E209K|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Missense_Mutation_p.E209K|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	209					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGATGCTCCTCACACTTGTAA	0.493000													6	77					0	0	0.307466	0	0
YIPF7	285525	broad.mit.edu	37	4	44638039	44638039	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:44638039C>T	ENST00000332990.5	-	3	268	c.252G>A	c.(250-252)tcG>tcA	p.S84S		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	84						endoplasmic reticulum membrane|integral to membrane		p.S84S(2)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CTGCGTAACCCGATGACATGA	0.413000													8	46					0	0	0.307466	0	0
CNPY4	245812	broad.mit.edu	37	7	99717419	99717419	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:99717419G>C	ENST00000262932.3	+	1	184	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	TAF6_ENST00000437822.2_5'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	18						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCGTGCACGAGGCTTGGGC	0.532000													7	57					0	0	0.278610	0	0
LSMEM1	286006	broad.mit.edu	37	7	112127046	112127046	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:112127046G>T	ENST00000312849.4	+	3	557	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Missense_Mutation_p.G66W	NM_182597.2	NP_872403.1			leucine-rich single-pass membrane protein 1																		GTTTTTTGTGGGGCTGCTAAT	0.398000													14	68					7.81268e-19	1.22542e-18	0.520397	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25748151	25748151	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:25748151G>T	ENST00000586223.1	+	0	538					NR_033892.1																						TGCCCGGTCAGAGCCCGGGAG	0.632000													7	27					3.86212e-05	4.46732e-05	0.361761	1	0
TRAV17	28666	broad.mit.edu	37	14	22466179	22466179	+	RNA	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:22466179G>A	ENST00000390445.2	+	0	256																											CCAGGAGGGTGAAAATGCCAC	0.453000													4	29					0	0	0.184627	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76587203	76587203	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:76587203A>T	ENST00000307431.8	+	23	3848	c.3463A>T	c.(3463-3465)Act>Tct	p.T1155S	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T1107S|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T1159S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T1083S|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1156	Laminin G-like 4.		D -> E (in dbSNP:rs7202925).		cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGACCAGGATACTGCACTGGC	0.517000													12	26					0	0	0.500413	0	0
NAV3	89795	broad.mit.edu	37	12	78400485	78400485	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:78400485G>A	ENST00000397909.2	+	8	1340	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	NAV3_ENST00000228327.6_Silent_p.K389K|NAV3_ENST00000266692.7_Silent_p.K389K|NAV3_ENST00000536525.2_Silent_p.K389K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	389						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.K389N(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAAATTCAAGCTAGTCAATG	0.527000										HNSCC(70;0.22)			26	51					0	0	0.693898	0	0
XAF1	54739	broad.mit.edu	37	17	6674013	6674013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:6674013C>G	ENST00000361842.3	+	6	798	c.559C>G	c.(559-561)Cca>Gca	p.P187A	XAF1_ENST00000346752.4_Missense_Mutation_p.P168A|XAF1_ENST00000441631.1_Missense_Mutation_p.P187A	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	187					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						TGTTGGAAATCCAGAAATTCT	0.343000													16	63					0	0	0.557998	0	0
MC5R	4161	broad.mit.edu	37	18	13826422	13826422	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:13826422G>A	ENST00000324750.3	+	1	880	c.658G>A	c.(658-660)Gcg>Acg	p.A220T		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	220					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CAAGCGGATCGCGGCTCTGCC	0.632000													132	392					0	0	0.870114	0	0
WDR17	116966	broad.mit.edu	37	4	177049931	177049931	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:177049931C>T	ENST00000393643.2	+	6	1085	c.833C>T	c.(832-834)aCa>aTa	p.T278I	WDR17_ENST00000507824.2_Missense_Mutation_p.T285I|WDR17_ENST00000280190.4_Missense_Mutation_p.T302I|WDR17_ENST00000508596.1_Missense_Mutation_p.T278I	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	302										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTTCAAGAACAACACCTATT	0.308000													9	49					0	0	0.387290	0	0
DDR2	4921	broad.mit.edu	37	1	162722885	162722885	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:162722885C>A	ENST00000367922.2	+	5	521	c.82_splice	c.e5-1	p.A28_splice	DDR2_ENST00000367921.3_Splice_Site_p.A28_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	28					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTTGGTCTAGCTATATGCCGC	0.443000													10	72					0.000673444	0.000743217	0.361761	1	0
SNHG14	104472715	broad.mit.edu	37	15	25333000	25333000	+	RNA	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:25333000T>C	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TGTGGTCTCTTATGGGTGATG	0.488000													5	10					0	0	0.184627	0	0
ABCA5	23461	broad.mit.edu	37	17	67266767	67266767	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:67266767G>A	ENST00000392676.3	-	22	3081	c.3017C>T	c.(3016-3018)aCc>aTc	p.T1006I	ABCA5_ENST00000588877.1_Missense_Mutation_p.T1006I|ABCA5_ENST00000392677.2_Missense_Mutation_p.T1007I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1006					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAAGAATGGGGTACTCCAGAT	0.274000													5	290					0	0	0.278610	0	0
WRAP53	55135	broad.mit.edu	37	17	7606575	7606575	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:7606575T>G	ENST00000316024.5	+	10	3766	c.1418T>G	c.(1417-1419)cTg>cGg	p.L473R	WRAP53_ENST00000431639.2_Missense_Mutation_p.L473R|WRAP53_ENST00000534050.1_Missense_Mutation_p.L440R|WRAP53_ENST00000396463.2_Missense_Mutation_p.L473R|WRAP53_ENST00000457584.2_Missense_Mutation_p.L473R			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	473					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CACCCTAGCCTGCCTCTCCTG	0.632000													15	99					0	0	0.557998	0	0
OR4D2	124538	broad.mit.edu	37	17	56247633	56247633	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:56247633T>A	ENST00000545221.1	+	1	617	c.617T>A	c.(616-618)cTg>cAg	p.L206Q		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						AGTGGGCTGCTGGATGTCGTC	0.512000													11	69					0	0	0.411799	0	0
PHLDB3	653583	broad.mit.edu	37	19	44001309	44001309	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:44001309G>C	ENST00000292140.5	-	6	1146	c.786C>G	c.(784-786)ccC>ccG	p.P262P	PHLDB3_ENST00000599242.1_Silent_p.P262P	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	262										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCTGGACCTTGGGGTCTGGCA	0.657000													20	121					0	0	0.706142	0	0
TTN	7273	broad.mit.edu	37	2	179631172	179631172	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179631172G>A	ENST00000589042.1	-	41	9863	c.9639C>T	c.(9637-9639)agC>agT	p.S3213S	TTN_ENST00000342992.6_Silent_p.S3213S|TTN_ENST00000591111.1_Silent_p.S3213S|TTN_ENST00000460472.2_Silent_p.S3167S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.S3213S|TTN_ENST00000342175.6_Silent_p.S3167S|TTN_ENST00000359218.5_Silent_p.S3167S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2946							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)			CTCCTGCATCGCTCTGTCTGG	0.408000													15	100					0	0	0.557998	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760428	19760428	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:19760428G>A	ENST00000357324.6	-	19	2606	c.2580C>T	c.(2578-2580)ctC>ctT	p.L860L	ATP13A1_ENST00000291503.5_Silent_p.L742L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	860					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCCACACATGAGGGTCACGT	0.612000													3	32					0	0	0.150653	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189838	58189838	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:58189838C>T	ENST00000318203.5	+	5	1564	c.867C>T	c.(865-867)caC>caT	p.H289H		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	289					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H289Q(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTTACCCACCAGAGCAATG	0.478000													19	97					0	0	0.557998	0	0
CACNG7	59284	broad.mit.edu	37	19	54445332	54445332	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:54445332G>T	ENST00000391767.1	+	6	825	c.613G>T	c.(613-615)Gcg>Tcg	p.A205S	CACNG7_ENST00000222212.2_Missense_Mutation_p.A205S			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	205				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CAAGCGCTACGCGGAGGAGGA	0.701000													6	27					5.9392e-07	7.42621e-07	0.217242	1	0
GRXCR1	389207	broad.mit.edu	37	4	42964933	42964933	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:42964933G>T	ENST00000399770.2	+	2	409	c.409G>T	c.(409-411)Gac>Tac	p.D137Y		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	137	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TCTAGAATTTGACCGTGTAGT	0.358000													19	174					1.22574e-08	1.63335e-08	0.624587	1	0
NRG3	10718	broad.mit.edu	37	10	84744961	84744961	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:84744961T>A	ENST00000372142.2	+	11	1374	c.1100T>A	c.(1099-1101)gTg>gAg	p.V367E	NRG3_ENST00000404547.1_Missense_Mutation_p.V588E|NRG3_ENST00000545131.1_Missense_Mutation_p.V214E|NRG3_ENST00000404576.2_Missense_Mutation_p.V368E|NRG3_ENST00000372141.2_Missense_Mutation_p.V564E|NRG3_ENST00000537893.1_Missense_Mutation_p.V214E|NRG3_ENST00000556918.1_Missense_Mutation_p.V394E	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	588					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGGACCTGGTGGGCTATTCA	0.448000													35	228					0	0	0.819951	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318815	23318815	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:23318815A>T	ENST00000597761.2	+	3	395	c.196A>T	c.(196-198)Aag>Tag	p.K66*	ZNF730_ENST00000593635.1_Nonsense_Mutation_p.K34*	NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TTGGAATTTGAAGACACATGA	0.363000													9	72					0	0	0.387290	0	0
NRP2	8828	broad.mit.edu	37	2	206610586	206610586	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:206610586G>A	ENST00000360409.3	+	10	2549	c.1758G>A	c.(1756-1758)cgG>cgA	p.R586R	NRP2_ENST00000357785.5_Silent_p.R586R|NRP2_ENST00000540841.1_Silent_p.R586R|NRP2_ENST00000357118.4_Silent_p.R586R|NRP2_ENST00000272849.3_Silent_p.R586R|NRP2_ENST00000412873.2_Silent_p.R586R|NRP2_ENST00000540178.1_Silent_p.R586R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	586	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTGGGATGCGGCTGGAGGTGC	0.597000													23	70					0	0	0.717897	0	0
MED13L	23389	broad.mit.edu	37	12	116420968	116420968	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:116420968C>A	ENST00000281928.3	-	21	5115	c.4909G>T	c.(4909-4911)Gac>Tac	p.D1637Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1637					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGCCCAGGGTCAGTGTCTCCA	0.517000													38	92					2.46787e-29	4.03637e-29	0.870114	1	0
GRID2	2895	broad.mit.edu	37	4	93225877	93225877	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:93225877G>A	ENST00000282020.4	+	1	328	c.70G>A	c.(70-72)Gat>Aat	p.D24N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D24N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	24					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGCGAATGCGGATTCGATCAT	0.507000													14	74					0	0	0.539581	0	0
NGEF	25791	broad.mit.edu	37	2	233759609	233759609	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:233759609G>C	ENST00000264051.3	-	6	1124	c.846C>G	c.(844-846)gtC>gtG	p.V282V	NGEF_ENST00000539537.1_Silent_p.V5V|NGEF_ENST00000409079.1_Silent_p.V190V|NGEF_ENST00000373552.4_Silent_p.V190V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	282	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CCTCGGAAGTGACCAGCTCGA	0.587000													19	131					0	0	0.706142	0	0
COL19A1	1310	broad.mit.edu	37	6	70877916	70877916	+	Splice_Site	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:70877916G>A	ENST00000322773.4	+	38	2547		c.e38-1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCTTTCCTAAGGGTATTCCAT	0.269000													14	60					0	0	0.500413	0	0
CEP63	80254	broad.mit.edu	37	3	134267921	134267921	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:134267921C>T	ENST00000337090.3	+	10	1258	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	CEP63_ENST00000606977.1_Missense_Mutation_p.A362V|CEP63_ENST00000513612.2_Missense_Mutation_p.A362V|CEP63_ENST00000332047.5_Missense_Mutation_p.A316V|CEP63_ENST00000383229.3_Missense_Mutation_p.A362V|CEP63_ENST00000354446.3_Missense_Mutation_p.A316V			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	362					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGTGAGTGCAACGTGTAAA	0.333000													5	48					0	0	0.307466	0	0
CACNA1A	773	broad.mit.edu	37	19	13335575	13335575	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:13335575C>T	ENST00000360228.5	-	38	5636	c.5637G>A	c.(5635-5637)cgG>cgA	p.R1879R	CACNA1A_ENST00000573710.2_Silent_p.R1880R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1880					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGGTCCATCCGCAGAAGCC	0.617000													5	17					0	0	0.248553	0	0
MTO1	25821	broad.mit.edu	37	6	74176132	74176132	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:74176132G>T	ENST00000498286.1	+	2	694		c.e2+1		MTO1_ENST00000370305.1_Splice_Site|MTO1_ENST00000518210.1_Splice_Site|MTO1_ENST00000415954.2_Splice_Site|MTO1_ENST00000370300.4_Splice_Site			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1						tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GAACATGCAGGTAAGAATAGG	0.388000													6	18					0.248553	0.251542	0.248553	1	0
MYCBPAP	84073	broad.mit.edu	37	17	48593971	48593971	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:48593971A>T	ENST00000323776.5	+	2	408	c.246A>T	c.(244-246)acA>acT	p.T82T	MYCBPAP_ENST00000436259.2_Silent_p.T45T	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	45					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCACACCCACAATTCAGGAAG	0.433000													10	46					0	0	0.411799	0	0
NR1I3	9970	broad.mit.edu	37	1	161205757	161205757	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:161205757T>A	ENST00000367983.4	-	3	412	c.118A>T	c.(118-120)Agc>Tgc	p.S40C	NR1I3_ENST00000511748.1_Missense_Mutation_p.S11C|NR1I3_ENST00000367979.2_Missense_Mutation_p.S40C|NR1I3_ENST00000437437.2_Missense_Mutation_p.S11C|NR1I3_ENST00000508740.1_Missense_Mutation_p.S11C|NR1I3_ENST00000508387.1_Missense_Mutation_p.S11C|NR1I3_ENST00000412844.2_Missense_Mutation_p.S11C|NR1I3_ENST00000367985.3_Missense_Mutation_p.S40C|NR1I3_ENST00000506209.1_Missense_Mutation_p.S11C|NR1I3_ENST00000505005.1_Missense_Mutation_p.S40C|NR1I3_ENST00000504010.1_Missense_Mutation_p.S11C|NR1I3_ENST00000502985.1_Missense_Mutation_p.S40C|NR1I3_ENST00000515452.1_Missense_Mutation_p.S40C|NR1I3_ENST00000442691.2_Missense_Mutation_p.S40C|NR1I3_ENST00000367980.2_Missense_Mutation_p.S40C|NR1I3_ENST00000428574.2_Missense_Mutation_p.S40C|NR1I3_ENST00000515621.1_5'UTR|NR1I3_ENST00000367981.3_Missense_Mutation_p.S11C|NR1I3_ENST00000367982.4_Missense_Mutation_p.S40C|NR1I3_ENST00000512372.1_Missense_Mutation_p.S11C|NR1I3_ENST00000367984.4_Missense_Mutation_p.S40C|NR1I3_ENST00000511944.1_Missense_Mutation_p.S40C|NR1I3_ENST00000511676.1_Missense_Mutation_p.S11C			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	40					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATGCTTTTGCTGACTGTTCTC	0.527000													11	49					0	0	0.435327	0	0
EMR1	2015	broad.mit.edu	37	19	6926404	6926404	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:6926404C>T	ENST00000312053.4	+	16	2051	c.2014C>T	c.(2014-2016)Ctg>Ttg	p.L672L	EMR1_ENST00000381404.4_Silent_p.L620L|EMR1_ENST00000381407.5_Silent_p.L531L|EMR1_ENST00000250572.8_Silent_p.L607L|EMR1_ENST00000450315.3_Silent_p.L495L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	672					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CGCGGGCTTCCTGCACTACCT	0.522000													7	46					0	0	0.278610	0	0
OR6K2	81448	broad.mit.edu	37	1	158669635	158669635	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:158669635A>T	ENST00000359610.2	-	1	851	c.808T>A	c.(808-810)Ttc>Atc	p.F270I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATATCCCAGAACAAAGAGTAG	0.428000													5	48					0	0	0.278610	0	0
KRR1	11103	broad.mit.edu	37	12	75900277	75900277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:75900277C>A	ENST00000229214.4	-	4	529	c.506G>T	c.(505-507)gGa>gTa	p.G169V	KRR1_ENST00000438169.2_Missense_Mutation_p.G169V	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	169	KH.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CAATGTAGATCCTTTGGGACC	0.328000													27	44					5.45727e-16	8.29682e-16	0.729181	1	0
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					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)			GCCTGACCCTGACAGCCAAGC	0.572000													3	87					0	0	0.217242	0	0
SVOPL	136306	broad.mit.edu	37	7	138313001	138313001	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:138313001C>G	ENST00000421622.1	-	7	819	c.611G>C	c.(610-612)gGg>gCg	p.G204A	SVOPL_ENST00000436657.1_Missense_Mutation_p.G172A|SVOPL_ENST00000288513.5_Missense_Mutation_p.G172A|SVOPL_ENST00000419765.3_Missense_Mutation_p.G324A			Q8N434	SVOPL_HUMAN	SVOP-like	324						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TGAGTCCCCCCCAGTCACCAC	0.557000													11	97					0	0	0.411799	0	0
OR52N4	390072	broad.mit.edu	37	11	5776243	5776243	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:5776243C>G	ENST00000317254.3	+	1	321	c.273C>G	c.(271-273)ctC>ctG	p.L91L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTTTCATCTCAAGGACATTG	0.468000													15	50					0	0	0.457914	0	0
COL3A1	1281	broad.mit.edu	37	2	189870076	189870076	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:189870076G>T	ENST00000304636.3	+	41	3102	c.2931_splice	c.e41-1	p.G978_splice	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	978	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTGTATACAGGGTGAAAGTGG	0.413000													17	111					9.7654e-05	0.000111274	0.557998	1	0
RIMS4	140730	broad.mit.edu	37	20	43386742	43386742	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:43386742C>A	ENST00000372851.3	-	3	386	c.320G>T	c.(319-321)gGc>gTc	p.G107V	RIMS4_ENST00000541604.2_Missense_Mutation_p.G108V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	107					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGTCTGGCGGCCCACAAACTG	0.592000													12	77					2.31682e-05	2.70967e-05	0.479597	1	0
FIBIN	387758	broad.mit.edu	37	11	27016120	27016120	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:27016120G>T	ENST00000318627.2	+	1	493	c.47G>T	c.(46-48)tGt>tTt	p.C16F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	16						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGCCACCTGTGTCAAGGCTAC	0.537000													10	53					9.70103e-10	1.33607e-09	0.361761	1	0
NOP56	10528	broad.mit.edu	37	20	2636373	2636373	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:2636373C>G	ENST00000329276.5	+	7	1406	c.890C>G	c.(889-891)tCa>tGa	p.S297*		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	297	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCCAGCCTGTCAGCCCTAATT	0.537000													24	145					0	0	0.740014	0	0
KCNK13	56659	broad.mit.edu	37	14	90651221	90651221	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:90651221G>C	ENST00000282146.4	+	2	1542	c.1101G>C	c.(1099-1101)ctG>ctC	p.L367L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	367						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AGAAGCAACTGTCTGAGATGG	0.597000													18	43					0	0	0.575678	0	0
BAI1	575	broad.mit.edu	37	8	143604066	143604066	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:143604066G>C	ENST00000517894.1	+	22	4134	c.3240G>C	c.(3238-3240)atG>atC	p.M1080I	BAI1_ENST00000323289.5_Missense_Mutation_p.M1080I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1080					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCACCATGAACTAGTGAG	0.637000													7	10					0	0	0.335167	0	0
ZNF662	389114	broad.mit.edu	37	3	42950326	42950326	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:42950326G>C	ENST00000541208.1	+	3	445	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000328199.6_Missense_Mutation_p.E86Q|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000422021.1_Missense_Mutation_p.E26Q|ZNF662_ENST00000440367.2_Missense_Mutation_p.E26Q			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCCCAGCTGGAGCGAGGGGA	0.582000													19	178					0	0	0.592651	0	0
ENPP3	5169	broad.mit.edu	37	6	132061429	132061429	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:132061429A>G	ENST00000414305.1	+	25	2694	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	ENPP3_ENST00000357639.3_Missense_Mutation_p.N789S|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	789	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGTTGTAAAAACAAGAGCCAC	0.458000													17	55					0	0	0.575678	0	0
SDS	10993	broad.mit.edu	37	12	113830952	113830952	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:113830952C>T	ENST00000257549.4	-	8	903	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	261					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATCTTCTCATCATCTGCCAGA	0.622000													23	75					0	0	0.667858	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006403	16006403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:16006403G>T	ENST00000221700.5	-	3	351	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	86					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTAAAGCCCTGGGGGTAGGTG	0.557000													48	190					9.52127e-25	1.54525e-24	0.870114	1	0
VPS52	6293	broad.mit.edu	37	6	33237305	33237305	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:33237305G>C	ENST00000445902.2	-	5	552	c.334C>G	c.(334-336)Cta>Gta	p.L112V	VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	112					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGGTTGTGTAGAGATGCTATA	0.458000													10	120					0	0	0.411799	0	0
MPI	4351	broad.mit.edu	37	15	75185540	75185540	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:75185540G>A	ENST00000352410.4	+	5	616	c.549G>A	c.(547-549)atG>atA	p.M183I	MPI_ENST00000563422.1_Missense_Mutation_p.M183I|MPI_ENST00000564003.1_Intron|MPI_ENST00000535694.1_Missense_Mutation_p.M133I|MPI_ENST00000562606.1_Missense_Mutation_p.M163I|MPI_ENST00000565576.1_Missense_Mutation_p.M183I|MPI_ENST00000566377.1_Missense_Mutation_p.M183I|MPI_ENST00000323744.6_Intron|MPI_ENST00000563786.1_Missense_Mutation_p.M163I			P34949	MPI_HUMAN	mannose phosphate isomerase	183					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						AGCAGACCATGAGCCATGACT	0.552000													8	82					0	0	0.307466	0	0
CIR1	9541	broad.mit.edu	37	2	175216419	175216419	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:175216419C>A	ENST00000342016.3	-	8	611	c.519G>T	c.(517-519)gaG>gaT	p.E173D	CIR1_ENST00000362053.5_Missense_Mutation_p.D183Y	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	173					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TGTTTCTCATCTCCGCTATTA	0.423000													22	110					3.73988e-18	5.81721e-18	0.706142	1	0
LRRC30	339291	broad.mit.edu	37	18	7231274	7231274	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:7231274G>C	ENST00000383467.2	+	1	152	c.138G>C	c.(136-138)cgG>cgC	p.R46R		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGCTGAAGCGGGGCATGCACC	0.602000													15	113					0	0	0.557998	0	0
KIF17	57576	broad.mit.edu	37	1	20998491	20998491	+	Missense_Mutation	SNP	C	C	T	rs141985868	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:20998491C>T	ENST00000247986.2	-	12	2972	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	KIF17_ENST00000400463.3_Missense_Mutation_p.E888K|KIF17_ENST00000375044.1_Missense_Mutation_p.E788K|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	888					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.E888K(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCGTTATCTTCGTCCCAGCAG	0.577000													10	64					0	0	0.387290	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558770	140558770	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140558770C>A	ENST00000239444.2	+	1	1400	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		385	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGTTGCTCCATTCAGGAGG	0.453000													9	149					3.09899e-07	3.9215e-07	0.307466	1	0
EXOG	9941	broad.mit.edu	37	3	38565545	38565545	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:38565545G>T	ENST00000287675.5	+	6	895	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Missense_Mutation_p.V217L	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	267						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGAATTCCAAGTGAGCCTCCA	0.507000													13	98					2.32078e-09	3.16522e-09	0.479597	1	0
MYO1H	283446	broad.mit.edu	37	12	109844646	109844646	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:109844646T>C	ENST00000310903.5	+	9	1074	c.968T>C	c.(967-969)aTt>aCt	p.I323T	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Missense_Mutation_p.I323T			B4DNW6	B4DNW6_HUMAN	myosin IH	70						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CACAGAAAAATTGAAGCCAAA	0.507000													24	95					0	0	0.681144	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276493	18276493	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:18276493G>A	ENST00000377369.2	+	7	1455	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	SLC39A12_ENST00000377374.4_Silent_p.E394E|SLC39A12_ENST00000377371.3_Silent_p.E394E|SLC39A12_ENST00000539911.1_Silent_p.E260E	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	394					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATAGCTGTGAGGAGAACTACA	0.547000													14	95					0	0	0.457914	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733210	56733210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:56733210C>A	ENST00000587340.1	-	7	1920	c.1225G>T	c.(1225-1227)Gag>Tag	p.E409*	ZSCAN5A_ENST00000592355.1_Nonsense_Mutation_p.E408*|ZSCAN5A_ENST00000587492.1_Nonsense_Mutation_p.E263*|ZSCAN5A_ENST00000254165.3_Nonsense_Mutation_p.E292*|ZSCAN5A_ENST00000391713.1_Nonsense_Mutation_p.E409*			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	409					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAGGGCCTCTCGCCAGTGTGG	0.522000													9	33					0.0167234	0.0175361	0.435327	1	0
PDE3A	5139	broad.mit.edu	37	12	20803377	20803377	+	Splice_Site	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:20803377A>T	ENST00000359062.3	+	14	2809		c.e14-1		PDE3A_ENST00000544307.1_Splice_Site	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited						lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTCTCAAATAGGTAAATGAT	0.289000													7	56					0	0	0.387290	0	0
SLC41A3	54946	broad.mit.edu	37	3	125735629	125735629	+	Missense_Mutation	SNP	C	C	T	rs139399598	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:125735629C>T	ENST00000383598.2	-	6	1042	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	SLC41A3_ENST00000508835.1_Missense_Mutation_p.V162M|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V279M|SLC41A3_ENST00000346785.5_Missense_Mutation_p.V243M|SLC41A3_ENST00000315891.6_Missense_Mutation_p.V279M	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	279						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGGATCTTCACGATGGGTGGG	0.592000													6	63					0	0	0.217242	0	0
KIF13B	23303	broad.mit.edu	37	8	28981626	28981626	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:28981626C>T	ENST00000524189.1	-	27	3305	c.3267G>A	c.(3265-3267)gaG>gaA	p.E1089E	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1089					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TACGAAGTCTCTCTAAATCTC	0.358000													4	22					0	0	0.184627	0	0
DOCK1	1793	broad.mit.edu	37	10	129152980	129152980	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:129152980G>T	ENST00000280333.6	+	32	3318	c.3209G>T	c.(3208-3210)tGg>tTg	p.W1070L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1070					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGAGACATGTGGTACAACCTT	0.478000													25	143					1.08312e-15	1.63488e-15	0.740014	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766815	77766815	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:77766815G>T	ENST00000521891.2	+	10	8106	c.7658G>T	c.(7657-7659)gGc>gTc	p.G2553V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2508V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2508V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2527V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2508						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)			CAACTGCTGGGCAGTTCCCTC	0.512000										HNSCC(33;0.089)			16	101					7.07596e-05	8.11229e-05	0.539581	1	0
NCKAP5	344148	broad.mit.edu	37	2	133540039	133540039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:133540039C>A	ENST00000409261.1	-	14	4718	c.4345G>T	c.(4345-4347)Gga>Tga	p.G1449*	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.G1449*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1449							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGATGCCTTCCAGAAGTTTCT	0.532000													4	36					0.00909568	0.00960353	0.150653	1	0
RLTPR	146206	broad.mit.edu	37	16	67685586	67685586	+	Splice_Site	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:67685586A>G	ENST00000334583.6	+	25	2755		c.e25-1		RLTPR_ENST00000545661.1_Splice_Site	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing											breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACCTTTGTCTAGGACTTCACT	0.577000													3	17					0	0	0.115264	0	0
DHX32	55760	broad.mit.edu	37	10	127530383	127530383	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:127530383G>A	ENST00000284690.3	-	7	1962	c.1472C>T	c.(1471-1473)tCg>tTg	p.S491L	BCCIP_ENST00000299130.3_3'UTR|BCCIP_ENST00000429863.2_3'UTR|DHX32_ENST00000284688.6_Missense_Mutation_p.S410L|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.S115L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	491						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATAGACTTCGAGAGTTGTGG	0.393000													13	47					0	0	0.500413	0	0
FAM111A	63901	broad.mit.edu	37	11	58920200	58920200	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:58920200C>T	ENST00000528737.1	+	5	3877	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	FAM111A_ENST00000420244.1_Silent_p.L353L|FAM111A_ENST00000361723.3_Silent_p.L353L|FAM111A_ENST00000531147.1_Silent_p.L353L|FAM111A_ENST00000533703.1_Silent_p.L353L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	353					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTGTACGTCTCAGTGACTCAG	0.363000													13	101					0	0	0.479597	0	0
POTEA	340441	broad.mit.edu	37	8	43152603	43152603	+	RNA	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:43152603G>A	ENST00000522175.2	+	0	590							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAAAACAAGGTACAGATCTA	0.338000													3	49					0	0	0.150653	0	0
OR52I1	390037	broad.mit.edu	37	11	4615437	4615437	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:4615437T>A	ENST00000450052.2	+	2	241	c.241T>A	c.(241-243)Tcc>Acc	p.S81T	OR52I1_ENST00000530443.2_Missense_Mutation_p.S57T			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGATGGATTCCACTCGGCA	0.502000													12	75					0	0	0.654019	0	0
GRIA2	2891	broad.mit.edu	37	4	158256827	158256827	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:158256827C>G	ENST00000296526.7	+	10	1596	c.1271C>G	c.(1270-1272)tCt>tGt	p.S424C	GRIA2_ENST00000264426.9_Missense_Mutation_p.S424C|GRIA2_ENST00000393815.2_Missense_Mutation_p.S377C|GRIA2_ENST00000507898.1_Missense_Mutation_p.S377C|GRIA2_ENST00000449365.1_Missense_Mutation_p.S377C	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	424					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)	ATATAGGAATCTCCGTATGTT	0.353000													7	25					0	0	0.335167	0	0
MARVELD2	153562	broad.mit.edu	37	5	68728887	68728887	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:68728887G>A	ENST00000325631.5	+	5	1544	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	MARVELD2_ENST00000413223.2_Missense_Mutation_p.M374I	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	490					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATGCAGTGATGAGCAGATTGC	0.453000													19	109					0	0	0.639603	0	0
MIB2	142678	broad.mit.edu	37	1	1562061	1562061	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:1562061G>A	ENST00000357210.4	+	9	1394	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	MIB2_ENST00000355826.5_Missense_Mutation_p.R436Q|MIB2_ENST00000378710.3_Missense_Mutation_p.R357Q|MIB2_ENST00000505820.2_Missense_Mutation_p.R450Q|MIB2_ENST00000504599.1_Missense_Mutation_p.R349Q|MIB2_ENST00000520777.1_Missense_Mutation_p.R446Q|MIB2_ENST00000518681.1_Missense_Mutation_p.R385Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R299Q|MIB2_ENST00000378712.1_Missense_Mutation_p.R270Q|MIB2_ENST00000360522.4_Intron	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	393					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACGTGGTCCGGGTCATCGGC	0.682000													10	26					0	0	0.435327	0	0
AKNA	80709	broad.mit.edu	37	9	117119236	117119236	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:117119236G>A	ENST00000307564.4	-	13	2914	c.2753C>T	c.(2752-2754)gCg>gTg	p.A918V	AKNA_ENST00000374075.5_Missense_Mutation_p.A837V|AKNA_ENST00000223791.3_Missense_Mutation_p.A378V|AKNA_ENST00000374088.3_Missense_Mutation_p.A918V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	918	PEST.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCTGGGGACGCCATCCAGGT	0.567000													25	89					0	0	0.681144	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183050	102183050	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:102183050C>A	ENST00000306176.1	+	7	864	c.764C>A	c.(763-765)cCa>cAa	p.P255Q	ZPLD1_ENST00000466937.1_Missense_Mutation_p.P239Q|ZPLD1_ENST00000491959.1_Missense_Mutation_p.P239Q	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	239	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TATACTACCCCATCAGGAAAC	0.323000													19	86					2.27525e-19	3.58544e-19	0.667858	1	0
CCSER1	401145	broad.mit.edu	37	4	91549370	91549370	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:91549370G>T	ENST00000509176.1	+	6	2207	c.1919G>T	c.(1918-1920)aGa>aTa	p.R640I	CCSER1_ENST00000432775.2_Missense_Mutation_p.R640I|CCSER1_ENST00000333691.8_Missense_Mutation_p.R640I	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AAGATGAAGAGAGTTCTTCAA	0.433000													5	43					5.9392e-07	7.42621e-07	0.217242	1	0
GJA8	2703	broad.mit.edu	37	1	147380663	147380663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:147380663G>T	ENST00000240986.4	+	2	634	c.581G>T	c.(580-582)tGc>tTc	p.C194F	GJA8_ENST00000369235.1_Missense_Mutation_p.C194F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	194					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GTGGTGGACTGCTTCGTGTCC	0.582000													16	89					0.000566183	0.000629383	0.520397	1	0
SLC22A14	9389	broad.mit.edu	37	3	38347785	38347785	+	Missense_Mutation	SNP	G	G	C	rs147752298	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:38347785G>C	ENST00000273173.4	+	1	359	c.268G>C	c.(268-270)Gtg>Ctg	p.V90L	SLC22A14_ENST00000448498.1_Missense_Mutation_p.V90L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	90						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGACCACTTCGTGTTCACAGC	0.562000													25	68					0	0	0.706142	0	0
ACOXL	55289	broad.mit.edu	37	2	111850516	111850516	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:111850516C>A	ENST00000389811.4	+	18	1829	c.1605C>A	c.(1603-1605)ccC>ccA	p.P535P	ACOXL_ENST00000439055.1_Silent_p.P505P			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	535			P -> L (in dbSNP:rs17041850).		fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ACTTGACTCCCATGGCCAGCA	0.468000													11	96					2.61681e-11	3.70092e-11	0.457914	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131785528	131785528	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:131785528T>C	ENST00000392953.3	+	5	957	c.438T>C	c.(436-438)gaT>gaC	p.D146D	ARHGEF4_ENST00000355771.3_Silent_p.D75D|ARHGEF4_ENST00000525839.1_Silent_p.D146D|ARHGEF4_ENST00000409303.1_Silent_p.D146D|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.D146D	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	146					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCATGCCTGATGGAGCTCTGG	0.627000													3	64					0	0	0.150653	0	0
TEC	7006	broad.mit.edu	37	4	48140730	48140730	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:48140730C>A	ENST00000381501.3	-	17	1921	c.1764G>T	c.(1762-1764)aaG>aaT	p.K588N		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	588	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGACGCCAACTTCGGCTGGT	0.448000													12	59					4.93089e-13	7.16022e-13	0.457914	1	0
NME9	347736	broad.mit.edu	37	3	138023824	138023824	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:138023824G>A	ENST00000383180.2	-	10	736	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	NME9_ENST00000536478.1_Missense_Mutation_p.H167Y|NME9_ENST00000484930.1_Missense_Mutation_p.H165Y|NME9_ENST00000333911.3_Missense_Mutation_p.H228Y|NME9_ENST00000341790.5_Missense_Mutation_p.H165Y|NME9_ENST00000317876.4_Missense_Mutation_p.H167Y	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	228	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ATCAGGAGGTGGCTTGGTCCA	0.607000													40	231					0	0	0.870114	0	0
GPR25	2848	broad.mit.edu	37	1	200842240	200842240	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:200842240G>T	ENST00000304244.2	+	1	158	c.75G>T	c.(73-75)gaG>gaT	p.E25D		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	25						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						ACGGCCTGGAGGAGCTGGAGC	0.721000													6	24					0.000157383	0.000177769	0.278610	1	0
RFX1	5989	broad.mit.edu	37	19	14080948	14080948	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:14080948C>T	ENST00000254325.4	-	10	1588	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	452					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGCAGACTCACGCCCTCAGCC	0.622000													8	104					0	0	0.307466	0	0
CDH9	1007	broad.mit.edu	37	5	26881576	26881576	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:26881576G>C	ENST00000231021.4	-	12	2211	c.2039C>G	c.(2038-2040)cCa>cGa	p.P680R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	680					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTGCCTCTGGATTCCTTAA	0.433000													21	122					0	0	0.654019	0	0
GLYAT	10249	broad.mit.edu	37	11	58480244	58480244	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:58480244A>T	ENST00000344743.3	-	4	446	c.305T>A	c.(304-306)tTa>tAa	p.L102*	GLYAT_ENST00000278400.3_Nonsense_Mutation_p.L102*|GLYAT_ENST00000529732.1_Nonsense_Mutation_p.L102*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	102					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTGAATCTGTAAATGCTGTTT	0.408000													15	82					0	0	0.539581	0	0
SPTAN1	6709	broad.mit.edu	37	9	131360769	131360769	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:131360769G>T	ENST00000358161.5	+	25	3618	c.3505G>T	c.(3505-3507)Gct>Tct	p.A1169S	SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1169S|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Missense_Mutation_p.A1169S			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1169					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGGTGCAGGCTGTGCAACA	0.502000													6	12					0.0215528	0.0224881	0.217242	1	0
MANEA	79694	broad.mit.edu	37	6	96054070	96054070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:96054070G>T	ENST00000358812.4	+	5	1312	c.1178G>T	c.(1177-1179)cGc>cTc	p.R393L		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	393	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CTTCAGACACGCCCCAGCTTA	0.428000													7	58					0.0381472	0.0395331	0.278610	1	0
CD6	923	broad.mit.edu	37	11	60780966	60780966	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:60780966C>A	ENST00000313421.7	+	7	1408	c.1222C>A	c.(1222-1224)Ctg>Atg	p.L408M	CD6_ENST00000344028.5_Missense_Mutation_p.L408M|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000352009.5_Missense_Mutation_p.L408M|CD6_ENST00000452451.2_Missense_Mutation_p.L408M|CD6_ENST00000346437.4_Missense_Mutation_p.L408M	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	408					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CTCCATCGTTCTGGGAATTCT	0.448000													46	236					5.08636e-23	8.20743e-23	0.870114	1	0
C10orf54	64115	broad.mit.edu	37	10	73511472	73511472	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:73511472G>C	ENST00000394957.3	-	6	909	c.851C>G	c.(850-852)aCc>aGc	p.T284S	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	284						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AGACAGGGGGGTGCTGGGCTC	0.617000													12	40					0	0	0.435327	0	0
TFAP2A	7020	broad.mit.edu	37	6	10411817	10411817	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:10411817T>A	ENST00000379608.3	-	1	790	c.13A>T	c.(13-15)Agt>Tgt	p.S5C	TFAP2A_ENST00000482890.1_Intron|TFAP2A_ENST00000379604.2_Intron|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000379613.3_Intron	NM_001032280.2	NP_001027451.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	0					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCTGAAAAACTGTGAACTAAC	0.592000													5	83					0	0	0.248553	0	0
KRT72	140807	broad.mit.edu	37	12	52980764	52980764	+	Splice_Site	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:52980764C>T	ENST00000293745.2	-	8	1396	c.1310_splice	c.e8-1	p.R437_splice	KRT72_ENST00000537672.2_Splice_Site_p.R437_splice|KRT72_ENST00000398066.3_Splice_Site_p.R249_splice|KRT72_ENST00000354310.4_Splice_Site_p.R395_splice	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	437	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CGCCAGACATCCTGAAGAAGG	0.463000													32	57					0	0	0.819951	0	0
ZNF366	167465	broad.mit.edu	37	5	71740095	71740095	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:71740095G>A	ENST00000318442.5	-	5	2213	c.1723C>T	c.(1723-1725)Ctg>Ttg	p.L575L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTCTGTGCCAGGGCGATTCTC	0.602000													13	85					0	0	0.557998	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085066	64085066	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:64085066G>C	ENST00000295902.6	-	8	2781	c.2196C>G	c.(2194-2196)ttC>ttG	p.F732L	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.F788L|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	732						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCTCTCCTGGAAGCTCCGCT	0.622000													9	64					0	0	0.361761	0	0
MGAM	8972	broad.mit.edu	37	7	141754698	141754698	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:141754698G>T	ENST00000475668.2	+	27	3358	c.3304G>T	c.(3304-3306)Ggc>Tgc	p.G1102C	MGAM_ENST00000549489.2_Missense_Mutation_p.G1102C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1102	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAGAGTACAGGCACTATAAT	0.488000													10	45					0.000673444	0.000743217	0.361761	1	0
DLG5	9231	broad.mit.edu	37	10	79590605	79590605	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:79590605T>C	ENST00000372391.2	-	10	1780	c.1775A>G	c.(1774-1776)aAg>aGg	p.K592R	DLG5_ENST00000372388.2_Missense_Mutation_p.K592R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	592					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCGGGCCTCCTTTTCCAACTG	0.577000													3	52					0	0	0.115264	0	0
MAPT	4137	broad.mit.edu	37	17	44049266	44049266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:44049266C>A	ENST00000344290.5	+	3	497	c.175C>A	c.(175-177)Ccg>Acg	p.P59T	MAPT_ENST00000571987.1_Missense_Mutation_p.P59T|MAPT_ENST00000574436.1_Missense_Mutation_p.P59T|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.P59T|MAPT_ENST00000431008.3_Missense_Mutation_p.P59T|MAPT_ENST00000420682.2_Missense_Mutation_p.P59T|MAPT_ENST00000351559.5_Missense_Mutation_p.P59T|MAPT_ENST00000415613.2_Missense_Mutation_p.P59T|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000340799.5_Missense_Mutation_p.P59T|MAPT_ENST00000262410.5_Missense_Mutation_p.P59T	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	59					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				ATCTGAGGAACCGGGCTCTGA	0.612000													13	104					4.7546e-09	6.39137e-09	0.500413	1	0
CACNA1A	773	broad.mit.edu	37	19	13335577	13335577	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:13335577G>T	ENST00000360228.5	-	38	5634	c.5635C>A	c.(5635-5637)Cgg>Agg	p.R1879R	CACNA1A_ENST00000573710.2_Silent_p.R1880R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1880					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGGTCCATCCGCAGAAGCCGC	0.612000													5	16					0.00198382	0.00215265	0.248553	1	0
COL5A2	1290	broad.mit.edu	37	2	189916102	189916102	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:189916102C>T	ENST00000374866.3	-	42	3149	c.2875G>A	c.(2875-2877)Gct>Act	p.A959T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	959					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGGGGCCAGCTGGTCCTCGA	0.622000													19	75					0	0	0.608945	0	0
GABRP	2568	broad.mit.edu	37	5	170236648	170236648	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:170236648C>G	ENST00000518525.1	+	10	1373	c.909C>G	c.(907-909)atC>atG	p.I303M	GABRP_ENST00000265294.4_Missense_Mutation_p.I303M|GABRP_ENST00000519598.1_Missense_Mutation_p.I303M|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	303						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTGCTTCATCAAGGCCATCG	0.507000											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	161					0	0	0.717897	0	0
TTN	7273	broad.mit.edu	37	2	179638426	179638426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179638426C>A	ENST00000589042.1	-	32	7581	c.7357G>T	c.(7357-7359)Gat>Tat	p.D2453Y	TTN_ENST00000342992.6_Missense_Mutation_p.D2453Y|TTN_ENST00000591111.1_Missense_Mutation_p.D2453Y|TTN_ENST00000460472.2_Missense_Mutation_p.D2407Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D2453Y|TTN_ENST00000342175.6_Missense_Mutation_p.D2407Y|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D2407Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2182	Ig-like 14.						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)			ACATTAACATCTTTTAGAGGT	0.378000													9	51					0.00621372	0.00661042	0.335167	1	0
TTC17	55761	broad.mit.edu	37	11	43471696	43471696	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:43471696G>A	ENST00000039989.4	+	20	2865	c.2851G>A	c.(2851-2853)Ggc>Agc	p.G951S		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	951							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTTTGCAATGGCAATCTCCC	0.498000													22	107					0	0	0.654019	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380688	136380688	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:136380688C>T	ENST00000339996.3	-	4	542	c.441G>A	c.(439-441)aaG>aaA	p.K147K	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	147						integral to membrane		p.K147N(1)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						TGTAGACGCTCTTGTCTGGGT	0.597000													10	43					0	0	0.387290	0	0
LILRA2	11027	broad.mit.edu	37	19	55098742	55098742	+	Missense_Mutation	SNP	G	G	A	rs73939008	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55098742G>A	ENST00000251377.3	+	9	1514	c.1381G>A	c.(1381-1383)Gtg>Atg	p.V461M	LILRA2_ENST00000391737.1_Missense_Mutation_p.V432M|LILRA2_ENST00000391738.3_Missense_Mutation_p.V461M|LILRA2_ENST00000251376.3_Missense_Mutation_p.V444M|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTTGGTCCTGGTGGTCCTCGG	0.562000													22	104					0	0	0.608945	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447249	17447249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:17447249G>T	ENST00000541323.1	+	3	773	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	PDGFRL_ENST00000251630.6_Missense_Mutation_p.D110Y|PDGFRL_ENST00000398074.3_Missense_Mutation_p.D110Y	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	110	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TGCGTATCTGGACACCTTTAA	0.438000													7	61					5.18039e-06	6.22757e-06	0.278610	1	0
NPHP1	4867	broad.mit.edu	37	2	110881529	110881529	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:110881529C>G	ENST00000316534.4	-	20	2114	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	NPHP1_ENST00000417665.1_Missense_Mutation_p.E659Q|NPHP1_ENST00000355301.4_Missense_Mutation_p.E562Q|NPHP1_ENST00000393272.3_Missense_Mutation_p.E680Q|NPHP1_ENST00000445609.2_Missense_Mutation_p.E625Q			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	680					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CGTGCAGTCTCAGTCTCTTCT	0.532000													17	88					0	0	0.592651	0	0
BSN	8927	broad.mit.edu	37	3	49700666	49700666	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:49700666C>A	ENST00000296452.4	+	7	11189	c.11075C>A	c.(11074-11076)cCg>cAg	p.P3692Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3692					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGCTATGCCGAAGAAGGGT	0.637000													11	76					1.08611e-07	1.39856e-07	0.387290	1	0
CASP10	843	broad.mit.edu	37	2	202074263	202074263	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:202074263C>G	ENST00000286186.6	+	9	1828	c.1393C>G	c.(1393-1395)Cat>Gat	p.H465D	CASP10_ENST00000346817.5_Missense_Mutation_p.H422D|CASP10_ENST00000272879.5_Missense_Mutation_p.H465D|CASP10_ENST00000448480.1_Missense_Mutation_p.H422D|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.H398D|CASP10_ENST00000492363.1_3'UTR	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	465					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TCTGTGTAATCATCTGAAGAA	0.398000													23	89					0	0	0.729181	0	0
AMER3	205147	broad.mit.edu	37	2	131521159	131521159	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:131521159C>T	ENST00000423981.1	+	2	1624	c.1514C>T	c.(1513-1515)aCc>aTc	p.T505I	AMER3_ENST00000321420.4_Missense_Mutation_p.T505I	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CTCGCCATCACCATGGGCATC	0.682000													5	27					0	0	0.184627	0	0
S1PR1	1901	broad.mit.edu	37	1	101705002	101705002	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:101705002G>A	ENST00000305352.6	+	2	837	c.462G>A	c.(460-462)ggG>ggA	p.G154G	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	154					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCCACAACGGGAGCAATAACT	0.547000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	101					0	0	0.520397	0	0
BSDC1	55108	broad.mit.edu	37	1	32842119	32842119	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:32842119C>G	ENST00000341071.7	-	9	962	c.951G>C	c.(949-951)gtG>gtC	p.V317V	BSDC1_ENST00000419121.2_Silent_p.V244V|BSDC1_ENST00000526031.1_Silent_p.V205V|BSDC1_ENST00000455895.2_Silent_p.V300V|BSDC1_ENST00000449308.1_Silent_p.V300V|BSDC1_ENST00000446293.2_Silent_p.V317V|BSDC1_ENST00000413080.1_Silent_p.V239V			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	300							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCTTGGGTAGCACTCGTGCCT	0.597000													25	142					0	0	0.706142	0	0
PHF8	23133	broad.mit.edu	37	X	54040929	54040929	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:54040929C>G	ENST00000338154.6	-	7	1168	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	PHF8_ENST00000322659.8_Missense_Mutation_p.E222Q|PHF8_ENST00000338946.6_Missense_Mutation_p.E222Q|PHF8_ENST00000357988.5_Missense_Mutation_p.E258Q	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	258					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ACACATTCCTCTGGCCACAAG	0.478000													8	19					0	0	0.335167	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219887	54219887	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:54219887G>T	ENST00000384818.1	+	0	40					NR_030203.1																						ATTTTCTCTTGTCTAAAAGAA	0.428000													35	205					6.29468e-14	9.29294e-14	0.804634	1	0
BHLHE22	27319	broad.mit.edu	37	8	65494151	65494151	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:65494151G>A	ENST00000321870.1	+	1	1338	c.804G>A	c.(802-804)gtG>gtA	p.V268V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	268	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TGCGCGCGGTGATCCCCTACG	0.632000													3	36					0	0	0.150653	0	0
NRXN1	9378	broad.mit.edu	37	2	50758398	50758398	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:50758398C>G	ENST00000404971.1	-	12	3773	c.2434G>C	c.(2434-2436)Gac>Cac	p.D812H	NRXN1_ENST00000405472.3_Missense_Mutation_p.D764H|NRXN1_ENST00000402717.3_Missense_Mutation_p.D764H|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.D772H|NRXN1_ENST00000406316.2_Missense_Mutation_p.D772H|NRXN1_ENST00000401669.2_Missense_Mutation_p.D772H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	772	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTCCTGCGTCTAGCTCCAGG	0.488000													4	37					0	0	0.217242	0	0
FSTL5	56884	broad.mit.edu	37	4	162459327	162459327	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:162459327T>C	ENST00000306100.5	-	10	1739	c.1303A>G	c.(1303-1305)Aga>Gga	p.R435G	FSTL5_ENST00000379164.4_Missense_Mutation_p.R434G|FSTL5_ENST00000427802.2_Missense_Mutation_p.R434G|FSTL5_ENST00000536695.1_Missense_Mutation_p.R434G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	435						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CGGGTCTTTCTAGCAGAGTCT	0.403000													28	200					0	0	0.827153	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135806731	135806731	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:135806731C>G	ENST00000264977.3	+	9	3412	c.2795C>G	c.(2794-2796)tCa>tGa	p.S932*	PPP2R3A_ENST00000490467.1_Nonsense_Mutation_p.S196*|PPP2R3A_ENST00000334546.2_Nonsense_Mutation_p.S311*	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	932					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAGCTTCATCAAGCAGGATT	0.318000													10	48					0	0	0.435327	0	0
CMYA5	202333	broad.mit.edu	37	5	79029480	79029480	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:79029480C>T	ENST00000446378.2	+	2	4923	c.4892C>T	c.(4891-4893)cCg>cTg	p.P1631L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1631						perinuclear region of cytoplasm		p.P1631Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCACACCAACCGTTGGAATTA	0.423000													3	45					0	0	0.150653	0	0
SEMG2	6407	broad.mit.edu	37	20	43850944	43850944	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:43850944T>C	ENST00000372769.3	+	2	761	c.671T>C	c.(670-672)gTt>gCt	p.V224A		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	224	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAAATGTGGTTGACGTGAGA	0.378000													15	101					0	0	0.520397	0	0
CRNKL1	51340	broad.mit.edu	37	20	20032965	20032965	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:20032965C>T	ENST00000377340.2	-	2	536	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	CRNKL1_ENST00000377327.4_Missense_Mutation_p.G157R|CRNKL1_ENST00000536226.1_Missense_Mutation_p.G8R	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	169					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CGCTGCTTCCCGGCCGCGGTG	0.652000													5	39					0	0	0.248553	0	0
ASIC2	40	broad.mit.edu	37	17	31618846	31618846	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:31618846G>T	ENST00000225823.2	-	1	1160	c.288C>A	c.(286-288)tcC>tcA	p.S96S	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	52					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCAAGCCGAAGGATGTACAGA	0.677000													4	29					0.184627	0.187411	0.184627	1	0
ESPNL	339768	broad.mit.edu	37	2	239040064	239040064	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:239040064C>T	ENST00000343063.3	+	9	2972	c.2709C>T	c.(2707-2709)gcC>gcT	p.A903A	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.A859A|ESPNL_ENST00000409506.1_Silent_p.A535A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	903										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)		TCCACAAGGCCGTGACCGACG	0.701000													3	14					0	0	0.150653	0	0
ENPP2	5168	broad.mit.edu	37	8	120638812	120638812	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:120638812C>T	ENST00000427067.2	-	3	453	c.273G>A	c.(271-273)ttG>ttA	p.L91L	ENPP2_ENST00000075322.6_Silent_p.L95L|ENPP2_ENST00000522826.1_Silent_p.L95L|ENPP2_ENST00000259486.6_Silent_p.L95L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	95	SMB 1.				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TACCTGTCTTCAAACACAGCT	0.473000													21	70					0	0	0.608945	0	0
LAMA5	3911	broad.mit.edu	37	20	60885294	60885294	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:60885294G>A	ENST00000252999.3	-	77	10740	c.10674C>T	c.(10672-10674)atC>atT	p.I3558I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3558	Laminin G-like 5.				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)	CCAAGTGGAAGATCAGTCCGG	0.647000													13	93					0	0	0.457914	0	0
PIGG	54872	broad.mit.edu	37	4	499567	499567	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:499567G>T	ENST00000453061.2	+	3	527	c.421G>T	c.(421-423)Gca>Tca	p.A141S	PIGG_ENST00000509768.1_Missense_Mutation_p.A52S|PIGG_ENST00000504346.1_Missense_Mutation_p.A52S|PIGG_ENST00000503111.1_Missense_Mutation_p.A52S|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000296306.7_Missense_Mutation_p.A52S|PIGG_ENST00000310340.5_Missense_Mutation_p.A141S|PIGG_ENST00000536264.1_Missense_Mutation_p.A19S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	141					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAATTCTCCTGCACTGCTGGA	0.438000													10	61					2.68362e-12	3.86359e-12	0.411799	1	0
ZNF331	55422	broad.mit.edu	37	19	54080922	54080922	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:54080922C>T	ENST00000253144.9	+	7	2441	c.1108C>T	c.(1108-1110)Ctc>Ttc	p.L370F	ZNF331_ENST00000513999.1_Missense_Mutation_p.L370F|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000449416.1_Missense_Mutation_p.L370F|ZNF331_ENST00000512387.1_Missense_Mutation_p.L370F|ZNF331_ENST00000411977.2_Missense_Mutation_p.L370F|ZNF331_ENST00000511593.2_Missense_Mutation_p.L370F|ZNF331_ENST00000511154.1_Missense_Mutation_p.L370F	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGCTATCACCTCACTCAGCA	0.512000			T	?	follicular thyroid adenoma								10	56					0	0	0.457914	0	0
ANKS1A	23294	broad.mit.edu	37	6	35048790	35048790	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:35048790A>G	ENST00000360359.3	+	17	2702	c.2564A>G	c.(2563-2565)cAg>cGg	p.Q855R	ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	855						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGCTCTCCCAGACGTCATCC	0.592000													12	178					0	0	0.500413	0	0
CEP290	80184	broad.mit.edu	37	12	88505082	88505082	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:88505082C>G	ENST00000552810.1	-	22	2607	c.2264G>C	c.(2263-2265)gGa>gCa	p.G755A	CEP290_ENST00000309041.7_Missense_Mutation_p.G757A|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	755					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AACATTTGATCCTTCTGATTG	0.328000													2	11					0	0	0.150653	0	0
BCAS1	8537	broad.mit.edu	37	20	52583538	52583538	+	Silent	SNP	G	G	A	rs113552289	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:52583538G>A	ENST00000395961.3	-	9	1423	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	BCAS1_ENST00000371440.3_Silent_p.N450N|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	419						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)			CATCTCCTTCGTTGAGGTCCA	0.443000													44	184					0	0	0.870114	0	0
BCOR	54880	broad.mit.edu	37	X	39932117	39932117	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:39932117C>T	ENST00000342274.4	-	4	2844	c.2482G>A	c.(2482-2484)Gca>Aca	p.A828T	BCOR_ENST00000397354.3_Missense_Mutation_p.A828T|BCOR_ENST00000378444.4_Missense_Mutation_p.A828T|BCOR_ENST00000378455.4_Missense_Mutation_p.A828T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	828					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.A828T(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACACTCTCTGCTGCAAAGCTG	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						8	18					0	0	0.307466	0	0
ACER1	125981	broad.mit.edu	37	19	6307166	6307166	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:6307166G>C	ENST00000301452.4	-	5	701	c.624C>G	c.(622-624)atC>atG	p.I208M		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	208						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GTGCTTACCAGATGCTGTGCA	0.547000													17	62					0	0	0.539581	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711133	140711133	+	Silent	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140711133A>G	ENST00000517417.1	+	1	882	c.882A>G	c.(880-882)ttA>ttG	p.L294L	PCDHGA1_ENST00000378105.3_Silent_p.L294L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTTCGTTTAGATTCTTACA	0.428000													11	47					0	0	0.435327	0	0
TMEM52	339456	broad.mit.edu	37	1	1849480	1849480	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:1849480G>A	ENST00000378602.3	-	2	666	c.426C>T	c.(424-426)taC>taT	p.Y142Y	TMEM52_ENST00000310991.3_Silent_p.Y157Y			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	157						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGCTTCATCGTAGGAGGGTG	0.637000													9	157					0	0	0.361761	0	0
SOS1	6654	broad.mit.edu	37	2	39250368	39250368	+	Splice_Site	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:39250368T>A	ENST00000426016.1	-	11	1289		c.e11-2		SOS1_ENST00000428721.2_Splice_Site|SOS1_ENST00000402219.2_Splice_Site|SOS1_ENST00000395038.2_Splice_Site|SOS1_ENST00000472480.1_Splice_Site			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)						apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GCAGATTCACTGGAATAAAGA	0.363000									Noonan syndrome				9	29					0	0	0.335167	0	0
A2ML1	144568	broad.mit.edu	37	12	9010663	9010663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:9010663G>T	ENST00000299698.7	+	26	3409	c.3229G>T	c.(3229-3231)Gcc>Tcc	p.A1077S	A2ML1_ENST00000539547.1_Missense_Mutation_p.A586S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	921						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGCTGCTATGCCAACGTGGG	0.537000													10	39					0.000673444	0.000743217	0.361761	1	0
USP24	23358	broad.mit.edu	37	1	55591033	55591033	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:55591033C>A	ENST00000294383.6	-	34	3919	c.3920G>T	c.(3919-3921)aGg>aTg	p.R1307M	USP24_ENST00000407756.1_Missense_Mutation_p.R1147M	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1307					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTCCTCAACCCTAATAGAAGA	0.443000													9	129					1.12685e-05	1.33556e-05	0.307466	1	0
OR10A7	121364	broad.mit.edu	37	12	55615501	55615501	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:55615501C>A	ENST00000326258.1	+	1	693	c.693C>A	c.(691-693)gcC>gcA	p.A231A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGTCCTCTGCCACTGGCCGCC	0.483000													7	43					0.0381472	0.0395331	0.278610	1	0
ROS1	6098	broad.mit.edu	37	6	117715480	117715480	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:117715480C>G	ENST00000368508.3	-	10	1207	c.1009G>C	c.(1009-1011)Gtt>Ctt	p.V337L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V346L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	337					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGAAATAAACAATTTGCTGG	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								11	47					0	0	0.435327	0	0
C1orf101	257044	broad.mit.edu	37	1	244756870	244756870	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:244756870G>C	ENST00000366534.4	+	17	2347	c.2293G>C	c.(2293-2295)Gtg>Ctg	p.V765L	C1orf101_ENST00000366533.4_Missense_Mutation_p.V765L|C1orf101_ENST00000366531.3_Missense_Mutation_p.V614L|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	765						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTTTCAACCTGTGGTTCAACT	0.338000													8	52					0	0	0.307466	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533119	166533119	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:166533119G>T	ENST00000314499.7	+	6	1081		c.e6+1		CSRNP3_ENST00000409420.1_Splice_Site|CSRNP3_ENST00000342316.4_Splice_Site	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3						apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAAGTGCCAGGTAAGGGTTGG	0.537000													3	43					0.150653	0.153573	0.150653	1	0
EPHA5	2044	broad.mit.edu	37	4	66231661	66231661	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:66231661A>T	ENST00000273854.3	-	11	2639	c.2039T>A	c.(2038-2040)gTt>gAt	p.V680D	EPHA5_ENST00000354839.4_Missense_Mutation_p.V658D|EPHA5_ENST00000432638.2_Missense_Mutation_p.V517D|EPHA5_ENST00000511294.1_Missense_Mutation_p.V681D	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	680	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCTCCAATAACTCTCTCAAT	0.373000										TSP Lung(17;0.13)			24	127					0	0	0.740014	0	0
PSME4	23198	broad.mit.edu	37	2	54120079	54120079	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:54120079C>T	ENST00000404125.1	-	36	4112	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	PSME4_ENST00000421748.2_Missense_Mutation_p.D497N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAGGCATCATCAAAATTCCTG	0.358000													6	45					0	0	0.278610	0	0
ALG12	79087	broad.mit.edu	37	22	50301555	50301555	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:50301555G>T	ENST00000330817.5	-	7	1079	c.806C>A	c.(805-807)cCc>cAc	p.P269H		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	269					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCCGCGGGGCAGGGCTGA	0.667000													12	75					7.07596e-05	8.11229e-05	0.539581	1	0
UBE2NL	389898	broad.mit.edu	37	X	142967421	142967421	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:142967421G>A	ENST00000370494.1	+	1	249	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	73							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TACGTTTCATGACCAAAATTT	0.423000													17	54					0	0	0.520397	0	0
RGL3	57139	broad.mit.edu	37	19	11516004	11516004	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:11516004C>T	ENST00000380456.3	-	8	1158	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	RGL3_ENST00000393423.3_Silent_p.V365V	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	365	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTCACCGGCTCACTGCCCCCC	0.652000													3	14					0	0	0.115264	0	0
HIPK3	10114	broad.mit.edu	37	11	33374746	33374746	+	Missense_Mutation	SNP	C	C	G	rs141714879		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:33374746C>G	ENST00000303296.4	+	17	3585	c.3280C>G	c.(3280-3282)Cat>Gat	p.H1094D	HIPK3_ENST00000379016.3_Missense_Mutation_p.H1073D|HIPK3_ENST00000456517.1_Missense_Mutation_p.H1073D|HIPK3_ENST00000525975.1_Missense_Mutation_p.H1073D	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1094					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.H1094Y(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CACTCTTTCTCATGGAAGTCC	0.483000													27	77					0	0	0.740014	0	0
PRODH2	58510	broad.mit.edu	37	19	36290957	36290957	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:36290957G>T	ENST00000301175.3	-	11	1611	c.1594C>A	c.(1594-1596)Cga>Aga	p.R532R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	532					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTATCCTTCGGCATCCTGGC	0.632000													4	19					0.00198382	0.00215265	0.248553	1	0
UAP1	6675	broad.mit.edu	37	1	162551172	162551172	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:162551172G>C	ENST00000271469.3	+	5	1059	c.757G>C	c.(757-759)Gac>Cac	p.D253H	UAP1_ENST00000367925.1_Missense_Mutation_p.D253H|UAP1_ENST00000367926.4_Missense_Mutation_p.D253H|UAP1_ENST00000367924.1_Missense_Mutation_p.D253H			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	253					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTATTGTGTTGACAACATATT	0.443000													28	167					0	0	0.740014	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487874	73487874	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:73487874C>T	ENST00000314256.7	+	14	1883	c.1489C>T	c.(1489-1491)Ccc>Tcc	p.P497S	KIAA0195_ENST00000375248.5_Missense_Mutation_p.P507S|KIAA0195_ENST00000579208.1_Missense_Mutation_p.P148S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	497					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCAAGCCCCCCGAGCCCTA	0.627000													19	51					0	0	0.592651	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155217	38155217	+	Missense_Mutation	SNP	G	G	T	rs117821814	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:38155217G>T	ENST00000406386.3	+	17	6525	c.6270G>T	c.(6268-6270)caG>caT	p.Q2090H	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.Q377H|TRIOBP_ENST00000407319.2_Missense_Mutation_p.Q377H	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2090					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGGCTCCTCAGAGTGCACTGA	0.642000													3	32					0.115264	0.118286	0.115264	1	0
MYH7	4625	broad.mit.edu	37	14	23893131	23893131	+	Missense_Mutation	SNP	G	G	T	rs142573531	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:23893131G>T	ENST00000355349.3	-	23	3069	c.2907C>A	c.(2905-2907)caC>caA	p.H969Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	969					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCTGTTGCGTGTTTCTCCT	0.552000													14	56					1.3612e-06	1.67709e-06	0.479597	1	0
CCND1	595	broad.mit.edu	37	11	69458749	69458749	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:69458749C>T	ENST00000227507.2	+	3	791	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	188				L -> S (in Ref. 3; AAA52136).	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TCGTTGCCCTCTGTGCCACAG	0.617000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			9	43					0	0	0.435327	0	0
CDH12	1010	broad.mit.edu	37	5	21802308	21802308	+	Silent	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:21802308A>G	ENST00000382254.1	-	10	2310	c.1224T>C	c.(1222-1224)gcT>gcC	p.A408A	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.A408A|CDH12_ENST00000522262.1_Silent_p.A368A	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	408	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCAGGTCTTGAGCAGTGACAG	0.453000										HNSCC(59;0.17)			8	45					0	0	0.361761	0	0
TBC1D8	11138	broad.mit.edu	37	2	101646017	101646017	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:101646017C>G	ENST00000409318.1	-	12	2288	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q	TBC1D8_ENST00000376840.4_Missense_Mutation_p.E705Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	705					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCATTGGCCTCAAGCACAGCC	0.562000													11	37					0	0	0.361761	0	0
CD34	947	broad.mit.edu	37	1	208073292	208073292	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:208073292G>T	ENST00000356522.4	-	2	457	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000310833.7_Missense_Mutation_p.Q46K	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	46					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						AATGTTCCCTGGGTAGGTAAC	0.448000													7	69					2.0095e-06	2.45071e-06	0.248553	1	0
SPATA8	145946	broad.mit.edu	37	15	97326891	97326891	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:97326891C>A	ENST00000328504.3	+	1	273	c.6C>A	c.(4-6)gcC>gcA	p.A2A	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	2										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GAGGAATGGCCCCGGCTGGGA	0.572000													15	94					2.70639e-06	3.28871e-06	0.624587	1	0
B3GNT2	10678	broad.mit.edu	37	2	62449632	62449632	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:62449632C>T	ENST00000301998.4	+	2	529	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	B3GNT2_ENST00000405767.1_Silent_p.L93L	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	93						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.L93L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TATAAGCCATCTGAACTACTG	0.532000													115	611					0	0	0.870114	0	0
ASIC3	9311	broad.mit.edu	37	7	150749672	150749672	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:150749672C>A	ENST00000349064.5	+	11	1727	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	ASIC3_ENST00000297512.8_Missense_Mutation_p.L517I|ASIC3_ENST00000357922.4_Silent_p.P490P	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	510					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTCCCACCCCTCCCTGTGCC	0.642000													19	87					4.96729e-08	6.5058e-08	0.575678	1	0
SARM1	23098	broad.mit.edu	37	17	26712194	26712194	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:26712194G>A	ENST00000457710.3	+	5	1899	c.1428G>A	c.(1426-1428)ctG>ctA	p.L476L	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	510	SAM 1.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCTGCGGCCTGGACCGCTCCC	0.692000													3	19					0	0	0.115264	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691769	106691769	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:106691769G>T	ENST00000390607.2	-	0	333																											TGGTGAATCGGCCCTTCACTG	0.522000													84	262					9.01214e-43	1.49286e-42	0.870114	1	0
PSMC4	5704	broad.mit.edu	37	19	40478344	40478344	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:40478344G>A	ENST00000157812.2	+	3	402	c.204G>A	c.(202-204)ctG>ctA	p.L68L	PSMC4_ENST00000455878.2_Intron	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	68					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAAGAACCTGAAAAAGGAAT	0.522000													9	51					0	0	0.307466	0	0
PCDH15	65217	broad.mit.edu	37	10	55626423	55626423	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:55626423C>A	ENST00000373965.2	-	28	4111	c.3717G>T	c.(3715-3717)ctG>ctT	p.L1239L	PCDH15_ENST00000395445.1_Silent_p.L1239L|PCDH15_ENST00000414778.1_Silent_p.L1237L|PCDH15_ENST00000395433.1_Silent_p.L1210L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.L1232L|PCDH15_ENST00000395432.2_Silent_p.L1195L|PCDH15_ENST00000409834.1_Silent_p.L843L|PCDH15_ENST00000320301.6_Silent_p.L1232L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L1232L|PCDH15_ENST00000361849.3_Silent_p.L1232L|PCDH15_ENST00000437009.1_Silent_p.L1161L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1232	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTTGCCGCTCAGTCCCTTCC	0.408000										HNSCC(58;0.16)			11	39					1.5842e-08	2.10601e-08	0.435327	1	0
SCN3B	55800	broad.mit.edu	37	11	123509019	123509019	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:123509019G>A	ENST00000392770.2	-	4	1261	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SCN3B_ENST00000299333.3_Silent_p.F153F|SCN3B_ENST00000530277.1_Silent_p.F153F	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	153	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CCACAGAGGTGAAGTCCTCTC	0.423000													9	66					0	0	0.387290	0	0
RAMP2	10266	broad.mit.edu	37	17	40914480	40914480	+	Splice_Site	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:40914480A>G	ENST00000589683.1	+	3	412	c.47_splice	c.e3+1	p.R16_splice	RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000587142.1_Splice_Site_p.R96_splice|RAMP2_ENST00000253796.5_Splice_Site_p.R91_splice			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	91					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CATGATTAGCAGGTAGGGGCA	0.532000													10	55					0	0	0.361761	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790196	133790196	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:133790196T>C	ENST00000321016.8	-	18	3654	c.3424A>G	c.(3424-3426)Atg>Gtg	p.M1142V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.M1142V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1142	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTATGCCCATGCCTTGGCTT	0.687000													8	73					0	0	0.278610	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494378	25494378	+	RNA	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:25494378G>A	ENST00000365503.1	+	0	34					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						TTGTCCTGAAGAGAGGTGATG	0.512000													67	385					0	0	0.870114	0	0
OR51M1	390059	broad.mit.edu	37	11	5410710	5410710	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:5410710A>G	ENST00000328611.3	+	1	104	c.82A>G	c.(82-84)Agc>Ggc	p.S28G	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	28						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATCTCACCAGCTTTCCTGG	0.418000													22	99					0	0	0.624587	0	0
DMD	1756	broad.mit.edu	37	X	32328262	32328262	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:32328262G>T	ENST00000357033.4	-	42	6260	c.6054C>A	c.(6052-6054)ctC>ctA	p.L2018L	DMD_ENST00000378677.2_Silent_p.L2014L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2018					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGGAGCATTGAGAAGTTGTT	0.393000													10	35					0.000978159	0.00107597	0.387290	1	0
NUP133	55746	broad.mit.edu	37	1	229625782	229625782	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:229625782G>A	ENST00000261396.3	-	9	1205	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	NUP133_ENST00000537506.1_Silent_p.L356L|NUP133_ENST00000366679.1_Silent_p.L372L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	372					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ATTGTTATCAGAGAGTAATAG	0.373000													10	56					0	0	0.411799	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077622	32077622	+	RNA	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:32077622G>A	ENST00000354689.6	+	0	237				RP11-1166P10.6_ENST00000566806.1_RNA																							AGAACTCACTGTATCTGCAAA	0.498000													45	828					0	0	0.853193	0	0
ATP10D	57205	broad.mit.edu	37	4	47570898	47570898	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:47570898G>T	ENST00000273859.3	+	16	3167	c.2898G>T	c.(2896-2898)caG>caT	p.Q966H		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	966					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGAACTTCAGAAGAAAACTC	0.498000													5	79					2.7689e-08	3.66356e-08	0.248553	1	0
GNB3	2784	broad.mit.edu	37	12	6952582	6952582	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:6952582C>T	ENST00000229264.3	+	7	728	c.323C>T	c.(322-324)tCa>tTa	p.S108L	GNB3_ENST00000435982.2_Missense_Mutation_p.S108L	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	108					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TATGCCCCATCAGGGAACTTT	0.587000													28	140					0	0	0.693898	0	0
VWA5A	4013	broad.mit.edu	37	11	124007760	124007760	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:124007760A>C	ENST00000456829.2	+	15	1915	c.1664A>C	c.(1663-1665)cAg>cCg	p.Q555P	VWA5A_ENST00000392748.1_Missense_Mutation_p.Q555P|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	555										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCCTTGCTCCAGACCAAGGAC	0.453000													19	80					0	0	0.654019	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910823	101910823	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:101910823G>A	ENST00000537097.1	+	6	2795	c.1982G>A	c.(1981-1983)aGa>aAa	p.R661K	GPRASP1_ENST00000415986.1_Missense_Mutation_p.R661K|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R661K|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R661K	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	661	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTGGTGTCAGATGCAGATTT	0.488000													20	66					0	0	0.575678	0	0
VAX1	11023	broad.mit.edu	37	10	118896029	118896029	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:118896029C>A	ENST00000277905.2	-	2	627	c.383G>T	c.(382-384)cGc>cTc	p.R128L	VAX1_ENST00000369206.5_Missense_Mutation_p.R128L	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	128						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GGTCCTCTCGCGGCCCACCAC	0.667000													13	43					6.81908e-15	1.02104e-14	0.457914	1	0
ZNF285	26974	broad.mit.edu	37	19	44891245	44891245	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:44891245G>A	ENST00000330997.4	-	4	1226	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	ZNF285_ENST00000544719.2_Missense_Mutation_p.L388F|ZNF285_ENST00000591679.1_Missense_Mutation_p.L395F|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGATGGACAAGAAGGTTGGAG	0.463000													5	84					0	0	0.307466	0	0
HRNR	388697	broad.mit.edu	37	1	152192787	152192787	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:152192787C>A	ENST00000368801.2	-	3	1393	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	440					keratinization		calcium ion binding|protein binding	p.G440C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGGCCGGAGCTGGGA	0.612000													21	111					8.10497e-08	1.05496e-07	0.592651	1	0
KIF19	124602	broad.mit.edu	37	17	72348396	72348396	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:72348396T>C	ENST00000389916.4	+	14	2035	c.1897T>C	c.(1897-1899)Tac>Cac	p.Y633H		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	633					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAAGAGCTCTACGAAGTGTA	0.697000													5	42					0	0	0.248553	0	0
KIF1A	547	broad.mit.edu	37	2	241682379	241682379	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:241682379G>T	ENST00000498729.2	-	34	3853	c.3607C>A	c.(3607-3609)Cac>Aac	p.H1203N	KIF1A_ENST00000320389.7_Missense_Mutation_p.H1102N	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1102					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGAGGGAAGTGGCGGCGCGAG	0.647000													3	22					0.00909568	0.00960353	0.150653	1	0
SPRTN	83932	broad.mit.edu	37	1	231475546	231475546	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:231475546G>A	ENST00000391858.4	+	2	1533	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	SPRTN_ENST00000008440.9_Missense_Mutation_p.G85S|SPRTN_ENST00000295050.7_Missense_Mutation_p.G85S					SprT-like N-terminal domain																		TGAAGGGAAGGGTGGAATGTG	0.443000													30	145					0	0	0.827153	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799136	57799136	+	Missense_Mutation	SNP	C	C	A	rs140088794		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:57799136C>A	ENST00000302622.3	+	1	735	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				AGCTGCTGAGCGCTGGAAGGC	0.547000													16	63					2.5808e-16	3.94503e-16	0.539581	1	0
TTI1	9675	broad.mit.edu	37	20	36634758	36634758	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:36634758C>G	ENST00000373448.2	-	4	2582	c.2344G>C	c.(2344-2346)Gag>Cag	p.E782Q	TTI1_ENST00000449821.1_Missense_Mutation_p.E782Q|TTI1_ENST00000373447.3_Missense_Mutation_p.E782Q	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	782							binding	p.E782*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAACTTTGCTCTTGGAGGTGC	0.443000													10	75					0	0	0.361761	0	0
TRIM23	373	broad.mit.edu	37	5	64907502	64907502	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:64907502C>G	ENST00000231524.9	-	4	944	c.573G>C	c.(571-573)ttG>ttC	p.L191F	TRIM23_ENST00000381018.3_Missense_Mutation_p.L191F|TRIM23_ENST00000274327.7_Missense_Mutation_p.L191F	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	191					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AACCTTCTTCCAAGCAAACAA	0.423000													30	119					0	0	0.760397	0	0
MEGF8	1954	broad.mit.edu	37	19	42866259	42866259	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:42866259C>T	ENST00000334370.4	+	32	6172	c.5537C>T	c.(5536-5538)tCc>tTc	p.S1846F	MEGF8_ENST00000251268.6_Missense_Mutation_p.S1913F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1913						integral to membrane	calcium ion binding|structural molecule activity	p.S1454F(1)|p.S1846F(1)|p.S1913F(1)		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)				TGCGGGGGCTCCCCCTGCTCC	0.662000													7	21					0	0	0.278610	0	0
KCNQ4	9132	broad.mit.edu	37	1	41284227	41284227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:41284227G>T	ENST00000347132.5	+	4	665	c.583G>T	c.(583-585)Ggc>Tgc	p.G195C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.G195C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	195					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGGTACCCAGGGCAACATCTT	0.701000													5	53					3.59834e-05	4.17943e-05	0.217242	1	0
SMARCC1	6599	broad.mit.edu	37	3	47677588	47677588	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:47677588A>T	ENST00000254480.5	-	23	2534	c.2415T>A	c.(2413-2415)gaT>gaA	p.D805E	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	805	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTTGTGCTTTATCACCTTCAT	0.363000													9	46					0	0	0.361761	0	0
PPFIA1	8500	broad.mit.edu	37	11	70202354	70202354	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:70202354A>T	ENST00000253925.7	+	19	2791	c.2576A>T	c.(2575-2577)cAa>cTa	p.Q859L	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.Q859L	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	859					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGTAAACTTCAAAAAAAGTAA	0.388000													20	109					0	0	0.575678	0	0
PDCD2L	84306	broad.mit.edu	37	19	34895852	34895852	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:34895852C>T	ENST00000246535.3	+	3	340	c.293C>T	c.(292-294)tCc>tTc	p.S98F	PDCD2L_ENST00000587065.2_5'UTR|RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.S93F	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	98						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTGTTCCGCTCCCAGTGCCTG	0.592000													9	57					0	0	0.411799	0	0
SUPT6H	6830	broad.mit.edu	37	17	27020740	27020740	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:27020740G>T	ENST00000314616.6	+	28	3943	c.3660G>T	c.(3658-3660)tcG>tcT	p.S1220S	SUPT6H_ENST00000347486.4_Silent_p.S1220S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1220	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACAGCGGTTCGTGCCCAGGCC	0.517000													11	93					4.7546e-09	6.39137e-09	0.500413	1	0
SLC39A12	221074	broad.mit.edu	37	10	18276494	18276494	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:18276494G>A	ENST00000377369.2	+	7	1456	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	SLC39A12_ENST00000377374.4_Missense_Mutation_p.E395K|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E395K|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E261K	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	395					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TAGCTGTGAGGAGAACTACAG	0.547000													14	96					0	0	0.457914	0	0
MEIS3	56917	broad.mit.edu	37	19	47918039	47918039	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:47918039G>T	ENST00000331559.5	-	6	922	c.481C>A	c.(481-483)Cgg>Agg	p.R161R	MEIS3_ENST00000558555.1_Silent_p.R178R|MEIS3_ENST00000561096.1_Silent_p.R266R|MEIS3_ENST00000559524.1_Silent_p.R178R|MEIS3_ENST00000561293.1_Silent_p.R178R|MEIS3_ENST00000441740.2_Silent_p.R161R	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCGCCGTCCCGATCCTCGATG	0.667000													14	62					8.60227e-14	1.26553e-13	0.500413	1	0
KRCC1	51315	broad.mit.edu	37	2	88327916	88327916	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:88327916T>C	ENST00000347055.3	-	4	560	c.167A>G	c.(166-168)tAt>tGt	p.Y56C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	56										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAACATTCTATACGTGGGTCT	0.443000													11	50					0	0	0.435327	0	0
KIAA0020	9933	broad.mit.edu	37	9	2810374	2810374	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:2810374C>T	ENST00000397885.2	-	16	1899	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	565						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ATCTTTTTATCTTGCTCTATT	0.368000													13	59					0	0	0.411799	0	0
NID1	4811	broad.mit.edu	37	1	236205579	236205579	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:236205579C>A	ENST00000264187.6	-	4	848	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W	NID1_ENST00000366595.3_Missense_Mutation_p.G256W	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	256	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G256R(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCCTGCTGCCCAGAGTTACTA	0.572000													53	355					1.88225e-35	3.10267e-35	0.870114	1	0
HEPH	9843	broad.mit.edu	37	X	65392223	65392223	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:65392223A>T	ENST00000519389.1	+	3	535	c.356A>T	c.(355-357)gAc>gTc	p.D119V	HEPH_ENST00000343002.2_Missense_Mutation_p.D65V|HEPH_ENST00000441993.2_Missense_Mutation_p.D68V|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Missense_Mutation_p.D68V|HEPH_ENST00000374727.3_Missense_Mutation_p.D68V			Q9BQS7	HEPH_HUMAN	hephaestin	65	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTAAAGTCTGACAAGAACCGG	0.463000													12	18					0	0	0.435327	0	0
SEMA5A	9037	broad.mit.edu	37	5	9190544	9190544	+	Nonsense_Mutation	SNP	C	C	A	rs138777488		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:9190544C>A	ENST00000382496.5	-	11	1773	c.1108G>T	c.(1108-1110)Gag>Tag	p.E370*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	370	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGATTTCTCTCGGTCAGGTTC	0.572000													9	44					4.68919e-08	6.15113e-08	0.361761	1	0
B3GAT1	27087	broad.mit.edu	37	11	134253950	134253950	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:134253950G>A	ENST00000524765.1	-	3	4789	c.245C>T	c.(244-246)aCg>aTg	p.T82M	B3GAT1_ENST00000312527.4_Missense_Mutation_p.T82M|B3GAT1_ENST00000537389.1_Missense_Mutation_p.T95M|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.T82M			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	82					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGTGGGCAGCGTGTCGGACCA	0.697000													4	38					0	0	0.278610	0	0
FRG1	2483	broad.mit.edu	37	4	190876238	190876238	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:190876238G>A	ENST00000226798.4	+	5	586	c.364G>A	c.(364-366)Gat>Aat	p.D122N	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	122					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TATAAATTCAGATGGACTTGT	0.338000													11	145					0	0	0.479597	0	0
DTNA	1837	broad.mit.edu	37	18	32431845	32431845	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:32431845G>A	ENST00000283365.9	+	14	1584	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	DTNA_ENST00000591182.1_Silent_p.A116A|DTNA_ENST00000601125.1_Silent_p.A90A|DTNA_ENST00000598334.1_Silent_p.A408A|DTNA_ENST00000597599.1_Silent_p.A408A|DTNA_ENST00000596745.1_Silent_p.A218A|DTNA_ENST00000399113.3_Silent_p.A468A|DTNA_ENST00000399097.3_Silent_p.A116A|DTNA_ENST00000595022.1_Silent_p.A408A|DTNA_ENST00000269190.7_Silent_p.A469A|DTNA_ENST00000269191.6_Silent_p.A468A|DTNA_ENST00000599844.1_Silent_p.A90A|DTNA_ENST00000597674.1_Silent_p.A90A|DTNA_ENST00000598142.1_Silent_p.A411A|DTNA_ENST00000269192.7_Silent_p.A177A|DTNA_ENST00000348997.5_Silent_p.A465A|DTNA_ENST00000556414.3_Silent_p.A120A|DTNA_ENST00000598774.1_Silent_p.A411A|DTNA_ENST00000399121.5_Silent_p.A408A|DTNA_ENST00000444659.1_Silent_p.A468A	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	468	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCATCGATGCGAATAAGCAGC	0.418000													3	64					0	0	0.184627	0	0
ZNF619	285267	broad.mit.edu	37	3	40529088	40529088	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:40529088C>G	ENST00000447116.2	+	6	1514	c.1207C>G	c.(1207-1209)Cag>Gag	p.Q403E	ZNF619_ENST00000521353.1_Missense_Mutation_p.Q403E|ZNF619_ENST00000456778.1_Missense_Mutation_p.Q319E|ZNF619_ENST00000432264.2_Missense_Mutation_p.Q363E|ZNF619_ENST00000429348.2_Missense_Mutation_p.Q363E|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.Q354E|ZNF619_ENST00000314686.5_Missense_Mutation_p.Q347E	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	403					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GATTCAGCATCAGAGAATCCA	0.463000													17	68					0	0	0.557998	0	0
MYO18B	84700	broad.mit.edu	37	22	26164102	26164102	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:26164102C>A	ENST00000335473.7	+	4	469	c.219C>A	c.(217-219)agC>agA	p.S73R	MYO18B_ENST00000536101.1_Missense_Mutation_p.S73R|MYO18B_ENST00000407587.2_Missense_Mutation_p.S73R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	73	Ser-rich.					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						TTTCCATCAGCCAACCCAACA	0.517000													12	212					4.36969e-10	6.05283e-10	0.435327	1	0
HYDIN	54768	broad.mit.edu	37	16	70896128	70896128	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:70896128C>A	ENST00000393567.2	-	69	11750	c.11600G>T	c.(11599-11601)gGc>gTc	p.G3867V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3867										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGCATCGTGCCCTGACTAAG	0.582000													9	41					3.07112e-06	3.71848e-06	0.387290	1	0
ADAD1	132612	broad.mit.edu	37	4	123329186	123329186	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:123329186G>T	ENST00000296513.2	+	8	1033	c.848_splice	c.e8+1	p.R283_splice	ADAD1_ENST00000388724.2_Splice_Site_p.S283_splice|ADAD1_ENST00000388725.2_Splice_Site_p.R265_splice	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	283	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTCTTCTTAGGTAAGACAAT	0.343000													9	43					1.58986e-06	1.95167e-06	0.361761	1	0
STPG2	285555	broad.mit.edu	37	4	98633899	98633899	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:98633899T>A	ENST00000295268.3	-	10	1360	c.1271A>T	c.(1270-1272)aAg>aTg	p.K424M	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TTCAAAGCGCTTTGATGCTTT	0.373000													24	73					0	0	0.706142	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526089	176526089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:176526089G>T	ENST00000367662.3	+	2	1795	c.631G>T	c.(631-633)Gga>Tga	p.G211*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.G211*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	211					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G211R(1)		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						AGATGGGCAGGGAGACTCCGG	0.562000													16	121					1.3612e-06	1.67709e-06	0.479597	1	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100275	27100275	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:27100275G>A	ENST00000607124.1	-	1	254	c.255C>T	c.(253-255)aaC>aaT	p.N85N	HIST1H2BJ_ENST00000339812.2_Silent_p.N85N|HIST1H2BJ_ENST00000541790.1_Silent_p.N85N			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	85					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						TCGAGCGCTTGTTGTAATGCG	0.607000													12	166					0	0	0.435327	0	0
COPS4	51138	broad.mit.edu	37	4	83978104	83978104	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:83978104G>A	ENST00000509093.1	+	5	1214	c.436G>A	c.(436-438)Gag>Aag	p.E146K	COPS4_ENST00000503682.1_Missense_Mutation_p.E146K|COPS4_ENST00000264389.2_Missense_Mutation_p.E146K|COPS4_ENST00000511653.1_Missense_Mutation_p.E146K	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	146					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TTATAAACTGGAGACTTACTT	0.353000													12	102					0	0	0.520397	0	0
CAMK4	814	broad.mit.edu	37	5	110819923	110819923	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:110819923T>A	ENST00000282356.4	+	11	1579	c.1181T>A	c.(1180-1182)cTg>cAg	p.L394Q	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.L394Q	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	394					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)		CAGGCTGAGCTGATGAAGGTG	0.507000													8	66					0	0	0.307466	0	0
CEP85	64793	broad.mit.edu	37	1	26603783	26603783	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:26603783G>A	ENST00000252992.4	+	14	2419	c.2288G>A	c.(2287-2289)tGa>tAa	p.*763*	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Silent_p.*712*	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	0						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GTCACACAGTGAGGAATTCTG	0.532000													13	92					0	0	0.435327	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144163	11144163	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:11144163G>C	ENST00000358026.2	+	26	4028	c.3744G>C	c.(3742-3744)caG>caC	p.Q1248H	SMARCA4_ENST00000344626.4_Missense_Mutation_p.Q1248H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Q1248H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.Q1248H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Q1248H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.Q1248H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Q1248H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Q1248H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Q1248H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1248					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTTCCTGCAGGCCATCCTGG	0.622000			"""F, N, Mis"""		NSCLC								29	114					0	0	0.750413	0	0
BDP1	55814	broad.mit.edu	37	5	70785288	70785288	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:70785288G>C	ENST00000358731.4	+	10	1534	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	424	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGAGTTCTAGAATTTCAGAC	0.373000													7	40					0	0	0.307466	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	158					0	0	0.217242	0	0
GORASP2	26003	broad.mit.edu	37	2	171818217	171818217	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:171818217C>T	ENST00000234160.4	+	8	1683	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F	GORASP2_ENST00000452526.2_Missense_Mutation_p.L302F|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	290	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AAACCAGTCCCTCACTTCTGT	0.393000													22	117					0	0	0.667858	0	0
FOXI1	2299	broad.mit.edu	37	5	169533078	169533078	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:169533078G>A	ENST00000449804.2	+	1	162	c.117G>A	c.(115-117)caG>caA	p.Q39Q	FOXI1_ENST00000306268.6_Silent_p.Q39Q	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	39	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCACCCACAGGGCGTGCCCA	0.692000									Pendred syndrome				4	42					0	0	0.184627	0	0
TAB1	10454	broad.mit.edu	37	22	39815594	39815594	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:39815594T>C	ENST00000216160.6	+	7	797	c.735T>C	c.(733-735)gaT>gaC	p.D245D	TAB1_ENST00000331454.3_Silent_p.D245D	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	245	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGATCGGGGATTACAAGGTTA	0.552000													17	141					0	0	0.539581	0	0
SOGA2	23255	broad.mit.edu	37	18	8819028	8819028	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:8819028G>C	ENST00000359865.3	+	13	3069	c.2927G>C	c.(2926-2928)cGc>cCc	p.R976P	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000517570.1_Missense_Mutation_p.R935P|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1295P|SOGA2_ENST00000400050.3_Missense_Mutation_p.R935P	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1286																	GGCAACGTTCGCCCCTTTCCC	0.532000													18	100					0	0	0.557998	0	0
TRGV8	6982	broad.mit.edu	37	7	38370130	38370130	+	RNA	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:38370130G>A	ENST00000390343.2	-	0	281																											TCCCCTCCTGGTGTAGGTACC	0.483000													29	92					0	0	0.769981	0	0
RECQL4	9401	broad.mit.edu	37	8	145742846	145742846	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:145742846G>A	ENST00000428558.2	-	3	206	c.165C>T	c.(163-165)gcC>gcT	p.A55A	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	55					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCCGCCGCCGGCCTGGCCCG	0.751000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	15					0	0	0.411799	0	0
PLCB4	5332	broad.mit.edu	37	20	9457387	9457387	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:9457387G>T	ENST00000378501.2	+	35	3498	c.3483G>T	c.(3481-3483)gtG>gtT	p.V1161V	PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.V1161V|PLCB4_ENST00000378493.1_Intron	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	494					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTCATGCAGTGTCCCAAACGC	0.378000													11	56					0.00010058	0.000114376	0.411799	1	0
ABHD1	84696	broad.mit.edu	37	2	27352686	27352686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:27352686C>A	ENST00000316470.4	+	6	796	c.682C>A	c.(682-684)Ctg>Atg	p.L228M		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	228						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCACTGACTCTGTCTGCATG	0.567000													18	81					5.03518e-11	7.11521e-11	0.557998	1	0
ESF1	51575	broad.mit.edu	37	20	13695816	13695816	+	Splice_Site	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:13695816T>A	ENST00000202816.1	-	14	2370		c.e14-2			NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AACATTTACCTGCAAATCCaa	0.338000													8	49					0	0	0.278610	0	0
CSH1	1442	broad.mit.edu	37	17	61972772	61972772	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:61972772C>G	ENST00000329882.8	-	4	587	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CAGTATTTCTCTCCCCCAGCC	0.552000									Russell-Silver syndrome				16	158					0	0	0.557998	0	0
BPIFC	254240	broad.mit.edu	37	22	32843309	32843309	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:32843309A>T	ENST00000397452.1	-	4	374	c.264T>A	c.(262-264)ttT>ttA	p.F88L	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.F88L|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	88						extracellular region	lipopolysaccharide binding|phospholipid binding										TTGGAAATGAAAAGGCACTGA	0.458000													11	42					0	0	0.411799	0	0
CD163L1	283316	broad.mit.edu	37	12	7531738	7531738	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:7531738G>T	ENST00000313599.3	-	9	2264	c.2207C>A	c.(2206-2208)gCa>gAa	p.A736E	CD163L1_ENST00000416109.2_Missense_Mutation_p.A746E|CD163L1_ENST00000396630.1_Missense_Mutation_p.A736E|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	736	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACCCTGATTGCAGACCCACA	0.488000													19	95					1.50039e-11	2.12914e-11	0.608945	1	0
DPY19L4	286148	broad.mit.edu	37	8	95773926	95773926	+	Splice_Site	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:95773926A>T	ENST00000414645.2	+	8	834		c.e8-1			NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)							integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGTTTTCCCTAGAGGTTTTGC	0.343000													5	27					0	0	0.184627	0	0
BPIFC	254240	broad.mit.edu	37	22	32828437	32828437	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:32828437G>T	ENST00000397452.1	-	11	1182	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	BPIFC_ENST00000534972.1_Missense_Mutation_p.L82M|BPIFC_ENST00000300399.3_Missense_Mutation_p.L358M|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	358						extracellular region	lipopolysaccharide binding|phospholipid binding										GGGATGTCCAGGGTGAAATTG	0.512000													20	95					2.00529e-23	3.23887e-23	0.654019	1	0
POSTN	10631	broad.mit.edu	37	13	38162117	38162117	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:38162117G>T	ENST00000379747.4	-	5	565	c.448C>A	c.(448-450)Cgt>Agt	p.R150S	POSTN_ENST00000541179.1_Missense_Mutation_p.R150S|POSTN_ENST00000379742.4_Missense_Mutation_p.R150S|POSTN_ENST00000541481.1_Missense_Mutation_p.R150S|POSTN_ENST00000379743.4_Missense_Mutation_p.R150S|POSTN_ENST00000379749.4_Missense_Mutation_p.R150S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	150	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AAACCTCTACGGATATCCTAG	0.333000													17	62					2.48551e-13	3.63432e-13	0.520397	1	0
CSF2RB	1439	broad.mit.edu	37	22	37326763	37326763	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:37326763C>A	ENST00000262825.5	+	8	1138	c.921C>A	c.(919-921)caC>caA	p.H307Q	CSF2RB_ENST00000536485.1_Missense_Mutation_p.H248Q|CSF2RB_ENST00000403662.3_Missense_Mutation_p.H301Q|CSF2RB_ENST00000406230.1_Missense_Mutation_p.H307Q	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	301					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCAGCCTCCACACCAGGCACC	0.642000													7	81					0.0692343	0.0713979	0.361761	1	0
PDE3A	5139	broad.mit.edu	37	12	20803378	20803378	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:20803378G>T	ENST00000359062.3	+	14	2809		c.e14-1		PDE3A_ENST00000544307.1_Splice_Site	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited						lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTCTCAAATAGGTAAATGATG	0.284000													7	58					0.0931896	0.0959254	0.411799	1	0
NNAT	4826	broad.mit.edu	37	20	36149769	36149769	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:36149769C>T	ENST00000062104.2	+	1	153	c.36C>T	c.(34-36)ctC>ctT	p.L12L	BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000467603.1_Intron|NNAT_ENST00000346199.2_Silent_p.L12L|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000414542.2_5'UTR	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	12					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				CTGAACTGCTCATCATCGGCT	0.617000													47	296					0	0	0.870114	0	0
MROH8	140699	broad.mit.edu	37	20	35731232	35731232	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:35731232C>G	ENST00000400441.3	-	24	2986	c.2987G>C	c.(2986-2988)aGa>aCa	p.R996T	MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.R825T|MROH8_ENST00000441008.2_3'UTR					maestro heat-like repeat family member 8																		CAGCAGGTCTCTCAGATCTAG	0.507000													33	172					0	0	0.834066	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296440	145296440	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:145296440G>T	ENST00000342960.5	+	3	397	c.362G>T	c.(361-363)cGc>cTc	p.R121L	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	121								p.R121H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCCTCCCGCTCATTGTAT	0.562000													66	588					7.577e-32	1.24532e-31	0.870114	1	0
IGHV3-48	28424	broad.mit.edu	37	14	106994037	106994037	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:106994037G>T	ENST00000390624.2	-	0	206																											GAATCCAGAGGCTGCACAGGA	0.562000													15	113					9.39395e-14	1.37958e-13	0.706142	1	0
KY	339855	broad.mit.edu	37	3	134322799	134322799	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:134322799C>G	ENST00000508956.1	-	10	1602	c.1545G>C	c.(1543-1545)aaG>aaC	p.K515N	KY_ENST00000423778.2_Missense_Mutation_p.K536N|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	536						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGACAAAGATCTTGAGGGCAA	0.527000													8	79					0	0	0.307466	0	0
CBLN1	869	broad.mit.edu	37	16	49315180	49315180	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:49315180G>T	ENST00000219197.6	-	1	562	c.197C>A	c.(196-198)gCc>gAc	p.A66D	CBLN1_ENST00000536749.1_Missense_Mutation_p.A66D	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	66	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GCTCCTGATGGCAGAGAAAGC	0.612000													9	92					0.010729	0.011321	0.387290	1	0
NAV3	89795	broad.mit.edu	37	12	78362433	78362433	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:78362433C>A	ENST00000397909.2	+	5	795	c.622C>A	c.(622-624)Cct>Act	p.P208T	NAV3_ENST00000228327.6_Missense_Mutation_p.P208T|NAV3_ENST00000266692.7_Missense_Mutation_p.P208T|NAV3_ENST00000536525.2_Missense_Mutation_p.P208T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	208						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCACGCTTCCCCTCCATCGGA	0.463000										HNSCC(70;0.22)			22	46					3.73988e-18	5.81721e-18	0.706142	1	0
ABCA6	23460	broad.mit.edu	37	17	67079363	67079363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:67079363C>A	ENST00000284425.2	-	35	4639	c.4465G>T	c.(4465-4467)Gga>Tga	p.G1489*	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1489	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			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)					CTAAGCCTTCCAGACACCATG	0.537000													8	70					0.00621372	0.00661042	0.335167	1	0
MRM1	79922	broad.mit.edu	37	17	34964726	34964726	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:34964726G>A	ENST00000250156.7	+	5	1176	c.937G>A	c.(937-939)Gag>Aag	p.E313K	MRM1_ENST00000585770.1_Missense_Mutation_p.E118K	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	313					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTTCCCCACAGAGGGGGAGAG	0.562000													26	216					0	0	0.706142	0	0
KSR2	283455	broad.mit.edu	37	12	117922265	117922265	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:117922265C>G	ENST00000425217.1	-	16	2373	c.2319G>C	c.(2317-2319)acG>acC	p.T773T	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.T802T	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	802	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCAAAGTCCGTGATGACCA	0.547000													11	29					0	0	0.387290	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179045244	179045244	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:179045244C>G	ENST00000356731.5	-	5	2152	c.617G>C	c.(616-618)cGg>cCg	p.R206P	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.R206P|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.R206P|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.R206P|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.R206P			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	206					regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						AGGACCTGGCCGCTGCATGGC	0.478000													31	178					0	0	0.788014	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688754	111688754	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:111688754C>A	ENST00000431670.2	+	16	3944	c.3533C>A	c.(3532-3534)gCa>gAa	p.A1178E	PHLDB2_ENST00000412622.1_Missense_Mutation_p.A1135E|PHLDB2_ENST00000495180.1_Missense_Mutation_p.A669E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A1162E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.A1178E|PHLDB2_ENST00000481953.1_Missense_Mutation_p.A1135E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1178	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCTTATTATGCAGGTGGGTGA	0.373000													17	76					8.34094e-07	1.03524e-06	0.575678	1	0
PCLO	27445	broad.mit.edu	37	7	82581518	82581518	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:82581518T>A	ENST00000423517.2	-	5	9088	c.8751A>T	c.(8749-8751)tcA>tcT	p.S2917S	PCLO_ENST00000333891.8_Silent_p.S2917S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2848					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						TCATCACACTTGAAGTAGACT	0.423000													29	135					0	0	0.729181	0	0
TNIP1	10318	broad.mit.edu	37	5	150444522	150444522	+	Splice_Site	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:150444522T>C	ENST00000389378.2	-	2	723	c.136_splice	c.e2+1	p.L45_splice	TNIP1_ENST00000523338.1_Splice_Site_p.L45_splice|TNIP1_ENST00000522226.1_Splice_Site_p.L45_splice|TNIP1_ENST00000523200.1_Splice_Site_p.L45_splice|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000315050.7_Splice_Site_p.L45_splice|TNIP1_ENST00000521591.1_Splice_Site_p.L45_splice|TNIP1_ENST00000518977.1_Splice_Site_p.L45_splice|TNIP1_ENST00000524280.1_Splice_Site_p.L45_splice	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	45					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCTTTACCTAACATCTTTA	0.567000													10	107					0	0	0.435327	0	0
ANKIB1	54467	broad.mit.edu	37	7	92017135	92017135	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:92017135T>C	ENST00000265742.3	+	13	2152	c.1776T>C	c.(1774-1776)ttT>ttC	p.F592F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	592							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAAACGATTTCAGGAACTTG	0.313000													5	16					0	0	0.217242	0	0
TTLL7	79739	broad.mit.edu	37	1	84412907	84412907	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:84412907C>G	ENST00000260505.8	-	6	783	c.406G>C	c.(406-408)Gct>Cct	p.A136P	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	136	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTATATTCAGCAGGAAAGATC	0.348000													11	56					0	0	0.387290	0	0
GPR83	10888	broad.mit.edu	37	11	94134353	94134353	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:94134353C>T	ENST00000243673.2	-	1	232	c.61G>A	c.(61-63)Gag>Aag	p.E21K	GPR83_ENST00000539203.2_Missense_Mutation_p.E21K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	21						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCCGGCCCTCGTGGGGCTCG	0.672000													6	48					0	0	0.278610	0	0
PCDH15	65217	broad.mit.edu	37	10	55582426	55582426	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:55582426G>T	ENST00000361849.3	-	34	5460	c.5066C>A	c.(5065-5067)cCt>cAt	p.P1689H	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1664H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1684H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1647H|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1687H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1618H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1687					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGACATTAGGTTCTGATTT	0.423000										HNSCC(58;0.16)			9	66					0.335167	0.338791	0.335167	1	0
KBTBD3	143879	broad.mit.edu	37	11	105929753	105929753	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:105929753C>A	ENST00000526793.1	-	2	231	c.72G>T	c.(70-72)aaG>aaT	p.K24N	KBTBD3_ENST00000531482.2_Missense_Mutation_p.K24N|KBTBD3_ENST00000531837.1_Missense_Mutation_p.K24N|KBTBD3_ENST00000534815.1_Intron	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	20										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AGTTGTTTTTCTTCTCAGATG	0.289000													6	30					5.9392e-07	7.42621e-07	0.217242	1	0
MISP	126353	broad.mit.edu	37	19	763507	763507	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:763507G>A	ENST00000215582.6	+	5	2060	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GCAGGTCCTGGAAGCCATACG	0.582000													5	33					0	0	0.278610	0	0
HEATR1	55127	broad.mit.edu	37	1	236766623	236766623	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:236766623C>A	ENST00000366582.3	-	3	310	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	HEATR1_ENST00000366581.2_Nonsense_Mutation_p.E66*|HEATR1_ENST00000366579.1_Nonsense_Mutation_p.E66*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	66					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACGGTGCTTCAAACTGCTCA	0.383000													11	66					3.07112e-06	3.71848e-06	0.387290	1	0
NTM	50863	broad.mit.edu	37	11	132177639	132177639	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:132177639C>A	ENST00000374786.1	+	4	1062	c.583C>A	c.(583-585)Cag>Aag	p.Q195K	NTM_ENST00000374791.3_Missense_Mutation_p.Q195K|NTM_ENST00000425719.2_Missense_Mutation_p.Q195K|NTM_ENST00000427481.2_Missense_Mutation_p.Q186K|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.Q195K|NTM_ENST00000374784.1_Missense_Mutation_p.Q195K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	195	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CACCAGGGAGCAGTCAGGGGA	0.532000													7	58					1.12685e-05	1.33556e-05	0.307466	1	0
RYR2	6262	broad.mit.edu	37	1	237948162	237948162	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:237948162C>A	ENST00000366574.2	+	90	13467	c.13150C>A	c.(13150-13152)Ctg>Atg	p.L4384M	RYR2_ENST00000360064.6_Missense_Mutation_p.L4390M|RYR2_ENST00000542537.1_Missense_Mutation_p.L4368M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4384					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGCCTGGATCTGAAGAGAGA	0.537000													5	30					0.000602214	0.000667233	0.184627	1	0
FBN2	2201	broad.mit.edu	37	5	127685646	127685646	+	Splice_Site	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:127685646C>T	ENST00000508053.1	-	28	3838		c.e28+1		FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATACACTCACCTTCACACGT	0.338000													3	49					0	0	0.150653	0	0
EIF2B3	8891	broad.mit.edu	37	1	45407278	45407278	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:45407278C>A	ENST00000360403.2	-	4	480	c.354G>T	c.(352-354)gtG>gtT	p.V118V	EIF2B3_ENST00000372183.3_Silent_p.V118V|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	118					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TAAACAGGTCCACAACCTCAT	0.423000													10	105					2.17888e-05	2.55188e-05	0.335167	1	0
TULP4	56995	broad.mit.edu	37	6	158924444	158924444	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:158924444G>A	ENST00000367097.3	+	13	5106	c.3749G>A	c.(3748-3750)tGc>tAc	p.C1250Y	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1250					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCAGCACGTGCTCTAGTTTA	0.617000													32	133					0	0	0.834066	0	0
RSG1	79363	broad.mit.edu	37	1	16559419	16559419	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:16559419G>A	ENST00000375599.3	-	3	778	c.359C>T	c.(358-360)tCt>tTt	p.S120F		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	120	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TTTGAGTGCAGACTCTCCACA	0.557000													29	140					0	0	0.740014	0	0
FAM129A	116496	broad.mit.edu	37	1	184801015	184801015	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:184801015C>T	ENST00000367511.3	-	6	876	c.683G>A	c.(682-684)gGt>gAt	p.G228D	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	228					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCCCAGGAACCATAGTGACC	0.423000													16	84					0	0	0.608945	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326667	89326667	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:89326667G>T	ENST00000483158.1	-	0	392																											ATCACTGTGGGAGGCCAGTTG	0.483000													21	120					4.72057e-08	6.18748e-08	0.667858	1	0
FAM47B	170062	broad.mit.edu	37	X	34961596	34961596	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:34961596C>A	ENST00000329357.5	+	1	684	c.648C>A	c.(646-648)ccC>ccA	p.P216P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	216	Pro-rich.							p.P216P(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAGAGCCTCCCAAGACTCGGG	0.672000													22	66					1.66031e-10	2.31124e-10	0.667858	1	0
ATP13A5	344905	broad.mit.edu	37	3	193042769	193042769	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:193042769C>G	ENST00000342358.4	-	14	1675	c.1558G>C	c.(1558-1560)Gct>Cct	p.A520P		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	520					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CATGGCACAGCCTGGCCTGAG	0.502000													23	105					0	0	0.654019	0	0
IRX1	79192	broad.mit.edu	37	5	3599702	3599702	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:3599702C>G	ENST00000302006.3	+	2	692	c.640C>G	c.(640-642)Ccg>Gcg	p.P214A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGAGGGCGACCCGGAGAAGGC	0.627000													5	30					0	0	0.217242	0	0
RTP1	132112	broad.mit.edu	37	3	186915363	186915363	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:186915363C>T	ENST00000312295.4	+	1	90	c.60C>T	c.(58-60)tcC>tcT	p.S20S	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	20					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCTCACTCTCCGTGTTCTCAC	0.522000													14	127					0	0	0.479597	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995384	140995384	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:140995384C>A	ENST00000285879.4	+	4	2480	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	732							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCTCCTCAGGGGGAGGA	0.542000										HNSCC(15;0.026)			40	105					2.59497e-14	3.86148e-14	0.834066	1	0
CLCNKB	1188	broad.mit.edu	37	1	16380262	16380262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:16380262G>T	ENST00000375679.4	+	16	1862	c.1751G>T	c.(1750-1752)aGc>aTc	p.S584I	CLCNKB_ENST00000375667.3_Missense_Mutation_p.S415I	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTGGAGAGCACAGGTGCC	0.602000													6	66					0.000151284	0.000171456	0.435327	1	0
ABCC12	94160	broad.mit.edu	37	16	48149406	48149406	+	Missense_Mutation	SNP	C	C	A	rs147110729		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:48149406C>A	ENST00000311303.3	-	13	2254	c.1909G>T	c.(1909-1911)Gtg>Ttg	p.V637L	ABCC12_ENST00000448542.1_Missense_Mutation_p.V637L|ABCC12_ENST00000416054.1_Silent_p.T612T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	637	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGCTTCCCCACGTGGGCGTCC	0.622000													40	126					6.21074e-16	9.42532e-16	0.859065	1	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGGATGGGCCTCCGGTTCA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	48					6.40141e-05	7.35398e-05	0.387290	1	0
TBX19	9095	broad.mit.edu	37	1	168260635	168260635	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:168260635G>T	ENST00000367821.3	+	2	492	c.441G>T	c.(439-441)ctG>ctT	p.L147L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	147					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AAGTGAAGCTGACCAACAAGC	0.587000													42	202					1.38658e-30	2.27669e-30	0.870114	1	0
IQSEC1	9922	broad.mit.edu	37	3	12977436	12977436	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:12977436C>A	ENST00000273221.4	-	3	1338	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	374					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGATGCTCCACCCGCAGCC	0.662000													4	36					0.150653	0.153573	0.150653	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76532486	76532486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:76532486G>T	ENST00000307431.8	+	16	2642	c.2257G>T	c.(2257-2259)Gct>Tct	p.A753S	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A705S|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A757S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A681S|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	754	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGATTGCTTGCTTATAAAGA	0.398000													10	35					1.58986e-06	1.95167e-06	0.361761	1	0
SPTB	6710	broad.mit.edu	37	14	65234526	65234526	+	Missense_Mutation	SNP	A	A	C	rs121918649		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:65234526A>C	ENST00000389722.3	-	29	6127	c.6074T>G	c.(6073-6075)cTg>cGg	p.L2025R	SPTB_ENST00000389721.5_Missense_Mutation_p.L2025R|SPTB_ENST00000542895.1_Missense_Mutation_p.L2025R|SPTB_ENST00000389720.3_Missense_Mutation_p.L2025R|SPTB_ENST00000556626.1_Missense_Mutation_p.L2025R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2025			L -> R (in EL3; Buffalo).		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)		CTGGGCAATCAGCCACGCCTC	0.612000													5	88					0	0	0.248553	0	0
YTHDC1	91746	broad.mit.edu	37	4	69179974	69179974	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:69179974C>A	ENST00000344157.4	-	17	2362	c.2027G>T	c.(2026-2028)aGt>aTt	p.S676I	YTHDC1_ENST00000355665.3_Missense_Mutation_p.S658I|YTHDC1_ENST00000579690.1_Missense_Mutation_p.S684I	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	676	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACGGGGTCTACTTCTCCGGCC	0.478000													5	28					2.0095e-06	2.45071e-06	0.248553	1	0
PSG3	5671	broad.mit.edu	37	19	43237000	43237000	+	Nonsense_Mutation	SNP	A	A	T	rs144458808	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:43237000A>T	ENST00000327495.5	-	3	829	c.645T>A	c.(643-645)taT>taA	p.Y215*	PSG3_ENST00000595140.1_Nonsense_Mutation_p.Y215*	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	215	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTTCACATTCATAGGGTCCTG	0.507000													86	535					0	0	0.870114	0	0
BORA	79866	broad.mit.edu	37	13	73320851	73320851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:73320851G>T	ENST00000390667.5	+	10	1181	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	BORA_ENST00000377815.3_Nonsense_Mutation_p.E292*	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	362					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										AGGTGAAGATGAGGAAGATAA	0.438000													41	118					1.62957e-23	2.63455e-23	0.840704	1	0
LRRC37B	114659	broad.mit.edu	37	17	30374882	30374882	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:30374882C>T	ENST00000327564.7	+	9	2487	c.2426C>T	c.(2425-2427)cCc>cTc	p.P809L	LRRC37B_ENST00000341671.7_Missense_Mutation_p.P782L|LRRC37B_ENST00000394713.3_Missense_Mutation_p.P731L|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P700L|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P743L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	782						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCGGAGGCGCCCTCAGACAGC	0.512000													64	279					0	0	0.870114	0	0
LANCL2	55915	broad.mit.edu	37	7	55467774	55467774	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:55467774G>A	ENST00000254770.2	+	4	1233	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	219					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.V219M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCCAGGCACCGTGTGTGAGTC	0.458000													989	112					0	0	0.870114	0	0
TLL1	7092	broad.mit.edu	37	4	166964483	166964483	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:166964483C>G	ENST00000061240.2	+	12	2083	c.1436C>G	c.(1435-1437)cCt>cGt	p.P479R	TLL1_ENST00000507499.1_Missense_Mutation_p.P479R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	479	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCCAATTATCCTGATGACTAT	0.418000													27	158					0	0	0.788014	0	0
PDPN	10630	broad.mit.edu	37	1	13910505	13910505	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:13910505G>C	ENST00000294489.6	+	1	546	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	PDPN_ENST00000376057.4_Missense_Mutation_p.E69Q			Q86YL7	PDPN_HUMAN	podoplanin	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CGGCCCCCAGGAGAGCAACAA	0.622000													11	45					0	0	0.387290	0	0
AMPH	273	broad.mit.edu	37	7	38431610	38431610	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:38431610G>A	ENST00000356264.2	-	19	1832	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	AMPH_ENST00000325590.5_Silent_p.V497V|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.V497V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	539					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCGAAGGAATGACCTTCTCCT	0.567000													14	61					0	0	0.520397	0	0
LAMA2	3908	broad.mit.edu	37	6	129468188	129468188	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:129468188A>T	ENST00000421865.2	+	6	953	c.904A>T	c.(904-906)Aca>Tca	p.T302S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	302	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGATCCAGCGACAAATGTATG	0.428000													14	123					0	0	0.557998	0	0
PRKACB	5567	broad.mit.edu	37	1	84700917	84700917	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:84700917G>C	ENST00000370689.2	+	10	1249	c.985G>C	c.(985-987)Gat>Cat	p.D329H	PRKACB_ENST00000370685.3_Missense_Mutation_p.D376H|PRKACB_ENST00000370682.3_Missense_Mutation_p.D333H|PRKACB_ENST00000394838.2_Missense_Mutation_p.D336H|PRKACB_ENST00000394839.2_Missense_Mutation_p.D299H	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	329	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CAGCAACTTTGATGACTATGA	0.343000													9	46					0	0	0.361761	0	0
CREBBP	1387	broad.mit.edu	37	16	3779424	3779424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:3779424C>A	ENST00000262367.5	-	31	6433	c.5624G>T	c.(5623-5625)cGc>cTc	p.R1875L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1837L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1875	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGCACGTTGCGGGTGTTCAT	0.667000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						22	67					3.10358e-05	3.62731e-05	0.624587	1	0
KBTBD4	55709	broad.mit.edu	37	11	47599071	47599071	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:47599071C>G	ENST00000533290.1	-	1	1270	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.E177Q|KBTBD4_ENST00000525720.1_Missense_Mutation_p.E210Q|KBTBD4_ENST00000526005.1_Missense_Mutation_p.E161Q|KBTBD4_ENST00000395288.2_Missense_Mutation_p.E161Q			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	161	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GTATAGAGCTCAGGATCACTG	0.542000													41	179					0	0	0.834066	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37170577	37170577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:37170577C>A	ENST00000421307.1	-	4	576	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	LRRFIP2_ENST00000440230.1_Nonsense_Mutation_p.E52*|LRRFIP2_ENST00000396428.2_Nonsense_Mutation_p.E52*|LRRFIP2_ENST00000354379.4_Nonsense_Mutation_p.E52*|LRRFIP2_ENST00000421276.2_Nonsense_Mutation_p.E52*|LRRFIP2_ENST00000336686.4_Nonsense_Mutation_p.E52*	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	52	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTTCCAGTTCTCTCATGCGT	0.413000													12	109					3.27435e-08	4.30863e-08	0.457914	1	0
COL15A1	1306	broad.mit.edu	37	9	101825334	101825334	+	Silent	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:101825334A>G	ENST00000375001.3	+	39	4017	c.3594A>G	c.(3592-3594)ccA>ccG	p.P1198P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1198	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CATAACAGCCACATCAGCTTC	0.373000													7	47					0	0	0.307466	0	0
C14orf39	317761	broad.mit.edu	37	14	60928088	60928088	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:60928088C>A	ENST00000321731.3	-	13	1260	c.1101G>T	c.(1099-1101)tcG>tcT	p.S367S		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	367										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CCCCTTTTTCCGACCACTGAT	0.279000													8	41					0.0581538	0.0600447	0.335167	1	0
ATP6AP1L	92270	broad.mit.edu	37	5	81614056	81614056	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:81614056G>A	ENST00000380167.4	+	10	1937	c.612G>A	c.(610-612)ctG>ctA	p.L204L	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.L204L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	204					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						AGGAGCTGCTGAGGAGCCAGG	0.537000													6	89					0	0	0.335167	0	0
UVSSA	57654	broad.mit.edu	37	4	1343562	1343562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:1343562G>T	ENST00000389851.4	+	3	796	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	UVSSA_ENST00000511216.1_Missense_Mutation_p.V117L|UVSSA_ENST00000507531.1_Missense_Mutation_p.V117L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	117								p.V117M(1)									CACCCGGGCCGTGGAAGGGTG	0.627000													9	33					4.68919e-08	6.15113e-08	0.361761	1	0
DNAJB1	3337	broad.mit.edu	37	19	14627572	14627572	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:14627572G>T	ENST00000254322.2	-	2	568	c.498C>A	c.(496-498)caC>caA	p.H166Q	DNAJB1_ENST00000396969.4_Missense_Mutation_p.H66Q	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	166					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CTCGAAGGTCGTGGGTGACTG	0.567000													16	157					3.51602e-12	5.05334e-12	0.575678	1	0
IGDCC3	9543	broad.mit.edu	37	15	65622132	65622132	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:65622132G>T	ENST00000327987.4	-	12	2180	c.1929C>A	c.(1927-1929)atC>atA	p.I643I		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	643										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGGATGCCGATGACGATGC	0.637000													16	73					8.34094e-07	1.03524e-06	0.575678	1	0
NPTXR	23467	broad.mit.edu	37	22	39219124	39219124	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:39219124G>C	ENST00000333039.2	-	4	1365	c.1242C>G	c.(1240-1242)atC>atG	p.I414M		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	414	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CATGAGGCTTGATGGGGTGCC	0.602000													3	85					0	0	0.115264	0	0
OR4D5	219875	broad.mit.edu	37	11	123811220	123811220	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:123811220G>A	ENST00000307033.2	+	1	971	c.897G>A	c.(895-897)aaG>aaA	p.K299K		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		TGGCCATGAAGAAGCTGTGGA	0.502000													22	111					0	0	0.639603	0	0
LILRP2	79166	broad.mit.edu	37	19	55220908	55220908	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55220908G>T	ENST00000413439.1	+	0	897																											GCTCAAGGGTGGGATTTCACA	0.552000													3	38					0.004672	0.0049892	0.115264	1	0
FUT10	84750	broad.mit.edu	37	8	33246470	33246470	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:33246470G>A	ENST00000335589.3	-	5	1616	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	FUT10_ENST00000518672.1_Intron|FUT10_ENST00000524021.1_Intron|FUT10_ENST00000327671.5_Intron			Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	404					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCCCACCTTTGATTTGCTTAC	0.473000													18	70					0	0	0.539581	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916727	42916727	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:42916727C>A	ENST00000316161.4	-	1	906	c.582G>T	c.(580-582)caG>caT	p.Q194H	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.Q194H	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	194					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTAGCAGGTCCTGCTCCTTGT	0.532000													11	85					1.58986e-06	1.95167e-06	0.361761	1	0
OR8K1	390157	broad.mit.edu	37	11	56114407	56114407	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:56114407T>A	ENST00000279783.2	+	1	987	c.893T>A	c.(892-894)cTa>cAa	p.L298Q		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATCTACAGCCTAAGGAACAAA	0.363000										HNSCC(65;0.19)			16	83					0	0	0.520397	0	0
SALL1	6299	broad.mit.edu	37	16	51175377	51175377	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:51175377G>C	ENST00000440970.1	-	2	896	c.465C>G	c.(463-465)caC>caG	p.H155Q	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.H252Q	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	252	Poly-Ser.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCAATATTTGGTGACGAATCT	0.517000													9	103					0	0	0.361761	0	0
MRPL15	29088	broad.mit.edu	37	8	55049216	55049216	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:55049216A>T	ENST00000260102.4	+	2	328	c.254A>T	c.(253-255)gAa>gTa	p.E85V		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	85					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GGGTTTAACGAAGGACATAGG	0.433000													14	76					0	0	0.520397	0	0
EIF3E	3646	broad.mit.edu	37	8	109240593	109240593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:109240593G>A	ENST00000220849.5	-	7	687	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Nonsense_Mutation_p.Q116*	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	209					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GTTCTCTGCTGAAGAGACTGA	0.358000													15	108					0	0	0.539581	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730685	140730685	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140730685C>A	ENST00000523390.1	+	1	858	c.858C>A	c.(856-858)agC>agA	p.S286R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGTACCAGCCTCTTCAATC	0.483000													9	146					0.000442599	0.000492655	0.335167	1	0
MUC17	140453	broad.mit.edu	37	7	100677452	100677452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:100677452C>A	ENST00000306151.4	+	3	2819	c.2755C>A	c.(2755-2757)Cct>Act	p.P919T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	919	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCTCAACTCCTGGGGAAGG	0.507000													102	466					1.15365e-47	1.91857e-47	0.870114	1	0
IL12RB2	3595	broad.mit.edu	37	1	67816597	67816597	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:67816597G>T	ENST00000262345.1	+	9	1723	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H	IL12RB2_ENST00000541374.1_Missense_Mutation_p.Q361H|IL12RB2_ENST00000544434.1_Missense_Mutation_p.Q361H|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Q361H	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	361	Fibronectin type-III 3.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCCACTATCAGGTGACCTTGC	0.473000													15	100					2.94398e-08	3.88606e-08	0.557998	1	0
COPG1	22820	broad.mit.edu	37	3	128979530	128979530	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:128979530A>T	ENST00000314797.6	+	12	1112	c.1008A>T	c.(1006-1008)tcA>tcT	p.S336S		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	336					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TCACAGATTCAAACCGCAGCA	0.552000													22	85					0	0	0.667858	0	0
RHCE	6006	broad.mit.edu	37	1	25718552	25718552	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:25718552C>T	ENST00000349320.3	-	6	907	c.519G>A	c.(517-519)aaG>aaA	p.K173K	RHCE_ENST00000294413.7_Silent_p.K189K|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000243186.6_Silent_p.K189K|RHCE_ENST00000425135.1_Silent_p.K189K|RHCE_ENST00000374352.2_Silent_p.K173K|RHCE_ENST00000349438.4_Silent_p.K189K|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000413854.1_Silent_p.K189K|RHCE_ENST00000340849.4_Intron			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	189						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTAGAGGCTTTGGCAGGC	0.517000													21	104					0	0	0.624587	0	0
EPHA3	2042	broad.mit.edu	37	3	89468362	89468362	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:89468362T>C	ENST00000336596.2	+	11	2121	c.1896T>C	c.(1894-1896)ttT>ttC	p.F632F	EPHA3_ENST00000494014.1_Silent_p.F632F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	632	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGGTGAATTTGGAGAGGTGT	0.358000										TSP Lung(6;0.00050)			5	65					0	0	0.217242	0	0
PSG5	5673	broad.mit.edu	37	19	43679606	43679606	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:43679606G>A	ENST00000404580.1	-	4	813	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PSG5_ENST00000342951.6_Missense_Mutation_p.P242L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.P242L|PSG5_ENST00000366175.3_Missense_Mutation_p.P242L|PSG5_ENST00000599812.1_Missense_Mutation_p.P335L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	242	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTAAATGCTGGGGAGGTCTGG	0.498000													55	249					0	0	0.870114	0	0
DNAJB6	10049	broad.mit.edu	37	7	157178305	157178305	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:157178305G>A	ENST00000429029.2	+	8	896	c.691G>A	c.(691-693)Ggt>Agt	p.G231S	DNAJB6_ENST00000262177.4_Splice_Site_p.G231_splice|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Splice_Site_p.G182_splice	NM_005494.2	NP_005485.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	231	Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AACAATAAATGGTAAGGAGCA	0.368000													8	184					0	0	0.520397	0	0
CNTN3	5067	broad.mit.edu	37	3	74420476	74420476	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:74420476C>T	ENST00000263665.6	-	5	556	c.529G>A	c.(529-531)Gag>Aag	p.E177K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	177	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGCCCTGTCTCCTGGGAGACA	0.443000													11	43					0	0	0.435327	0	0
PSTK	118672	broad.mit.edu	37	10	124742393	124742393	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:124742393C>G	ENST00000405485.1	+	2	427	c.361C>G	c.(361-363)Caa>Gaa	p.Q121E	PSTK_ENST00000368887.3_Missense_Mutation_p.Q121E|PSTK_ENST00000497219.1_3'UTR			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	121							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CTTAAAGGATCAAGATCTGAT	0.408000													16	102					0	0	0.539581	0	0
CNTN6	27255	broad.mit.edu	37	3	1320127	1320127	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:1320127G>T	ENST00000446702.2	+	5	1016	c.389G>T	c.(388-390)aGc>aTc	p.S130I	CNTN6_ENST00000539053.1_Missense_Mutation_p.S58I|CNTN6_ENST00000350110.2_Missense_Mutation_p.S130I			Q9UQ52	CNTN6_HUMAN	contactin 6	130	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAACAAGAAGCACAGTATCT	0.378000													11	75					7.93312e-07	9.86803e-07	0.457914	1	0
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:1940449C>T	ENST00000543818.1	+	4	1258	c.416C>T	c.(415-417)tCg>tTg	p.S139L	CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S139L|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000543730.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652000													17	75					0	0	0.539581	0	0
ISLR	3671	broad.mit.edu	37	15	74467872	74467872	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:74467872C>A	ENST00000249842.3	+	2	1030	c.673C>A	c.(673-675)Ccg>Acg	p.P225T	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.P225T	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	225	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GAGCCGCCTGCCGCCACTGCC	0.657000													10	44					6.71089e-19	1.05358e-18	0.411799	1	0
GRIA2	2891	broad.mit.edu	37	4	158257885	158257885	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:158257885C>G	ENST00000296526.7	+	11	2155	c.1830C>G	c.(1828-1830)tgC>tgG	p.C610W	GRIA2_ENST00000264426.9_Missense_Mutation_p.C610W|GRIA2_ENST00000393815.2_Missense_Mutation_p.C563W|GRIA2_ENST00000507898.1_Missense_Mutation_p.C563W|GRIA2_ENST00000449365.1_Missense_Mutation_p.C563W	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	610					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)	AGCAAGGATGCGATATTTCGC	0.393000													23	140					0	0	0.706142	0	0
TAF9	6880	broad.mit.edu	37	5	68660875	68660875	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:68660875C>A	ENST00000328663.4	-	3	1156	c.690G>T	c.(688-690)atG>atT	p.M230I	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.M230I|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.M230I	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GTGATGACATCATATTAGTGG	0.348000													5	39					0.014758	0.0155042	0.184627	1	0
UGT2B17	7367	broad.mit.edu	37	4	69433611	69433611	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:69433611C>T	ENST00000317746.2	-	1	634	c.592G>A	c.(592-594)Gtt>Att	p.V198I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	198					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCTGACATAACAACAGGTACA	0.358000													20	135					0	0	0.557998	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953685	72953685	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:72953685G>C	ENST00000421285.3	+	8	645	c.645G>C	c.(643-645)gtG>gtC	p.V215V		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	215										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACGCACACGTGACACAGGTGA	0.592000													4	87					0	0	0.217242	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480950	140480950	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140480950A>T	ENST00000231130.2	+	1	717	c.717A>T	c.(715-717)gcA>gcT	p.A239A	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		239	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGACAATGCACCAGAATTTG	0.517000													10	52					0	0	0.361761	0	0
SLC2A3	6515	broad.mit.edu	37	12	8085688	8085688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:8085688G>A	ENST00000075120.7	-	3	404	c.164C>T	c.(163-165)tCt>tTt	p.S55F		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	55					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.S55C(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGCACCTCAGAGGGTGGGGC	0.478000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	95					0	0	0.479597	0	0
LILRB1	10859	broad.mit.edu	37	19	55147967	55147967	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55147967C>A	ENST00000396331.1	+	15	2027	c.1670C>A	c.(1669-1671)cCc>cAc	p.P557H	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.P541H|LILRB1_ENST00000396327.3_Missense_Mutation_p.P558H|LILRB1_ENST00000427581.2_Missense_Mutation_p.P608H|LILRB1_ENST00000434867.2_Missense_Mutation_p.P557H|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396332.4_Missense_Mutation_p.P558H|LILRB1_ENST00000396315.1_Missense_Mutation_p.P559H|LILRB1_ENST00000324602.7_Missense_Mutation_p.P559H|LILRB1_ENST00000418536.2_Missense_Mutation_p.P541H|LILRB1_ENST00000396321.2_Missense_Mutation_p.P557H|LILRB1_ENST00000448689.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	557				P -> L (in Ref. 3; AAL36989).	regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GATGAAGACCCCCAGGCAGTG	0.577000										HNSCC(37;0.09)			20	114					4.4004e-07	5.53503e-07	0.654019	1	0
PADI3	51702	broad.mit.edu	37	1	17599915	17599915	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:17599915G>A	ENST00000375460.3	+	10	1168	c.1128G>A	c.(1126-1128)ctG>ctA	p.L376L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	376					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGGGGAACTGCAGGATTTCC	0.622000													13	45					0	0	0.520397	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830147	23830147	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:23830147G>C	ENST00000264867.2	-	5	752	c.633C>G	c.(631-633)ctC>ctG	p.L211L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	211					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCAGATATTTGAGAAGCTCCG	0.448000													21	107					0	0	0.639603	0	0
AAR2	25980	broad.mit.edu	37	20	34832713	34832713	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:34832713A>T	ENST00000373932.3	+	3	1198	c.852A>T	c.(850-852)tcA>tcT	p.S284S	AAR2_ENST00000397286.3_Silent_p.S284S|AAR2_ENST00000320849.4_Silent_p.S284S	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		TGTGCCGGTCAGAAGCAGCCA	0.522000													6	80					0	0	0.307466	0	0
XIRP2	129446	broad.mit.edu	37	2	168107917	168107917	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:168107917G>C	ENST00000409195.1	+	9	10104	c.10015G>C	c.(10015-10017)Gaa>Caa	p.E3339Q	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3117Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3339Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3164					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGGTTCAGGGAATTTGAGCA	0.398000													10	73					0	0	0.335167	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846896	28846896	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:28846896G>A	ENST00000336783.4	+	21	2879	c.2712G>A	c.(2710-2712)ttG>ttA	p.L904L	ATXN2L_ENST00000382686.4_Silent_p.L904L|ATXN2L_ENST00000325215.6_Silent_p.L904L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.L904L|ATXN2L_ENST00000340394.8_Silent_p.L904L|ATXN2L_ENST00000564304.1_Silent_p.L910L|ATXN2L_ENST00000570200.1_Silent_p.L904L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	904						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCCACACTTGGGCAGTGGAC	0.662000													6	56					0	0	0.278610	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549579	58549579	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:58549579G>C	ENST00000391700.1	+	4	719	c.375G>C	c.(373-375)gaG>gaC	p.E125D	ZSCAN1_ENST00000282326.1_Intron|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.E125D			Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	339					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGAAGGTGAGAGGCGCAGGC	0.711000													5	18					0	0	0.217242	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404718	113404718	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:113404718G>T	ENST00000272542.3	+	2	852	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	105					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GCTGATGGCCGGCTCAGTCAG	0.483000													11	67					0.000978159	0.00107597	0.387290	1	0
EARS2	124454	broad.mit.edu	37	16	23555867	23555867	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:23555867C>T	ENST00000449606.1	-	3	484	c.453G>A	c.(451-453)aaG>aaA	p.K151K	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563459.1_Silent_p.K151K|EARS2_ENST00000563232.1_Silent_p.K151K|EARS2_ENST00000564501.1_Silent_p.K151K	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	151					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	AGGCCTCCTTCTTCAGGAGCT	0.577000													10	35					0	0	0.387290	0	0
THSD7A	221981	broad.mit.edu	37	7	11676260	11676260	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:11676260G>C	ENST00000423059.3	-	2	770	c.519C>G	c.(517-519)atC>atG	p.I173M	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	173						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)		AGTACTCACAGATGATATCCT	0.493000										HNSCC(18;0.044)			8	49					0	0	0.307466	0	0
AGFG1	3267	broad.mit.edu	37	2	228388581	228388581	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:228388581G>A	ENST00000310078.7	+	4	740	c.480G>A	c.(478-480)ctG>ctA	p.L160L	AGFG1_ENST00000409979.2_Silent_p.L160L|AGFG1_ENST00000373671.3_Silent_p.L160L|AGFG1_ENST00000409171.1_Silent_p.L160L|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409315.1_Silent_p.L160L	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	160					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCAAACCACTGAAATCTCTTT	0.463000													7	112					0	0	0.307466	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250781	18250781	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:18250781C>T	ENST00000377369.2	+	3	806	c.533C>T	c.(532-534)tCt>tTt	p.S178F	SLC39A12_ENST00000377374.4_Missense_Mutation_p.S178F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S178F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S44F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	178					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.S178Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTTGACACTTCTCAAAGCCAG	0.418000													11	57					0	0	0.435327	0	0
CLP1	10978	broad.mit.edu	37	11	57427275	57427275	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:57427275G>T	ENST00000533682.1	+	2	1052	c.327G>T	c.(325-327)aaG>aaT	p.K109N	CLP1_ENST00000529430.1_Missense_Mutation_p.K120N|CLP1_ENST00000525602.1_Missense_Mutation_p.K109N|CLP1_ENST00000302731.4_Missense_Mutation_p.K109N			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	109					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AAGCGGAAAAGGAAGAAGAGC	0.567000													11	44					0.00185496	0.00202457	0.435327	1	0
MTMR4	9110	broad.mit.edu	37	17	56589853	56589853	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:56589853C>A	ENST00000323456.5	-	4	232	c.108G>T	c.(106-108)gtG>gtT	p.V36V	MTMR4_ENST00000579925.1_Silent_p.V36V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	36						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCCTGCAGCACTGTGAAGG	0.547000													11	104					8.60227e-14	1.26553e-13	0.500413	1	0
TAS1R1	80835	broad.mit.edu	37	1	6634826	6634826	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:6634826T>A	ENST00000333172.6	+	3	827	c.634T>A	c.(634-636)Tct>Act	p.S212T	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.S212T	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	212					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GACCTGGATCTCTCTGGTTGG	0.572000													4	54					0	0	0.184627	0	0
DHX37	57647	broad.mit.edu	37	12	125432621	125432621	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:125432621C>G	ENST00000544745.1	-	23	2867	c.2758G>C	c.(2758-2760)Gac>Cac	p.D920H	DHX37_ENST00000308736.2_Intron			Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	0							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGCCCTGGTCAAACTCACAT	0.602000													11	67					0	0	0.435327	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182221	100182221	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:100182221C>T	ENST00000554176.1	+	3	975	c.309C>T	c.(307-309)gaC>gaT	p.D103D	CYP46A1_ENST00000423126.2_Silent_p.D159D|CYP46A1_ENST00000261835.3_Silent_p.D256D			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	256					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGGCAGGGACTGGGTCCAGC	0.627000													15	54					0	0	0.520397	0	0
VPS39	23339	broad.mit.edu	37	15	42483359	42483359	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:42483359C>A	ENST00000318006.5	-	4	373	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	VPS39_ENST00000348544.4_Missense_Mutation_p.V82L	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	82	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGGGAAACCACATGGATCTGG	0.358000													4	45					0.00909568	0.00960353	0.150653	1	0
COL3A1	1281	broad.mit.edu	37	2	189859321	189859321	+	Splice_Site	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:189859321G>A	ENST00000304636.3	+	19	1517		c.e19+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTGAACGCGTAAGTTTTAC	0.388000													14	55					0	0	0.500413	0	0
PSEN2	5664	broad.mit.edu	37	1	227083208	227083208	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:227083208C>G	ENST00000366782.1	+	13	1874	c.1374C>G	c.(1372-1374)atC>atG	p.I458M	PSEN2_ENST00000340188.4_Missense_Mutation_p.I392M|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000472139.2_Missense_Mutation_p.I281M|PSEN2_ENST00000366783.3_Missense_Mutation_p.I425M|PSEN2_ENST00000391872.2_Missense_Mutation_p.I458M|PSEN2_ENST00000422240.2_Missense_Mutation_p.I424M			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	425					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TCGGGCTCATCTTTTACTTCT	0.602000													7	36					0	0	0.248553	0	0
AGBL1	123624	broad.mit.edu	37	15	87099504	87099504	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:87099504G>T	ENST00000441037.2	+	21	3002	c.2907G>T	c.(2905-2907)gtG>gtT	p.V969V	AGBL1_ENST00000389298.3_Silent_p.V700V|AGBL1_ENST00000421325.2_Silent_p.V969V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	969					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTCACCCAGTGGATGGCCTTC	0.458000													6	43					5.18039e-06	6.22757e-06	0.278610	1	0
KCND2	3751	broad.mit.edu	37	7	119915309	119915309	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:119915309C>A	ENST00000331113.4	+	1	1588	c.623C>A	c.(622-624)cCg>cAg	p.P208Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	208					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAAACAGTGCCGTGCGGATCA	0.547000													7	64					0.00448238	0.00481113	0.307466	1	0
ITGAM	3684	broad.mit.edu	37	16	31308876	31308876	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:31308876G>A	ENST00000544665.3	+	13	1469	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	ITGAM_ENST00000287497.8_Silent_p.V466V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	466					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCGTGGACGTGGACAGCAACG	0.637000													42	179					0	0	0.870114	0	0
GPR124	25960	broad.mit.edu	37	8	37697043	37697043	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:37697043G>T	ENST00000315215.7	+	13	2126	c.1763G>T	c.(1762-1764)tGg>tTg	p.W588L	GPR124_ENST00000412232.2_Missense_Mutation_p.W805L			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	805					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CGGAAAGGCTGGCACATGCTG	0.582000													5	54					0.184627	0.187411	0.184627	1	0
WDPCP	51057	broad.mit.edu	37	2	63349184	63349184	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:63349184C>A	ENST00000409120.1	-	12	5172	c.1622G>T	c.(1621-1623)aGa>aTa	p.R541I	WDPCP_ENST00000272321.7_Missense_Mutation_p.R733I|WDPCP_ENST00000409199.1_Missense_Mutation_p.R541I|WDPCP_ENST00000398544.3_Missense_Mutation_p.R574I			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	733					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ACCACCATCTCTGATTTCCTG	0.274000													15	58					1.3612e-06	1.67709e-06	0.479597	1	0
CFHR4	10877	broad.mit.edu	37	1	196876501	196876501	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:196876501C>T	ENST00000367416.2	+	5	806	c.669C>T	c.(667-669)tcC>tcT	p.S223S	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATACCACGTCCTTCCCGCAAA	0.403000													7	62					0	0	0.307466	0	0
PIWIL4	143689	broad.mit.edu	37	11	94341824	94341824	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:94341824G>T	ENST00000299001.6	+	15	2126	c.1915G>T	c.(1915-1917)Gtg>Ttg	p.V639L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	639	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTTGGATGCGTGGCCAGTGT	0.388000													32	175					2.35958e-20	3.7464e-20	0.847076	1	0
NEIL2	252969	broad.mit.edu	37	8	11640908	11640908	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:11640908G>T	ENST00000284503.6	+	4	1287	c.688_splice	c.e4+1	p.G230_splice	NEIL2_ENST00000403422.3_Splice_Site_p.G169_splice|NEIL2_ENST00000528323.1_Splice_Site_p.G114_splice|NEIL2_ENST00000436750.3_Splice_Site_p.G230_splice|NEIL2_ENST00000455213.2_Splice_Site_p.G230_splice	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	230					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CTCAGGGCTAGGTATGACTCA	0.537000								Base excision repair (BER), DNA glycosylases					4	47					1.024e-07	1.33183e-07	0.184627	1	0
TNPO2	30000	broad.mit.edu	37	19	12816141	12816141	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:12816141G>C	ENST00000425528.1	-	18	2292	c.1935C>G	c.(1933-1935)ctC>ctG	p.L645L	TNPO2_ENST00000450764.2_Silent_p.L645L|TNPO2_ENST00000588216.1_Silent_p.L645L|TNPO2_ENST00000592287.1_Silent_p.L645L|TNPO2_ENST00000441499.1_Silent_p.L645L|TNPO2_ENST00000356861.5_Silent_p.L645L			O14787	TNPO2_HUMAN	transportin 2	645				L -> F (in Ref. 2; AAB71349).	intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCAGGCCGCTGAGCAGATCCA	0.617000													5	16					0	0	0.184627	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651409	1651409	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:1651409G>T	ENST00000399676.2	+	1	377	c.339G>T	c.(337-339)ggG>ggT	p.G113G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	113	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTCCTGTGGGGGGTCCAAGG	0.701000													26	115					2.61193e-14	3.87986e-14	0.740014	1	0
FAM101B	359845	broad.mit.edu	37	17	293231	293231	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:293231C>A	ENST00000329099.4	-	2	158	c.159G>T	c.(157-159)caG>caT	p.Q53H		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	123										breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		CCAGGGGCAGCTGCACGTCGT	0.652000													16	98					0.000132079	0.000150094	0.575678	1	0
ITGB4	3691	broad.mit.edu	37	17	73748287	73748287	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:73748287G>A	ENST00000200181.3	+	31	4013	c.3826G>A	c.(3826-3828)Gac>Aac	p.D1276N	ITGB4_ENST00000579662.1_Missense_Mutation_p.D1276N|ITGB4_ENST00000339591.3_Missense_Mutation_p.D1276N|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.D1276N|ITGB4_ENST00000449880.2_Missense_Mutation_p.D1276N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1276	Fibronectin type-III 2.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGTGCTGGTTGACAACCCTAA	0.617000													55	388					0	0	0.870114	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890686	23890686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:23890686C>A	ENST00000532292.1	-	1	489	c.395G>T	c.(394-396)cGc>cTc	p.R132L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGAGGTCCTGCGCTCTTTAGA	0.577000													6	18					0.00116845	0.00127944	0.217242	1	0
GABRB1	2560	broad.mit.edu	37	4	47428008	47428008	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:47428008C>A	ENST00000295454.3	+	9	1690	c.1398C>A	c.(1396-1398)gtC>gtA	p.V466V	GABRB1_ENST00000538619.1_Silent_p.V396V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	466					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTTAATGTCGTCTATTGGC	0.418000													15	134					0.00498961	0.00532499	0.520397	1	0
CCL14	6358	broad.mit.edu	37	17	34310845	34310845	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:34310845C>T	ENST00000480944.2	-	2	2746	c.340G>A	c.(340-342)Gag>Aag	p.E114K	CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000536149.1_Missense_Mutation_p.E108K|CCL14_ENST00000394509.4_Missense_Mutation_p.E92K|CCL14_ENST00000586216.1_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000435911.2_Missense_Mutation_p.E108K			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	92					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTCAGTTCTCCTTCATGTCC	0.557000													11	97					0	0	0.435327	0	0
NLRP3	114548	broad.mit.edu	37	1	247587423	247587423	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:247587423G>C	ENST00000366497.2	+	4	1458	c.678G>C	c.(676-678)ggG>ggC	p.G226G	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.G226G|NLRP3_ENST00000366496.2_Silent_p.G226G|NLRP3_ENST00000336119.3_Silent_p.G226G|NLRP3_ENST00000348069.2_Silent_p.G226G|NLRP3_ENST00000391828.3_Silent_p.G226G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	226	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTTCCAGGGGGCGGCAGGGA	0.542000													8	49					0	0	0.361761	0	0
NT5C1A	84618	broad.mit.edu	37	1	40137692	40137692	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:40137692G>C	ENST00000235628.1	-	1	18	c.19C>G	c.(19-21)Cgg>Ggg	p.R7G		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	7					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGGGGCTCCCGGGGCTGCCCA	0.736000													7	19					0	0	0.248553	0	0
UGGT2	55757	broad.mit.edu	37	13	96651530	96651530	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:96651530C>A	ENST00000376747.3	-	6	762	c.692G>T	c.(691-693)gGg>gTg	p.G231V	UGGT2_ENST00000376712.4_Missense_Mutation_p.G231V|UGGT2_ENST00000397618.3_Missense_Mutation_p.G231V|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Missense_Mutation_p.G231V	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	231					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CACACCATACCCAGATAAGTA	0.338000													37	97					1.61004e-24	2.61049e-24	0.870114	1	0
SHANK1	50944	broad.mit.edu	37	19	51171781	51171781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:51171781C>A	ENST00000293441.1	-	22	3454	c.3436G>T	c.(3436-3438)Gcg>Tcg	p.A1146S	SHANK1_ENST00000391813.1_Missense_Mutation_p.A533S|SHANK1_ENST00000391814.1_Missense_Mutation_p.A1154S|SHANK1_ENST00000359082.3_Missense_Mutation_p.A1137S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1146					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCGAgggcgcggccacggcg	0.746000													7	61					0.00448238	0.00481113	0.307466	1	0
PCNX	22990	broad.mit.edu	37	14	71428954	71428954	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:71428954G>A	ENST00000304743.2	+	3	820	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PCNX_ENST00000238570.5_Missense_Mutation_p.G125E|PCNX_ENST00000439984.3_Missense_Mutation_p.G125E	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	125						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATCCTGGTGGAGGGATTGAA	0.403000													48	267					0	0	0.870114	0	0
CD84	8832	broad.mit.edu	37	1	160523269	160523269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:160523269C>A	ENST00000368054.3	-	4	694	c.659G>T	c.(658-660)cGt>cTt	p.R220L	CD84_ENST00000311224.4_Missense_Mutation_p.R220L|CD84_ENST00000368051.3_Missense_Mutation_p.R220L|CD84_ENST00000534968.1_Missense_Mutation_p.R106L|CD84_ENST00000368048.3_Missense_Mutation_p.R220L|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	220					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTGGTGAGTACGGAAGCCCAT	0.493000													11	111					0.000151284	0.000171456	0.435327	1	0
OR4C6	219432	broad.mit.edu	37	11	55432896	55432896	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:55432896C>A	ENST00000314259.3	+	1	283	c.254C>A	c.(253-255)tCc>tAc	p.S85Y		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GACACCCTCTCCAAGAGCACT	0.483000													12	90					2.27111e-07	2.89129e-07	0.411799	1	0
SAMD7	344658	broad.mit.edu	37	3	169642919	169642919	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:169642919T>C	ENST00000428432.2	+	5	674	c.285T>C	c.(283-285)acT>acC	p.T95T	SAMD7_ENST00000335556.3_Silent_p.T95T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	95										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCATCATACTGCCAGGTAAT	0.353000													11	51					0	0	0.457914	0	0
ANKRD17	26057	broad.mit.edu	37	4	73962971	73962971	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:73962971A>C	ENST00000358602.4	-	27	5156	c.5040T>G	c.(5038-5040)agT>agG	p.S1680R	ANKRD17_ENST00000330838.6_Missense_Mutation_p.S1429R|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S1567R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1680	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGTCCCTTCACTGATAGTTT	0.373000													16	72					0	0	0.500413	0	0
PLCXD2	257068	broad.mit.edu	37	3	111394116	111394116	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:111394116G>A	ENST00000393934.3	+	1	594	c.24G>A	c.(22-24)agG>agA	p.R8R	PLCXD2_ENST00000477665.1_Silent_p.R8R	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	8					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GGAAGGCCAGGAGGAAACTCA	0.577000													15	95					0	0	0.557998	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596123	161596123	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:161596123C>T	ENST00000294800.3	-	4	662	c.389G>A	c.(388-390)aGc>aAc	p.S130N	FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.S166N|FCGR3B_ENST00000367964.2_Missense_Mutation_p.S130N|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	130	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTCTTCCAGCTGTGACACCT	0.502000													5	35					0	0	0.217242	0	0
USP8	9101	broad.mit.edu	37	15	50782575	50782575	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:50782575A>C	ENST00000433963.1	+	15	2587	c.2087A>C	c.(2086-2088)cAt>cCt	p.H696P	USP8_ENST00000425032.3_Missense_Mutation_p.H590P|USP8_ENST00000396444.3_Missense_Mutation_p.H696P|USP8_ENST00000307179.4_Missense_Mutation_p.H696P	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	696					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCTCCAACTCATAAAGCCAAG	0.498000													25	128					0	0	0.667858	0	0
C1orf173	127254	broad.mit.edu	37	1	75038941	75038941	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:75038941T>A	ENST00000326665.5	-	14	2671	c.2453A>T	c.(2452-2454)cAg>cTg	p.Q818L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	818	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAATTCTGGCTGCTCTGCTGT	0.557000													19	127					0	0	0.592651	0	0
RGS12	6002	broad.mit.edu	37	4	3419117	3419117	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:3419117A>T	ENST00000336727.3	+	9	3514	c.2610A>T	c.(2608-2610)ttA>ttT	p.L870F	RGS12_ENST00000538395.1_Missense_Mutation_p.L212F|RGS12_ENST00000338806.4_Missense_Mutation_p.L222F|RGS12_ENST00000306648.7_Missense_Mutation_p.L268F|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000344733.5_Missense_Mutation_p.L870F|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.L870F	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	870						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATGACAGTTAAGTGGAAAAT	0.448000													7	28					0	0	0.278610	0	0
TAF15	8148	broad.mit.edu	37	17	34171583	34171583	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:34171583A>G	ENST00000588240.1	+	15	1395	c.1280A>G	c.(1279-1281)tAt>tGt	p.Y427C	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.Y424C	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	427	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gggggtggctatggtggagac	0.637000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								6	34					0	0	0.217242	0	0
NLRP1	22861	broad.mit.edu	37	17	5462579	5462579	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:5462579C>A	ENST00000345221.3	-	4	1991	c.1437G>T	c.(1435-1437)ctG>ctT	p.L479L	NLRP1_ENST00000354411.3_Silent_p.L479L|NLRP1_ENST00000572272.1_Silent_p.L479L|NLRP1_ENST00000262467.5_Silent_p.L479L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.L479L|NLRP1_ENST00000269280.4_Silent_p.L479L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	479	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAGAGAACCCCAGGACCTCTA	0.478000													11	37					4.36969e-10	6.05283e-10	0.435327	1	0
EPHX2	2053	broad.mit.edu	37	8	27380005	27380005	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:27380005C>G	ENST00000521400.1	+	11	1468	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	EPHX2_ENST00000518379.1_Silent_p.L314L|EPHX2_ENST00000380476.3_Silent_p.L293L|EPHX2_ENST00000517536.1_Silent_p.L163L|EPHX2_ENST00000521780.1_Silent_p.L280L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	346	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	ACATGGCTCTCTTCTACCCCG	0.517000													8	61					0	0	0.361761	0	0
RFNG	5986	broad.mit.edu	37	17	80007652	80007652	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:80007652G>A	ENST00000310496.4	-	6	736	c.729C>T	c.(727-729)atC>atT	p.I243I	RFNG_ENST00000429557.3_Silent_p.I117I|RFNG_ENST00000584838.1_5'UTR	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	243					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCCCCTCCACGATGTAGCCAA	0.672000													5	52					0	0	0.184627	0	0
NFASC	23114	broad.mit.edu	37	1	204953167	204953167	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:204953167C>T	ENST00000367172.4	+	22	2811	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	NFASC_ENST00000513543.1_Missense_Mutation_p.A824V|NFASC_ENST00000360049.4_Missense_Mutation_p.A824V|NFASC_ENST00000338515.6_Missense_Mutation_p.A828V|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000404076.1_Missense_Mutation_p.A807V|NFASC_ENST00000338586.6_Missense_Mutation_p.A828V|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Missense_Mutation_p.A824V|NFASC_ENST00000539706.1_Missense_Mutation_p.A824V|NFASC_ENST00000367171.4_Missense_Mutation_p.A813V|NFASC_ENST00000367170.4_Missense_Mutation_p.A828V			O94856	NFASC_HUMAN	neurofascin	828	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.A824V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCAGGGCTGCGCCCACTGAA	0.557000													10	50					0	0	0.361761	0	0
SBK2	646643	broad.mit.edu	37	19	56047541	56047541	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:56047541C>A	ENST00000413299.1	-	2	158	c.121G>T	c.(121-123)Gcg>Tcg	p.A41S	SBK2_ENST00000344158.3_Missense_Mutation_p.A41S	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	41			A -> E.				ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TCCTCCAGCGCGCGGGCAGCC	0.682000													6	51					0.0215528	0.0224881	0.217242	1	0
PI16	221476	broad.mit.edu	37	6	36929264	36929264	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:36929264C>T	ENST00000373674.3	+	3	759	c.431C>T	c.(430-432)tCc>tTc	p.S144F		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	144						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTGTGGTTCCCACTTCTGT	0.577000													9	164					0	0	0.411799	0	0
MUC17	140453	broad.mit.edu	37	7	100680437	100680437	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:100680437A>T	ENST00000306151.4	+	3	5804	c.5740A>T	c.(5740-5742)Agc>Tgc	p.S1914C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1914	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCTGACGGTAGCAGCATGCC	0.498000													22	313					0	0	0.667858	0	0
ABCC12	94160	broad.mit.edu	37	16	48149385	48149385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:48149385C>T	ENST00000311303.3	-	13	2275	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	ABCC12_ENST00000448542.1_Missense_Mutation_p.E644K|ABCC12_ENST00000416054.1_Silent_p.R619R	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	644	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTAATGCACTCCTCAAAGACG	0.617000													28	191					0	0	0.740014	0	0
APOB	338	broad.mit.edu	37	2	21232045	21232045	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:21232045T>A	ENST00000233242.1	-	26	7822	c.7695A>T	c.(7693-7695)gcA>gcT	p.A2565A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2565					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATATTGCTCTGCAAAGTCAG	0.448000													25	96					0	0	0.740014	0	0
SSH3	54961	broad.mit.edu	37	11	67077583	67077583	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:67077583G>C	ENST00000308127.4	+	13	1634	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	SSH3_ENST00000376757.5_Intron|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	486					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)			GGTCTCCCCAGAGGAGCACCC	0.627000													15	90					0	0	0.520397	0	0
DNAH9	1770	broad.mit.edu	37	17	11556078	11556078	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:11556078G>T	ENST00000262442.3	+	14	2422	c.2353_splice	c.e14-1	p.G785_splice	DNAH9_ENST00000454412.2_Splice_Site_p.G785_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	785	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGGAACAGGCATTTGCGAT	0.368000													10	43					3.35478e-16	5.11421e-16	0.479597	1	0
EFCAB5	374786	broad.mit.edu	37	17	28384845	28384845	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:28384845C>T	ENST00000394835.3	+	13	2709	c.2517C>T	c.(2515-2517)ctC>ctT	p.L839L	EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000378738.3_Silent_p.L839L|EFCAB5_ENST00000541045.1_Silent_p.L496L|EFCAB5_ENST00000536908.2_Silent_p.L783L|EFCAB5_ENST00000394832.2_Silent_p.L839L	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	839							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCGAGACTCTCACCTCCTTTT	0.418000													18	78					0	0	0.557998	0	0
SESN2	83667	broad.mit.edu	37	1	28598805	28598805	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:28598805G>C	ENST00000253063.3	+	4	686	c.365G>C	c.(364-366)cGc>cCc	p.R122P		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	122					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCCGCCCGCCATCAGTGT	0.642000													9	164					0	0	0.335167	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745644	77745644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:77745644G>T	ENST00000409088.3	-	3	1765	c.1351C>A	c.(1351-1353)Cca>Aca	p.P451T	LRRTM4_ENST00000409911.1_Missense_Mutation_p.P452T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.P452T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P451T|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P451T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	451						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATGCTGGCTGGGTAGCGTTTC	0.463000													5	57					8.12818e-05	9.28069e-05	0.248553	1	0
GPR83	10888	broad.mit.edu	37	11	94113618	94113618	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:94113618G>A	ENST00000243673.2	-	4	1140	c.969C>T	c.(967-969)aaC>aaT	p.N323N	GPR83_ENST00000539203.2_Silent_p.N281N	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	323						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGAGGGCATTGTTGGTGCGGA	0.522000													29	144					0	0	0.760397	0	0
C16orf13	84326	broad.mit.edu	37	16	684726	684726	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:684726T>A	ENST00000301686.8	-	5	571	c.560A>T	c.(559-561)gAg>gTg	p.E187V	C16orf13_ENST00000397666.2_Silent_p.G164G|C16orf13_ENST00000397665.2_Silent_p.G144G|C16orf13_ENST00000397664.4_Missense_Mutation_p.E110V|C16orf13_ENST00000338401.4_Missense_Mutation_p.E90V	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	187										large_intestine(1)	1		Hepatocellular(780;0.00335)				TACCATCCTCTCCAGGAGCAG	0.637000													17	54					0	0	0.592651	0	0
WIPF1	7456	broad.mit.edu	37	2	175437140	175437140	+	Silent	SNP	C	C	A	rs138492962	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:175437140C>A	ENST00000392547.2	-	5	492	c.393G>T	c.(391-393)ccG>ccT	p.P131P	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Silent_p.P131P|WIPF1_ENST00000392546.2_Silent_p.P131P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Silent_p.P131P|WIPF1_ENST00000409891.1_Silent_p.P131P|WIPF1_ENST00000359761.3_Silent_p.P131P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	131					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATCTTCCTCCCGGTGGCAACA	0.532000													4	45					5.9392e-07	7.42621e-07	0.217242	1	0
DNAH11	8701	broad.mit.edu	37	7	21730500	21730500	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:21730500G>T	ENST00000328843.6	+	36	6093		c.e36+1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTTTCAGGCAAGTGTTAT	0.408000									Kartagener syndrome				20	121					2.4624e-09	3.35564e-09	0.575678	1	0
ZIM3	114026	broad.mit.edu	37	19	57646938	57646938	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:57646938C>G	ENST00000269834.1	-	5	1152	c.767G>C	c.(766-768)tGt>tCt	p.C256S		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTTTTCCACATGTCTTACA	0.358000													9	77					0	0	0.335167	0	0
SSTR2	6752	broad.mit.edu	37	17	71165723	71165723	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:71165723G>A	ENST00000357585.2	+	2	634	c.265G>A	c.(265-267)Gat>Aat	p.D89N	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.D89N	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	89					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)			GGCCATCGCAGATGAGCTCTT	0.522000													40	95					0	0	0.870114	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941138	47941138	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:47941138C>G	ENST00000236877.6	-	7	2373	c.1978G>C	c.(1978-1980)Gag>Cag	p.E660Q	SLC8A2_ENST00000539381.1_Missense_Mutation_p.E123Q|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.E416Q	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	660					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)		ATGATGACCTCCAGCCGGCAG	0.572000													30	185					0	0	0.779181	0	0
CCDC13	152206	broad.mit.edu	37	3	42788855	42788855	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:42788855G>A	ENST00000310232.6	-	6	697	c.614C>T	c.(613-615)cCa>cTa	p.P205L		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	205										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTTCACCTCTGGGGTCTCCAG	0.532000													14	56					0	0	0.520397	0	0
SEPHS1	22929	broad.mit.edu	37	10	13378248	13378248	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:13378248C>T	ENST00000327347.5	-	4	775	c.400G>A	c.(400-402)Gac>Aac	p.D134N	SEPHS1_ENST00000537130.1_Missense_Mutation_p.D67N|SEPHS1_ENST00000545675.1_Missense_Mutation_p.D134N|SEPHS1_ENST00000378614.4_Missense_Mutation_p.D134N	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	134					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CTTACCCTGTCGGTCATTTTA	0.527000													11	51					0	0	0.435327	0	0
TTN	7273	broad.mit.edu	37	2	179481282	179481282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179481282G>T	ENST00000589042.1	-	257	48460	c.48236C>A	c.(48235-48237)cCt>cAt	p.P16079H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13511H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14438H|TTN_ENST00000460472.2_Missense_Mutation_p.P7014H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7206H|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7139H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14438	Ig-like 99.						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)			ATCATCATCAGGTGGTTCCCA	0.438000													11	71					2.80697e-09	3.80365e-09	0.387290	1	0
TTN	7273	broad.mit.edu	37	2	179458812	179458812	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179458812C>G	ENST00000589042.1	-	297	58532	c.58308G>C	c.(58306-58308)aaG>aaC	p.K19436N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K16868N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K17795N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K10371N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K10563N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K10496N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17795	Fibronectin type-III 41.						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)			CTGGTGTAGTCTTTATATGAG	0.463000													12	60					0	0	0.411799	0	0
TNR	7143	broad.mit.edu	37	1	175325571	175325571	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:175325571C>A	ENST00000367674.1	-	16	3710	c.3002G>T	c.(3001-3003)gGa>gTa	p.G1001V	TNR_ENST00000263525.2_Missense_Mutation_p.G1001V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1001	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCACTGACTCCGTCAACAAG	0.473000													10	53					0.00136819	0.00149524	0.411799	1	0
COL11A1	1301	broad.mit.edu	37	1	103471846	103471846	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:103471846G>T	ENST00000358392.2	-	16	2062	c.1745C>A	c.(1744-1746)cCt>cAt	p.P582H	COL11A1_ENST00000353414.4_Missense_Mutation_p.P531H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P454H|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.P570H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	570	Triple-helical region.				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)		CGTTGGACCAGGGGGACCCTG	0.373000													13	77					4.35082e-09	5.87674e-09	0.592651	1	0
POP4	10775	broad.mit.edu	37	19	30102791	30102791	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:30102791C>T	ENST00000585603.1	+	4	2609	c.307C>T	c.(307-309)Cat>Tat	p.H103Y	POP4_ENST00000221770.3_5'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.H22Y|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	103					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CCTCCCTCTCCATGAACTCTG	0.478000													23	88					0	0	0.717897	0	0
TRPV4	59341	broad.mit.edu	37	12	110246263	110246263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:110246263G>A	ENST00000418703.2	-	2	491	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	TRPV4_ENST00000537083.1_Nonsense_Mutation_p.Q133*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.Q133*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.Q99*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.Q133*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.Q133*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.Q133*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.Q133*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	133					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTGGGGCTCTGCGGCTGCTTC	0.642000													7	43					0	0	0.278610	0	0
ADAM19	8728	broad.mit.edu	37	5	156929912	156929912	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:156929912A>T	ENST00000257527.4	-	12	1285	c.1207T>A	c.(1207-1209)Tgt>Agt	p.C403S	ADAM19_ENST00000430702.2_Missense_Mutation_p.C136S|ADAM19_ENST00000394020.1_Missense_Mutation_p.C405S|ADAM19_ENST00000517905.1_Missense_Mutation_p.C403S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	403	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAGAGACACATTCCACCA	0.537000													19	113					0	0	0.575678	0	0
LDHC	3948	broad.mit.edu	37	11	18460162	18460162	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:18460162G>T	ENST00000541669.1	+	6	791	c.680G>T	c.(679-681)tGg>tTg	p.W227L	LDHC_ENST00000544105.1_Missense_Mutation_p.W227L|LDHC_ENST00000546146.1_Missense_Mutation_p.W169L|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000280704.4_Missense_Mutation_p.W227L|LDHC_ENST00000536880.1_Missense_Mutation_p.W213L|LDHC_ENST00000535809.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	227					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AAGGAACACTGGAAAAATATC	0.358000													6	29					3.59834e-05	4.17943e-05	0.217242	1	0
CSHL1	1444	broad.mit.edu	37	17	61987230	61987230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:61987230G>T	ENST00000450719.3	-	3	718	c.481C>A	c.(481-483)Caa>Aaa	p.Q161K	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Silent_p.L108L|CSHL1_ENST00000438387.2_Silent_p.L87L|CSHL1_ENST00000346606.6_Silent_p.L76L|CSHL1_ENST00000309894.5_Silent_p.L170L|CSHL1_ENST00000561003.1_Missense_Mutation_p.Q172K			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGGTCTGCTTGAGGGTCTGCC	0.557000													33	177					1.96642e-18	3.07287e-18	0.827153	1	0
ABCB5	340273	broad.mit.edu	37	7	20782523	20782523	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:20782523G>A	ENST00000404938.2	+	25	3700	c.3048G>A	c.(3046-3048)gaG>gaA	p.E1016E	ABCB5_ENST00000258738.6_Silent_p.E571E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	571					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGAATTTAGAGTTTCGAGAAG	0.448000													7	29					0	0	0.307466	0	0
NEB	4703	broad.mit.edu	37	2	152537297	152537297	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:152537297C>T	ENST00000397345.3	-	30	3191	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K	NEB_ENST00000409198.1_Missense_Mutation_p.E997K|NEB_ENST00000603639.1_Missense_Mutation_p.E997K|NEB_ENST00000604864.1_Missense_Mutation_p.E997K|NEB_ENST00000172853.10_Missense_Mutation_p.E997K|NEB_ENST00000427231.2_Missense_Mutation_p.E997K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	997					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAGCATCTTCAATCGAGGTA	0.338000													14	206					0	0	0.520397	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30700554	30700554	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:30700554T>A	ENST00000215790.7	-	2	439	c.275A>T	c.(274-276)aAc>aTc	p.N92I	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.N99I|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.N4I|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	92						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TTTGTCCCAGTTGTTGAGCAT	0.607000													16	68					0	0	0.557998	0	0
NRXN3	9369	broad.mit.edu	37	14	79270046	79270046	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:79270046T>A	ENST00000554719.1	+	6	1500	c.1009T>A	c.(1009-1011)Tcc>Acc	p.S337T	NRXN3_ENST00000335750.5_Missense_Mutation_p.S337T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	114					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGAGGATGTGTCCTTCCGCTT	0.562000													10	103					0	0	0.411799	0	0
INTS5	80789	broad.mit.edu	37	11	62415212	62415212	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:62415212G>T	ENST00000330574.2	-	2	2392	c.2340C>A	c.(2338-2340)ctC>ctA	p.L780L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	780					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGAGGCTGAGGAGGCTCT	0.572000													13	72					0.0167234	0.0175361	0.435327	1	0
NOXRED1	122945	broad.mit.edu	37	14	77889077	77889077	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:77889077C>A	ENST00000380835.2	-	1	322		c.e1+1		NOXRED1_ENST00000298358.3_Splice_Site	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1						proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						ACTCGGCTTACCTCAAATTAT	0.413000													87	227					4.95557e-46	8.22508e-46	0.870114	1	0
SLC26A6	65010	broad.mit.edu	37	3	48664411	48664411	+	Silent	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:48664411T>G	ENST00000358747.6	-	17	2158	c.1908A>C	c.(1906-1908)acA>acC	p.T636T	SLC26A6_ENST00000420764.2_Silent_p.T656T|SLC26A6_ENST00000383733.3_Silent_p.T638T|SLC26A6_ENST00000455886.2_Silent_p.T621T|SLC26A6_ENST00000395550.2_Silent_p.T657T|SLC26A6_ENST00000337000.8_Silent_p.T549T	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GGGCCTTCAGTGTGGACCCAT	0.582000													36	101					0	0	0.804634	0	0
TTN	7273	broad.mit.edu	37	2	179599166	179599166	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179599166G>C	ENST00000589042.1	-	52	15609	c.15385C>G	c.(15385-15387)Ctt>Gtt	p.L5129V	TTN_ENST00000342992.6_Missense_Mutation_p.L3885V|TTN_ENST00000591111.1_Missense_Mutation_p.L4812V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4812							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)			AGACACACAAGAGACTTCTGA	0.398000													8	112					0	0	0.335167	0	0
CNTN6	27255	broad.mit.edu	37	3	1418756	1418756	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:1418756G>T	ENST00000446702.2	+	17	2790	c.2163G>T	c.(2161-2163)tgG>tgT	p.W721C	CNTN6_ENST00000539053.1_Missense_Mutation_p.W649C|CNTN6_ENST00000350110.2_Missense_Mutation_p.W721C			Q9UQ52	CNTN6_HUMAN	contactin 6	721	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.W721*(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCATTACGTGGGAGGTAATTT	0.388000													6	124					0.0293803	0.0305795	0.248553	1	0
SOX5	6660	broad.mit.edu	37	12	23699306	23699306	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:23699306T>A	ENST00000546136.1	-	11	1504	c.1502A>T	c.(1501-1503)gAa>gTa	p.E501V	SOX5_ENST00000309359.1_Missense_Mutation_p.E501V|SOX5_ENST00000541536.1_Missense_Mutation_p.E393V|SOX5_ENST00000545921.1_Missense_Mutation_p.E504V|SOX5_ENST00000381381.2_Missense_Mutation_p.E393V|SOX5_ENST00000451604.2_Missense_Mutation_p.E514V|SOX5_ENST00000537393.1_Missense_Mutation_p.E479V|SOX5_ENST00000396007.2_Missense_Mutation_p.E128V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	514					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTTTCCTTCTTCATTCTGTTT	0.313000													24	107					0	0	0.769981	0	0
ADCY3	109	broad.mit.edu	37	2	25050872	25050872	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:25050872G>A	ENST00000260600.5	-	13	3182	c.2331C>T	c.(2329-2331)ctC>ctT	p.L777L	ADCY3_ENST00000405392.1_Silent_p.L364L|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	777					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCATGAGCGTGAGCTTCACCA	0.587000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	62					0	0	0.335167	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256498	69256498	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:69256498C>T	ENST00000439696.2	-	2	1070	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.E257K|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	257					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E257*(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGCCAGCTCCTGGCTGGAG	0.632000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	102					0	0	0.859065	0	0
C1orf141	400757	broad.mit.edu	37	1	67558821	67558821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:67558821G>C	ENST00000371007.2	-	8	1179	c.1070C>G	c.(1069-1071)aCg>aGg	p.T357R	C1orf141_ENST00000371006.1_Missense_Mutation_p.T357R|C1orf141_ENST00000544837.1_Missense_Mutation_p.T357R	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	357								p.T357R(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GGGTATGCTCGTTGGTTTTCC	0.343000													23	137					0	0	0.740014	0	0
FTH1	2495	broad.mit.edu	37	11	61732337	61732337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:61732337G>T	ENST00000273550.7	-	4	648	c.414C>A	c.(412-414)taC>taA	p.Y138*	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000526640.1_Nonsense_Mutation_p.Y108*|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000532601.1_Nonsense_Mutation_p.Y68*	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	138	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCTCATTCAGGTAATGTGTCT	0.468000													10	55					0.00010058	0.000114376	0.411799	1	0
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725889	130725889	+	RNA	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:130725889C>G	ENST00000412425.1	-	0	729					NR_036537.1																						AGACGCTATCCCAAAGGGGAA	0.428000													5	60					0	0	0.248553	0	0
DNM1P46	196968	broad.mit.edu	37	15	100341268	100341268	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:100341268G>T	ENST00000341853.1	-	0	378					NR_003260.1																						ACACGGTCTTGTTGACAATGG	0.562000													4	53					1.23904e-05	1.45825e-05	0.184627	1	0
MAP7D1	55700	broad.mit.edu	37	1	36643656	36643656	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:36643656C>T	ENST00000316156.4	+	8	1904	c.1451C>T	c.(1450-1452)gCa>gTa	p.A484V	MAP7D1_ENST00000373151.2_Missense_Mutation_p.A521V|MAP7D1_ENST00000373148.4_Missense_Mutation_p.A67V|MAP7D1_ENST00000373150.4_Missense_Mutation_p.A489V			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	521	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCCAGCGCCGCAGGGCCCGAG	0.697000													4	19					0	0	0.150653	0	0
OR8K5	219453	broad.mit.edu	37	11	55927648	55927648	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:55927648G>T	ENST00000313447.1	-	1	145	c.146C>A	c.(145-147)aCc>aAc	p.T49N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	49					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)				GTCCAGTTTGGTCAAAATGAT	0.443000													15	112					1.52009e-12	2.19786e-12	0.479597	1	0
SDCCAG3	10807	broad.mit.edu	37	9	139299115	139299115	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:139299115C>A	ENST00000298537.7	-	7	1178	c.967G>T	c.(967-969)Gtg>Ttg	p.V323L	SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.V273L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.V346L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	346						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TTTAGTTTCACGACGTGGTTT	0.408000													6	34					8.12818e-05	9.28069e-05	0.248553	1	0
INMT	11185	broad.mit.edu	37	7	30795046	30795046	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:30795046G>T	ENST00000013222.5	+	3	387	c.371G>T	c.(370-372)tGg>tTg	p.W124L	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.W123L	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	124						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						AGCGGCCGATGGGAGGAGAAG	0.632000													4	22					0.150653	0.153573	0.150653	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65349775	65349775	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:65349775G>A	ENST00000284037.5	+	21	3018	c.2629G>A	c.(2629-2631)Gag>Aag	p.E877K	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E877K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E877K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E877K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E877K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E873K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E877K|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E877K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E877K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	877					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AACTAATATGGAGATTGGAGG	0.378000													7	60					0	0	0.278610	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38811070	38811070	+	Splice_Site	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:38811070T>C	ENST00000449105.2	-	4	886		c.e4-2		HNRNPLL_ENST00000358367.4_Splice_Site|HNRNPLL_ENST00000409328.1_Splice_Site|HNRNPLL_ENST00000410076.1_Splice_Site|HNRNPLL_ENST00000378915.3_Splice_Site|HNRNPLL_ENST00000409636.1_Splice_Site	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like																		TAAAACATCCTATGAAGGAAA	0.308000													4	15					0	0	0.217242	0	0
LIG1	3978	broad.mit.edu	37	19	48630602	48630602	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:48630602C>A	ENST00000263274.7	-	21	2355	c.1936G>T	c.(1936-1938)Gtg>Ttg	p.V646L	LIG1_ENST00000536218.1_Missense_Mutation_p.V578L|CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.V615L|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	646					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GACGCATCCACCTCCTGGGTT	0.597000								Nucleotide excision repair (NER)					30	187					1.836e-18	2.87174e-18	0.788014	1	0
LCE1D	353134	broad.mit.edu	37	1	152770314	152770314	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:152770314A>T	ENST00000326233.6	+	2	87	c.44A>T	c.(43-45)aAg>aTg	p.K15M		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	15	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCctcccaagtgcactccc	0.612000													40	183					0	0	0.847076	0	0
LILRP2	79166	broad.mit.edu	37	19	55221339	55221339	+	RNA	SNP	G	G	T	rs145452956	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55221339G>T	ENST00000413439.1	+	0	1119																											TTCCCTCCAGGCGTGTCTAGG	0.612000													8	33					0.0381472	0.0395331	0.278610	1	0
OR1C1	26188	broad.mit.edu	37	1	247921082	247921082	+	Silent	SNP	C	C	A	rs113617040		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:247921082C>A	ENST00000408896.2	-	1	900	c.627G>T	c.(625-627)acG>acT	p.T209T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	209			T -> M (in dbSNP:rs12068080).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGACAAGGGGCGTGAGAGCCA	0.468000													6	23					3.59834e-05	4.17943e-05	0.217242	1	0
PALLD	23022	broad.mit.edu	37	4	169633019	169633019	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:169633019G>T	ENST00000335742.7	+	10	2120	c.763G>T	c.(763-765)Gct>Tct	p.A255S	PALLD_ENST00000512127.1_Missense_Mutation_p.A255S|PALLD_ENST00000505667.1_Missense_Mutation_p.A637S|PALLD_ENST00000261509.6_Missense_Mutation_p.A637S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	637					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCAACACCAGCTGTCCTGCT	0.458000									Pancreatic Cancer, Familial Clustering of				9	61					1.58986e-06	1.95167e-06	0.361761	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134242	91134242	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:91134242C>T	ENST00000373094.1	+	2	3848	c.3003C>T	c.(3001-3003)ttC>ttT	p.F1001F	PCDH11X_ENST00000373097.1_Silent_p.F1001F|PCDH11X_ENST00000395337.2_Silent_p.F1001F|PCDH11X_ENST00000361655.2_Silent_p.F1001F|PCDH11X_ENST00000361724.1_Silent_p.F1001F|PCDH11X_ENST00000298274.8_Silent_p.F1001F|PCDH11X_ENST00000406881.1_Silent_p.F1001F|PCDH11X_ENST00000373088.1_Silent_p.F1001F|PCDH11X_ENST00000504220.1_Silent_p.F1001F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1001					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						TGACGACCTTCGAGGTACCTG	0.428000													26	56					0	0	0.750413	0	0
SCAF8	22828	broad.mit.edu	37	6	155139626	155139626	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:155139626G>T	ENST00000367178.3	+	14	2111	c.1535G>T	c.(1534-1536)cGg>cTg	p.R512L	SCAF8_ENST00000417268.1_Missense_Mutation_p.R512L|SCAF8_ENST00000367186.4_Missense_Mutation_p.R578L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	512	RRM.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATTCCTCCCCGGGGCTGTGCT	0.358000													5	33					0.00198382	0.00215265	0.248553	1	0
LRRC23	10233	broad.mit.edu	37	12	7016570	7016570	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:7016570C>G	ENST00000007969.8	+	5	802	c.582C>G	c.(580-582)acC>acG	p.T194T	LRRC23_ENST00000443597.2_Silent_p.T194T|LRRC23_ENST00000436789.1_Silent_p.T194T|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Silent_p.T194T|LRRC23_ENST00000433346.1_Silent_p.T194T	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	194										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TGGAAAGCACCCTGGGAATCA	0.587000													17	164					0	0	0.539581	0	0
DOK5	55816	broad.mit.edu	37	20	53260096	53260096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:53260096G>T	ENST00000262593.5	+	7	1185	c.835G>T	c.(835-837)Gga>Tga	p.G279*	DOK5_ENST00000395939.1_Nonsense_Mutation_p.G171*	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	279							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCACAGCACGGGACAGCTCTA	0.657000													3	27					2.56e-06	3.11531e-06	0.150653	1	0
LRRC37BP1	147172	broad.mit.edu	37	17	28960325	28960325	+	RNA	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:28960325G>C	ENST00000417404.1	+	0	1186				LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA																							ATTGAATGTAGAATGGGATAC	0.453000													4	31					0	0	0.184627	0	0
CIDEA	1149	broad.mit.edu	37	18	12274218	12274218	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:12274218G>A	ENST00000320477.9	+	4	522	c.457G>A	c.(457-459)Gag>Aag	p.E153K	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	153					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CACCATGTATGAGATGTACTC	0.587000													21	155					0	0	0.624587	0	0
RCOR1	23186	broad.mit.edu	37	14	103180943	103180943	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:103180943G>T	ENST00000262241.6	+	8	1268	c.1042G>T	c.(1042-1044)Gtc>Ttc	p.V348F	RCOR1_ENST00000570597.1_Missense_Mutation_p.V345F	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	345	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ATTGGTTTCAGTCAAACGACA	0.403000													24	27					1.2476e-16	1.91579e-16	0.706142	1	0
HPX	3263	broad.mit.edu	37	11	6453004	6453004	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:6453004C>A	ENST00000265983.3	-	9	1096	c.996G>T	c.(994-996)aaG>aaT	p.K332N		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	332	Hemopexin-like 5.				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)		TATAGCCTCCCTTTGTCAGGA	0.512000													38	131					1.22674e-20	1.95327e-20	0.840704	1	0
SERPINA3	12	broad.mit.edu	37	14	95090026	95090026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:95090026C>A	ENST00000553947.1	+	8	2110	c.1222C>A	c.(1222-1224)Ctt>Att	p.L408I	SERPINA3_ENST00000482740.1_Missense_Mutation_p.L165I|SERPINA3_ENST00000393078.3_Missense_Mutation_p.L383I|SERPINA3_ENST00000393080.4_Missense_Mutation_p.L383I|SERPINA3_ENST00000467132.1_Missense_Mutation_p.L383I			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	383					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AATCACCCTCCTTTCTGCATT	0.488000													9	63					0.000274275	0.000306511	0.307466	1	0
NASP	4678	broad.mit.edu	37	1	46073647	46073647	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:46073647C>T	ENST00000350030.3	+	6	1151	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L	NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.S357L|NASP_ENST00000537798.1_Missense_Mutation_p.S291L	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	355	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GCAGAGGCCTCAGCTGTAGAG	0.532000													22	119					0	0	0.624587	0	0
MIR320A	407037	broad.mit.edu	37	8	22102500	22102500	+	RNA	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:22102500C>A	ENST00000385302.1	-	0	56					NR_029714.1																						GCCCTCTCAACCCAGCTTTTC	0.647000													24	129					6.38683e-12	9.13257e-12	0.729181	1	0
OCA2	4948	broad.mit.edu	37	15	28096607	28096607	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:28096607C>A	ENST00000354638.3	-	22	2414	c.2259G>T	c.(2257-2259)ctG>ctT	p.L753L	OCA2_ENST00000353809.5_Silent_p.L729L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	753					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGCTCAGGTTCAGGAGCACGG	0.577000									Oculocutaneous Albinism				5	16					0.184627	0.187411	0.184627	1	0
ANK3	288	broad.mit.edu	37	10	61835250	61835250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:61835250C>A	ENST00000280772.1	-	37	5580	c.5389G>T	c.(5389-5391)Gca>Tca	p.A1797S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1797	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGTGCACTTGCGGAAGGAGTT	0.428000													23	117					9.57634e-11	1.34196e-10	0.654019	1	0
VDR	7421	broad.mit.edu	37	12	48258951	48258951	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:48258951C>T	ENST00000229022.3	-	5	437	c.156G>A	c.(154-156)atG>atA	p.M52I	VDR_ENST00000535672.1_Missense_Mutation_p.M20I|VDR_ENST00000550325.1_Missense_Mutation_p.M102I|VDR_ENST00000549336.1_Missense_Mutation_p.M52I|VDR_ENST00000395324.2_Missense_Mutation_p.M52I	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	52					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCTTCCGCTTCATGCTTCGCC	0.632000													15	68					0	0	0.457914	0	0
CNTN6	27255	broad.mit.edu	37	3	1418755	1418755	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:1418755G>T	ENST00000446702.2	+	17	2789	c.2162G>T	c.(2161-2163)tGg>tTg	p.W721L	CNTN6_ENST00000539053.1_Missense_Mutation_p.W649L|CNTN6_ENST00000350110.2_Missense_Mutation_p.W721L			Q9UQ52	CNTN6_HUMAN	contactin 6	721	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCATTACGTGGGAGGTAATT	0.388000													7	125					0.00307968	0.00331825	0.278610	1	0
RNF113A	7737	broad.mit.edu	37	X	119005295	119005295	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:119005295C>G	ENST00000371442.2	-	1	496	c.282G>C	c.(280-282)gaG>gaC	p.E94D		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	94	Poly-Glu.						nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CGCCGAGACTCTCGGGCTCAT	0.537000													48	89					0	0	0.870114	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641586	106641586	+	RNA	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:106641586T>C	ENST00000390605.2	-	0	386																											TACACGGCCGTGTCGTCAGAT	0.537000													20	268					0	0	0.667858	0	0
SUFU	51684	broad.mit.edu	37	10	104263972	104263972	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:104263972T>A	ENST00000369902.3	+	1	229	c.63T>A	c.(61-63)acT>acA	p.T21T	SUFU_ENST00000423559.2_Silent_p.T21T|SUFU_ENST00000369899.2_Silent_p.T21T	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	21					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ctggcccgactgcccccccgg	0.736000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				6	18					0	0	0.248553	0	0
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			7	48					0	0	0.307466	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205678	100205678	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:100205678G>C	ENST00000223061.5	+	9	1582	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	434	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTAAGCAAGAGGAAGTGCC	0.607000													17	68					0	0	0.557998	0	0
FAM133A	286499	broad.mit.edu	37	X	92965025	92965025	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:92965025G>T	ENST00000538690.1	+	5	1168	c.607G>T	c.(607-609)Gat>Tat	p.D203Y	FAM133A_ENST00000332647.4_Missense_Mutation_p.D203Y|FAM133A_ENST00000355813.5_Missense_Mutation_p.D203Y|FAM133A_ENST00000322139.4_Missense_Mutation_p.D203Y	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	203	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						TTATGAAGAGGATGTGCAAGC	0.358000													3	5					0.115264	0.118286	0.115264	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283820	151283820	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:151283820G>T	ENST00000509345.2	-	0	516																											GCTCCCTGAGGACTCTTGAGA	0.612000													16	40					8.34094e-07	1.03524e-06	0.575678	1	0
SLC8A2	6543	broad.mit.edu	37	19	47969421	47969421	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:47969421G>T	ENST00000236877.6	-	2	635	c.240C>A	c.(238-240)gtC>gtA	p.V80V	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	80					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)		GAAACATGTAGACCATGGCCA	0.617000													13	63					0.00316338	0.00340407	0.479597	1	0
KIAA0247	9766	broad.mit.edu	37	14	70175421	70175421	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:70175421G>T	ENST00000342745.4	+	5	799	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	162						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CTGGGGACCAGGTCTCCATCA	0.498000													32	87					1.42033e-22	2.28311e-22	0.796494	1	0
PCDH10	57575	broad.mit.edu	37	4	134071464	134071464	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:134071464C>T	ENST00000264360.4	+	1	995	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	57	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCAGACGGTGCCCAACTCAAG	0.527000													18	137					0	0	0.575678	0	0
TRIM48	79097	broad.mit.edu	37	11	55032474	55032474	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:55032474A>T	ENST00000417545.2	+	2	229	c.143A>T	c.(142-144)cAc>cTc	p.H48L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	32						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACTGTGGGCACAGCTTTTGC	0.463000													31	150					0	0	0.760397	0	0
MIR409	574413	broad.mit.edu	37	14	101531709	101531709	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:101531709G>T	ENST00000362237.1	+	0	73					NR_029975.1																						ACCCCTTTTCGGTATCAAATT	0.592000													21	64					1.2644e-06	1.56585e-06	0.592651	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52769570	52769570	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:52769570C>T	ENST00000287727.3	+	13	3583	c.3411C>T	c.(3409-3411)atC>atT	p.I1137I	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000371591.1_Silent_p.I1137I|ZFYVE9_ENST00000357206.2_Silent_p.I1078I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1137					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAACTAGCATCAAAATTCCCA	0.378000													14	150					0	0	0.557998	0	0
RERE	473	broad.mit.edu	37	1	8418747	8418747	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:8418747G>C	ENST00000337907.3	-	21	4482	c.3848C>G	c.(3847-3849)cCc>cGc	p.P1283R	RERE_ENST00000377464.1_Missense_Mutation_p.P1015R|RERE_ENST00000476556.1_Missense_Mutation_p.P729R|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1283R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1283					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCCAGCAGGGGGTCCGTGGG	0.667000													18	80					0	0	0.608945	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909737	909737	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:909737T>A	ENST00000379409.2	+	14	1881	c.1851T>A	c.(1849-1851)ccT>ccA	p.P617P	PLEKHN1_ENST00000379407.2_Silent_p.P530P|PLEKHN1_ENST00000379410.3_Silent_p.P565P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	617										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCTGGCTGCCTCTGACAGGTG	0.632000													11	179					0	0	0.479597	0	0
FKBP10	60681	broad.mit.edu	37	17	39978046	39978046	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:39978046G>T	ENST00000321562.4	+	9	1644	c.1540G>T	c.(1540-1542)Gat>Tat	p.D514Y	FKBP10_ENST00000544340.1_Missense_Mutation_p.D287Y	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	514	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CCTCAACAAGGATGGCGAGGT	0.602000													31	152					3.86903e-22	6.20741e-22	0.769981	1	0
LRP1B	53353	broad.mit.edu	37	2	141665549	141665549	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:141665549G>T	ENST00000389484.3	-	22	4388	c.3417C>A	c.(3415-3417)ccC>ccA	p.P1139P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1139	LDL-receptor class A 10.				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)		AAGGATGCTTGGGTGGTCCAC	0.468000										TSP Lung(27;0.18)			21	94					1.40151e-16	2.14626e-16	0.592651	1	0
ZNF781	163115	broad.mit.edu	37	19	38160762	38160762	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:38160762C>T	ENST00000358582.4	-	4	1036	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Silent_p.K96K	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GCCTAAACGTCTTTCTACATT	0.378000													19	84					0	0	0.575678	0	0
SMAD6	4091	broad.mit.edu	37	15	67073643	67073643	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:67073643G>T	ENST00000288840.5	+	4	2292	c.1261G>T	c.(1261-1263)Ggc>Tgc	p.G421C	SMAD6_ENST00000338426.4_Missense_Mutation_p.G160C	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	421	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GGACGCGCCCGGCGGCCGCGC	0.721000													9	23					3.09899e-07	3.9215e-07	0.307466	1	0
CCNA2	890	broad.mit.edu	37	4	122743558	122743558	+	Splice_Site	SNP	C	C	A	rs77666063		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:122743558C>A	ENST00000274026.5	-	2	760	c.457_splice	c.e2+1	p.E153_splice		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	153					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TAAAACTTACCAAAACTACCA	0.338000													3	25					0.115264	0.118286	0.115264	1	0
SLC12A2	6558	broad.mit.edu	37	5	127512819	127512819	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:127512819T>A	ENST00000262461.2	+	21	3141	c.2952T>A	c.(2950-2952)acT>acA	p.T984T	SLC12A2_ENST00000343225.4_Intron	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	984					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGCAAGACTGCAACTCAAC	0.294000													11	55					0	0	0.411799	0	0
MAML3	55534	broad.mit.edu	37	4	140641195	140641195	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:140641195G>T	ENST00000509479.2	-	5	3555	c.2699C>A	c.(2698-2700)cCg>cAg	p.P900Q	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	896	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGGTTGCCTCGGTCCCTGGGC	0.522000													71	386					9.04243e-43	1.4964e-42	0.870114	1	0
ABCG5	64240	broad.mit.edu	37	2	44055161	44055161	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:44055161G>A	ENST00000405322.1	-	4	1248	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	ABCG5_ENST00000260645.1_Missense_Mutation_p.R199C|ABCG5_ENST00000543989.1_5'UTR			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	199	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAGACCCGGCGCCGCTCACCC	0.597000													4	47					0	0	0.184627	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986281	42986281	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:42986281G>T	ENST00000326974.4	+	6	915	c.720G>T	c.(718-720)cgG>cgT	p.R240R	KLHDC3_ENST00000332245.8_Silent_p.R181R|KLHDC3_ENST00000244670.8_Silent_p.R106R	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	240					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGGGGCGCCGGAGCCACTCGG	0.557000													16	207					3.99206e-14	5.90389e-14	0.557998	1	0
CYLC1	1538	broad.mit.edu	37	X	83128433	83128433	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:83128433A>T	ENST00000329312.4	+	4	754	c.717A>T	c.(715-717)tcA>tcT	p.S239S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	239					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGATTTGCTCAGAAAATAGTT	0.333000													6	8					0	0	0.217242	0	0
CRMP1	1400	broad.mit.edu	37	4	5844827	5844827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:5844827G>T	ENST00000324989.7	-	7	1113	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	CRMP1_ENST00000512574.1_Missense_Mutation_p.P226H|CRMP1_ENST00000397890.2_Missense_Mutation_p.P228H|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	228					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TACCTCTTCAGGTCTGCTCAG	0.552000													29	144					1.99505e-19	3.14979e-19	0.760397	1	0
NFAT5	10725	broad.mit.edu	37	16	69711162	69711162	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:69711162G>A	ENST00000349945.1	+	11	2884	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	NFAT5_ENST00000432919.1_Silent_p.V538V|NFAT5_ENST00000567239.1_Silent_p.V538V|NFAT5_ENST00000354436.2_Silent_p.V520V|NFAT5_ENST00000393742.2_Silent_p.V444V|NFAT5_ENST00000566899.1_Silent_p.V444V	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	520					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTTGCCTGTGTCAGTGGGAA	0.368000													24	164					0	0	0.717897	0	0
PATZ1	23598	broad.mit.edu	37	22	31741081	31741081	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:31741081C>G	ENST00000266269.5	-	1	1137	c.508G>C	c.(508-510)Gcc>Ccc	p.A170P	PATZ1_ENST00000215919.3_Missense_Mutation_p.A170P|PATZ1_ENST00000351933.4_Missense_Mutation_p.A170P|PATZ1_ENST00000405309.3_Missense_Mutation_p.A170P	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	170					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ATTATATCGGCGCGGGCAGGG	0.587000													31	146					0	0	0.788014	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171294	150171294	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:150171294T>A	ENST00000307271.3	+	4	1451	c.877T>A	c.(877-879)Tgg>Agg	p.W293R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	293						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.W293R(1)		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)		GAGCAGAAGCTGGAGAAAAAA	0.458000													9	68					0	0	0.335167	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149784918	149784918	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:149784918C>G	ENST00000331491.1	-	1	318	c.319G>C	c.(319-321)Gac>Cac	p.D107H		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	107					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGGTTCGTGTCTTCGAACAGC	0.642000													13	64					0	0	0.592651	0	0
PIAS3	10401	broad.mit.edu	37	1	145578988	145578988	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:145578988A>T	ENST00000393045.2	+	4	656	c.566A>T	c.(565-567)cAg>cTg	p.Q189L	PIAS3_ENST00000369298.1_Missense_Mutation_p.Q154L|PIAS3_ENST00000369299.3_Missense_Mutation_p.Q180L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	189	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TATACCATACAGGTGCAGCTA	0.527000													23	116					0	0	0.639603	0	0
TRRAP	8295	broad.mit.edu	37	7	98573786	98573786	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:98573786C>T	ENST00000359863.4	+	53	8042	c.7833C>T	c.(7831-7833)ctC>ctT	p.L2611L	TRRAP_ENST00000446306.3_Silent_p.L2593L|TRRAP_ENST00000355540.3_Silent_p.L2593L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2611					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCGCTGCTCAGCGCTTTCG	0.567000													6	59					0	0	0.248553	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784929	68784929	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:68784929C>A	ENST00000508048.1	-	8	746	c.711G>T	c.(709-711)tgG>tgT	p.W237C	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.W241C|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.W238C|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	241	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						AACTAACAGTCCATTGATGTG	0.343000													14	81					1.15088e-07	1.47744e-07	0.500413	1	0
TRIM55	84675	broad.mit.edu	37	8	67061897	67061897	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:67061897G>C	ENST00000315962.4	+	5	994	c.621G>C	c.(619-621)caG>caC	p.Q207H	TRIM55_ENST00000353317.5_Missense_Mutation_p.Q207H|TRIM55_ENST00000276573.7_Missense_Mutation_p.Q207H|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	207						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GCAGAAAACAGAAACAAGAGC	0.388000													6	39					0	0	0.248553	0	0
FAM160B1	57700	broad.mit.edu	37	10	116621019	116621019	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:116621019G>C	ENST00000369248.4	+	16	2453	c.2118G>C	c.(2116-2118)caG>caC	p.Q706H	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q706H	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	706										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTCGAATCCAGCGTATTCAAG	0.418000													11	61					0	0	0.457914	0	0
PASD1	139135	broad.mit.edu	37	X	150844493	150844493	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:150844493G>A	ENST00000370357.4	+	16	2445	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	734						nucleus	signal transducer activity	p.E734*(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGTAGGAGTCGAGGGACCTCC	0.532000													36	93					0	0	0.834066	0	0
SEZ6	124925	broad.mit.edu	37	17	27308893	27308893	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:27308893C>T	ENST00000317338.12	-	2	648	c.220G>A	c.(220-222)Gag>Aag	p.E74K	SEZ6_ENST00000335960.6_Missense_Mutation_p.E74K|SEZ6_ENST00000442608.3_Missense_Mutation_p.E74K|SEZ6_ENST00000360295.9_Missense_Mutation_p.E74K|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	74						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGGAATTCCTCAAGCAGCGGG	0.612000													9	49					0	0	0.387290	0	0
PALLD	23022	broad.mit.edu	37	4	169846220	169846220	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:169846220G>C	ENST00000335742.7	+	20	4181	c.2824G>C	c.(2824-2826)Gac>Cac	p.D942H	CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.D718H|PALLD_ENST00000505667.1_Missense_Mutation_p.D1117H|PALLD_ENST00000507735.1_Missense_Mutation_p.D613H|PALLD_ENST00000261509.6_Missense_Mutation_p.D1100H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1324					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCCAGGCTGGACGTTTACAG	0.423000									Pancreatic Cancer, Familial Clustering of				11	57					0	0	0.411799	0	0
HSPBP1	23640	broad.mit.edu	37	19	55777551	55777551	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55777551G>C	ENST00000255631.5	-	6	1054	c.744C>G	c.(742-744)gtC>gtG	p.V248V	HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000433386.2_Silent_p.V248V|HSPBP1_ENST00000587922.1_Silent_p.V248V	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	251					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGCTGATTTGACCTTGAGCT	0.617000													3	12					0	0	0.115264	0	0
MRPS28	28957	broad.mit.edu	37	8	80942443	80942443	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:80942443C>A	ENST00000276585.4	-	1	63	c.41G>T	c.(40-42)aGc>aTc	p.S14I	MRPS28_ENST00000521605.1_Missense_Mutation_p.S14I|TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000522987.1_5'UTR	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	14						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CAGAAAATGGCTCTCGGCAGC	0.597000													12	54					1.3612e-06	1.67709e-06	0.479597	1	0
NPFFR2	10886	broad.mit.edu	37	4	73013163	73013163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:73013163C>A	ENST00000308744.6	+	4	1301	c.1203C>A	c.(1201-1203)taC>taA	p.Y401*	NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Y302*|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Y299*|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	401					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTCAGACTACGCTGACCTTT	0.468000													16	59					1.15088e-07	1.47744e-07	0.500413	1	0
CCDC88C	440193	broad.mit.edu	37	14	91763720	91763720	+	Missense_Mutation	SNP	G	G	A	rs142539336	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:91763720G>A	ENST00000389857.6	-	22	3981	c.3895C>T	c.(3895-3897)Cgc>Tgc	p.R1299C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1299					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)				TCGTCGAAGCGGGCCTGCCAG	0.632000													8	22					0	0	0.361761	0	0
ATP4B	496	broad.mit.edu	37	13	114309244	114309244	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:114309244C>T	ENST00000335288.4	-	2	167	c.126G>A	c.(124-126)ctG>ctA	p.L42L		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	42					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	CCACGTAGTACAGGCTGATCC	0.557000													5	71					0	0	0.361761	0	0
FAM47A	158724	broad.mit.edu	37	X	34149654	34149654	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:34149654G>C	ENST00000346193.3	-	1	793	c.742C>G	c.(742-744)Cgc>Ggc	p.R248G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	248	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCCCCGGGCGGATATGGGAC	0.627000													7	34					0	0	0.307466	0	0
PER2	8864	broad.mit.edu	37	2	239180143	239180143	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:239180143C>T	ENST00000254657.3	-	6	861	c.582G>A	c.(580-582)gcG>gcA	p.A194A	PER2_ENST00000254658.3_Silent_p.A194A|PER2_ENST00000355768.2_Silent_p.A194A|PER2_ENST00000440245.1_Silent_p.A194A	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	194	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACACGGCCACCGCAAACATAT	0.542000													8	33					0	0	0.361761	0	0
DRAXIN	374946	broad.mit.edu	37	1	11766490	11766490	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:11766490C>A	ENST00000294485.5	+	2	310	c.175C>A	c.(175-177)Cgg>Agg	p.R59R		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CCACCACCGCCGGCGGGGCCC	0.721000													11	34					2.27111e-07	2.89129e-07	0.411799	1	0
DSCAML1	57453	broad.mit.edu	37	11	117376296	117376296	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:117376296G>A	ENST00000321322.6	-	9	2116	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	DSCAML1_ENST00000527706.1_Silent_p.I435I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	645	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTTGCTCTCGATGGTCACGC	0.577000													13	76					0	0	0.500413	0	0
VCAN	1462	broad.mit.edu	37	5	82834269	82834269	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:82834269G>T	ENST00000265077.3	+	8	6012	c.5447G>T	c.(5446-5448)gGg>gTg	p.G1816V	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.G829V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1816	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATCAACCTGGGGTTCAGGAA	0.502000													19	63					4.35082e-09	5.87674e-09	0.592651	1	0
MYO7B	4648	broad.mit.edu	37	2	128331537	128331537	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:128331537G>T	ENST00000389524.4	+	7	688	c.635G>T	c.(634-636)cGc>cTc	p.R212L	MYO7B_ENST00000409816.2_Missense_Mutation_p.R212L|MYO7B_ENST00000428314.1_Missense_Mutation_p.R212L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	212	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AACTCAAGCCGCTTTGGGAAG	0.542000													21	100					4.54149e-19	7.14997e-19	0.624587	1	0
CPE	1363	broad.mit.edu	37	4	166414410	166414410	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:166414410G>T	ENST00000402744.4	+	7	1481	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	401					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATAGACCACGATGTTACATC	0.413000											OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	54					7.03913e-09	9.43221e-09	0.411799	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656343	40656343	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:40656343T>A	ENST00000406785.1	-	2	1267	c.1078A>T	c.(1078-1080)Agt>Tgt	p.S360C	SLC8A1_ENST00000542024.1_Missense_Mutation_p.S360C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S360C|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S360C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S360C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S360C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S360C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S360C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S360C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S360C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	360					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.S360fs*2(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AATGCTCTACTTTTTTGCTGC	0.423000													20	111					0	0	0.624587	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71192192	71192192	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:71192192G>T	ENST00000234396.4	+	14	1556	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.D478Y|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	495					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGCCGTGATCGACGAGTTCTA	0.662000											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	102					0.000229342	0.000258528	0.608945	1	0
KIF1C	10749	broad.mit.edu	37	17	4905834	4905834	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:4905834C>T	ENST00000320785.5	+	7	862	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	169	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCTGCGGGTCCGGGAGCACCC	0.557000													44	141					0	0	0.870114	0	0
TPO	7173	broad.mit.edu	37	2	1491710	1491710	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:1491710C>A	ENST00000345913.4	+	10	1806	c.1715C>A	c.(1714-1716)aCc>aAc	p.T572N	TPO_ENST00000382201.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.T572N|TPO_ENST00000382198.1_Missense_Mutation_p.T399N|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.T399N|TPO_ENST00000337415.3_Missense_Mutation_p.T572N|TPO_ENST00000329066.4_Missense_Mutation_p.T572N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	572					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AATTCCAGCACCTTGGATCTG	0.587000													21	82					4.26978e-12	6.11577e-12	0.654019	1	0
KEL	3792	broad.mit.edu	37	7	142651292	142651292	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:142651292C>G	ENST00000355265.2	-	8	1377	c.903G>C	c.(901-903)atG>atC	p.M301I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	301					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGATAGTGACCATCTGGAAGA	0.552000													4	53					0	0	0.150653	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169088	32169088	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:32169088C>G	ENST00000375023.3	-	22	4083	c.3945G>C	c.(3943-3945)ctG>ctC	p.L1315L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1315					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCACCCGGGCCAGGGCAAACA	0.652000													10	55					0	0	0.411799	0	0
INO80	54617	broad.mit.edu	37	15	41342253	41342253	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:41342253T>C	ENST00000361937.3	-	20	2746	c.2322A>G	c.(2320-2322)ctA>ctG	p.L774L	INO80_ENST00000401393.3_Silent_p.L774L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	774	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGCCTGATATAGCAGCTTCT	0.368000													7	36					0	0	0.278610	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939021	2939021	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:2939021C>T	ENST00000378404.2	+	1	976	c.771C>T	c.(769-771)caC>caT	p.H257H		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	257						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ACCCGCTGCACCAGGCGCCCG	0.657000													8	75					0	0	0.335167	0	0
ZIC1	7545	broad.mit.edu	37	3	147128677	147128677	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:147128677C>A	ENST00000282928.4	+	1	1507	c.778C>A	c.(778-780)Cac>Aac	p.H260N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	260					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACCGTGGAGCACGTAGGTGG	0.552000													6	101					0.00307968	0.00331825	0.278610	1	0
HEPACAM	220296	broad.mit.edu	37	11	124794834	124794834	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:124794834G>T	ENST00000298251.4	-	2	622	c.217C>A	c.(217-219)Cgg>Agg	p.R73R		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	73	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGCTTGTCCCGCTTCAGCTGC	0.592000													16	58					1.02788e-11	1.46356e-11	0.520397	1	0
ANKRD23	200539	broad.mit.edu	37	2	97506557	97506557	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:97506557C>G	ENST00000318357.4	-	4	434	c.393G>C	c.(391-393)ttG>ttC	p.L131F	ANKRD23_ENST00000418232.1_Missense_Mutation_p.L131F|ANKRD23_ENST00000476975.1_Intron|ANKRD23_ENST00000331001.2_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	131						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTCCGTCTGTCAAGTACTTGT	0.602000													23	126					0	0	0.681144	0	0
RHBG	57127	broad.mit.edu	37	1	156351228	156351228	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:156351228A>T	ENST00000400992.2	+	5	1036	c.668A>T	c.(667-669)tAc>tTc	p.Y223F	RHBG_ENST00000537040.1_Missense_Mutation_p.Y93F|RHBG_ENST00000451864.2_Missense_Mutation_p.Y223F|RHBG_ENST00000368246.2_Missense_Mutation_p.Y255F|RHBG_ENST00000255013.3_Missense_Mutation_p.Y186F|RHBG_ENST00000368249.1_Missense_Mutation_p.Y255F			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	255					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCAACACATACTACTCCCTG	0.577000													11	73					0	0	0.361761	0	0
AFF2	2334	broad.mit.edu	37	X	148037333	148037333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:148037333G>T	ENST00000370460.2	+	11	2237	c.1758G>T	c.(1756-1758)agG>agT	p.R586S	AFF2_ENST00000286437.5_Missense_Mutation_p.R227S|AFF2_ENST00000342251.3_Missense_Mutation_p.R553S|AFF2_ENST00000370457.5_Missense_Mutation_p.R553S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	586					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGAAAGGCCTCTCCTCA	0.478000													47	93					3.05275e-18	4.76161e-18	0.864702	1	0
GSR	2936	broad.mit.edu	37	8	30539450	30539450	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:30539450C>G	ENST00000221130.5	-	11	1372	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	GSR_ENST00000546342.1_Missense_Mutation_p.E399Q|GSR_ENST00000541648.1_Missense_Mutation_p.E375Q|GSR_ENST00000537535.1_Missense_Mutation_p.E346Q|GSR_ENST00000414019.1_Missense_Mutation_p.E385Q	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	428					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TACCTACCTTCCGTGAGTCCC	0.428000													9	56					0	0	0.361761	0	0
KDM4C	23081	broad.mit.edu	37	9	7174678	7174678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:7174678C>A	ENST00000381309.3	+	22	3685	c.3120C>A	c.(3118-3120)taC>taA	p.Y1040*	KDM4C_ENST00000428870.2_Nonsense_Mutation_p.Y727*|KDM4C_ENST00000442236.2_Nonsense_Mutation_p.Y785*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1040					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ACCCTGTATACCGCACTTTTT	0.473000													23	183					3.1745e-13	4.63774e-13	0.729181	1	0
SGSM1	129049	broad.mit.edu	37	22	25315856	25315856	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:25315856C>G	ENST00000400358.4	+	24	3146	c.3089C>G	c.(3088-3090)tCt>tGt	p.S1030C	SGSM1_ENST00000400359.4_Missense_Mutation_p.S1085C	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1085	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CACGTCTCCTCTGCGCACTAC	0.488000													3	41					0	0	0.184627	0	0
MYO18B	84700	broad.mit.edu	37	22	26423002	26423002	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:26423002C>T	ENST00000335473.7	+	43	7312	c.7062C>T	c.(7060-7062)ctC>ctT	p.L2354L	MYO18B_ENST00000536101.1_Silent_p.L2354L|MYO18B_ENST00000407587.2_Silent_p.L2355L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2354						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						GCGAGTCCCTCTTAGAATCCA	0.572000													14	167					0	0	0.479597	0	0
NLRP5	126206	broad.mit.edu	37	19	56539747	56539747	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:56539747G>C	ENST00000390649.3	+	7	2148	c.2148G>C	c.(2146-2148)caG>caC	p.Q716H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	716						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGATTAACCAGAACCTGGACT	0.488000													37	205					0	0	0.840704	0	0
TGFBR3	7049	broad.mit.edu	37	1	92193320	92193320	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:92193320C>G	ENST00000212355.4	-	7	1246	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	TGFBR3_ENST00000525962.1_Missense_Mutation_p.E261Q|TGFBR3_ENST00000370399.2_Missense_Mutation_p.E261Q	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	261					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCAAGATCCTCTTGAGAAGGT	0.383000													12	39					0	0	0.411799	0	0
PSME4	23198	broad.mit.edu	37	2	54161847	54161847	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:54161847C>T	ENST00000404125.1	-	8	907	c.852G>A	c.(850-852)ctG>ctA	p.L284L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	284					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCAAGCTTCTCAGAATTCTTG	0.323000													6	34					0	0	0.248553	0	0
OR52I2	143502	broad.mit.edu	37	11	4608289	4608289	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:4608289T>A	ENST00000312614.4	+	1	269	c.247T>A	c.(247-249)Tcc>Acc	p.S83T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGATGGATTCCACTCGGCA	0.493000													6	235					0	0	0.557998	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111613	186111613	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:186111613C>A	ENST00000458385.2	-	2	857	c.738G>T	c.(736-738)gaG>gaT	p.E246D	KIAA1430_ENST00000514798.1_Missense_Mutation_p.E246D|KIAA1430_ENST00000296775.6_Missense_Mutation_p.E246D	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	246										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CTTCAGACTCCTCAGGGTAGT	0.418000													6	22					0.00198382	0.00215265	0.248553	1	0
PCNXL2	80003	broad.mit.edu	37	1	233136138	233136138	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:233136138G>A	ENST00000258229.8	-	30	5475	c.5241C>T	c.(5239-5241)ctC>ctT	p.L1747L	PCNXL2_ENST00000344698.2_Silent_p.L399L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1747						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCGCAGGGTGAGCAGCTCTT	0.612000													10	111					0	0	0.457914	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417670	150417670	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:150417670C>A	ENST00000307194.5	+	3	718	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACCGGGCCACCGGCCGGGAG	0.657000													6	34					8.12818e-05	9.28069e-05	0.248553	1	0
STIM2	57620	broad.mit.edu	37	4	27019591	27019591	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:27019591C>T	ENST00000382009.3	+	12	2300	c.2033C>T	c.(2032-2034)tCt>tTt	p.S678F	STIM2_ENST00000237364.5_Missense_Mutation_p.S670F|STIM2_ENST00000467087.1_Missense_Mutation_p.S583F|STIM2_ENST00000467011.1_Missense_Mutation_p.S583F|STIM2_ENST00000465503.1_Missense_Mutation_p.S591F|STIM2_ENST00000412829.2_Missense_Mutation_p.S670F	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	583					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ATTTACTTCTCTGCTGAAAAG	0.522000													81	447					0	0	0.870114	0	0
TNR	7143	broad.mit.edu	37	1	175365731	175365731	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:175365731C>G	ENST00000367674.1	-	5	1897	c.1189G>C	c.(1189-1191)Gct>Cct	p.A397P	TNR_ENST00000263525.2_Missense_Mutation_p.A397P	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	397	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTAATGACAGCGTAGACGCTG	0.567000													16	62					0	0	0.539581	0	0
OSBPL7	114881	broad.mit.edu	37	17	45895954	45895954	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:45895954C>A	ENST00000007414.3	-	6	589	c.398G>T	c.(397-399)tGg>tTg	p.W133L	OSBPL7_ENST00000392507.3_Missense_Mutation_p.W133L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	133	PH.				lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CTGCGCCACCCAGCTCTGGAA	0.617000													10	51					3.07112e-06	3.71848e-06	0.387290	1	0
SFMBT2	57713	broad.mit.edu	37	10	7318908	7318908	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:7318908C>A	ENST00000361972.4	-	7	906	c.816G>T	c.(814-816)ctG>ctT	p.L272L	SFMBT2_ENST00000397167.1_Silent_p.L272L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	272					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGATTTTTCCAGAGTACATT	0.388000													18	135					7.87624e-14	1.16075e-13	0.639603	1	0
CD248	57124	broad.mit.edu	37	11	66083467	66083467	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:66083467C>A	ENST00000311330.3	-	1	1048	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	344	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCCATCAGCCTCCAGCTCAT	0.582000													4	41					0.217242	0.220252	0.217242	1	0
LPA	4018	broad.mit.edu	37	6	161021988	161021988	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:161021988C>A	ENST00000447678.1	-	20	3208	c.3088G>T	c.(3088-3090)Gtt>Ttt	p.V1030F	LPA_ENST00000316300.5_Missense_Mutation_p.V1030F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3538	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCCAGAATAACATTCGGAGGG	0.493000													13	47					4.14922e-12	5.94815e-12	0.500413	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84506903	84506903	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:84506903C>T	ENST00000286744.5	+	7	887	c.663C>T	c.(661-663)gcC>gcT	p.A221A	ADAMTSL3_ENST00000567476.1_Silent_p.A221A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	221						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGTCTGTGCCGGCGATGGCT	0.522000													16	73					0	0	0.500413	0	0
CLASP1	23332	broad.mit.edu	37	2	122120858	122120858	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:122120858C>T	ENST00000263710.4	-	37	4485	c.4096G>A	c.(4096-4098)Gcg>Acg	p.A1366T	CLASP1_ENST00000545861.1_Missense_Mutation_p.A1073T|CLASP1_ENST00000541377.1_Missense_Mutation_p.A1305T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A1299T|CLASP1_ENST00000455322.2_Missense_Mutation_p.A1322T|CLASP1_ENST00000541859.1_Missense_Mutation_p.A1083T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A1306T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1366	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACTCTTAACGCCAGTGCTCGA	0.463000													5	18					0	0	0.217242	0	0
HSPA12A	259217	broad.mit.edu	37	10	118439187	118439187	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:118439187G>C	ENST00000369209.3	-	10	1217	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	371							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTTTGATTTTGAATTGTTCAA	0.433000													13	95					0	0	0.435327	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138728	32138728	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:32138728G>A	ENST00000395499.1	-	3	899	c.320C>T	c.(319-321)tCt>tTt	p.S107F	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.S107F|AGPAT1_ENST00000395496.1_Missense_Mutation_p.S107F|AGPAT1_ENST00000395497.1_Missense_Mutation_p.S107F|AGPAT1_ENST00000375107.3_Missense_Mutation_p.S107F|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000336984.6_Missense_Mutation_p.S107F|AGPAT1_ENST00000412465.2_Intron			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	107					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CAGATCGAGAGAGCTCTGGTG	0.577000													7	147					0	0	0.248553	0	0
GDA	9615	broad.mit.edu	37	9	74838121	74838121	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:74838121A>T	ENST00000358399.3	+	7	785	c.692A>T	c.(691-693)aAa>aTa	p.K231I	GDA_ENST00000376989.3_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.K231I|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.K157I|GDA_ENST00000376986.1_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	231					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AACATTGCTAAAACCCGTGAT	0.423000													15	56					0	0	0.479597	0	0
FBXO7	25793	broad.mit.edu	37	22	32894161	32894161	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:32894161G>A	ENST00000266087.7	+	9	1540	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	FBXO7_ENST00000397426.1_Missense_Mutation_p.E291K|FBXO7_ENST00000382058.3_Missense_Mutation_p.E326K	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	405					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAAAGAAAAGAATCCCCGAA	0.438000													7	150					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179434276	179434276	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179434276A>T	ENST00000589042.1	-	326	76807	c.76583T>A	c.(76582-76584)tTa>tAa	p.L25528*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L22960*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.L23887*|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.L16463*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.L16655*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.L16588*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23887							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)			AAATAACCTTAAGGAGCCACC	0.398000													7	22					0	0	0.278610	0	0
FAT2	2196	broad.mit.edu	37	5	150947339	150947339	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:150947339C>G	ENST00000261800.5	-	1	1166	c.1154G>C	c.(1153-1155)aGa>aCa	p.R385T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	385	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGTGACTCTCACCATCAC	0.493000													7	64					0	0	0.335167	0	0
SLC18A1	6570	broad.mit.edu	37	8	20031931	20031931	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:20031931G>T	ENST00000440926.1	-	6	1042	c.572C>A	c.(571-573)aCt>aAt	p.T191N	SLC18A1_ENST00000437980.1_Missense_Mutation_p.T191N|SLC18A1_ENST00000276373.5_Missense_Mutation_p.T191N|SLC18A1_ENST00000519026.1_Missense_Mutation_p.T191N|SLC18A1_ENST00000381608.4_Missense_Mutation_p.T191N|SLC18A1_ENST00000265808.7_Missense_Mutation_p.T191N|SLC18A1_ENST00000524272.1_5'UTR	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	191					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AAAGAGTAGAGTATAGGTCCC	0.483000													13	39					6.72482e-11	9.44731e-11	0.479597	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147230	26147230	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:26147230C>A	ENST00000331351.5	+	2	1424	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	344					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAAACTGGCTCCAGTATTTCC	0.542000													31	229					8.91981e-05	0.000101777	0.779181	1	0
ABCC12	94160	broad.mit.edu	37	16	48139106	48139106	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:48139106A>C	ENST00000311303.3	-	19	2962	c.2617T>G	c.(2617-2619)Ttc>Gtc	p.F873V	ABCC12_ENST00000448542.1_Missense_Mutation_p.F870V|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	873	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTCTTGGTGAAGACGAAGCCT	0.537000													24	149					0	0	0.779181	0	0
TSIX	9383	broad.mit.edu	37	X	73044544	73044544	+	RNA	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:73044544C>A	ENST00000604411.1	+	0	32505				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CATTCGCAAGCTGAATTAAGT	0.323000													7	11					0.00307968	0.00331825	0.278610	1	0
SYNGR4	23546	broad.mit.edu	37	19	48878966	48878966	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:48878966C>T	ENST00000344846.2	+	4	678	c.428C>T	c.(427-429)gCc>gTc	p.A143V	SYNGR4_ENST00000595322.1_Intron|SYNGR4_ENST00000601610.1_Missense_Mutation_p.A94V	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	143	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCAGCAGTGCCCAGGCAGCC	0.612000													19	131					0	0	0.624587	0	0
GRHPR	9380	broad.mit.edu	37	9	37432011	37432011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:37432011C>A	ENST00000607784.1	+	8	746	c.741C>A	c.(739-741)gaC>gaA	p.D247E	GRHPR_ENST00000318158.6_Missense_Mutation_p.D247E			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	247					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CCAGGGGCGACGTCGTAAACC	0.562000													15	62					2.94398e-08	3.88606e-08	0.557998	1	0
ESPNL	339768	broad.mit.edu	37	2	239038894	239038894	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:239038894G>C	ENST00000343063.3	+	9	1802	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.Q469H|ESPNL_ENST00000409506.1_Missense_Mutation_p.Q145H	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	513										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)		TGGAGAAGCAGATTGCAGACC	0.647000													3	14					0	0	0.115264	0	0
UNC5D	137970	broad.mit.edu	37	8	35542267	35542267	+	Splice_Site	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:35542267G>C	ENST00000453357.2	+	6	960	c.904_splice	c.e6+1	p.V302_splice	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Splice_Site_p.V307_splice|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Splice_Site_p.V307_splice			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	307	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCTTTGTCCTGGTGAGATATA	0.463000													10	63					0	0	0.335167	0	0
CRELD2	79174	broad.mit.edu	37	22	50315238	50315238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:50315238C>T	ENST00000404488.3	+	5	556	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	CRELD2_ENST00000328268.4_Nonsense_Mutation_p.Q141*|CRELD2_ENST00000407217.3_Nonsense_Mutation_p.Q141*|CRELD2_ENST00000403427.3_Nonsense_Mutation_p.Q141*|CRELD2_ENST00000444954.1_3'UTR	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	141	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TAAAGCATGCCAGGGCGGATC	0.637000													5	52					0	0	0.217242	0	0
ACKR3	57007	broad.mit.edu	37	2	237489698	237489698	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:237489698G>T	ENST00000272928.3	+	2	900	c.590G>T	c.(589-591)cGg>cTg	p.R197L		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		ACCTACTGCCGGTCCTTCTAC	0.577000													24	162					3.17567e-06	3.84231e-06	0.729181	1	0
TTC23	64927	broad.mit.edu	37	15	99758904	99758904	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:99758904G>A	ENST00000394132.2	-	8	1287	c.470C>T	c.(469-471)gCa>gTa	p.A157V	TTC23_ENST00000262074.4_Missense_Mutation_p.A157V|TTC23_ENST00000558663.1_Missense_Mutation_p.A157V|TTC23_ENST00000394129.2_Missense_Mutation_p.A157V|TTC23_ENST00000394130.1_Missense_Mutation_p.A157V|TTC23_ENST00000394135.3_Missense_Mutation_p.A157V|TTC23_ENST00000558613.1_Missense_Mutation_p.A157V|TTC23_ENST00000394136.1_Missense_Mutation_p.A157V			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	157							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAAATTCTCTGCAGCTTCCTT	0.393000													36	206					0	0	0.864702	0	0
OR6C2	341416	broad.mit.edu	37	12	55846349	55846349	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:55846349T>C	ENST00000322678.1	+	1	352	c.352T>C	c.(352-354)Tat>Cat	p.Y118H	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGCCATGTCCTATGACCGCTA	0.433000													4	124					0	0	0.150653	0	0
SMG1	23049	broad.mit.edu	37	16	18846284	18846284	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:18846284G>A	ENST00000446231.2	-	49	8672	c.8260C>T	c.(8260-8262)Cat>Tat	p.H2754Y	SMG1_ENST00000389467.3_Missense_Mutation_p.H2754Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2754					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCATTCTCATGAAGGAAAACT	0.383000													42	127					0	0	0.859065	0	0
PCDH15	65217	broad.mit.edu	37	10	55626402	55626402	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:55626402G>T	ENST00000373965.2	-	28	4132	c.3738_splice	c.e28+1	p.L1246_splice	PCDH15_ENST00000395445.1_Splice_Site_p.L1246_splice|PCDH15_ENST00000414778.1_Splice_Site_p.L1244_splice|PCDH15_ENST00000395433.1_Splice_Site_p.L1217_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Splice_Site_p.L1239_splice|PCDH15_ENST00000395432.2_Splice_Site_p.L1202_splice|PCDH15_ENST00000409834.1_Splice_Site_p.L850_splice|PCDH15_ENST00000320301.6_Splice_Site_p.L1239_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Splice_Site_p.L1239_splice|PCDH15_ENST00000361849.3_Splice_Site_p.L1239_splice|PCDH15_ENST00000437009.1_Splice_Site_p.L1168_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1239	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCTACTTACGAGTACATCGG	0.398000										HNSCC(58;0.16)			7	32					0.00198382	0.00215265	0.248553	1	0
INSL5	10022	broad.mit.edu	37	1	67266816	67266816	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:67266816C>A	ENST00000304526.2	-	1	123	c.89G>T	c.(88-90)gGg>gTg	p.G30V		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	30						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						GTATTCTAGCCCACAGAGTCT	0.478000													27	67					2.48779e-11	3.52438e-11	0.693898	1	0
MKI67	4288	broad.mit.edu	37	10	129897489	129897489	+	Silent	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:129897489T>G	ENST00000368654.3	-	15	10111	c.9736A>C	c.(9736-9738)Aga>Cga	p.R3246R	MKI67_ENST00000368653.3_Silent_p.R2886R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3246				R -> T (in Ref. 1; CAA46519/CAA46520).	cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCTGGTTCTTATTTTCTTG	0.338000													7	46					0	0	0.387290	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46925764	46925764	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:46925764C>G	ENST00000258947.3	+	4	465	c.364C>G	c.(364-366)Cct>Gct	p.P122A	CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50A|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122A|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146A|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143A	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	122					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGCAAGTATTCCTTTCCAATT	0.448000													18	126					0	0	0.654019	0	0
CEACAM4	1089	broad.mit.edu	37	19	42125734	42125734	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:42125734T>A	ENST00000221954.2	-	7	814	c.704A>T	c.(703-705)cAg>cTg	p.Q235L		NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	235						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GTGGTCGATCTGGCAGTAAAT	0.527000													18	136					0	0	0.608945	0	0
HDAC4	9759	broad.mit.edu	37	2	240036854	240036854	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:240036854C>A	ENST00000345617.3	-	13	2462	c.1671G>T	c.(1669-1671)caG>caT	p.Q557H	HDAC4_ENST00000543185.1_Missense_Mutation_p.Q141H|HDAC4_ENST00000541256.1_Missense_Mutation_p.Q531H	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	557					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTGCTTCACCTGCACGCCGG	0.687000													31	133					3.21399e-22	5.16141e-22	0.804634	1	0
ZNF461	92283	broad.mit.edu	37	19	37129869	37129869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:37129869G>A	ENST00000588268.1	-	6	1605	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	ZNF461_ENST00000360357.4_Nonsense_Mutation_p.Q437*|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAATTCTCTGATGTCTTTTG	0.393000													3	36					0	0	0.115264	0	0
POLR3F	10621	broad.mit.edu	37	20	18449658	18449658	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:18449658A>G	ENST00000377603.4	+	2	513	c.133A>G	c.(133-135)Ata>Gta	p.I45V	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	45				HIEAQQRAVA -> QYRSPAAGSS (in Ref. 1; AAB63677).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						AATGCCTCATATAGAAGCCCA	0.378000													20	76					0	0	0.624587	0	0
CACHD1	57685	broad.mit.edu	37	1	65098301	65098301	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:65098301G>C	ENST00000371073.2	+	6	664	c.664G>C	c.(664-666)Gtc>Ctc	p.V222L	CACHD1_ENST00000495994.1_Intron|CACHD1_ENST00000290039.5_Missense_Mutation_p.V171L			Q5VU97	CAHD1_HUMAN	cache domain containing 1	222					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGTCTCTACAGTCCGGCCGCA	0.522000													11	82					0	0	0.387290	0	0
MAN1A1	4121	broad.mit.edu	37	6	119670138	119670138	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:119670138C>A	ENST00000368468.3	-	2	534	c.93G>T	c.(91-93)tcG>tcT	p.S31S	MAN1A1_ENST00000368466.2_Silent_p.S31S	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	31				KGSGPAALRLTEKFVLLLV -> MNSNFITFDLKMSLLPSN L (in Ref. 2; CAA52831).	post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CGGCGGGGCCCGACCCCTTCC	0.721000													7	19					0.00307968	0.00331825	0.278610	1	0
ASB4	51666	broad.mit.edu	37	7	95115440	95115440	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:95115440G>A	ENST00000325885.5	+	1	228	c.157G>A	c.(157-159)Gag>Aag	p.E53K	ASB4_ENST00000428113.1_Missense_Mutation_p.E53K|ASB4_ENST00000257621.4_Intron	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	53					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGTCGAAGATGAGAATATGGT	0.333000													12	78					0	0	0.520397	0	0
TNKS2	80351	broad.mit.edu	37	10	93572948	93572948	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:93572948G>C	ENST00000371627.4	+	2	787	c.408G>C	c.(406-408)aaG>aaC	p.K136N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	136					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.K136N(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTAAAGGAAAGATTGATGTTT	0.358000													7	35					0	0	0.278610	0	0
OIT3	170392	broad.mit.edu	37	10	74692243	74692243	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:74692243G>C	ENST00000334011.5	+	9	1817	c.1599G>C	c.(1597-1599)acG>acC	p.T533T		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	533						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGGGCCAGACGCTAACAGGCG	0.642000													8	52					0	0	0.278610	0	0
EML1	2009	broad.mit.edu	37	14	100363537	100363537	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:100363537G>A	ENST00000262233.6	+	7	872	c.733G>A	c.(733-735)Gag>Aag	p.E245K	EML1_ENST00000334192.4_Missense_Mutation_p.E264K|EML1_ENST00000327921.9_Missense_Mutation_p.E233K	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	245						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCGACGGGAGAGACCGTCTA	0.488000													19	71					0	0	0.592651	0	0
RAB11B	9230	broad.mit.edu	37	19	8468397	8468397	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:8468397G>T	ENST00000328024.6	+	5	830	c.612G>T	c.(610-612)acG>acT	p.T204T		NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	204					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						CGCCCACCACGGACGGACAGA	0.667000													22	90					4.87955e-14	7.21009e-14	0.693898	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156634496	156634496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:156634496G>T	ENST00000296518.7	+	7	1542	c.1333G>T	c.(1333-1335)Gag>Tag	p.E445*	GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.E445*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.E445*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.E187*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.E445*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.E445*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.E445*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	445					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGCCCTGGAGGAGGAGAAGAA	0.532000													8	73					3.09899e-07	3.9215e-07	0.307466	1	0
SEMA5A	9037	broad.mit.edu	37	5	9044654	9044654	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:9044654G>C	ENST00000382496.5	-	22	3601	c.2936C>G	c.(2935-2937)tCc>tGc	p.S979C	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	979					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCGAGGATGGAGCTGCTCAG	0.557000													17	101					0	0	0.557998	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128201184	128201184	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:128201184C>G	ENST00000265960.3	-	12	1883	c.1551G>C	c.(1549-1551)aaG>aaC	p.K517N	MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K481N|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K517N|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K470N|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K325N|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K325N|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.K230N	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	517	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GCCCGGATTTCTTCTCCTTCT	0.557000													37	112					0	0	0.819951	0	0
STK35	140901	broad.mit.edu	37	20	2097995	2097995	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:2097995A>T	ENST00000381482.3	+	3	1847	c.1576A>T	c.(1576-1578)Aga>Tga	p.R526*	STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Nonsense_Mutation_p.R393*			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	526	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						ACTTGAAACCAGAATGGACCA	0.438000													15	79					0	0	0.500413	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													4	199					0	0	0.150653	0	0
HCFC1	3054	broad.mit.edu	37	X	153221645	153221645	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:153221645C>A	ENST00000310441.7	-	16	3819	c.2853G>T	c.(2851-2853)atG>atT	p.M951I	HCFC1_ENST00000369984.4_Missense_Mutation_p.M951I|HCFC1_ENST00000354233.3_Missense_Mutation_p.M882I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	951					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTACCTGCATGGTGATGG	0.652000													23	46					1.87028e-06	2.29089e-06	0.608945	1	0
MS4A14	84689	broad.mit.edu	37	11	60184278	60184278	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:60184278G>A	ENST00000300187.6	+	5	2114	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	MS4A14_ENST00000531787.1_Missense_Mutation_p.E501K|MS4A14_ENST00000531783.1_Missense_Mutation_p.E646K|MS4A14_ENST00000395005.2_Missense_Mutation_p.E596K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	613	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCCGGCCCAAGAGAAGAAATC	0.448000													6	44					0	0	0.278610	0	0
CERK	64781	broad.mit.edu	37	22	47107021	47107021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:47107021C>A	ENST00000216264.8	-	5	643	c.531G>T	c.(529-531)aaG>aaT	p.K177N	CERK_ENST00000541677.1_Intron	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	177	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACAGAGTCTCCTTGGCCTGAT	0.408000													6	70					0.0477658	0.0494098	0.307466	1	0
DNAH8	1769	broad.mit.edu	37	6	38820980	38820980	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:38820980G>C	ENST00000359357.3	+	39	5193	c.4939G>C	c.(4939-4941)Gcc>Ccc	p.A1647P	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1864P|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1647P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCTGTTATGGCCAAAGGTCC	0.303000													6	38					0	0	0.278610	0	0
SHF	90525	broad.mit.edu	37	15	45490969	45490969	+	Splice_Site	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:45490969C>G	ENST00000290894.8	-	2	798		c.e2+1		RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000318390.6_Splice_Site|CTD-2651B20.7_ENST00000568314.1_RNA	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGCCTACTTACGGGGCGAGGT	0.557000											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	158					0	0	0.779181	0	0
ARID1A	8289	broad.mit.edu	37	1	27101453	27101453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:27101453C>T	ENST00000324856.7	+	18	5106	c.4735C>T	c.(4735-4737)Cag>Tag	p.Q1579*	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1196*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1579					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCAAGCATGCAGAATCACAT	0.612000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	70					0	0	0.307466	0	0
ESYT3	83850	broad.mit.edu	37	3	138191328	138191328	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:138191328G>A	ENST00000389567.4	+	18	2050	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	622						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACCTCAGGAAGAAGGCCCTAC	0.557000													29	147					0	0	0.760397	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998506	72998506	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:72998506G>C	ENST00000322038.5	+	2	1593	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	TSHZ1_ENST00000580243.1_Missense_Mutation_p.D382H	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	382						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D337H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTCAGCCAAGGATCAGAAAGC	0.632000													13	64					0	0	0.435327	0	0
BEND4	389206	broad.mit.edu	37	4	42145824	42145824	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:42145824G>T	ENST00000502486.1	-	3	1254	c.675C>A	c.(673-675)acC>acA	p.T225T	BEND4_ENST00000504360.1_Silent_p.T221T	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	225										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CATTGTCTGAGGTCTGACTGT	0.433000													5	23					0.0215528	0.0224881	0.217242	1	0
GPNMB	10457	broad.mit.edu	37	7	23296525	23296525	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:23296525G>T	ENST00000258733.4	+	4	677	c.382G>T	c.(382-384)Gct>Tct	p.A128S	GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.A128S|GPNMB_ENST00000539136.1_Missense_Mutation_p.A29S|GPNMB_ENST00000381990.2_Missense_Mutation_p.A128S			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	128					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TGGTTTATCTGCTGATCCGTA	0.463000													10	18					2.17888e-05	2.55188e-05	0.335167	1	0
KIF26A	26153	broad.mit.edu	37	14	104643064	104643064	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:104643064G>T	ENST00000315264.7	+	11	3900	c.3522G>T	c.(3520-3522)ctG>ctT	p.L1174L	KIF26A_ENST00000423312.2_Silent_p.L1313L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1313					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCACCACGCTGGGTGTGACAA	0.701000													6	13					0.00116845	0.00127944	0.217242	1	0
TTN	7273	broad.mit.edu	37	2	179499898	179499898	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179499898G>T	ENST00000589042.1	-	228	42242	c.42018C>A	c.(42016-42018)ccC>ccA	p.P14006P	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P11438P|TTN_ENST00000591111.1_Silent_p.P12365P|TTN_ENST00000460472.2_Silent_p.P4941P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.P5133P|TTN_ENST00000359218.5_Silent_p.P5066P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12365	Ig-like 95.						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)			TCACAGGTGAGGGCCTTAGAA	0.358000													16	67					6.94344e-10	9.59427e-10	0.539581	1	0
PALD1	27143	broad.mit.edu	37	10	72289816	72289816	+	Missense_Mutation	SNP	G	G	A	rs143550137		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:72289816G>A	ENST00000263563.6	+	4	728	c.460G>A	c.(460-462)Gga>Aga	p.G154R		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CCAGAAGGACGGACATAGGGT	0.637000													8	78					0	0	0.335167	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76033706	76033706	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:76033706G>T	ENST00000275560.3	-	2	398	c.51C>A	c.(49-51)cgC>cgA	p.R17R	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	17						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCCCCAGCGCTTCTCAT	0.582000													11	85					5.50884e-06	6.57544e-06	0.411799	1	0
TPI1	7167	broad.mit.edu	37	12	6976726	6976726	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:6976726G>C	ENST00000229270.4	+	1	444	c.107G>C	c.(106-108)aGc>aCc	p.S36T	TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	0					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CTCGGCTCCAGCGCCATGGCG	0.647000													4	19					0	0	0.150653	0	0
KLHDC4	54758	broad.mit.edu	37	16	87790066	87790066	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:87790066G>A	ENST00000270583.5	-	3	267	c.209C>T	c.(208-210)tCg>tTg	p.S70L	KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Missense_Mutation_p.S70L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	70										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AGGATGAACCGAGAGGGAGGC	0.453000													6	40					0	0	0.307466	0	0
NBN	4683	broad.mit.edu	37	8	90994959	90994959	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:90994959T>A	ENST00000265433.3	-	2	316	c.162A>T	c.(160-162)gtA>gtT	p.V54V	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	54	FHA.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CCAGGTTGGTTACAGAAAAGT	0.383000								Homologous recombination					11	122					0	0	0.387290	0	0
KRT78	196374	broad.mit.edu	37	12	53241721	53241721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:53241721C>A	ENST00000359499.4	-	2	250	c.239G>T	c.(238-240)tGc>tTc	p.C80F	KRT78_ENST00000304620.4_Missense_Mutation_p.C190F			Q8N1N4	K2C78_HUMAN	keratin 78	190	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						CTGGTCCCGGCAGGCCTTCAA	0.597000													21	77					5.35356e-11	7.55242e-11	0.639603	1	0
SSTR4	6754	broad.mit.edu	37	20	23016274	23016274	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:23016274T>A	ENST00000255008.3	+	1	218	c.154T>A	c.(154-156)Tgc>Agc	p.C52S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	52					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGCTATCCAGTGCATCTACGC	0.677000													17	88					0	0	0.557998	0	0
SOWAHA	134548	broad.mit.edu	37	5	132149881	132149881	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:132149881G>C	ENST00000378693.2	+	1	849	c.568G>C	c.(568-570)Gag>Cag	p.E190Q		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	190	Pro-rich.																GGCCCCTTCTGAGGCGGCATC	0.741000													3	23					0	0	0.150653	0	0
SLC41A3	54946	broad.mit.edu	37	3	125786993	125786993	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:125786993G>A	ENST00000360370.4	-	2	113	c.70C>T	c.(70-72)Cac>Tac	p.H24Y	SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.H24Y|SLC41A3_ENST00000315891.6_Missense_Mutation_p.H24Y			Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	24						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CTGAGGGGGTGAGGAAGCCCC	0.662000													10	123					0	0	0.435327	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776929	25776929	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:25776929C>A	ENST00000377905.4	+	9	1213	c.1094C>A	c.(1093-1095)aCc>aAc	p.T365N	SLC17A4_ENST00000439485.2_Missense_Mutation_p.T135N|SLC17A4_ENST00000397076.2_Missense_Mutation_p.T135N	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	365					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGACTCATCACCATCAGGAAA	0.483000													8	83					5.18039e-06	6.22757e-06	0.278610	1	0
NGFR	4804	broad.mit.edu	37	17	47587789	47587789	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:47587789G>T	ENST00000172229.3	+	4	709	c.584G>T	c.(583-585)tGg>tTg	p.W195L	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.W101L	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	195					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCTGGCCGTTGGATTACACGG	0.607000													23	160					3.28513e-13	4.7869e-13	0.667858	1	0
ARID2	196528	broad.mit.edu	37	12	46243558	46243558	+	Splice_Site	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:46243558A>T	ENST00000334344.6	+	14	2083	c.1912_splice	c.e14+1	p.A637_splice	ARID2_ENST00000422737.1_Splice_Site_p.A488_splice|ARID2_ENST00000444670.1_Splice_Site_p.A247_splice|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	637					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTTCACCTGCAGGTGTTAATT	0.308000			"""N, S, F"""		hepatocellular carcinoma								42	141					0	0	0.834066	0	0
KCMF1	56888	broad.mit.edu	37	2	85280404	85280404	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:85280404G>T	ENST00000409785.3	+	7	1377	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	340						intracellular	ligase activity|zinc ion binding			ovary(3)	3						AGATGAGGATGATCGGGGGGA	0.463000													7	67					3.09899e-07	3.9215e-07	0.307466	1	0
MUC16	94025	broad.mit.edu	37	19	9049087	9049087	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:9049087G>T	ENST00000397910.4	-	5	32747	c.32544C>A	c.(32542-32544)gaC>gaA	p.D10848E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10850	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						AAGGTGTGGTGTCTGATTTAC	0.488000													20	104					2.52088e-20	3.99871e-20	0.639603	1	0
VWF	7450	broad.mit.edu	37	12	6128036	6128036	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:6128036C>A	ENST00000261405.5	-	28	4802	c.4548G>T	c.(4546-4548)agG>agT	p.R1516S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1516	VWFA 2.				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)	ACTCCTTGCTCCTGTTGAAGT	0.562000													7	30					2.17888e-05	2.55188e-05	0.335167	1	0
SLC25A12	8604	broad.mit.edu	37	2	172683376	172683376	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:172683376C>G	ENST00000422440.2	-	9	899	c.862G>C	c.(862-864)Gat>Cat	p.D288H	SLC25A12_ENST00000392592.4_Missense_Mutation_p.D181H	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	288					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CTCTCAATATCTGCCAAAGTC	0.393000													6	41					0	0	0.307466	0	0
PRKCA	5578	broad.mit.edu	37	17	64685069	64685069	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:64685069G>T	ENST00000413366.3	+	8	848	c.821_splice	c.e8-1	p.W274_splice		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	274					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TCCTTGAAAGGTACAAGTTGC	0.493000													6	29					0.0293803	0.0305795	0.248553	1	0
TRIM29	23650	broad.mit.edu	37	11	120008478	120008478	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:120008478C>G	ENST00000341846.5	-	1	683	c.262G>C	c.(262-264)Gac>Cac	p.D88H		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	88					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GAGTTCTTGTCGTCCCCGGAC	0.622000													66	322					0	0	0.870114	0	0
FOLH1	2346	broad.mit.edu	37	11	49207394	49207394	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:49207394T>A	ENST00000340334.7	-	7	976	c.608A>T	c.(607-609)cAg>cTg	p.Q203L	FOLH1_ENST00000356696.3_Missense_Mutation_p.Q218L|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.Q203L|FOLH1_ENST00000256999.2_Missense_Mutation_p.Q218L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	218					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)	CCCTGCCAGCTGGGCATTTTT	0.418000													9	60					0	0	0.335167	0	0
EXOG	9941	broad.mit.edu	37	3	38548421	38548421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:38548421C>T	ENST00000287675.5	+	5	703	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	EXOG_ENST00000358249.2_Nonsense_Mutation_p.Q63*|EXOG_ENST00000422077.2_Nonsense_Mutation_p.Q153*	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	203						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GACCTTACCTCAGACTAGAGG	0.353000													15	63					0	0	0.575678	0	0
DAPK3	1613	broad.mit.edu	37	19	3959178	3959178	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:3959178G>A	ENST00000545797.2	-	9	1529	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	DAPK3_ENST00000301264.3_Missense_Mutation_p.S429F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	429	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		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)		GCGCATCTCGGAGGCTACTTG	0.711000													3	5					0	0	0.115264	0	0
CHST6	4166	broad.mit.edu	37	16	75513271	75513271	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:75513271C>A	ENST00000332272.4	-	3	635	c.456G>T	c.(454-456)ctG>ctT	p.L152L	CHST6_ENST00000390664.2_Silent_p.L152L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	152			L -> P (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCGCGCGCACAGTGGCTTGC	0.677000													15	57					3.01185e-09	4.07799e-09	0.667858	1	0
SPAG9	9043	broad.mit.edu	37	17	49067073	49067073	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:49067073C>G	ENST00000262013.7	-	21	2986	c.2778G>C	c.(2776-2778)caG>caC	p.Q926H	SPAG9_ENST00000505279.1_Missense_Mutation_p.Q916H|SPAG9_ENST00000357122.4_Missense_Mutation_p.Q912H|SPAG9_ENST00000510283.1_Missense_Mutation_p.Q769H	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	926					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTTCTGGGATCTGAACTCCCA	0.463000													6	33					0	0	0.217242	0	0
WDR78	79819	broad.mit.edu	37	1	67288118	67288118	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:67288118G>C	ENST00000371026.3	-	16	2477	c.2422C>G	c.(2422-2424)Ctg>Gtg	p.L808V	WDR78_ENST00000431318.1_Missense_Mutation_p.L521V	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	808										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTCCTACCAGAAGGCAATCT	0.393000													15	99					0	0	0.592651	0	0
RELN	5649	broad.mit.edu	37	7	103368630	103368630	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:103368630A>T	ENST00000428762.1	-	7	840	c.681T>A	c.(679-681)acT>acA	p.T227T	RELN_ENST00000343529.5_Silent_p.T227T|RELN_ENST00000424685.2_Silent_p.T227T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	227					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)		ACTGTTCTCCAGTCTCACAGT	0.463000													13	74					0	0	0.500413	0	0
HTR5A	3361	broad.mit.edu	37	7	154862762	154862762	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:154862762G>A	ENST00000287907.2	+	1	729	c.153G>A	c.(151-153)gtG>gtA	p.V51V	AC093726.4_ENST00000543018.1_Silent_p.A84A|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_Silent_p.A84A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	51						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCTTTCTGGTGGCGGCGACGT	0.642000													5	50					0	0	0.184627	0	0
SLC6A7	6534	broad.mit.edu	37	5	149584116	149584116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:149584116C>A	ENST00000230671.2	+	11	1725	c.1354C>A	c.(1354-1356)Ctt>Att	p.L452I	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L452I	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	452						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTGGCTGGTCCTTCTGGATGA	0.577000													15	88					1.00905e-13	1.48058e-13	0.575678	1	0
SNTG2	54221	broad.mit.edu	37	2	1241768	1241768	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:1241768C>G	ENST00000308624.5	+	10	957	c.828C>G	c.(826-828)atC>atG	p.I276M	SNTG2_ENST00000407292.1_Missense_Mutation_p.I149M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	276					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGCCAACATCAGGGAGCTGA	0.547000													4	26					0	0	0.184627	0	0
AGPAT1	10554	broad.mit.edu	37	6	32139095	32139095	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:32139095C>A	ENST00000395499.1	-	2	758	c.179G>T	c.(178-180)gGa>gTa	p.G60V	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G60V|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G60V|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G60V|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G60V|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G60V|AGPAT1_ENST00000412465.2_5'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	60					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GACGTTGCGTCCTCGCACGGC	0.562000													32	133					1.15505e-17	1.79001e-17	0.847076	1	0
NINL	22981	broad.mit.edu	37	20	25472068	25472068	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:25472068C>A	ENST00000278886.6	-	11	1477	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H	NINL_ENST00000422516.1_Missense_Mutation_p.Q468H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	468					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCGCGGCCCTCTGCCTGTGGG	0.692000													14	110					2.32078e-09	3.16522e-09	0.479597	1	0
MC2R	4158	broad.mit.edu	37	18	13884688	13884688	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:13884688G>C	ENST00000327606.3	-	2	1010	c.830C>G	c.(829-831)gCc>gGc	p.A277G		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	277					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCTCCGGAAGGCATATATGAA	0.498000													8	107					0	0	0.307466	0	0
LY9	4063	broad.mit.edu	37	1	160786594	160786594	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:160786594C>T	ENST00000263285.5	+	5	1313	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I	LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.T80I|LY9_ENST00000368035.1_Missense_Mutation_p.T80I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	428	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCACATGCACAGCCAGCAAC	0.507000													21	132					0	0	0.667858	0	0
ABCB5	340273	broad.mit.edu	37	7	20762707	20762707	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:20762707C>T	ENST00000404938.2	+	21	3142	c.2490C>T	c.(2488-2490)tcC>tcT	p.S830S	ABCB5_ENST00000258738.6_Silent_p.S385S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	385					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTATCATTTCCTTTATATATG	0.408000													5	85					0	0	0.184627	0	0
TSIX	9383	broad.mit.edu	37	X	73046470	73046470	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:73046470G>T	ENST00000604411.1	+	0	34431				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAGAGGTAGGGTTTAGGGTTC	0.418000													30	61					5.8336e-16	8.86097e-16	0.779181	1	0
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642000													4	54					0	0	0.217242	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386669	56386669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:56386669G>A	ENST00000355701.3	-	22	4834	c.3964C>T	c.(3964-3966)Cag>Tag	p.Q1322*	BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.Q1322*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.Q1262*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1322						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGAACTGCTGGAGGGGCAGC	0.592000													18	91					0	0	0.575678	0	0
FAM110B	90362	broad.mit.edu	37	8	59058960	59058960	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:59058960C>A	ENST00000361488.3	+	5	1051	c.171C>A	c.(169-171)gaC>gaA	p.D57E	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	57						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TGGAGGCCGACAAGGCCAAGT	0.677000													5	55					0.014758	0.0155042	0.184627	1	0
PRLH	51052	broad.mit.edu	37	2	238475749	238475749	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:238475749G>A	ENST00000165524.1	+	2	195	c.195G>A	c.(193-195)aaG>aaA	p.K65K		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	65						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		ACGTCCCCAAGCCTGGCCTGC	0.652000													14	69					0	0	0.457914	0	0
OR1J4	26219	broad.mit.edu	37	9	125282162	125282162	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:125282162T>A	ENST00000340750.1	+	1	743	c.743T>A	c.(742-744)gTg>gAg	p.V248E		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTCTCTGTGGTGTCTCTGTAT	0.483000													14	50					0	0	0.500413	0	0
SLC44A5	204962	broad.mit.edu	37	1	75716897	75716897	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:75716897G>T	ENST00000370855.5	-	7	456	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	SLC44A5_ENST00000370859.3_Missense_Mutation_p.Q115K|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	115						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCCTTACCTGTGTGGTAGGG	0.428000													6	68					3.09899e-07	3.9215e-07	0.307466	1	0
MYOC	4653	broad.mit.edu	37	1	171621514	171621514	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:171621514T>A	ENST00000037502.5	-	1	297	c.238A>T	c.(238-240)Acc>Tcc	p.T80S		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	80					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGCGTTGGGTGCTGCTGTCT	0.577000													10	104					0	0	0.411799	0	0
AHCTF1	25909	broad.mit.edu	37	1	247024452	247024452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:247024452C>A	ENST00000366508.1	-	29	4122	c.3986G>T	c.(3985-3987)gGg>gTg	p.G1329V	AHCTF1_ENST00000391829.2_Missense_Mutation_p.G1294V|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1303V|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1294	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTTTGTGACCCCTCATCCAT	0.453000													6	43					0.000442599	0.000492655	0.335167	1	0
RELN	5649	broad.mit.edu	37	7	103292213	103292213	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:103292213T>A	ENST00000428762.1	-	15	1946	c.1787A>T	c.(1786-1788)aAc>aTc	p.N596I	RELN_ENST00000343529.5_Missense_Mutation_p.N596I|RELN_ENST00000424685.2_Missense_Mutation_p.N596I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	596					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)		GCGCCCATGGTTGGTAGAAAA	0.468000													5	28					0	0	0.217242	0	0
WNT9A	7483	broad.mit.edu	37	1	228109291	228109291	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:228109291C>G	ENST00000272164.5	-	4	1036	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	342					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ACCAACGCACCTGGCACTGGC	0.642000													12	59					0	0	0.435327	0	0
MUC17	140453	broad.mit.edu	37	7	100677500	100677500	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:100677500C>T	ENST00000306151.4	+	3	2867	c.2803C>T	c.(2803-2805)Ccg>Tcg	p.P935S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	935	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTAGTCAG	0.517000													43	493					0	0	0.853193	0	0
COL22A1	169044	broad.mit.edu	37	8	139611077	139611077	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:139611077C>A	ENST00000303045.6	-	61	4696	c.4250G>T	c.(4249-4251)gGa>gTa	p.G1417V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1397V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1417	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGGATTCCAGGGTCCCC	0.597000										HNSCC(7;0.00092)			10	58					0.000978159	0.00107597	0.387290	1	0
PDE8B	8622	broad.mit.edu	37	5	76645274	76645274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:76645274G>T	ENST00000264917.5	+	8	952	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.G303C|PDE8B_ENST00000342343.4_Missense_Mutation_p.G283C	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	303	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AAGGATGATGGGCTACCACAA	0.493000													6	81					0.0381472	0.0395331	0.278610	1	0
CHMP7	91782	broad.mit.edu	37	8	23117812	23117812	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:23117812G>A	ENST00000397677.1	+	10	1924	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	CHMP7_ENST00000313219.7_Missense_Mutation_p.E426K	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	426					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCTGAACTTGAGAAACTGTC	0.502000													24	123					0	0	0.740014	0	0
TGM2	7052	broad.mit.edu	37	20	36770521	36770521	+	Missense_Mutation	SNP	C	C	T	rs138412064	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:36770521C>T	ENST00000361475.2	-	7	1113	c.940G>A	c.(940-942)Gag>Aag	p.E314K	TGM2_ENST00000536724.1_Missense_Mutation_p.E254K|TGM2_ENST00000536701.1_Missense_Mutation_p.E233K	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	314					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGGAAGTACTCGATGAGAAGG	0.592000													36	166					0	0	0.834066	0	0
ABHD14A	25864	broad.mit.edu	37	3	52014483	52014483	+	Missense_Mutation	SNP	C	C	T	rs147658919		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:52014483C>T	ENST00000273596.3	+	4	540	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ACY1_ENST00000458031.2_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	158						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCGCTGCGGGACCTGGA	0.627000													9	87					0	0	0.335167	0	0
KDM5D	8284	broad.mit.edu	37	Y	21871585	21871585	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrY:21871585C>A	ENST00000541639.1	-	21	3074	c.2787G>T	c.(2785-2787)ctG>ctT	p.L929L	KDM5D_ENST00000317961.4_Silent_p.L898L|KDM5D_ENST00000382806.2_Silent_p.L841L	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	898					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CCTCTACACCCAGCTGCTGCC	0.617000													4	15					0.00909568	0.00960353	0.150653	1	0
GPSM1	26086	broad.mit.edu	37	9	139250911	139250911	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:139250911G>A	ENST00000440944.1	+	13	1950	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	GPSM1_ENST00000429455.1_Missense_Mutation_p.R68Q|GPSM1_ENST00000392944.1_Missense_Mutation_p.R68Q	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	577					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCGGGGCTGCGAATCACCCAC	0.682000													11	39					0	0	0.411799	0	0
EDIL3	10085	broad.mit.edu	37	5	83362397	83362397	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:83362397G>T	ENST00000296591.5	-	7	1098	c.680C>A	c.(679-681)aCt>aAt	p.T227N	EDIL3_ENST00000380138.3_Missense_Mutation_p.T217N|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	227	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AATCACACCAGTAACTCTCAT	0.358000													3	69					0.184627	0.187411	0.184627	1	0
SEMA4F	10505	broad.mit.edu	37	2	74901709	74901709	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:74901709G>T	ENST00000357877.2	+	8	1056	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	SEMA4F_ENST00000339773.5_Missense_Mutation_p.G148C	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	303	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCCTGAGCATGGCCGGGCCTC	0.597000													20	113					1.64293e-13	2.4044e-13	0.654019	1	0
BORA	79866	broad.mit.edu	37	13	73320852	73320852	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:73320852A>T	ENST00000390667.5	+	10	1182	c.1085A>T	c.(1084-1086)gAg>gTg	p.E362V	BORA_ENST00000377815.3_Missense_Mutation_p.E292V	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	362					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										GGTGAAGATGAGGAAGATAAA	0.438000													41	118					0	0	0.840704	0	0
TG	7038	broad.mit.edu	37	8	133912528	133912528	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:133912528G>T	ENST00000220616.4	+	15	3417	c.3377G>T	c.(3376-3378)tGt>tTt	p.C1126F	TG_ENST00000377869.1_Missense_Mutation_p.C1126F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1126	Thyroglobulin type-1 9.				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)		GGCACCTGGTGTGTGGACCCT	0.612000													7	54					4.68919e-08	6.15113e-08	0.361761	1	0
GPRC5C	55890	broad.mit.edu	37	17	72435981	72435981	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:72435981G>T	ENST00000392627.1	+	2	1327	c.201G>T	c.(199-201)tgG>tgT	p.W67C	GPRC5C_ENST00000481232.1_Missense_Mutation_p.W67C|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.W34C	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	22						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CAGGGGCCTGGGCCCAGGGCC	0.662000													23	49					1.85244e-09	2.53674e-09	0.654019	1	0
ULK1	8408	broad.mit.edu	37	12	132380370	132380370	+	Splice_Site	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:132380370G>A	ENST00000321867.4	+	3	597		c.e3+1			NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1						autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CGACTTCCAGGTAAGGCCTCT	0.612000													4	51					0	0	0.150653	0	0
TTC13	79573	broad.mit.edu	37	1	231042692	231042692	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:231042692G>A	ENST00000366661.4	-	23	2549	c.2542C>T	c.(2542-2544)Cta>Tta	p.L848L	TTC13_ENST00000414259.1_Silent_p.L795L|TTC13_ENST00000366662.4_Silent_p.L794L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	848							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCTGTGTTTAGCACCTCAATC	0.378000													5	42					0	0	0.184627	0	0
RDH12	145226	broad.mit.edu	37	14	68191904	68191904	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:68191904G>T	ENST00000551171.1	+	5	600	c.276G>T	c.(274-276)gtG>gtT	p.V92V	RDH12_ENST00000539142.1_Silent_p.V92V|RDH12_ENST00000267502.3_Silent_p.V92V	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	92					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	ACTCCCAGGTGCTGGTGCGGA	0.532000													29	100					1.39806e-14	2.08778e-14	0.729181	1	0
CACNA2D4	93589	broad.mit.edu	37	12	2024044	2024044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:2024044G>T	ENST00000382722.5	-	2	647	c.285C>A	c.(283-285)taC>taA	p.Y95*	CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.Y31*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.Y95*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.Y95*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.Y31*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.Y95*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	95						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAGAGCCTGAGTATTTGGTCA	0.577000													19	106					1.96895e-08	2.60719e-08	0.639603	1	0
DOCK5	80005	broad.mit.edu	37	8	25265501	25265501	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:25265501C>T	ENST00000276440.7	+	49	5140	c.5096C>T	c.(5095-5097)tCa>tTa	p.S1699L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1699						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCCAATAGCTCAATCTTGGAG	0.458000													5	20					0	0	0.217242	0	0
CCDC181	57821	broad.mit.edu	37	1	169390839	169390839	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:169390839T>A	ENST00000545005.1	-	4	1337	c.830A>T	c.(829-831)cAt>cTt	p.H277L	CCDC181_ENST00000367805.3_Missense_Mutation_p.H277L|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.H277L					coiled-coil domain containing 181																		AGTGACAGCATGAATCTTTGC	0.473000													24	126					0	0	0.667858	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627666	43627666	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:43627666A>G	ENST00000332857.6	-	4	1049	c.1021T>C	c.(1021-1023)Tgg>Cgg	p.W341R		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTTTCTTCCCAAATGTTGACC	0.423000													50	197					0	0	0.870114	0	0
URB2	9816	broad.mit.edu	37	1	229787045	229787045	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:229787045C>T	ENST00000258243.2	+	8	4349	c.4213C>T	c.(4213-4215)Cgg>Tgg	p.R1405W		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1405						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTCAGTTATGCGGGAAGGGCG	0.403000													7	39					0	0	0.248553	0	0
CDX4	1046	broad.mit.edu	37	X	72667095	72667095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:72667095C>A	ENST00000373514.2	+	1	6	c.6C>A	c.(4-6)taC>taA	p.Y2*		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACACGATGTACGGAAGCTGTC	0.572000													9	24					5.16669e-11	7.29491e-11	0.387290	1	0
SH2D2A	9047	broad.mit.edu	37	1	156779473	156779473	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:156779473C>G	ENST00000392306.2	-	6	863	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	SH2D2A_ENST00000368198.3_Missense_Mutation_p.E214Q|SH2D2A_ENST00000368199.3_Missense_Mutation_p.E232Q	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	232	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCCCTCTTTCTGCATC	0.627000													26	113					0	0	0.760397	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674142	3674142	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:3674142G>T	ENST00000344754.4	-	13	3459	c.3460C>A	c.(3460-3462)Cct>Act	p.P1154T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1154T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1154	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCCGACCAGGGGGGCCCACA	0.642000													8	48					3.09899e-07	3.9215e-07	0.307466	1	0
A2ML1	144568	broad.mit.edu	37	12	9020498	9020498	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:9020498G>C	ENST00000299698.7	+	30	3958	c.3778G>C	c.(3778-3780)Gag>Cag	p.E1260Q	A2ML1_ENST00000539547.1_Missense_Mutation_p.E769Q	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1104						extracellular space	endopeptidase inhibitor activity	p.E1260K(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATGCCATCTGAGGAGATCAA	0.443000													18	76					0	0	0.639603	0	0
HMCN1	83872	broad.mit.edu	37	1	186094780	186094780	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:186094780G>A	ENST00000271588.4	+	82	12773	c.12544G>A	c.(12544-12546)Gag>Aag	p.E4182K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E4182K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4182	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACGGTCAATGAGAATTCACA	0.393000													12	76					0	0	0.457914	0	0
TRRAP	8295	broad.mit.edu	37	7	98528439	98528439	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:98528439G>T	ENST00000359863.4	+	25	3786	c.3577G>T	c.(3577-3579)Gac>Tac	p.D1193Y	TRRAP_ENST00000446306.3_Missense_Mutation_p.D1192Y|TRRAP_ENST00000355540.3_Missense_Mutation_p.D1193Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1193					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCATGATGGACTTAACTGG	0.458000													9	46					1.08611e-07	1.39856e-07	0.387290	1	0
USP15	9958	broad.mit.edu	37	12	62783587	62783587	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:62783587A>G	ENST00000280377.5	+	14	1721	c.1663A>G	c.(1663-1665)Aac>Gac	p.N555D	USP15_ENST00000393654.3_Missense_Mutation_p.N530D|USP15_ENST00000353364.3_Missense_Mutation_p.N526D	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	555					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GTTTGAAATTAACATCAATAG	0.318000													17	52					0	0	0.557998	0	0
USH2A	7399	broad.mit.edu	37	1	215848598	215848598	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:215848598C>G	ENST00000366943.2	-	63	13041	c.12655G>C	c.(12655-12657)Gaa>Caa	p.E4219Q	USH2A_ENST00000307340.3_Missense_Mutation_p.E4219Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4219	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATTCCTTTCAGTGTTATAT	0.408000										HNSCC(13;0.011)			12	48					0	0	0.557998	0	0
MTA3	57504	broad.mit.edu	37	2	42909654	42909654	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:42909654A>T	ENST00000405592.1	+	10	1318	c.648A>T	c.(646-648)tcA>tcT	p.S216S	MTA3_ENST00000406911.1_Silent_p.S272S|MTA3_ENST00000407270.3_Silent_p.S272S|MTA3_ENST00000406652.1_Silent_p.S216S|MTA3_ENST00000405094.1_Silent_p.S272S			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	272	ELM2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AGGAATGGTCAGCCTCTGAAG	0.383000													4	21					0	0	0.150653	0	0
ALK	238	broad.mit.edu	37	2	29446217	29446217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:29446217G>T	ENST00000389048.3	-	20	4256	c.3350C>A	c.(3349-3351)aCc>aAc	p.T1117N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1117	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCGAATGAGGGTGATGTTTTT	0.577000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	70					1.08611e-07	1.39856e-07	0.387290	1	0
CTDSP2	10106	broad.mit.edu	37	12	58217754	58217754	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:58217754C>A	ENST00000398073.2	-	7	926	c.623G>T	c.(622-624)aGg>aTg	p.R208M	CTDSP2_ENST00000547701.1_Missense_Mutation_p.R56M|CTDSP2_ENST00000548823.1_Intron	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	208	FCP1 homology.				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TCTCAGGTCCCTCCCCAGGCG	0.607000													20	48					9.95505e-16	1.50669e-15	0.624587	1	0
MUC17	140453	broad.mit.edu	37	7	100675352	100675352	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:100675352A>T	ENST00000306151.4	+	3	719	c.655A>T	c.(655-657)Aca>Tca	p.T219S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	219	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTCCATTAACAAGTATGCC	0.478000													39	247					0	0	0.812448	0	0
PCYOX1	51449	broad.mit.edu	37	2	70504387	70504387	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:70504387G>C	ENST00000433351.2	+	6	1409	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	PCYOX1_ENST00000264441.5_3'UTR|PCYOX1_ENST00000545138.1_Missense_Mutation_p.E383Q|PCYOX1_ENST00000505044.2_Missense_Mutation_p.E384Q	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	461					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAATGGCATAGAGTGTGCAGC	0.507000													22	140					0	0	0.624587	0	0
KCTD16	57528	broad.mit.edu	37	5	143853605	143853605	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:143853605C>G	ENST00000507359.2	+	3	2306	c.1215C>G	c.(1213-1215)atC>atG	p.I405M	KCTD16_ENST00000512467.1_Missense_Mutation_p.I405M	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	405						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCTAAAAATCAAAATTCCAG	0.413000													20	78					0	0	0.667858	0	0
FBXL16	146330	broad.mit.edu	37	16	745064	745064	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:745064G>A	ENST00000397621.1	-	4	1486	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	FBXL16_ENST00000562563.1_Silent_p.I173I|FBXL16_ENST00000562585.1_5'UTR|FBXL16_ENST00000324361.5_Silent_p.I385I	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	385										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CAGTGTCCGTGATGCGTACAC	0.642000													9	41					0	0	0.411799	0	0
RP1L1	94137	broad.mit.edu	37	8	10480329	10480329	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:10480329T>A	ENST00000382483.3	-	2	606	c.383A>T	c.(382-384)cAg>cTg	p.Q128L	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	128					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATCCCGCAACTGCTGAGCAGT	0.597000													5	22					0	0	0.184627	0	0
SKP1	6500	broad.mit.edu	37	5	133494285	133494285	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:133494285G>C	ENST00000521216.1	-	5	382	c.317C>G	c.(316-318)gCt>gGt	p.A106G	SKP1_ENST00000522855.1_Splice_Site_p.A106_splice|SKP1_ENST00000522552.1_Splice_Site_p.A106_splice|SKP1_ENST00000517625.1_Splice_Site_p.A106_splice|SKP1_ENST00000353411.6_Splice_Site_p.A106_splice			P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	106	Interaction with the F-box domain of F- box proteins (By similarity).				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAGTTTGCAGCCTGTAAAGA	0.363000													6	66					0	0	0.278610	0	0
RNF43	54894	broad.mit.edu	37	17	56492903	56492903	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:56492903G>C	ENST00000584437.1	-	1	1991	c.36C>G	c.(34-36)ctC>ctG	p.L12L	RNF43_ENST00000583753.1_Silent_p.L12L|RNF43_ENST00000407977.2_Silent_p.L12L|RNF43_ENST00000577716.1_Silent_p.L12L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Silent_p.L12L|RNF43_ENST00000581868.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	12						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCAGGGCCAGAGGGCAGCCA	0.562000													10	40					0	0	0.335167	0	0
PDX1	3651	broad.mit.edu	37	13	28498512	28498512	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:28498512C>A	ENST00000381033.4	+	2	645	c.526C>A	c.(526-528)Cgg>Agg	p.R176R		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	176					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ACGGCCGCGCCGGGTGGAGCT	0.572000													17	73					1.22574e-08	1.63335e-08	0.624587	1	0
SH2D2A	9047	broad.mit.edu	37	1	156779153	156779153	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:156779153C>T	ENST00000392306.2	-	7	1013	c.874G>A	c.(874-876)Gag>Aag	p.E292K	SH2D2A_ENST00000368198.3_Missense_Mutation_p.E264K|SH2D2A_ENST00000368199.3_Missense_Mutation_p.E282K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	282	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCATCAGGCTCATTGTAGATA	0.607000													37	186					0	0	0.834066	0	0
A2M	2	broad.mit.edu	37	12	9242560	9242560	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:9242560C>T	ENST00000318602.7	-	21	2963	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	886					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAAGGCACCTCAGTCCCACAC	0.418000													20	118					0	0	0.608945	0	0
DCHS2	54798	broad.mit.edu	37	4	155256213	155256213	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:155256213G>T	ENST00000357232.3	-	8	1022	c.1023C>A	c.(1021-1023)acC>acA	p.T341T	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.T840T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	341	Cadherin 2.				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)		ACGAAAGTGTGGTAGATTCCA	0.408000													10	74					1.99824e-07	2.55744e-07	0.520397	1	0
SH3BP1	23616	broad.mit.edu	37	22	38061659	38061659	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:38061659G>A	ENST00000599616.1	+	16	1599	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	PDXP_ENST00000403251.1_Silent_p.E7E|PDXP_ENST00000215904.6_Silent_p.E224E			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	0					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCATCACGGAGAACTTCAGCA	0.662000													12	170					0	0	0.457914	0	0
TRHR	7201	broad.mit.edu	37	8	110099896	110099896	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:110099896G>A	ENST00000518632.1	+	2	506	c.155G>A	c.(154-156)aGa>aAa	p.R52K	TRHR_ENST00000311762.2_Missense_Mutation_p.R52K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	52						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTTGTCATGAGAACCAAGCAC	0.522000													9	65					0	0	0.361761	0	0
FLNC	2318	broad.mit.edu	37	7	128488648	128488648	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:128488648T>G	ENST00000325888.8	+	27	4875	c.4614T>G	c.(4612-4614)gaT>gaG	p.D1538E	FLNC_ENST00000346177.6_Missense_Mutation_p.D1538E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1538					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGCTCATGATGCCAGCAAGG	0.647000													74	450					0	0	0.870114	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563601	140563601	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140563601G>T	ENST00000361016.2	+	1	2622	c.1467G>T	c.(1465-1467)tcG>tcT	p.S489S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		489	Cadherin 5.				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)			TCACCTACTCGCTGCTGCCGC	0.667000													16	207					1.64293e-13	2.4044e-13	0.654019	1	0
AFF3	3899	broad.mit.edu	37	2	100181963	100181963	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:100181963T>A	ENST00000317233.4	-	19	3340	c.3105A>T	c.(3103-3105)acA>acT	p.T1035T	AFF3_ENST00000409236.1_Silent_p.T1035T|AFF3_ENST00000409579.1_Silent_p.T1060T|AFF3_ENST00000356421.2_Silent_p.T1060T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1035					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGAGCTCTACTGTTTCTGAAT	0.448000													9	154					0	0	0.361761	0	0
FGFR1	2260	broad.mit.edu	37	8	38272338	38272338	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:38272338G>A	ENST00000447712.2	-	14	2877	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	FGFR1_ENST00000532791.1_Missense_Mutation_p.R644W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R677W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R644W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R557W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R644W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R557W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R646W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R636W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R555W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R644W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	646	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAATGTCCCGTGCGAGGCCA	0.537000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						4	148					0	0	0.150653	0	0
BMPER	168667	broad.mit.edu	37	7	34192745	34192745	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:34192745C>A	ENST00000297161.2	+	16	2292	c.1918C>A	c.(1918-1920)Ccg>Acg	p.P640T	BMPER_ENST00000426693.1_Missense_Mutation_p.P640T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	640	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TACCTGTGGTCCGGGATGTAT	0.498000													25	194					2.85442e-18	4.45638e-18	0.750413	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401770	136401770	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:136401770G>T	ENST00000393061.3	+	2	695	c.263G>T	c.(262-264)cGt>cTt	p.R88L	ADAMTSL2_ENST00000393060.1_5'UTR|ADAMTSL2_ENST00000354484.4_5'UTR			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	494	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TTCCCAAAGCGTACCCTGGTC	0.602000													7	30					6.5536e-12	9.36308e-12	0.278610	1	0
MAPK13	5603	broad.mit.edu	37	6	36106176	36106176	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:36106176C>T	ENST00000211287.4	+	9	979	c.717C>T	c.(715-717)acC>acT	p.T239T	MAPK13_ENST00000373766.5_Intron|MAPK13_ENST00000373761.6_Silent_p.T229T|MAPK13_ENST00000373759.1_Intron	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	239	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TGAAAGTGACCGGGGTGCCTG	0.607000													4	49					0	0	0.248553	0	0
TCTEX1D2	255758	broad.mit.edu	37	3	196022936	196022936	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:196022936C>T	ENST00000325318.5	-	4	457	c.322G>A	c.(322-324)Gct>Act	p.A108T		NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	108							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CAGCGAGAAGCCATGCTAAAA	0.373000													16	62					0	0	0.639603	0	0
NRCAM	4897	broad.mit.edu	37	7	107834519	107834519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:107834519G>T	ENST00000379028.3	-	17	2197	c.1727C>A	c.(1726-1728)tCc>tAc	p.S576Y	NRCAM_ENST00000413765.2_Missense_Mutation_p.S557Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.S576Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.S557Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.S570Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.S576Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	576	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GACAGTGAGGGATAAGGTGTG	0.428000													11	80					3.07112e-06	3.71848e-06	0.387290	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													4	117					0	0	0.248553	0	0
RP11-998D10.1	0	broad.mit.edu	37	14	21501940	21501940	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:21501940G>A	ENST00000531638.1	+	2	378	c.276G>A	c.(274-276)ctG>ctA	p.L92L	NDRG2_ENST00000403829.3_Intron|RNASE13_ENST00000382951.3_3'UTR																							GGAGACAGCTGGCCTGTGGTG	0.532000													11	34					0	0	0.361761	0	0
APOA5	116519	broad.mit.edu	37	11	116660902	116660902	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:116660902C>A	ENST00000542499.1	-	4	1115	c.1043G>T	c.(1042-1044)tGg>tTg	p.W348L	APOA5_ENST00000227665.4_Missense_Mutation_p.W348L	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	348					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GATGTCTTCCCACAGGTCATC	0.612000													13	51					3.32936e-07	4.20669e-07	0.539581	1	0
CDCA7L	55536	broad.mit.edu	37	7	21943855	21943855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:21943855C>A	ENST00000406877.3	-	8	1349	c.1070G>T	c.(1069-1071)cGa>cTa	p.R357L	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R323L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R311L|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	357					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GGTCTTTTGTCGACACTGATG	0.562000													6	75					0.0215528	0.0224881	0.217242	1	0
BICC1	80114	broad.mit.edu	37	10	60577398	60577398	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:60577398T>C	ENST00000373886.3	+	19	2614	c.2610T>C	c.(2608-2610)aaT>aaC	p.N870N		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	870					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GTAACTTAAATAGCTCTTTCA	0.458000													10	68					0	0	0.335167	0	0
PKD1L2	114780	broad.mit.edu	37	16	81161599	81161599	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:81161599G>T	ENST00000533478.1	-	0	4171				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGGGCAAGAGCTTTCCTG	0.517000													3	7					0.004672	0.0049892	0.115264	1	0
FAT1	2195	broad.mit.edu	37	4	187540391	187540391	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:187540391G>A	ENST00000441802.2	-	10	7558	c.7349C>T	c.(7348-7350)tCa>tTa	p.S2450L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2450	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S2450*(2)|p.S2453*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCAGGTTTGAGAGGGTGAT	0.433000										HNSCC(5;0.00058)			40	255					0	0	0.853193	0	0
KIAA1456	57604	broad.mit.edu	37	8	12870258	12870258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:12870258G>T	ENST00000524591.2	+	4	709	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	KIAA1456_ENST00000447063.2_Missense_Mutation_p.G74W	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	74							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGACTACTGTGGGCCACTGGT	0.478000													11	73					0.457914	0.462309	0.457914	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51920073	51920073	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:51920073G>T	ENST00000353836.5	-	3	774	c.553C>A	c.(553-555)Ctc>Atc	p.L185I	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.L185I|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.L185I|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L185I|SIGLEC10_ENST00000436984.2_Intron	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	185	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGGAGGAGAGGGCAGCCCCC	0.612000													5	43					0.000157383	0.000177769	0.278610	1	0
SHC2	25759	broad.mit.edu	37	19	422374	422374	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:422374C>A	ENST00000264554.6	-	11	1391	c.1392G>T	c.(1390-1392)caG>caT	p.Q464H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	464	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGGCCACTGGTCCTCCA	0.701000													7	12					0.0293803	0.0305795	0.248553	1	0
TDGF1P3	6998	broad.mit.edu	37	X	109764348	109764348	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:109764348G>T	ENST00000602699.1	+	0	809					NR_002718.2																						CCCCCTAATTGTTAAAAGCTA	0.428000													9	36					2.27111e-07	2.89129e-07	0.411799	1	0
USH2A	7399	broad.mit.edu	37	1	216373186	216373186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:216373186G>T	ENST00000366943.2	-	17	3980	c.3594C>A	c.(3592-3594)taC>taA	p.Y1198*	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.Y1198*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.Y1198*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1198	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATGACCTTCGTAGGAAACAC	0.468000										HNSCC(13;0.011)			27	112					1.88708e-17	2.92177e-17	0.729181	1	0
APOBEC2	10930	broad.mit.edu	37	6	41029436	41029436	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:41029436G>C	ENST00000244669.2	+	2	545	c.501G>C	c.(499-501)aaG>aaC	p.K167N		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	167					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGCTCTGAAGAAGCTGAAGG	0.517000													18	73					0	0	0.575678	0	0
NRP2	8828	broad.mit.edu	37	2	206608047	206608047	+	Missense_Mutation	SNP	G	G	A	rs149849497		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:206608047G>A	ENST00000360409.3	+	9	2203	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H	NRP2_ENST00000357785.5_Missense_Mutation_p.R471H|NRP2_ENST00000540841.1_Missense_Mutation_p.R471H|NRP2_ENST00000355117.4_Missense_Mutation_p.R471H|NRP2_ENST00000417189.1_Missense_Mutation_p.R471H|NRP2_ENST00000357118.4_Missense_Mutation_p.R471H|NRP2_ENST00000272849.3_Missense_Mutation_p.R471H|NRP2_ENST00000412873.2_Missense_Mutation_p.R471H|NRP2_ENST00000540178.1_Missense_Mutation_p.R471H	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	471	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GTTAGCAGCCGCTCGGGCTGG	0.612000													4	141					0	0	0.150653	0	0
ANK2	287	broad.mit.edu	37	4	114274506	114274506	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:114274506G>T	ENST00000357077.4	+	38	4785	c.4732G>T	c.(4732-4734)Gtg>Ttg	p.V1578L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V1545L|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1545					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAAGCAGTGTGCAGAGCTC	0.428000													15	56					4.93089e-13	7.16022e-13	0.457914	1	0
OR10H2	26538	broad.mit.edu	37	19	15839715	15839715	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:15839715C>G	ENST00000305899.3	+	1	882	c.862C>G	c.(862-864)Ccc>Gcc	p.P288A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTTCCTCAGCCCCATCATCTT	0.557000													13	82					0	0	0.479597	0	0
SNTG2	54221	broad.mit.edu	37	2	1093892	1093892	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:1093892T>C	ENST00000308624.5	+	3	350	c.221T>C	c.(220-222)gTt>gCt	p.V74A	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	74	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGCAGAACTGTTACACTCCGC	0.358000													40	223					0	0	0.870114	0	0
ADAM33	80332	broad.mit.edu	37	20	3652890	3652890	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:3652890G>T	ENST00000356518.2	-	14	1729	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P	ADAM33_ENST00000379861.4_Silent_p.P496P|ADAM33_ENST00000350009.2_Silent_p.P496P|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	496	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AAACGTCTGGGGGACAGTGGG	0.657000													21	199					2.12542e-12	3.07045e-12	0.706142	1	0
ATP8B1	5205	broad.mit.edu	37	18	55322637	55322637	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:55322637C>A	ENST00000536015.1	-	23	2839	c.2720G>T	c.(2719-2721)gGc>gTc	p.G907V	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.G907V|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	907					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TATTCCAACGCCAATGTGGGC	0.463000													16	61					2.39187e-15	3.59743e-15	0.575678	1	0
KLHL38	340359	broad.mit.edu	37	8	124659188	124659188	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:124659188G>C	ENST00000325995.7	-	2	1440	c.1417C>G	c.(1417-1419)Cct>Gct	p.P473A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	473										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ACCACTGCAGGGGCACACACG	0.478000													64	216					0	0	0.870114	0	0
WNT9A	7483	broad.mit.edu	37	1	228109290	228109290	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:228109290C>A	ENST00000272164.5	-	4	1037	c.1027G>T	c.(1027-1029)Gtg>Ttg	p.V343L	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	343					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CACCAACGCACCTGGCACTGG	0.642000													12	60					9.31168e-06	1.1091e-05	0.435327	1	0
ZFP2	80108	broad.mit.edu	37	5	178358827	178358827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:178358827G>T	ENST00000361362.2	+	5	1043	c.513G>T	c.(511-513)atG>atT	p.M171I	ZFP2_ENST00000523286.1_Missense_Mutation_p.M171I|ZFP2_ENST00000503510.2_Missense_Mutation_p.M171I|ZFP2_ENST00000520301.1_Missense_Mutation_p.M171I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTCAGAGCATGAATCTTACTG	0.403000													5	52					0.0293803	0.0305795	0.248553	1	0
ZNF202	7753	broad.mit.edu	37	11	123600446	123600446	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:123600446C>G	ENST00000336139.4	-	4	852	c.490G>C	c.(490-492)Gat>Cat	p.D164H	ZNF202_ENST00000530393.1_Missense_Mutation_p.D164H|ZNF202_ENST00000529691.1_Missense_Mutation_p.D164H			O95125	ZN202_HUMAN	zinc finger protein 202	164					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGCACAGGATCCTGCAGCTCA	0.577000													5	50					0	0	0.217242	0	0
THBS2	7058	broad.mit.edu	37	6	169648972	169648972	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:169648972G>T	ENST00000366787.3	-	4	398	c.149C>A	c.(148-150)cCc>cAc	p.P50H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	50	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGCACGCCGGGGTCGGGCCC	0.592000													15	39					1.15088e-07	1.47744e-07	0.500413	1	0
ELF1	1997	broad.mit.edu	37	13	41507961	41507961	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:41507961T>A	ENST00000239882.3	-	9	1774	c.1460A>T	c.(1459-1461)cAg>cTg	p.Q487L	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q463L	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	487					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q487L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTTTTGTGACTGCAGCATGAC	0.478000													13	103					0	0	0.435327	0	0
TTN	7273	broad.mit.edu	37	2	179417298	179417298	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179417298C>T	ENST00000589042.1	-	335	90553	c.90329G>A	c.(90328-90330)gGa>gAa	p.G30110E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27542E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28469E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21045E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21237E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21170E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28469	Fibronectin type-III 119.						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)			ATCACTCAGTCCTTTCTCATT	0.448000													6	32					0	0	0.278610	0	0
GGNBP2	79893	broad.mit.edu	37	17	34913082	34913082	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:34913082G>C	ENST00000304718.4	+	4	650	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	112					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCCTGCTCTTGAACCCCTAAC	0.468000													6	62					0	0	0.217242	0	0
FARP1	10160	broad.mit.edu	37	13	98865613	98865613	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:98865613C>G	ENST00000376586.2	+	2	453	c.117C>G	c.(115-117)ctC>ctG	p.L39L	FARP1_ENST00000319562.6_Silent_p.L39L|FARP1_ENST00000376581.5_Silent_p.L39L|FARP1_ENST00000595437.1_Silent_p.L39L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	39					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGGAAAACTCGTGTCCATCA	0.557000													55	304					0	0	0.870114	0	0
ZNF658	26149	broad.mit.edu	37	9	40773144	40773144	+	Nonsense_Mutation	SNP	C	C	A	rs143209035		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:40773144C>A	ENST00000602553.1	-	5	2425	c.2131G>T	c.(2131-2133)Gag>Tag	p.E711*	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.E711*			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAGGGTTTCTCCCCCGTGTGA	0.403000													84	641					6.15735e-50	1.02501e-49	0.870114	1	0
GALNTL6	442117	broad.mit.edu	37	4	173232856	173232856	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:173232856C>A	ENST00000506823.1	+	4	996	c.339C>A	c.(337-339)agC>agA	p.S113R	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.S96R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	113						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTTTCGTCAGCAACAATATTG	0.423000													25	162					1.66031e-10	2.31124e-10	0.667858	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535265	90535265	+	RNA	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:90535265G>C	ENST00000602681.1	+	0	1169																											GGAGCCTCCCGGTCCTCTCAT	0.587000													51	179					0	0	0.870114	0	0
ACKR2	1238	broad.mit.edu	37	3	42906235	42906235	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:42906235G>T	ENST00000422265.1	+	3	416	c.241G>T	c.(241-243)Gtt>Ttt	p.V81F	ACKR2_ENST00000442925.1_Missense_Mutation_p.V81F|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.V81F|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		CAGGCGGATGGTTGAGATCTA	0.552000													29	135					1.7881e-09	2.45063e-09	0.729181	1	0
GABRB3	2562	broad.mit.edu	37	15	26825586	26825586	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:26825586C>T	ENST00000541819.2	-	7	832	c.730G>A	c.(730-732)Gac>Aac	p.D244N	GABRB3_ENST00000299267.4_Missense_Mutation_p.D188N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D103N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D117N|GABRB3_ENST00000311550.5_Missense_Mutation_p.D188N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	188					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AACTCAATGTCATCCGTGGTG	0.507000													23	97					0	0	0.667858	0	0
FRAS1	80144	broad.mit.edu	37	4	79437027	79437027	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:79437027G>A	ENST00000264895.6	+	66	10689	c.10249G>A	c.(10249-10251)Gac>Aac	p.D3417N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3412					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTCCAGTTTGACCCCAGCGT	0.552000													14	123					0	0	0.435327	0	0
SHOC2	8036	broad.mit.edu	37	10	112764363	112764363	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:112764363G>T	ENST00000369452.4	+	5	1317		c.e5-1		SHOC2_ENST00000489390.1_Splice_Site|SHOC2_ENST00000265277.5_Splice_Site	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TTTTTTTACAGAGTCTTTTAT	0.373000													6	43					2.0095e-06	2.45071e-06	0.248553	1	0
TBX21	30009	broad.mit.edu	37	17	45822506	45822506	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:45822506G>T	ENST00000177694.1	+	6	1593	c.1382G>T	c.(1381-1383)gGa>gTa	p.G461V		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	461					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCGGCCCTGGAGGCTCAGAG	0.672000													8	29					3.86212e-05	4.46732e-05	0.361761	1	0
NAV2	89797	broad.mit.edu	37	11	20066981	20066981	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:20066981G>T	ENST00000396085.1	+	14	4028	c.3667G>T	c.(3667-3669)Gca>Tca	p.A1223S	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000533917.1_Missense_Mutation_p.A309S|NAV2_ENST00000311043.8_Missense_Mutation_p.A309S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1159S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1223S|NAV2_ENST00000540292.1_Missense_Mutation_p.A1177S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1175S|NAV2_ENST00000396087.3_Missense_Mutation_p.A1246S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1246						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCAAGTCCGCAGGCCTGCC	0.567000													4	49					0.150653	0.153573	0.150653	1	0
KLHL4	56062	broad.mit.edu	37	X	86888867	86888867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:86888867G>A	ENST00000373119.4	+	8	1813	c.1668G>A	c.(1666-1668)atG>atA	p.M556I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M556I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	556						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TAGCCAGTATGTCAACTCCTA	0.423000													5	21					0	0	0.184627	0	0
RCSD1	92241	broad.mit.edu	37	1	167654678	167654678	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:167654678C>A	ENST00000367854.3	+	3	460	c.129C>A	c.(127-129)acC>acA	p.T43T	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	43										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GTAAACCAACCCGAAGGAAAC	0.577000													12	94					4.7546e-09	6.39137e-09	0.500413	1	0
FBXW7	55294	broad.mit.edu	37	4	153332652	153332652	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:153332652C>T	ENST00000281708.4	-	2	1533	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	FBXW7_ENST00000604872.1_Missense_Mutation_p.E102K|FBXW7_ENST00000603548.1_Missense_Mutation_p.E102K|FBXW7_ENST00000603841.1_Missense_Mutation_p.E102K	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	102					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCATGTTCTTCATCTTCCTCT	0.433000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								13	90					0	0	0.479597	0	0
CSMD1	64478	broad.mit.edu	37	8	2965255	2965255	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:2965255C>T	ENST00000520002.1	-	46	7378	c.6823G>A	c.(6823-6825)Gat>Aat	p.D2275N	CSMD1_ENST00000400186.3_Missense_Mutation_p.D2275N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2274N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2274N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D2275N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D2275N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2275	Sushi 13.					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)		TCGAAATCATCATCCTCAGTA	0.358000													15	115					0	0	0.592651	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94343029	94343029	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:94343029C>T	ENST00000436063.2	-	2	519	c.462G>A	c.(460-462)gtG>gtA	p.V154V	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTGTAGGAAGCACAATTCTAG	0.393000													8	37					0	0	0.278610	0	0
CCDC138	165055	broad.mit.edu	37	2	109463283	109463283	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:109463283G>T	ENST00000295124.4	+	12	1473	c.1413G>T	c.(1411-1413)caG>caT	p.Q471H	CCDC138_ENST00000412964.2_Missense_Mutation_p.Q471H	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	471										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ATTCTCCACAGCATTCTGTGG	0.363000													6	61					0.0215528	0.0224881	0.217242	1	0
GIGYF1	64599	broad.mit.edu	37	7	100284308	100284308	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:100284308G>C	ENST00000275732.5	-	7	1867	c.658C>G	c.(658-660)Cgg>Ggg	p.R220G	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	220										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCGTCTCGCCGGGGCCCTGCT	0.682000													6	63					0	0	0.278610	0	0
RALBP1	10928	broad.mit.edu	37	18	9516881	9516881	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:9516881G>A	ENST00000019317.4	+	3	506	c.283G>A	c.(283-285)Gat>Aat	p.D95N	RALBP1_ENST00000383432.3_Missense_Mutation_p.D95N			Q15311	RBP1_HUMAN	ralA binding protein 1	95					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TAGCTCTGGAGATGAGGCAGA	0.378000													16	106					0	0	0.575678	0	0
AADACL4	343066	broad.mit.edu	37	1	12726521	12726521	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:12726521C>T	ENST00000376221.1	+	4	999	c.999C>T	c.(997-999)atC>atT	p.I333I		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	333						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATGAGGTCATCGCTCAGCTTC	0.517000													20	102					0	0	0.575678	0	0
CDHR3	222256	broad.mit.edu	37	7	105621546	105621546	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:105621546G>A	ENST00000542731.1	+	3	490	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CDHR3_ENST00000541203.1_Missense_Mutation_p.E128K|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.E128K|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.E40K			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	128	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E128K(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGATGTGAACGAGCCACCTCA	0.512000													3	38					0	0	0.150653	0	0
ESPNL	339768	broad.mit.edu	37	2	239040065	239040065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:239040065G>T	ENST00000343063.3	+	9	2973	c.2710G>T	c.(2710-2712)Gtg>Ttg	p.V904L	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.V860L|ESPNL_ENST00000409506.1_Missense_Mutation_p.V536L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	904										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)		CCACAAGGCCGTGACCGACGA	0.706000													3	15					0.150653	0.153573	0.150653	1	0
SLC10A2	6555	broad.mit.edu	37	13	103703661	103703661	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:103703661G>T	ENST00000245312.3	-	4	1303	c.707C>A	c.(706-708)gCg>gAg	p.A236E		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	236					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGAGTAACCCGCCACAGGAAA	0.433000													31	61					1.56738e-10	2.19094e-10	0.796494	1	0
TCHH	7062	broad.mit.edu	37	1	152084849	152084849	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:152084849C>G	ENST00000368804.1	-	2	843	c.844G>C	c.(844-846)Gag>Cag	p.E282Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	282					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGCCGCTCCAGCTTCCGT	0.622000													21	115					0	0	0.639603	0	0
CBR3	874	broad.mit.edu	37	21	37518645	37518645	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:37518645G>T	ENST00000290354.5	+	3	950	c.669G>T	c.(667-669)gtG>gtT	p.V223V	CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000427491.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	223						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						GGATTCTGGTGAATGCGTGCT	0.567000													13	74					6.08587e-21	9.72698e-21	0.520397	1	0
MIB1	57534	broad.mit.edu	37	18	19348706	19348706	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:19348706G>T	ENST00000261537.6	+	3	788	c.524G>T	c.(523-525)aGg>aTg	p.R175M	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	175	MIB/HERC2 2.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AATGGACGTAGGGGAAAGGTA	0.398000													5	38					1.23904e-05	1.45825e-05	0.184627	1	0
TBC1D16	125058	broad.mit.edu	37	17	77984509	77984509	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:77984509G>C	ENST00000310924.2	-	3	344	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	77						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCCAGGATGAGGGTGGCTCCC	0.627000													3	18					0	0	0.115264	0	0
GRIN2D	2906	broad.mit.edu	37	19	48925194	48925194	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:48925194C>G	ENST00000263269.3	+	10	2332	c.2244C>G	c.(2242-2244)ctC>ctG	p.L748L		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	748						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TCACTCAGCTCAAGGCAGGGT	0.617000													33	121					0	0	0.827153	0	0
OR5T2	219464	broad.mit.edu	37	11	56000039	56000039	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:56000039C>A	ENST00000313264.4	-	1	698	c.623G>T	c.(622-624)tGt>tTt	p.C208F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATTGGCTCCACAGAAGGATAG	0.418000													18	113					1.40151e-16	2.14626e-16	0.592651	1	0
SPTA1	6708	broad.mit.edu	37	1	158624491	158624491	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:158624491G>T	ENST00000368148.3	-	21	3126	c.2946C>A	c.(2944-2946)gtC>gtA	p.V982V	SPTA1_ENST00000368147.3_Silent_p.V982V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	982	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATAAAGCCATGACCCTTTGTT	0.493000													11	48					6.40141e-05	7.35398e-05	0.387290	1	0
FBXO47	494188	broad.mit.edu	37	17	37101317	37101317	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:37101317C>T	ENST00000378079.2	-	7	888	c.689G>A	c.(688-690)cGa>cAa	p.R230Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	230										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGAATCACTTCGATGTGTCCA	0.388000													12	70					0	0	0.387290	0	0
SNX19	399979	broad.mit.edu	37	11	130785474	130785474	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:130785474C>A	ENST00000265909.4	-	1	930	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	SNX19_ENST00000533214.1_Missense_Mutation_p.V121L|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	121	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCTGGCTCACGGAACGGTAC	0.532000													9	38					0.361761	0.365452	0.361761	1	0
MIR548I2	100302277	broad.mit.edu	37	4	9557899	9557899	+	RNA	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:9557899T>A	ENST00000408348.1	-	0	38					NR_031688.1																						caattacttttgcaccaaact	0.403000													14	59					0	0	0.435327	0	0
HSPH1	10808	broad.mit.edu	37	13	31735714	31735714	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:31735714C>T	ENST00000320027.5	-	1	350	c.6G>A	c.(4-6)tcG>tcA	p.S2S	HSPH1_ENST00000380405.4_Silent_p.S2S|HSPH1_ENST00000445273.2_Intron|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.S2S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	2					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ACCCCACCACCGACATGGCCG	0.716000													9	59					0	0	0.307466	0	0
CHMP4C	92421	broad.mit.edu	37	8	82665358	82665358	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:82665358G>T	ENST00000297265.4	+	2	443	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	84	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	p.G84C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TCAGATTGATGGCACACTTTC	0.438000													7	72					0.00448238	0.00481113	0.307466	1	0
NME8	51314	broad.mit.edu	37	7	37916466	37916466	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:37916466C>A	ENST00000199447.4	+	12	1223	c.851C>A	c.(850-852)gCt>gAt	p.A284D	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.A284D	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	284					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CAACATTTAGCTCAGCTCTGT	0.308000													6	39					0.0215528	0.0224881	0.217242	1	0
EIF3A	8661	broad.mit.edu	37	10	120801812	120801812	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:120801812C>A	ENST00000369144.3	-	19	3347	c.3220G>T	c.(3220-3222)Gat>Tat	p.D1074Y	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.D1040Y	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1074	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CGATCATCATCCAACCCTCGC	0.637000													49	327					2.78941e-39	4.61156e-39	0.870114	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Nonstop_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:21971003C>A	ENST00000579755.1	-	2	690	c.398G>T	c.(397-399)tGa>tTa	p.*133L	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000304494.5_Nonsense_Mutation_p.E119*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E119*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000530628.2_Nonstop_Mutation_p.*133L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E119*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E119*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000361570.3_Nonstop_Mutation_p.*174L			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCC	0.726000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	51					1.61879e-10	2.25719e-10	0.411799	1	0
MYH4	4622	broad.mit.edu	37	17	10351443	10351443	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:10351443C>A	ENST00000255381.2	-	34	4767	c.4656_splice	c.e34-1	p.A1553_splice	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1553					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAAGAGATGCCTTAATAAAA	0.323000													4	12					0.00024832	0.000278429	0.150653	1	0
PLXNB2	23654	broad.mit.edu	37	22	50728108	50728108	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:50728108C>A	ENST00000449103.1	-	3	1046	c.906G>T	c.(904-906)cgG>cgT	p.R302R	PLXNB2_ENST00000359337.4_Silent_p.R302R			O15031	PLXB2_HUMAN	plexin B2	302	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCACTGCTCCGGCTGTCTC	0.682000													8	81					7.48243e-07	9.33501e-07	0.335167	1	0
FBXO4	26272	broad.mit.edu	37	5	41934064	41934064	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:41934064C>G	ENST00000296812.2	+	4	719	c.663C>G	c.(661-663)gtC>gtG	p.V221V	FBXO4_ENST00000509134.1_Silent_p.V221V|FBXO4_ENST00000281623.3_Silent_p.V221V	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	221					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GATCAGGAGTCAATTTTCAGT	0.328000													5	37					0	0	0.248553	0	0
HMCN1	83872	broad.mit.edu	37	1	186044023	186044023	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:186044023G>T	ENST00000271588.4	+	53	8519	c.8290_splice	c.e53+1	p.V2764_splice	HMCN1_ENST00000367492.2_Splice_Site_p.V2764_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2764					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATATTCAAGGTAATACTAA	0.294000													9	54					1.36491e-13	2.001e-13	0.435327	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768851	31768851	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:31768851C>A	ENST00000240587.4	-	2	2175	c.1848G>T	c.(1846-1848)aaG>aaT	p.K616N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	616					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTCAGTGACCTTTTTCACCA	0.577000													10	84					0.00136819	0.00149524	0.411799	1	0
HOXD8	3234	broad.mit.edu	37	2	176996060	176996060	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:176996060G>A	ENST00000313173.4	+	2	1220	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	HOXD8_ENST00000429017.1_Missense_Mutation_p.R14Q|HOXD8_ENST00000450510.2_Missense_Mutation_p.R197Q|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.R94Q|HOXD8_ENST00000544999.1_Missense_Mutation_p.R197Q	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	198					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCTGGTAGACGAAGAGGAAGA	0.408000													5	117					0	0	0.248553	0	0
KARS	3735	broad.mit.edu	37	16	75665696	75665696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:75665696C>A	ENST00000319410.5	-	9	1178	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	KARS_ENST00000302445.3_Nonsense_Mutation_p.E325*|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	325					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TCAATCCCCTCATTCCGGAAC	0.473000													74	216					2.43516e-34	4.01016e-34	0.870114	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130288957	130288957	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:130288957G>T	ENST00000257359.6	-	2	1657	c.951C>A	c.(949-951)ctC>ctA	p.L317L		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	317	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCTGTCTGGTGAGCAGGATGG	0.622000													26	201					1.39806e-14	2.08778e-14	0.729181	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269503	150269503	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:150269503T>C	ENST00000255945.2	+	3	520	c.345T>C	c.(343-345)caT>caC	p.H115H	GIMAP4_ENST00000461940.1_Silent_p.H129H|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	115							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGGCCTCATGCTCTGCTTC	0.507000													4	52					0	0	0.184627	0	0
HCN1	348980	broad.mit.edu	37	5	45262601	45262601	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:45262601A>C	ENST00000303230.4	-	8	2152	c.2095T>G	c.(2095-2097)Tac>Gac	p.Y699D		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	699						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCGGTGGTGTAGGAGCAGGGT	0.632000													8	51					0	0	0.335167	0	0
FAM81A	145773	broad.mit.edu	37	15	59799490	59799490	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:59799490G>T	ENST00000288228.5	+	5	679	c.492G>T	c.(490-492)caG>caT	p.Q164H		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	164										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ACAAAGAACAGCAGGCTGCCA	0.458000													3	24					0.000602214	0.000667233	0.184627	1	0
ST3GAL4	6484	broad.mit.edu	37	11	126279243	126279243	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:126279243C>T	ENST00000526727.1	+	8	1082	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ST3GAL4_ENST00000392669.2_Silent_p.F236F|ST3GAL4_ENST00000444328.2_Silent_p.F236F|ST3GAL4_ENST00000534083.1_Silent_p.F236F|ST3GAL4_ENST00000532243.1_Silent_p.F235F|ST3GAL4_ENST00000534457.1_Silent_p.F231F|ST3GAL4_ENST00000530591.1_Silent_p.F232F|ST3GAL4_ENST00000449406.2_Silent_p.F225F|ST3GAL4_ENST00000227495.6_Silent_p.F232F|ST3GAL4_ENST00000356132.4_Silent_p.F242F			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	236					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ACCCCTTCTTCATGGAGATTG	0.517000													35	179					0	0	0.796494	0	0
MACF1	23499	broad.mit.edu	37	1	39781294	39781294	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:39781294G>C	ENST00000564288.1	+	27	4157	c.3380G>C	c.(3379-3381)cGc>cCc	p.R1127P	MACF1_ENST00000372915.3_Missense_Mutation_p.R1132P|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.R1132P|MACF1_ENST00000317713.7_Missense_Mutation_p.R1132P|MACF1_ENST00000545844.1_Missense_Mutation_p.R1132P|MACF1_ENST00000567887.1_Missense_Mutation_p.R1164P|MACF1_ENST00000361689.2_Missense_Mutation_p.R1132P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1132	Poly-Ser.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAACTCTGCGCTCAGAACTG	0.453000													16	63					0	0	0.500413	0	0
ZIC1	7545	broad.mit.edu	37	3	147128145	147128145	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:147128145C>A	ENST00000282928.4	+	1	975	c.246C>A	c.(244-246)caC>caA	p.H82Q		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	82	Poly-His.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ATCACCATCACCCGGGCCACG	0.697000													3	17					0.004672	0.0049892	0.115264	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6534646	6534646	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:6534646C>A	ENST00000377748.1	-	7	1032	c.533_splice	c.e7-1	p.E179_splice	PLEKHG5_ENST00000400915.3_Splice_Site_p.E158_splice|PLEKHG5_ENST00000544978.1_Splice_Site_p.E102_splice|PLEKHG5_ENST00000535355.1_Splice_Site_p.E171_splice|PLEKHG5_ENST00000377737.2_Splice_Site_p.E102_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.E139_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.E181_splice|PLEKHG5_ENST00000377725.1_Splice_Site_p.E102_splice|PLEKHG5_ENST00000377728.3_Splice_Site_p.E102_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.E179_splice|PLEKHG5_ENST00000400913.1_Splice_Site_p.E102_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.E102_splice	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	158					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGCACCTCCCTGCCCCCA	0.647000													8	57					2.80697e-09	3.80365e-09	0.387290	1	0
PALD1	27143	broad.mit.edu	37	10	72293752	72293752	+	Silent	SNP	C	C	T	rs149940192		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:72293752C>T	ENST00000263563.6	+	8	1213	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GCCAGATGGGCGTGGGCAGGA	0.682000													11	38					0	0	0.435327	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749075	33749075	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:33749075C>A	ENST00000403687.3	+	8	1386	c.646C>A	c.(646-648)Cag>Aag	p.Q216K	RASGRP3_ENST00000407811.1_Missense_Mutation_p.Q216K|RASGRP3_ENST00000402538.3_Missense_Mutation_p.Q216K	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	216	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ACCAACCCCCCAGCAAAGGGC	0.428000													30	270					1.04352e-10	1.45988e-10	0.788014	1	0
SCN3A	6328	broad.mit.edu	37	2	165971981	165971981	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:165971981T>A	ENST00000360093.3	-	19	3989	c.3498A>T	c.(3496-3498)gaA>gaT	p.E1166D	SCN3A_ENST00000283254.7_Missense_Mutation_p.E1166D|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1117D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1166						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAAAACAAGCTTCCGGTTTAA	0.388000													9	69					0	0	0.361761	0	0
ATXN7	6314	broad.mit.edu	37	3	63981726	63981726	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:63981726G>C	ENST00000398590.3	+	12	2781	c.2228G>C	c.(2227-2229)gGg>gCg	p.G743A	ATXN7_ENST00000538065.1_Missense_Mutation_p.G743A|ATXN7_ENST00000295900.6_Missense_Mutation_p.G743A|ATXN7_ENST00000487717.1_Missense_Mutation_p.G743A|ATXN7_ENST00000484332.1_Missense_Mutation_p.G598A	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	743	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCTCACTCTGGGCCTCCCTAC	0.522000													9	53					0	0	0.335167	0	0
MGEA5	10724	broad.mit.edu	37	10	103572872	103572872	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:103572872C>A	ENST00000361464.3	-	3	659	c.264G>T	c.(262-264)tgG>tgT	p.W88C	MGEA5_ENST00000357797.5_Missense_Mutation_p.W88C|MGEA5_ENST00000419011.2_Missense_Mutation_p.W88C|MGEA5_ENST00000439817.1_Missense_Mutation_p.W88C|MGEA5_ENST00000370094.3_Missense_Mutation_p.W88C	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	88					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TATTTAATTCCCATTTCTGGA	0.378000													12	85					7.93312e-07	9.86803e-07	0.457914	1	0
MUC16	94025	broad.mit.edu	37	19	9013878	9013878	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:9013878A>C	ENST00000397910.4	-	33	38715	c.38512T>G	c.(38512-38514)Tca>Gca	p.S12838A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12840				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGTCCCTGAGGTCCCAAGG	0.488000													12	36					0	0	0.435327	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308695	7308695	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:7308695C>T	ENST00000297498.2	-	3	407	c.241G>A	c.(241-243)Gga>Aga	p.G81R	SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.G28R	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	81					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AATGAGGGTCCTCGAGCCTCC	0.468000													9	109					0	0	0.361761	0	0
OR6N2	81442	broad.mit.edu	37	1	158747028	158747028	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:158747028G>C	ENST00000339258.1	-	1	397	c.398C>G	c.(397-399)cCt>cGt	p.P133R		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CATAATTATAGGGTAGTGGAG	0.522000													12	79					0	0	0.457914	0	0
ABLIM3	22885	broad.mit.edu	37	5	148586668	148586668	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:148586668C>A	ENST00000506113.1	+	5	1028	c.546C>A	c.(544-546)agC>agA	p.S182R	ABLIM3_ENST00000309868.7_Missense_Mutation_p.S182R|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.S182R|ABLIM3_ENST00000504238.1_Missense_Mutation_p.S182R|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S182R|ABLIM3_ENST00000326685.7_Missense_Mutation_p.S182R			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	182	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.S182R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTGCAGCGTCATCCTCA	0.622000													15	65					2.35188e-11	3.33464e-11	0.539581	1	0
HTR4	3360	broad.mit.edu	37	5	147830798	147830798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:147830798C>A	ENST00000354217.2	-	7	1277	c.1114G>T	c.(1114-1116)Gag>Tag	p.E372*	HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Nonsense_Mutation_p.E372*|HTR4_ENST00000314512.6_3'UTR			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0			C -> Y (in dbSNP:rs34826744).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGCAGTTTCTCGAGTTCCTGA	0.468000													16	204					5.3912e-06	6.46714e-06	0.539581	1	0
PODXL2	50512	broad.mit.edu	37	3	127387354	127387354	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:127387354G>T	ENST00000342480.6	+	5	1316	c.1277G>T	c.(1276-1278)aGt>aTt	p.S426I		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	426					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CGCCATGGCAGTGGCCACCAT	0.662000													7	16					2.0095e-06	2.45071e-06	0.248553	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92848636	92848636	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:92848636A>T	ENST00000394468.2	-	2	285	c.208T>A	c.(208-210)Ttt>Att	p.F70I	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F93I|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F58I|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.F58I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	70						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGTCTCTCAAATAGCCATATG	0.507000													12	78					0	0	0.479597	0	0
FHL5	9457	broad.mit.edu	37	6	97053906	97053906	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:97053906T>A	ENST00000326771.2	+	5	843	c.463T>A	c.(463-465)Ttt>Att	p.F155I	FHL5_ENST00000541107.1_Missense_Mutation_p.F155I	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	155	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTGCCATGTTTTGAGAAGGA	0.398000													9	41					0	0	0.335167	0	0
TTN	7273	broad.mit.edu	37	2	179428279	179428279	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179428279A>G	ENST00000589042.1	-	326	82804	c.82580T>C	c.(82579-82581)cTg>cCg	p.L27527P	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L24959P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L25886P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L18462P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L18654P|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L18587P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25886	Fibronectin type-III 100.						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)			CCTGAGCCGCAGATCCGTTAA	0.473000													6	89					0	0	0.335167	0	0
RBM44	375316	broad.mit.edu	37	2	238742946	238742946	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:238742946G>A	ENST00000316997.4	+	15	3193	c.3061G>A	c.(3061-3063)Gaa>Aaa	p.E1021K	RBM44_ENST00000409864.1_Missense_Mutation_p.E1021K	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	1020							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGCACTTCAGGAAGTGAGAAT	0.313000													3	11					0	0	0.150653	0	0
UNC13A	23025	broad.mit.edu	37	19	17746902	17746902	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:17746902G>T	ENST00000428389.2	-	27	3409	c.3410C>A	c.(3409-3411)tCc>tAc	p.S1137Y	UNC13A_ENST00000552293.1_Missense_Mutation_p.S1049Y|UNC13A_ENST00000252773.7_Missense_Mutation_p.S1049Y|UNC13A_ENST00000551649.1_Missense_Mutation_p.S1049Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.S1047Y|UNC13A_ENST00000519716.2_Missense_Mutation_p.S1049Y			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1049	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AATCAGCTTGGACCAGAAGTC	0.493000													5	6					0.014758	0.0155042	0.184627	1	0
FAT4	79633	broad.mit.edu	37	4	126373856	126373856	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:126373856G>T	ENST00000394329.3	+	9	11698	c.11685G>T	c.(11683-11685)agG>agT	p.R3895S	FAT4_ENST00000335110.5_Missense_Mutation_p.R2193S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3895	EGF-like 2; calcium-binding (Potential).				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						TCACTGGTAGGGCGTGTGAGA	0.473000													5	28					0.014758	0.0155042	0.184627	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64133064	64133064	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:64133064C>A	ENST00000295902.6	-	7	1687	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.D424Y	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	368						cytoplasm|nuclear membrane	zinc ion binding	p.D368N(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGTCTACGTCGGCTGACAGC	0.612000													16	159					5.3912e-06	6.46714e-06	0.539581	1	0
RBPJ	3516	broad.mit.edu	37	4	26430433	26430433	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:26430433C>T	ENST00000342320.4	+	8	1012	c.836C>T	c.(835-837)aCa>aTa	p.T279I	RBPJ_ENST00000345843.3_Missense_Mutation_p.T278I|RBPJ_ENST00000507561.1_Missense_Mutation_p.T258I|RBPJ_ENST00000348160.4_Missense_Mutation_p.T280I|RBPJ_ENST00000342295.1_Missense_Mutation_p.T293I|RBPJ_ENST00000355476.3_Missense_Mutation_p.T279I|RBPJ_ENST00000361572.6_Missense_Mutation_p.T293I|RBPJ_ENST00000504907.1_Missense_Mutation_p.T279I			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	293					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTTAAGGATACAGAAAGAATG	0.313000													4	38					0	0	0.150653	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552787	117552787	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:117552787G>C	ENST00000374045.4	-	4	814	c.701C>G	c.(700-702)tCt>tGt	p.S234C	TNFSF15_ENST00000374044.1_Missense_Mutation_p.S157C	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	234					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						ATCCACCAAAGAGATGTCACT	0.448000													17	69					0	0	0.608945	0	0
ZNF202	7753	broad.mit.edu	37	11	123601503	123601503	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:123601503C>G	ENST00000336139.4	-	3	456	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	ZNF202_ENST00000530393.1_Missense_Mutation_p.E32Q|ZNF202_ENST00000529691.1_Missense_Mutation_p.E32Q			O95125	ZN202_HUMAN	zinc finger protein 202	32					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AAGACAGACTCTGGCCGACAG	0.537000													21	94					0	0	0.667858	0	0
TENM3	55714	broad.mit.edu	37	4	183651438	183651438	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:183651438G>T	ENST00000511685.1	+	15	2794	c.2671G>T	c.(2671-2673)Gaa>Taa	p.E891*	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Nonsense_Mutation_p.E891*					teneurin transmembrane protein 3																		CCATTACCCAGAATATGGATA	0.423000													18	107					8.10497e-08	1.05496e-07	0.592651	1	0
LILRA6	79168	broad.mit.edu	37	19	54744863	54744863	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:54744863G>C	ENST00000440558.2	-	5	847	c.799C>G	c.(799-801)Cgc>Ggc	p.R267G	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.R267G|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.R267G|LILRA6_ENST00000245621.5_Missense_Mutation_p.R267G					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCAGGGCGCTGGAGGAAG	0.642000													9	165					0	0	0.411799	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639786	94639786	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:94639786C>A	ENST00000260526.6	-	23	3607	c.3425G>T	c.(3424-3426)cGg>cTg	p.R1142L		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1142					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTGAAGACCGTCTCTCAGA	0.498000													12	68					1.08611e-07	1.39856e-07	0.387290	1	0
PBLD	64081	broad.mit.edu	37	10	70048379	70048379	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:70048379C>A	ENST00000358769.2	-	8	754	c.552G>T	c.(550-552)ctG>ctT	p.L184L	PBLD_ENST00000432941.1_Silent_p.L184L|PBLD_ENST00000277795.4_3'UTR|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Silent_p.L151L|PBLD_ENST00000309049.4_Silent_p.L184L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	184					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAACTTGCAGCAGATTCTCCG	0.448000													5	62					1.23904e-05	1.45825e-05	0.184627	1	0
HERC2	8924	broad.mit.edu	37	15	28458980	28458980	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:28458980T>C	ENST00000261609.7	-	42	6802	c.6694A>G	c.(6694-6696)Act>Gct	p.T2232A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2232					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGAGTCACAGTGCCTTCTCCA	0.562000													17	77					0	0	0.624587	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213349762	213349762	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:213349762C>T	ENST00000366960.3	+	8	1121	c.971C>T	c.(970-972)tCa>tTa	p.S324L	RPS6KC1_ENST00000543470.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S312L|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S27L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	324					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCACTAAGTTCAAGGCCCCTT	0.488000													19	133					0	0	0.608945	0	0
ABCA11P	79963	broad.mit.edu	37	4	420315	420315	+	RNA	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:420315G>C	ENST00000451020.2	-	0	723					NR_002451.2																						GAGTTCTCCTGAGGGCAGTAC	0.493000													10	45					0	0	0.411799	0	0
CCNH	902	broad.mit.edu	37	5	86697577	86697577	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:86697577C>G	ENST00000508855.1	-	5	532	c.480G>C	c.(478-480)gaG>gaC	p.E160D	CCNH_ENST00000504878.1_Missense_Mutation_p.E160D|CCNH_ENST00000256897.4_Missense_Mutation_p.E234D			P51946	CCNH_HUMAN	cyclin H	234					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		GCATCAGACTCTCTGATAAAT	0.299000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					6	8					0	0	0.278610	0	0
FBN1	2200	broad.mit.edu	37	15	48780337	48780337	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:48780337C>T	ENST00000316623.5	-	27	3765	c.3310G>A	c.(3310-3312)Gga>Aga	p.G1104R		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1104	EGF-like 16; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCATGAATCCACTTTCATAG	0.463000													18	86					0	0	0.575678	0	0
ZNF181	339318	broad.mit.edu	37	19	35230481	35230481	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:35230481G>C	ENST00000392232.3	+	5	484	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	ZNF181_ENST00000492450.1_Missense_Mutation_p.E62Q|ZNF181_ENST00000459757.1_Missense_Mutation_p.E61Q			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGATGGAAAAGAGCCCTGGAT	0.408000													13	107					0	0	0.500413	0	0
ZNF479	90827	broad.mit.edu	37	7	57193792	57193792	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:57193792G>T	ENST00000331162.4	-	4	465	c.195C>A	c.(193-195)atC>atA	p.I65I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCAGACAGGTGATCAAGTCTG	0.363000													12	289					2.61681e-11	3.70092e-11	0.457914	1	0
NLRP2	55655	broad.mit.edu	37	19	55489144	55489144	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55489144C>A	ENST00000543010.1	+	4	493	c.350C>A	c.(349-351)cCt>cAt	p.P117H	NLRP2_ENST00000339757.7_Missense_Mutation_p.P117H|NLRP2_ENST00000263437.6_Missense_Mutation_p.P117H|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Missense_Mutation_p.P117H|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000427260.2_Missense_Mutation_p.P94H|NLRP2_ENST00000448584.2_Missense_Mutation_p.P117H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	117					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAACGACCACCTCTAGACGTG	0.552000													9	108					0.000673444	0.000743217	0.361761	1	0
SYNE2	23224	broad.mit.edu	37	14	64518345	64518345	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:64518345G>T	ENST00000358025.3	+	48	7944	c.7714G>T	c.(7714-7716)Gat>Tat	p.D2572Y	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D2605Y|SYNE2_ENST00000344113.4_Missense_Mutation_p.D2572Y	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2572					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAGAGAAAGATTCTTTAGG	0.333000													3	29					0.004672	0.0049892	0.115264	1	0
TRIM71	131405	broad.mit.edu	37	3	32859640	32859640	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:32859640C>G	ENST00000383763.4	+	1	131	c.68C>G	c.(67-69)gCg>gGg	p.A23G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	23					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTCGCCGGCGCCGCTCTCC	0.706000													4	62					0	0	0.217242	0	0
TP53BP1	7158	broad.mit.edu	37	15	43724717	43724717	+	Missense_Mutation	SNP	G	G	A	rs139141876		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:43724717G>A	ENST00000263801.3	-	17	3587	c.3335C>T	c.(3334-3336)cCa>cTa	p.P1112L	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P1117L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P1117L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P1117L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1112					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGGACTGGATGGCCCTTGTAT	0.478000								Other conserved DNA damage response genes					8	25					0	0	0.278610	0	0
PCK1	5105	broad.mit.edu	37	20	56140521	56140521	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:56140521G>T	ENST00000319441.4	+	10	1694	c.1530G>T	c.(1528-1530)aaG>aaT	p.K510N	PCK1_ENST00000543666.1_Missense_Mutation_p.K193N|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	510					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AACTGCCCAAGATCTTCCATG	0.557000													6	51					3.59834e-05	4.17943e-05	0.217242	1	0
GPR149	344758	broad.mit.edu	37	3	154146877	154146877	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:154146877C>A	ENST00000389740.2	-	1	627	c.528G>T	c.(526-528)gtG>gtT	p.V176V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGGCGTGCGCACGAAGGCGC	0.667000													3	41					0.004672	0.0049892	0.115264	1	0
KCNMB1	3779	broad.mit.edu	37	5	169805827	169805827	+	Missense_Mutation	SNP	C	C	T	rs144153073	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:169805827C>T	ENST00000274629.4	-	4	899	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	153					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GCCTGGGGCCCGTAGAGGCGC	0.592000													5	30					0	0	0.184627	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68178245	68178245	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:68178245C>T	ENST00000262215.3	-	14	2508	c.2119G>A	c.(2119-2121)Gat>Aat	p.D707N	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D161N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	707					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTACAAATCTATCCCTTGT	0.383000													5	36					0	0	0.184627	0	0
VIPAS39	63894	broad.mit.edu	37	14	77910608	77910608	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:77910608C>T	ENST00000553888.1	-	8	1091	c.581G>A	c.(580-582)gGa>gAa	p.G194E	VIPAS39_ENST00000343765.2_Missense_Mutation_p.G194E|VIPAS39_ENST00000448935.2_Missense_Mutation_p.G145E|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G194E|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G181E|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G220E	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		AATGACGTTTCCATCATGCAT	0.373000													9	50					0	0	0.435327	0	0
SORCS1	114815	broad.mit.edu	37	10	108536316	108536316	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:108536316A>C	ENST00000263054.6	-	4	868	c.861T>G	c.(859-861)atT>atG	p.I287M	SORCS1_ENST00000344440.6_Missense_Mutation_p.I287M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	287						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTATGCCAGAATCCAGTCTT	0.413000													4	127					0	0	0.184627	0	0
HMCN1	83872	broad.mit.edu	37	1	186008125	186008125	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:186008125C>A	ENST00000271588.4	+	38	6245	c.6016C>A	c.(6016-6018)Ctg>Atg	p.L2006M	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2006M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2006	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTTTACAGTCTGCAAGTTCA	0.383000													9	67					6.40141e-05	7.35398e-05	0.387290	1	0
NAT2	10	broad.mit.edu	37	8	18258140	18258140	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:18258140G>T	ENST00000286479.3	+	2	734	c.627G>T	c.(625-627)ctG>ctT	p.L209L	NAT2_ENST00000520116.1_Silent_p.L79L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	209					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ATACATACCTGCAGACGTCTC	0.383000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				7	93					0.00307968	0.00331825	0.278610	1	0
TLX3	30012	broad.mit.edu	37	5	170736389	170736389	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:170736389C>A	ENST00000296921.5	+	1	102	c.20C>A	c.(19-21)gCg>gAg	p.A7E		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	7						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCCAGCGCGCAGACCCCG	0.771000			T	BCL11B	T-ALL								3	19					0.00909568	0.00960353	0.150653	1	0
MKI67	4288	broad.mit.edu	37	10	129914094	129914094	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:129914094C>T	ENST00000368654.3	-	7	953	c.578G>A	c.(577-579)aGa>aAa	p.R193K	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	193					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCTGCATTTCTGCCATTACG	0.413000													12	127					0	0	0.479597	0	0
SYCP2	10388	broad.mit.edu	37	20	58450426	58450426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:58450426C>A	ENST00000357552.3	-	34	3474	c.3249G>T	c.(3247-3249)tgG>tgT	p.W1083C	SYCP2_ENST00000371001.2_Missense_Mutation_p.W1083C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1083					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGAGTTTTTCCATTGTTTTG	0.368000													8	27					0.27861	0.281792	0.278610	1	0
TM2D2	83877	broad.mit.edu	37	8	38852975	38852975	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:38852975C>A	ENST00000412303.1	-	2	442	c.48G>T	c.(46-48)gcG>gcT	p.A16A	TM2D2_ENST00000456397.2_Intron|TM2D2_ENST00000456845.2_Silent_p.A16A|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000397070.2_Silent_p.A16A	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	0						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTTTGCAAATCGCTGTTTGCA	0.413000													16	107					3.70931e-20	5.87832e-20	0.539581	1	0
RNF113A	7737	broad.mit.edu	37	X	119004824	119004824	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:119004824C>A	ENST00000371442.2	-	1	967	c.753G>T	c.(751-753)gtG>gtT	p.V251V		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	251							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CATCGCTTCCCACTTCATAGT	0.468000													16	54					3.99206e-14	5.90389e-14	0.557998	1	0
ECD	11319	broad.mit.edu	37	10	74923674	74923674	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:74923674C>A	ENST00000372979.4	-	2	228	c.22G>T	c.(22-24)Gct>Tct	p.A8S	ECD_ENST00000454759.1_Missense_Mutation_p.A8S|ECD_ENST00000430082.1_Missense_Mutation_p.A8S	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	8					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCCATCGTAGCAAGCTTCATG	0.368000													9	83					3.86212e-05	4.46732e-05	0.361761	1	0
MTERFD3	80298	broad.mit.edu	37	12	107371932	107371932	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:107371932C>T	ENST00000552029.1	-	2	2629	c.561G>A	c.(559-561)atG>atA	p.M187I	MTERFD3_ENST00000392830.2_Missense_Mutation_p.M187I|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.M187I			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GAATTCTTACCATTTGCTTAT	0.363000													11	43					0	0	0.411799	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902987	74902987	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:74902987T>C	ENST00000357877.2	+	12	1743	c.1594T>C	c.(1594-1596)Tgg>Cgg	p.W532R	SEMA4F_ENST00000339773.5_Missense_Mutation_p.W377R|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	532	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGTCTGTGCCTGGAGCTTCCG	0.602000													12	76					0	0	0.435327	0	0
POLR3E	55718	broad.mit.edu	37	16	22325442	22325442	+	Missense_Mutation	SNP	A	A	C	rs139739087		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:22325442A>C	ENST00000299853.5	+	8	682	c.515A>C	c.(514-516)cAg>cCg	p.Q172P	POLR3E_ENST00000359210.4_Missense_Mutation_p.Q172P|POLR3E_ENST00000418581.2_Missense_Mutation_p.Q136P|POLR3E_ENST00000564209.1_Missense_Mutation_p.Q172P	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	172					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GATGTTAAGCAGATCACGGTG	0.617000													10	40					0	0	0.335167	0	0
STOM	2040	broad.mit.edu	37	9	124118350	124118350	+	Missense_Mutation	SNP	G	G	A	rs11551164		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:124118350G>A	ENST00000286713.2	-	2	163	c.146C>T	c.(145-147)tCa>tTa	p.S49L	STOM_ENST00000538954.1_5'UTR|STOM_ENST00000347359.2_Missense_Mutation_p.S49L	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	49					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CATCCATATTGAGATTGGGAA	0.433000													7	43					0	0	0.307466	0	0
FMNL1	752	broad.mit.edu	37	17	43317858	43317858	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:43317858G>A	ENST00000331495.3	+	12	1432	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.E366K|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	366	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCGGCTCACCGAGAGTGACAA	0.602000													12	76					0	0	0.435327	0	0
MYH6	4624	broad.mit.edu	37	14	23866390	23866390	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:23866390C>G	ENST00000405093.3	-	17	2109	c.2039G>C	c.(2038-2040)cGg>cCg	p.R680P	MYH6_ENST00000356287.3_Missense_Mutation_p.R680P	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	680	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGAGCCTTCCGCTCATTGGG	0.552000													39	194					0	0	0.870114	0	0
PAK7	57144	broad.mit.edu	37	20	9561329	9561329	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:9561329G>T	ENST00000378429.3	-	5	999	c.453C>A	c.(451-453)ctC>ctA	p.L151L	PAK7_ENST00000378423.1_Silent_p.L151L|PAK7_ENST00000353224.5_Silent_p.L151L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	151	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CATCTCCATAGAGACTCTTCT	0.498000													26	173					7.38237e-10	1.0184e-09	0.706142	1	0
CACNA1A	773	broad.mit.edu	37	19	13318215	13318215	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:13318215G>T	ENST00000360228.5	-	47	7432	c.7433C>A	c.(7432-7434)cCg>cAg	p.P2478Q	CACNA1A_ENST00000573710.2_3'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2477					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCGTGCGCCGGGTAGTAGCC	0.751000													3	1					0.115264	0.118286	0.115264	1	0
HEPACAM	220296	broad.mit.edu	37	11	124793653	124793653	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:124793653G>T	ENST00000298251.4	-	3	1086	c.681C>A	c.(679-681)cgC>cgA	p.R227R		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	227	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CAGGCAGGCTGCGGCCCTGGC	0.582000													10	81					3.27435e-08	4.30863e-08	0.457914	1	0
CAD	790	broad.mit.edu	37	2	27463139	27463139	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:27463139G>C	ENST00000264705.4	+	35	5665	c.5503G>C	c.(5503-5505)Gaa>Caa	p.E1835Q	CAD_ENST00000403525.1_Missense_Mutation_p.E1772Q	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1835	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGACACCTGAAAGACCCCG	0.572000													52	251					0	0	0.870114	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153575171	153575171	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:153575171T>C	ENST00000326446.5	+	1	744	c.33T>C	c.(31-33)gcT>gcC	p.A11A		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	11						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GGCGGTCGGCTCTGCGGCGCC	0.687000													6	112					0	0	0.248553	0	0
MAP7D1	55700	broad.mit.edu	37	1	36645579	36645579	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:36645579G>T	ENST00000316156.4	+	15	2765	c.2312G>T	c.(2311-2313)aGt>aTt	p.S771I	MAP7D1_ENST00000373151.2_Missense_Mutation_p.S809I|MAP7D1_ENST00000373148.4_Missense_Mutation_p.S345I|MAP7D1_ENST00000373150.4_Missense_Mutation_p.S776I			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	809						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GGGGACAAGAGTCTGAGCCGA	0.592000													4	70					1.23904e-05	1.45825e-05	0.184627	1	0
RYR2	6262	broad.mit.edu	37	1	237670089	237670089	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:237670089T>C	ENST00000366574.2	+	23	3010	c.2693T>C	c.(2692-2694)aTt>aCt	p.I898T	RYR2_ENST00000360064.6_Missense_Mutation_p.I896T|RYR2_ENST00000542537.1_Missense_Mutation_p.I882T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	898	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGAATAAAATTGAGCTTGGC	0.333000													6	28					0	0	0.307466	0	0
AKAP4	8852	broad.mit.edu	37	X	49957192	49957192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:49957192C>A	ENST00000376056.2	-	5	2295	c.2145G>T	c.(2143-2145)ttG>ttT	p.L715F	AKAP4_ENST00000376058.2_Missense_Mutation_p.L341F|AKAP4_ENST00000376064.3_Missense_Mutation_p.L715F|AKAP4_ENST00000358526.2_Missense_Mutation_p.L724F|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	724					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTGTTCTTCCAACTCAGCAA	0.468000													10	22					3.86212e-05	4.46732e-05	0.361761	1	0
SEMA5A	9037	broad.mit.edu	37	5	9237949	9237949	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:9237949G>T	ENST00000382496.5	-	6	989	c.324C>A	c.(322-324)ggC>ggA	p.G108G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	108	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCTTTGATTTGCCTTTGCTGT	0.388000													12	56					1.05317e-09	1.44811e-09	0.457914	1	0
TTN	7273	broad.mit.edu	37	2	179616214	179616214	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179616214G>C	ENST00000360870.5	-	46	11135	c.10913C>G	c.(10912-10914)aCt>aGt	p.T3638S	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9485	Ig-like 22.						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)			GGGAGAGCCAGTAAACCTCAG	0.363000													6	107					0	0	0.217242	0	0
DNAH8	1769	broad.mit.edu	37	6	38775465	38775465	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:38775465C>T	ENST00000359357.3	+	22	2833	c.2579C>T	c.(2578-2580)aCa>aTa	p.T860I	DNAH8_ENST00000449981.2_Missense_Mutation_p.T1077I|DNAH8_ENST00000441566.1_Missense_Mutation_p.T860I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTCTGGACACAATGAAAAGA	0.308000													10	54					0	0	0.387290	0	0
ZNF366	167465	broad.mit.edu	37	5	71757326	71757326	+	Translation_Start_Site	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:71757326T>A	ENST00000318442.5	-	0	488					NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTCTGCATCCTTGGCAATTTT	0.408000													7	100					0	0	0.307466	0	0
OR2F2	135948	broad.mit.edu	37	7	143633045	143633045	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:143633045G>C	ENST00000408955.2	+	1	787	c.720G>C	c.(718-720)acG>acC	p.T240T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCTTCCACACGTGTGCCTCTC	0.517000													5	58					0	0	0.184627	0	0
TPRG1	285386	broad.mit.edu	37	3	189028214	189028214	+	Silent	SNP	G	G	T	rs138024891		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:189028214G>T	ENST00000345063.3	+	5	686	c.519G>T	c.(517-519)ccG>ccT	p.P173P	TPRG1_ENST00000433971.1_Silent_p.P173P	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	173										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GGGGGAGTCCGGAGGAGCAGT	0.438000													4	43					1.23904e-05	1.45825e-05	0.184627	1	0
ZP4	57829	broad.mit.edu	37	1	238049079	238049079	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:238049079G>C	ENST00000366570.4	-	7	1105	c.947C>G	c.(946-948)aCt>aGt	p.T316S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	316	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAGTTCCAGAGTGAGGGGTCC	0.507000													9	56					0	0	0.387290	0	0
NOS3	4846	broad.mit.edu	37	7	150697597	150697597	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:150697597C>A	ENST00000297494.3	+	10	1500	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V	NOS3_ENST00000461406.1_Silent_p.V175V|NOS3_ENST00000467517.1_Silent_p.V381V|NOS3_ENST00000484524.1_Silent_p.V381V	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	381	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ATGTGGCTGTCTGCATGGACC	0.597000													10	97					7.93312e-07	9.86803e-07	0.457914	1	0
CATSPERD	257062	broad.mit.edu	37	19	5746013	5746013	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:5746013C>A	ENST00000381624.3	+	9	808	c.747C>A	c.(745-747)ccC>ccA	p.P249P	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	249						integral to membrane											TCATCGCCCCCGGCCAGAGAG	0.567000													42	275					4.1673e-28	6.80269e-28	0.870114	1	0
CYP3A5	1577	broad.mit.edu	37	7	99258182	99258182	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:99258182G>T	ENST00000343703.5	-	11	1322	c.936C>A	c.(934-936)gcC>gcA	p.A312A	CYP3A5_ENST00000222982.4_Silent_p.A322A|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CAGGGTGAGTGGCCAGTTCAT	0.478000													4	99					0.00024832	0.000278429	0.150653	1	0
SNTG2	54221	broad.mit.edu	37	2	1133467	1133467	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:1133467A>C	ENST00000308624.5	+	6	512	c.383A>C	c.(382-384)cAt>cCt	p.H128P	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	128	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AATGGCATACATGTAGAAAAT	0.264000													10	54					0	0	0.500413	0	0
SCAND3	114821	broad.mit.edu	37	6	28542711	28542711	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:28542711T>C	ENST00000452236.2	-	3	2388	c.1771A>G	c.(1771-1773)Aaa>Gaa	p.K591E		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	591					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						GGAGGGCTTTTTTCAGCCACC	0.368000													3	27					0	0	0.115264	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20054969	20054969	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:20054969C>T	ENST00000276390.2	+	1	92	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	18					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		ACCCGAGCTACCCGTGCCCAC	0.697000													5	14					0	0	0.278610	0	0
KCNIP1	30820	broad.mit.edu	37	5	169780911	169780911	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:169780911G>A	ENST00000377360.4	+	1	421	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	KCNIP1_ENST00000518527.1_3'UTR	NM_001034838.2	NP_001030010.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	0					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGCAAGCTTGGGTTCGTGAA	0.557000													8	46					0	0	0.361761	0	0
PIM3	415116	broad.mit.edu	37	22	50356445	50356445	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:50356445A>T	ENST00000360612.4	+	5	1160	c.725A>T	c.(724-726)gAc>gTc	p.D242V		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	242	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTGTGGGGACATCCCCTTC	0.687000													5	94					0	0	0.217242	0	0
OTOA	146183	broad.mit.edu	37	16	21702953	21702953	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:21702953G>C	ENST00000388958.3	+	8	685	c.684G>C	c.(682-684)caG>caC	p.Q228H	OTOA_ENST00000286149.4_Missense_Mutation_p.Q228H|OTOA_ENST00000388956.4_Missense_Mutation_p.Q149H	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	228					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCATTCCCAGAGAGCTCTCT	0.488000													9	55					0	0	0.435327	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176161	140176161	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140176161C>A	ENST00000526136.1	+	1	1612	c.1612C>A	c.(1612-1614)Cgg>Agg	p.R538R	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.R538R|PCDHA2_ENST00000378132.1_Silent_p.R538R	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGGGATGCGGG	0.677000													23	143					6.50621e-10	8.9975e-10	0.769981	1	0
THEG	51298	broad.mit.edu	37	19	362422	362422	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:362422G>T	ENST00000342640.4	-	8	960	c.918C>A	c.(916-918)ccC>ccA	p.P306P	THEG_ENST00000346878.2_Silent_p.P282P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	306					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGAGCTTTGGGCCCTAGTG	0.597000													18	77					7.45023e-12	1.0617e-11	0.592651	1	0
SLC30A3	7781	broad.mit.edu	37	2	27479383	27479383	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:27479383G>T	ENST00000233535.4	-	7	1241	c.889C>A	c.(889-891)Ccc>Acc	p.P297T	SLC30A3_ENST00000447008.2_Missense_Mutation_p.P292T	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	297					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATTGCGGGGGGTACCTGCA	0.607000													15	91					1.50039e-11	2.12914e-11	0.608945	1	0
DMRTC2	63946	broad.mit.edu	37	19	42351804	42351804	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:42351804G>T	ENST00000269945.3	+	3	276	c.224_splice	c.e3-1	p.L75_splice	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Splice_Site_p.L75_splice	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	75					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCACTTTTAGGGAGCGCCGCA	0.587000													3	28					0.150653	0.153573	0.150653	1	0
OR2M5	127059	broad.mit.edu	37	1	248308857	248308857	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:248308857G>C	ENST00000366476.1	+	1	408	c.408G>C	c.(406-408)atG>atC	p.M136I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCAATCTCATGAGACCCAAAA	0.448000													61	329					0	0	0.870114	0	0
CHST15	51363	broad.mit.edu	37	10	125798090	125798090	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:125798090G>A	ENST00000346248.5	-	5	1773	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	CHST15_ENST00000421115.1_Silent_p.F377F|CHST15_ENST00000435907.1_Silent_p.F377F	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	377					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGGCGTGGATGAAGTCCTGCG	0.542000													9	71					0	0	0.335167	0	0
ZNF599	148103	broad.mit.edu	37	19	35250448	35250448	+	Nonsense_Mutation	SNP	C	C	A	rs112895297	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:35250448C>A	ENST00000329285.7	-	4	1631	c.1258G>T	c.(1258-1260)Gag>Tag	p.E420*		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGGGCTTCTCTCCGGTATGG	0.473000													7	43					1.06961e-07	1.38474e-07	0.278610	1	0
EIF3B	8662	broad.mit.edu	37	7	2406666	2406666	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:2406666G>C	ENST00000360876.4	+	9	1445	c.1389G>C	c.(1387-1389)aaG>aaC	p.K463N	EIF3B_ENST00000397011.2_Missense_Mutation_p.K463N	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	463					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGAGTTTGAAGATCTCTGGGA	0.368000													26	128					0	0	0.760397	0	0
FZD2	2535	broad.mit.edu	37	17	42636256	42636256	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:42636256C>T	ENST00000315323.3	+	1	1332	c.1200C>T	c.(1198-1200)ggC>ggT	p.G400G		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	400					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGAGCGGCGTGTGCTTCG	0.662000													27	130					0	0	0.717897	0	0
HMCN1	83872	broad.mit.edu	37	1	186092172	186092172	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:186092172C>G	ENST00000271588.4	+	81	12548	c.12319C>G	c.(12319-12321)Ccg>Gcg	p.P4107A	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4107A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4107	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCCTCCCTCCGCCTGACAT	0.488000													16	89					0	0	0.520397	0	0
PLCB1	23236	broad.mit.edu	37	20	8782781	8782781	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:8782781C>T	ENST00000378641.3	+	32	3977	c.3502C>T	c.(3502-3504)Cct>Tct	p.P1168S	PLCB1_ENST00000338037.6_Intron|PLCB1_ENST00000378637.2_Missense_Mutation_p.P1168S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCCCCCCAACCCTCAAGCTCT	0.552000													21	102					0	0	0.717897	0	0
KPRP	448834	broad.mit.edu	37	1	152733593	152733593	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:152733593C>A	ENST00000368773.1	+	2	1587	c.1529C>A	c.(1528-1530)cCa>cAa	p.P510Q	KPRP_ENST00000606109.1_Missense_Mutation_p.P510Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	510	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCATACCCAGGAGACCTA	0.632000													9	60					0.000978159	0.00107597	0.387290	1	0
ANLN	54443	broad.mit.edu	37	7	36445887	36445887	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:36445887A>T	ENST00000265748.2	+	4	806	c.585A>T	c.(583-585)ccA>ccT	p.P195P	ANLN_ENST00000396068.2_Silent_p.P195P	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	195	Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CGGCAACTCCAGTTGGCAGAA	0.483000													6	79					0	0	0.248553	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138260	32138260	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:32138260C>A	ENST00000395499.1	-	4	1031	c.452G>T	c.(451-453)cGc>cTc	p.R151L	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R151L|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R151L|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R151L|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R151L|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R151L|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R39L			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	151					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						ATCCCCCGTGCGCTTCCGGTC	0.637000													23	100					7.38237e-10	1.0184e-09	0.706142	1	0
ARMC5	79798	broad.mit.edu	37	16	31471321	31471321	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:31471321G>T	ENST00000457010.2	+	1	1176		c.e1+1		ARMC5_ENST00000408912.3_Splice_Site|ARMC5_ENST00000412665.2_Splice_Site|ARMC5_ENST00000538189.1_Splice_Site|ARMC5_ENST00000563544.1_Splice_Site|ARMC5_ENST00000268314.4_Splice_Site	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5								binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCCCTTTGGGTAAGTGCTCC	0.572000													15	96					7.93312e-07	9.86803e-07	0.457914	1	0
CCDC96	257236	broad.mit.edu	37	4	7043399	7043399	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:7043399C>T	ENST00000310085.4	-	1	1329	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	423										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TTTCGTTCCTCAATTTTCTCA	0.448000													37	203					0	0	0.853193	0	0
NDRG4	65009	broad.mit.edu	37	16	58541899	58541899	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:58541899G>T	ENST00000394282.4	+	12	1288	c.881G>T	c.(880-882)gGg>gTg	p.G294V	NDRG4_ENST00000258187.5_Missense_Mutation_p.G274V|NDRG4_ENST00000394279.2_Missense_Mutation_p.G274V|NDRG4_ENST00000569923.1_Missense_Mutation_p.G187V|NDRG4_ENST00000563799.1_Missense_Mutation_p.G260V|NDRG4_ENST00000356752.4_Missense_Mutation_p.G272V|NDRG4_ENST00000568640.1_Missense_Mutation_p.G260V|NDRG4_ENST00000562999.1_Missense_Mutation_p.G242V|NDRG4_ENST00000566192.1_Missense_Mutation_p.G242V|NDRG4_ENST00000570248.1_Missense_Mutation_p.G242V	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	242					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCTGAGGACGGGGTGGTAAGT	0.637000													9	86					0.000442599	0.000492655	0.335167	1	0
SYT3	84258	broad.mit.edu	37	19	51133105	51133105	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:51133105C>A	ENST00000338916.4	-	3	1631	c.998G>T	c.(997-999)gGc>gTc	p.G333V	SYT3_ENST00000544769.1_Missense_Mutation_p.G333V|SYT3_ENST00000600079.1_Missense_Mutation_p.G333V|SYT3_ENST00000593901.1_Missense_Mutation_p.G333V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	333	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTCTGAGAAGCCGTTGGAGTC	0.612000													24	148					1.2476e-16	1.91579e-16	0.706142	1	0
TENM2	57451	broad.mit.edu	37	5	167626963	167626963	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:167626963C>A	ENST00000519204.1	+	16	3012	c.2894C>A	c.(2893-2895)aCc>aAc	p.T965N	TENM2_ENST00000545108.1_Missense_Mutation_p.T1086N|TENM2_ENST00000518659.1_Missense_Mutation_p.T1086N|TENM2_ENST00000403607.2_Missense_Mutation_p.T910N|TENM2_ENST00000520394.1_Missense_Mutation_p.T854N					teneurin transmembrane protein 2																		CTGAAGATCACCATGACCCAG	0.517000													13	72					5.50884e-06	6.57544e-06	0.411799	1	0
LETM1	3954	broad.mit.edu	37	4	1850930	1850930	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:1850930G>A	ENST00000302787.2	-	2	385	c.89C>T	c.(88-90)cCa>cTa	p.P30L	LETM1_ENST00000512189.1_5'UTR	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	30					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGGATCCCCTGGACTACCTGT	0.453000													16	59					0	0	0.592651	0	0
TLR10	81793	broad.mit.edu	37	4	38775383	38775383	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:38775383A>C	ENST00000308973.4	-	4	2434	c.1829T>G	c.(1828-1830)cTa>cGa	p.L610R	TLR10_ENST00000508334.1_Missense_Mutation_p.L610R|TLR10_ENST00000506111.1_Missense_Mutation_p.L610R|TLR10_ENST00000361424.2_Missense_Mutation_p.L610R	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	610					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GCATTGACCTAGCATCCTGAG	0.453000													9	58					0	0	0.411799	0	0
INMT	11185	broad.mit.edu	37	7	30795047	30795047	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:30795047G>T	ENST00000013222.5	+	3	388	c.372G>T	c.(370-372)tgG>tgT	p.W124C	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.W123C	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	124						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GCGGCCGATGGGAGGAGAAGG	0.632000													5	21					0.014758	0.0155042	0.184627	1	0
NHP2L1	4809	broad.mit.edu	37	22	42070954	42070954	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:42070954C>T	ENST00000401959.1	-	4	686	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.E124K|NHP2L1_ENST00000215956.5_Missense_Mutation_p.E124K|NHP2L1_ENST00000402458.1_Missense_Mutation_p.E128K	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	124					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						AAGAGCCTTTCAATGGACTGC	0.512000													12	60					0	0	0.435327	0	0
MKRN3	7681	broad.mit.edu	37	15	23812100	23812100	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:23812100T>C	ENST00000314520.3	+	1	1647	c.1171T>C	c.(1171-1173)Tac>Cac	p.Y391H	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Missense_Mutation_p.Y151H|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	391						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TATTCAGCAATACAAGGAGGC	0.498000													16	85					0	0	0.557998	0	0
C12orf44	60673	broad.mit.edu	37	12	52467483	52467483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:52467483G>T	ENST00000336854.4	+	3	527	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	17					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGGGCGGCAGGTGGAGGAGGC	0.602000													37	108					1.07121e-22	1.72356e-22	0.827153	1	0
TAAR5	9038	broad.mit.edu	37	6	132910347	132910347	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:132910347C>G	ENST00000258034.2	-	1	530	c.479G>C	c.(478-480)gGg>gCg	p.G160A		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	160					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TGCGGGCACCCCCCATCCTGC	0.557000													14	73					0	0	0.457914	0	0
UBR4	23352	broad.mit.edu	37	1	19526215	19526215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:19526215G>A	ENST00000375267.2	-	3	311	c.308C>T	c.(307-309)gCc>gTc	p.A103V	UBR4_ENST00000375254.3_Missense_Mutation_p.A103V|UBR4_ENST00000375226.2_Missense_Mutation_p.A103V|UBR4_ENST00000375217.2_Missense_Mutation_p.A103V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	103					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AACTTTACAGGCTGCTGCCAC	0.453000													10	99					0	0	0.335167	0	0
LHX9	56956	broad.mit.edu	37	1	197898328	197898328	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:197898328C>T	ENST00000367390.3	+	6	1133	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F	LHX9_ENST00000367387.4_Missense_Mutation_p.S378F|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000561173.1_Intron	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	378					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TCCGTGACCTCTAACATGGAC	0.468000													14	114					0	0	0.500413	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359271	64359271	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:64359271C>A	ENST00000377574.1	+	1	990	c.243C>A	c.(241-243)ccC>ccA	p.P81P	SLC22A12_ENST00000377567.2_Silent_p.P81P|SLC22A12_ENST00000377572.1_Silent_p.P81P|SLC22A12_ENST00000336464.7_Silent_p.P81P|SLC22A12_ENST00000473690.1_5'UTR	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	81					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CGCCGGGCCCCAACCAGAGGC	0.687000													11	43					0.000673444	0.000743217	0.361761	1	0
DNAH9	1770	broad.mit.edu	37	17	11597675	11597675	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:11597675G>A	ENST00000262442.3	+	22	4851	c.4783G>A	c.(4783-4785)Gac>Aac	p.D1595N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1595N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1595	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGTACCTCGACACCAAGAG	0.502000													12	48					0	0	0.411799	0	0
STK11IP	114790	broad.mit.edu	37	2	220480061	220480061	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:220480061G>A	ENST00000456909.1	+	24	3205	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K	STK11IP_ENST00000295641.10_Missense_Mutation_p.E1050K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1050					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCTACGATGAGGTGTGTAT	0.617000													8	39					0	0	0.307466	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419163	85419163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:85419163C>A	ENST00000295886.4	-	1	440	c.219G>T	c.(217-219)aaG>aaT	p.K73N		NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	73					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TGGCCGGGGGCTTCAGGCCGC	0.741000													4	13					0.00024832	0.000278429	0.150653	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129463	248129463	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:248129463C>A	ENST00000366480.3	+	1	929	c.830C>A	c.(829-831)cCa>cAa	p.P277Q	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TACACAAGGCCACACTCCTTG	0.483000													7	53					0.000157383	0.000177769	0.278610	1	0
ADCY5	111	broad.mit.edu	37	3	123047508	123047508	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:123047508C>A	ENST00000462833.1	-	6	3000	c.1788G>T	c.(1786-1788)gaG>gaT	p.E596D	ADCY5_ENST00000491190.1_Missense_Mutation_p.E229D|ADCY5_ENST00000309879.5_Missense_Mutation_p.E246D	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	596	Guanylate cyclase 1.				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)		TGCCGCCAGCCTCCATGTGGT	0.622000											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	135					1.836e-18	2.87174e-18	0.788014	1	0
SRCIN1	80725	broad.mit.edu	37	17	36714512	36714512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:36714512C>A	ENST00000264659.7	-	11	2376	c.2152G>T	c.(2152-2154)Gaa>Taa	p.E718*	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Nonsense_Mutation_p.E752*	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	590					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CGCAGCCGTTCCTCTTCCACC	0.697000											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	140					4.7546e-09	6.39137e-09	0.500413	1	0
PLAU	5328	broad.mit.edu	37	10	75673801	75673801	+	Silent	SNP	G	G	T	rs147117027	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:75673801G>T	ENST00000446342.1	+	7	1175	c.693G>T	c.(691-693)acG>acT	p.T231T	PLAU_ENST00000372764.3_Silent_p.T248T|PLAU_ENST00000372762.4_Silent_p.T212T|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	248	Peptidase S1.		K -> Q (in dbSNP:rs2227567).		blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	p.T248T(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ACTCCAACACGCAAGGGGAGA	0.517000													3	52					0.00024832	0.000278429	0.150653	1	0
COL4A2	1284	broad.mit.edu	37	13	111114631	111114631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:111114631G>T	ENST00000360467.5	+	24	1982	c.1676G>T	c.(1675-1677)cGg>cTg	p.R559L	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	559	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTAGGTGAGCGGGGACAGCCC	0.672000													24	83					2.24059e-21	3.58453e-21	0.706142	1	0
SALL1	6299	broad.mit.edu	37	16	51175016	51175016	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:51175016A>T	ENST00000440970.1	-	2	1257	c.826T>A	c.(826-828)Tcg>Acg	p.S276T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S373T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	373					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGTGAGGACGATGATGAGACC	0.512000													21	51					0	0	0.592651	0	0
SNX31	169166	broad.mit.edu	37	8	101625260	101625260	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:101625260G>C	ENST00000311812.2	-	6	636	c.486C>G	c.(484-486)ctC>ctG	p.L162L	SNX31_ENST00000428383.2_Silent_p.L63L	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	162					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAATGAGAAAGAGGCCGAAGT	0.507000													8	113					0	0	0.278610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37488686	37488686	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:37488686G>C	ENST00000374660.1	+	36	3036	c.2937G>C	c.(2935-2937)aaG>aaC	p.K979N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K860N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K860N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1016						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						CAAAACAAAAGAAGGTTGAAG	0.274000													10	25					0	0	0.435327	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	72					0	0	0.115264	0	0
A1BG	1	broad.mit.edu	37	19	58863709	58863709	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:58863709G>A	ENST00000263100.3	-	4	614	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	185	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCATCGGTCCGGTAGCTGCAG	0.637000													33	141					0	0	0.819951	0	0
PEX5	5830	broad.mit.edu	37	12	7362389	7362389	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:7362389G>T	ENST00000266563.5	+	14	1743	c.1560G>T	c.(1558-1560)cgG>cgT	p.R520R	PEX5_ENST00000266564.3_Silent_p.R549R|PEX5_ENST00000412720.2_Silent_p.R578R|PEX5_ENST00000420616.2_Silent_p.R557R|PEX5_ENST00000434354.2_Silent_p.R572R|PEX5_ENST00000455147.2_Silent_p.R557R	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	557					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCTATATCCGGTCCCGCTATA	0.552000													6	87					0.00621372	0.00661042	0.335167	1	0
PLEKHA4	57664	broad.mit.edu	37	19	49368804	49368804	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:49368804C>G	ENST00000263265.6	-	3	703	c.148G>C	c.(148-150)Gat>Cat	p.D50H	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D50H	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	50						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGTTGGGATCCCTCCTGAGC	0.577000													14	72					0	0	0.557998	0	0
EBF2	64641	broad.mit.edu	37	8	25708201	25708201	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:25708201A>T	ENST00000520164.1	-	15	2142	c.1605T>A	c.(1603-1605)gcT>gcA	p.A535A	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Silent_p.A387A	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	535					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTGTTTGACAGCAGGAAAAA	0.522000													6	64					0	0	0.248553	0	0
MUC16	94025	broad.mit.edu	37	19	9058614	9058614	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:9058614G>T	ENST00000397910.4	-	3	29035	c.28832C>A	c.(28831-28833)gCc>gAc	p.A9611D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9613	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						CTCAGGAGTGGCACCAGAGGG	0.527000													8	31					5.18039e-06	6.22757e-06	0.278610	1	0
ZAK	51776	broad.mit.edu	37	2	174130918	174130918	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:174130918G>A	ENST00000375213.3	+	20	1921	c.1843G>A	c.(1843-1845)Gtg>Atg	p.V615M	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.V615M|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					CGCTGCTGCTGTGAGACGGCC	0.498000													4	39					0	0	0.184627	0	0
MACF1	23499	broad.mit.edu	37	1	39802071	39802071	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:39802071C>T	ENST00000564288.1	+	37	10588	c.9811C>T	c.(9811-9813)Ctt>Ttt	p.L3271F	MACF1_ENST00000372915.3_Missense_Mutation_p.L3276F|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1711F|MACF1_ENST00000567887.1_Missense_Mutation_p.L3308F|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3276					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGATCCTTTCTTCCAGAGAA	0.428000													17	69					0	0	0.575678	0	0
PDHA2	5161	broad.mit.edu	37	4	96762054	96762054	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:96762054G>T	ENST00000295266.4	+	1	816	c.753G>T	c.(751-753)aaG>aaT	p.K251N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	251					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGGGCTAAAGGTCGATGGAA	0.463000													13	68					6.53275e-17	1.00683e-16	0.457914	1	0
NAP1L3	4675	broad.mit.edu	37	X	92927182	92927182	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:92927182C>T	ENST00000373079.3	-	1	1385	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	374					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TATATGTCTTCACCAGCACCT	0.413000													6	22					0	0	0.248553	0	0
CD47	961	broad.mit.edu	37	3	107798937	107798937	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:107798937C>A	ENST00000355354.7	-	2	417	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	CD47_ENST00000361309.5_Missense_Mutation_p.D101Y	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	101	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TCACTCTTATCCATCTTCAAA	0.403000													23	130					3.28513e-13	4.7869e-13	0.667858	1	0
HSP90AA1	3320	broad.mit.edu	37	14	102548086	102548086	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:102548086C>A	ENST00000334701.7	-	12	2809	c.2528G>T	c.(2527-2529)gGa>gTa	p.G843V	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.G721V	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	721					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GTCGTCATCTCCTTCAAGGGG	0.403000													11	129					3.45872e-05	4.03957e-05	0.500413	1	0
RASGRP2	10235	broad.mit.edu	37	11	64508454	64508454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:64508454G>A	ENST00000377494.1	-	4	1259	c.337C>T	c.(337-339)Cga>Tga	p.R113*	RASGRP2_ENST00000394430.1_Nonsense_Mutation_p.R113*|RASGRP2_ENST00000377487.1_Nonsense_Mutation_p.R113*|RASGRP2_ENST00000377489.1_Nonsense_Mutation_p.R113*|RASGRP2_ENST00000394432.3_Nonsense_Mutation_p.R113*|RASGRP2_ENST00000377486.3_Nonsense_Mutation_p.R113*|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000354024.3_Nonsense_Mutation_p.R113*|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377497.3_Nonsense_Mutation_p.R113*			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	113	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGTGCCGTCGGTTCCCTTCT	0.562000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	75					0	0	0.150653	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504987	70504987	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:70504987T>C	ENST00000457664.2	-	1	371	c.372A>G	c.(370-372)ctA>ctG	p.L124L	UGT2A1_ENST00000514019.1_Silent_p.L325L|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2																					AGAAAGTGTCTAGAAGTTTTC	0.368000													4	40					0	0	0.184627	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349937	21349937	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:21349937T>G	ENST00000256958.2	+	8	881	c.785T>G	c.(784-786)tTc>tGc	p.F262C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	262					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGCTTAATTTCCTTGTGTCT	0.363000													7	125					0	0	0.248553	0	0
SERPINB13	5275	broad.mit.edu	37	18	61261696	61261696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:61261696G>T	ENST00000344731.5	+	6	682	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.E194*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	194					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.E194*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GTTTAAGAAAGAAAATACTAA	0.393000													11	43					0.000219431	0.000247688	0.457914	1	0
FUBP3	8939	broad.mit.edu	37	9	133489696	133489696	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:133489696G>A	ENST00000319725.9	+	6	443	c.368G>A	c.(367-369)aGg>aAg	p.R123K		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	123	KH 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		ATTCCAGAGAGGCCCTGTGTA	0.463000													30	119					0	0	0.740014	0	0
OR7A5	26659	broad.mit.edu	37	19	14938184	14938184	+	Silent	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478000													3	63					0	0	0.278610	0	0
KCNC1	3746	broad.mit.edu	37	11	17793475	17793475	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:17793475C>A	ENST00000379472.3	+	2	864	c.834C>A	c.(832-834)ctC>ctA	p.L278L	KCNC1_ENST00000265969.6_Silent_p.L278L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	278						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGAACTCGCTCAACATCATTG	0.567000													24	113					1.08312e-15	1.63488e-15	0.740014	1	0
OR1F1	4992	broad.mit.edu	37	16	3254993	3254993	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:3254993C>A	ENST00000304646.2	+	1	747	c.747C>A	c.(745-747)ctC>ctA	p.L249L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTGTGGTTCTCCTCTTCTACA	0.488000													41	136					1.02687e-29	1.68114e-29	0.864702	1	0
EFNA5	1946	broad.mit.edu	37	5	106723417	106723417	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:106723417C>A	ENST00000333274.6	-	3	755	c.474G>T	c.(472-474)gtG>gtT	p.V158V	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Silent_p.V158V	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	158					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TTGTTGGTCTCACAAAGACTT	0.448000													14	163					6.31663e-08	8.25379e-08	0.479597	1	0
LPHN3	23284	broad.mit.edu	37	4	62758492	62758492	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:62758492G>C	ENST00000512091.1	+	9	2142	c.1395G>C	c.(1393-1395)cgG>cgC	p.R465R	LPHN3_ENST00000514591.1_Silent_p.R465R|LPHN3_ENST00000514157.1_Silent_p.R465R|LPHN3_ENST00000504896.1_Silent_p.R465R|LPHN3_ENST00000509896.1_Silent_p.R533R|LPHN3_ENST00000506700.1_Silent_p.R465R|LPHN3_ENST00000508693.1_Silent_p.R533R|LPHN3_ENST00000545650.1_Silent_p.R465R|LPHN3_ENST00000506720.1_Silent_p.R533R|LPHN3_ENST00000506746.1_Silent_p.R533R|LPHN3_ENST00000514996.1_Silent_p.R465R|LPHN3_ENST00000507625.1_Silent_p.R533R|LPHN3_ENST00000508946.1_Silent_p.R465R|LPHN3_ENST00000507164.1_Silent_p.R533R|LPHN3_ENST00000511324.1_Silent_p.R533R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	465			R -> Q (in dbSNP:rs35106420).		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAAGAAACCGGAGTACTAGTA	0.542000													17	91					0	0	0.575678	0	0
FLG	2312	broad.mit.edu	37	1	152280732	152280732	+	Silent	SNP	A	A	G	rs71625184		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:152280732A>G	ENST00000368799.1	-	3	6665	c.6630T>C	c.(6628-6630)caT>caC	p.H2210H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2210	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTCATGATGATGCGACC	0.557000									Ichthyosis				64	408					0	0	0.870114	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099720	142099720	+	RNA	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:142099720T>A	ENST00000390359.3	-	0	120																											ACTTTGTACCTAGGGGACTGG	0.473000													7	45					0	0	0.307466	0	0
C1orf52	148423	broad.mit.edu	37	1	85718351	85718351	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:85718351G>T	ENST00000471115.1	-	3	518	c.510C>A	c.(508-510)cgC>cgA	p.R170R	C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	170										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GCTCTACTTTGCGCTTTTTAG	0.313000													3	34					1.23904e-05	1.45825e-05	0.184627	1	0
AP4M1	9179	broad.mit.edu	37	7	99700362	99700362	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:99700362C>T	ENST00000429084.1	+	3	391	c.233C>T	c.(232-234)tCa>tTa	p.S78L	AP4M1_ENST00000422582.1_5'UTR|AP4M1_ENST00000359593.4_Missense_Mutation_p.S71L|AP4M1_ENST00000421755.1_Missense_Mutation_p.S71L|AP4M1_ENST00000478501.1_3'UTR			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	71					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCACAACTTCAGAAAACGTT	0.527000													10	65					0	0	0.435327	0	0
CRTAM	56253	broad.mit.edu	37	11	122733122	122733122	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:122733122G>T	ENST00000533709.1	+	1	112	c.6G>T	c.(4-6)tgG>tgT	p.W2C	CRTAM_ENST00000227348.4_Intron			O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	0					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GCACAATGTGGGTAAAACTGC	0.433000													3	20					0.004672	0.0049892	0.115264	1	0
GBP6	163351	broad.mit.edu	37	1	89847479	89847479	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:89847479C>T	ENST00000370456.4	+	7	1191	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	GBP6_ENST00000535065.1_Silent_p.I236I	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	366							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CCATTGCAATCTTCATGGAGC	0.502000													9	67					0	0	0.387290	0	0
GNAI1	2770	broad.mit.edu	37	7	79828630	79828630	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:79828630G>T	ENST00000351004.3	+	4	766	c.393G>T	c.(391-393)tgG>tgT	p.W131C	GNAI1_ENST00000457358.2_Missense_Mutation_p.W79C	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	131					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGAGATTGTGGAAAGATAGTG	0.418000													4	59					0.014758	0.0155042	0.184627	1	0
GPAM	57678	broad.mit.edu	37	10	113920366	113920366	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:113920366G>A	ENST00000348367.4	-	16	1952	c.1755C>T	c.(1753-1755)atC>atT	p.I585I	GPAM_ENST00000369425.1_Silent_p.I585I|GPAM_ENST00000423155.1_Silent_p.I585I			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	585					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACATACCTATGATGGCCTCCA	0.398000													14	57					0	0	0.520397	0	0
ZMYND12	84217	broad.mit.edu	37	1	42898960	42898960	+	Splice_Site	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:42898960C>G	ENST00000372565.3	-	7	1099		c.e7-1		ZMYND12_ENST00000475426.1_Splice_Site|ZMYND12_ENST00000433602.2_Splice_Site	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12							intracellular	zinc ion binding	p.?(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGCTTCATCTGCATTGGAA	0.463000													26	146					0	0	0.740014	0	0
CGRRF1	10668	broad.mit.edu	37	14	54976677	54976677	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:54976677G>A	ENST00000216420.7	+	0	132					NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1						cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GCAAGACCCTGATGGCTGCGG	0.627000											OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	68					0	0	0.435327	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431966	140431966	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140431966G>C	ENST00000306549.3	+	1	988	c.911G>C	c.(910-912)aGa>aCa	p.R304T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		304	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGACTAAGAGGACCCCTC	0.458000													11	65					0	0	0.387290	0	0
PARP12	64761	broad.mit.edu	37	7	139746684	139746684	+	Splice_Site	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:139746684C>T	ENST00000263549.3	-	5	1859	c.986_splice	c.e5+1	p.R329_splice		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	329	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TATTTCCTACCTTTCTATTTT	0.458000													6	102					0	0	0.217242	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419746	105419746	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:105419746T>A	ENST00000333244.5	-	7	2161	c.2042A>T	c.(2041-2043)aAg>aTg	p.K681M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	681						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAATGGCATCTTGAACTTGGG	0.507000													17	215					0	0	0.608945	0	0
DNMT3A	1788	broad.mit.edu	37	2	25464507	25464507	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:25464507G>C	ENST00000264709.3	-	17	2343	c.2006C>G	c.(2005-2007)tCc>tGc	p.S669C	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.S446C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.S480C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.S669C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	669					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)					CACCGTGATGGAGTCCTCACA	0.607000			"""Mis, F, N, S"""		AML								8	48					0	0	0.307466	0	0
CDH3	1001	broad.mit.edu	37	16	68714952	68714952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:68714952G>T	ENST00000264012.4	+	8	1493	c.949G>T	c.(949-951)Gag>Tag	p.E317*	CDH3_ENST00000429102.2_Nonsense_Mutation_p.E317*|CDH3_ENST00000581171.1_Nonsense_Mutation_p.E262*	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	317	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGCAGTAGTGGAGATCCTTGA	0.537000													75	153					1.13027e-35	1.86494e-35	0.870114	1	0
LOC645166	645166	broad.mit.edu	37	1	148932891	148932891	+	RNA	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:148932891C>G	ENST00000539543.1	+	0	147					NR_027355.1																						GGTACAGGCTCAGTCTGCGGC	0.627000													7	255					0	0	0.335167	0	0
ATP2A1	487	broad.mit.edu	37	16	28909568	28909568	+	Silent	SNP	C	C	G	rs138565447	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:28909568C>G	ENST00000395503.4	+	14	1744	c.1560C>G	c.(1558-1560)ggC>ggG	p.G520G	ATP2A1_ENST00000357084.3_Silent_p.G520G|ATP2A1_ENST00000536376.1_Silent_p.G395G	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	520					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCCTGAGGGCGTCATCGACC	0.597000													10	139					0	0	0.335167	0	0
TSPAN11	441631	broad.mit.edu	37	12	31135492	31135492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:31135492C>A	ENST00000261177.9	+	6	541	c.482C>A	c.(481-483)tCa>tAa	p.S161*	TSPAN11_ENST00000544427.1_Nonsense_Mutation_p.S151*|TSPAN11_ENST00000535215.1_Nonsense_Mutation_p.S90*|TSPAN11_ENST00000546076.1_Nonsense_Mutation_p.S161*	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	161						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGCAACAGCTCAGCCGACTGG	0.642000													19	72					7.33628e-21	1.17033e-20	0.624587	1	0
VWC2	375567	broad.mit.edu	37	7	49842321	49842321	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:49842321G>T	ENST00000340652.3	+	3	1267	c.711G>T	c.(709-711)gaG>gaT	p.E237D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	237	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CTCCATGCGAGAGGTGTCGCT	0.507000													9	97					2.27111e-07	2.89129e-07	0.411799	1	0
PTGIS	5740	broad.mit.edu	37	20	48130784	48130784	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:48130784A>G	ENST00000244043.4	-	7	1033	c.1004T>C	c.(1003-1005)cTa>cCa	p.L335P	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	335					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TGTGCTGTCTAGAACCTTCTG	0.582000													15	94					0	0	0.520397	0	0
ZNF274	10782	broad.mit.edu	37	19	58722997	58722997	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:58722997G>A	ENST00000326804.4	+	8	1380	c.921G>A	c.(919-921)caG>caA	p.Q307Q	ZNF274_ENST00000424679.2_Silent_p.Q202Q|ZNF274_ENST00000345813.3_Silent_p.Q275Q|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	308	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GCCCGACACAGAGGACCGAGT	0.602000													23	156					0	0	0.717897	0	0
LYST	1130	broad.mit.edu	37	1	235860540	235860540	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:235860540C>A	ENST00000389794.3	-	46	10581	c.10407G>T	c.(10405-10407)tgG>tgT	p.W3469C	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.W3469C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3469					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGTATTCCCCCCATTTCAAGC	0.448000													10	41					0.0167234	0.0175361	0.435327	1	0
PAX1	5075	broad.mit.edu	37	20	21687188	21687188	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:21687188C>A	ENST00000398485.2	+	2	453	c.399C>A	c.(397-399)ccC>ccA	p.P133P	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.P109P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	133	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCATCCGACCCTGTGACATCA	0.677000													15	70					4.14922e-12	5.94815e-12	0.500413	1	0
GOLGA3	2802	broad.mit.edu	37	12	133384799	133384799	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:133384799C>G	ENST00000204726.3	-	5	1414	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	GOLGA3_ENST00000456883.2_Missense_Mutation_p.E286Q|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E286Q|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E286Q|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E286Q	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	286					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGCTGATCTCAGACACAACG	0.572000													35	211					0	0	0.827153	0	0
FZD4	8322	broad.mit.edu	37	11	86666065	86666065	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:86666065C>A	ENST00000531380.1	-	1	368	c.63G>T	c.(61-63)ctG>ctT	p.L21L		NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	21					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAGCAACCCCAGACTGAGAC	0.746000													5	14					0.000157383	0.000177769	0.278610	1	0
GFRA1	2674	broad.mit.edu	37	10	117856245	117856245	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:117856245G>A	ENST00000439649.3	-	6	1153	c.786C>T	c.(784-786)tgC>tgT	p.C262C	GFRA1_ENST00000355422.6_Silent_p.C267C|GFRA1_ENST00000369236.1_Silent_p.C262C|GFRA1_ENST00000544592.1_Silent_p.C146C	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	267					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ACTCTGGCTGGCAGTTGGTAA	0.502000													4	40					0	0	0.184627	0	0
SYCP2	10388	broad.mit.edu	37	20	58450427	58450427	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:58450427C>G	ENST00000357552.3	-	34	3473	c.3248G>C	c.(3247-3249)tGg>tCg	p.W1083S	SYCP2_ENST00000371001.2_Missense_Mutation_p.W1083S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1083					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGAGTTTTTCCATTGTTTTGA	0.368000													8	27					0	0	0.278610	0	0
KMT2A	4297	broad.mit.edu	37	11	118344134	118344134	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:118344134T>C	ENST00000534358.1	+	3	2283	c.2260T>C	c.(2260-2262)Tcc>Ccc	p.S754P	KMT2A_ENST00000354520.4_Missense_Mutation_p.S754P|KMT2A_ENST00000389506.5_Missense_Mutation_p.S754P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCCTTCTCACTCCATGAGGAC	0.443000													4	158					0	0	0.150653	0	0
OPRK1	4986	broad.mit.edu	37	8	54142044	54142044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:54142044C>T	ENST00000265572.3	-	4	1253	c.956G>A	c.(955-957)gGc>gAc	p.G319D	OPRK1_ENST00000520287.1_Missense_Mutation_p.G319D|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.G230D	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	319					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTTGGTATAGCCTAAGGCGAT	0.507000													3	27					0	0	0.115264	0	0
KCNU1	157855	broad.mit.edu	37	8	36768602	36768602	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:36768602T>C	ENST00000399881.3	+	22	2523	c.2486T>C	c.(2485-2487)aTt>aCt	p.I829T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	829						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCCTTGCAAATTGACTCCTCC	0.498000													4	44					0	0	0.248553	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304412	28304412	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:28304412G>A	ENST00000284987.5	-	6	2081	c.1960C>T	c.(1960-1962)Ccc>Tcc	p.P654S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	654	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCATATTTGGGAACCCATTCC	0.448000													19	62					0	0	0.624587	0	0
VWF	7450	broad.mit.edu	37	12	6127870	6127870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:6127870C>A	ENST00000261405.5	-	28	4968	c.4714G>T	c.(4714-4716)Ggc>Tgc	p.G1572C		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1572	VWFA 2.				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)	ctGTTGCCGCCCTGGTAGCGG	0.627000													17	92					8.28177e-16	1.25457e-15	0.557998	1	0
EXOC3L2	90332	broad.mit.edu	37	19	45721578	45721578	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:45721578C>A	ENST00000413988.1	-	7	581		c.e7-1		EXOC3L2_ENST00000252482.3_Splice_Site	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2											endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TGAAGTGTGGCTGGCAGGGAC	0.642000													9	29					1.08611e-07	1.39856e-07	0.387290	1	0
ULBP3	79465	broad.mit.edu	37	6	150387253	150387253	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:150387253C>A	ENST00000367339.1	-	2	162	c.134G>T	c.(133-135)aGa>aTa	p.R45I	ULBP3_ENST00000438272.2_Missense_Mutation_p.R45I			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	45	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TTGCCCATGTCTGGGCAAATG	0.468000													11	56					9.16793e-09	1.22457e-08	0.520397	1	0
AJAP1	55966	broad.mit.edu	37	1	4771990	4771990	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:4771990C>A	ENST00000378191.4	+	2	441	c.60C>A	c.(58-60)ccC>ccA	p.P20P	AJAP1_ENST00000378190.3_Silent_p.P20P|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	20					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGGCCGCCCCCTCGGAAGCC	0.701000													40	507					5.99346e-17	9.24563e-17	0.870114	1	0
PSG1	5669	broad.mit.edu	37	19	43382294	43382294	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:43382294C>G	ENST00000244296.2	-	2	338	c.201G>C	c.(199-201)tgG>tgC	p.W67C	PSG1_ENST00000595356.1_Missense_Mutation_p.W67C|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.W67C|PSG1_ENST00000312439.6_Missense_Mutation_p.W67C|PSG1_ENST00000436291.2_Missense_Mutation_p.W67C|PSG1_ENST00000595124.1_Missense_Mutation_p.W67C	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCCCTTTGTACCAGATGTAGC	0.448000													55	455					0	0	0.870114	0	0
RNF14	9604	broad.mit.edu	37	5	141358338	141358338	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:141358338G>T	ENST00000394520.2	+	5	1086	c.777G>T	c.(775-777)caG>caT	p.Q259H	RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.Q259H|RNF14_ENST00000356143.1_Missense_Mutation_p.Q259H|RNF14_ENST00000347642.3_Missense_Mutation_p.Q259H|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_Missense_Mutation_p.Q133H	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	259					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	p.Q259H(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAGATGGCCAGGTTCAATGCC	0.502000													26	272					9.04072e-19	1.41672e-18	0.779181	1	0
CASD1	64921	broad.mit.edu	37	7	94173781	94173781	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:94173781G>T	ENST00000297273.4	+	11	1702	c.1415G>T	c.(1414-1416)gGg>gTg	p.G472V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	472						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTCAGACAGGGTATGGGCAT	0.363000													16	83					1.5739e-10	2.19641e-10	0.500413	1	0
SMARCC1	6599	broad.mit.edu	37	3	47677590	47677590	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:47677590C>A	ENST00000254480.5	-	23	2532	c.2413G>T	c.(2413-2415)Gat>Tat	p.D805Y	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	805	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGTGCTTTATCACCTTCATCC	0.368000													9	46					0.0581538	0.0600447	0.335167	1	0
CDC7	8317	broad.mit.edu	37	1	91967277	91967277	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:91967277G>C	ENST00000428239.1	+	2	263	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	CDC7_ENST00000234626.6_Missense_Mutation_p.E2Q|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Missense_Mutation_p.E2Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	2					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCTTGTGATGGAGGCGTCTTT	0.453000											OREG0013599	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	116					0	0	0.740014	0	0
MRPS12	6183	broad.mit.edu	37	19	39423062	39423062	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:39423062C>T	ENST00000407800.2	+	2	480	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	MRPS12_ENST00000308018.4_Missense_Mutation_p.R47W|MRPS12_ENST00000402029.3_Missense_Mutation_p.R47W|SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	47					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCGGCCGCCTCGGAAGCTGGG	0.677000													15	97					0	0	0.520397	0	0
OR10G8	219869	broad.mit.edu	37	11	123900991	123900991	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:123900991T>C	ENST00000431524.1	+	1	695	c.662T>C	c.(661-663)gTc>gCc	p.V221A		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		GTGTCCATCGTCTGTTCCATC	0.537000													23	87					0	0	0.654019	0	0
ABCC8	6833	broad.mit.edu	37	11	17434943	17434943	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:17434943G>T	ENST00000302539.4	-	20	2601	c.2476C>A	c.(2476-2478)Cgg>Agg	p.R826R	ABCC8_ENST00000389817.3_Silent_p.R825R	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	825	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTACTAACCCGTTCCCCAATC	0.542000													28	152					9.39395e-14	1.37958e-13	0.706142	1	0
PHACTR4	65979	broad.mit.edu	37	1	28793058	28793058	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:28793058C>G	ENST00000373839.3	+	6	863	c.602C>G	c.(601-603)tCc>tGc	p.S201C	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S211C	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	201							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCATCTCCACCTCCATC	0.552000													13	84					0	0	0.457914	0	0
TAF5L	27097	broad.mit.edu	37	1	229730651	229730651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:229730651C>A	ENST00000258281.2	-	5	1328	c.1163G>T	c.(1162-1164)tGg>tTg	p.W388L	TAF5L_ENST00000366676.1_Missense_Mutation_p.W388L	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	388					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTCCAGATCCCACACAGGATA	0.537000													12	93					4.93089e-13	7.16022e-13	0.457914	1	0
N4BP2L2	10443	broad.mit.edu	37	13	33110237	33110237	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:33110237C>A	ENST00000267068.3	-	2	1092	c.928G>T	c.(928-930)Gac>Tac	p.D310Y	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.D310Y	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	310										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATCTGAGAGTCATCTTGGGCT	0.368000													12	41					5.50884e-06	6.57544e-06	0.411799	1	0
NETO2	81831	broad.mit.edu	37	16	47143438	47143438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:47143438C>A	ENST00000562435.1	-	7	1223	c.839G>T	c.(838-840)aGt>aTt	p.S280I	NETO2_ENST00000303155.5_Missense_Mutation_p.S273I	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	280	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GCTAAGCCGACTACCTTCATC	0.388000										HNSCC(25;0.065)			22	116					3.28513e-13	4.7869e-13	0.667858	1	0
GDI2	2665	broad.mit.edu	37	10	5838739	5838739	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:5838739G>A	ENST00000380191.4	-	3	530	c.240C>T	c.(238-240)ttC>ttT	p.F80F	GDI2_ENST00000380181.3_Silent_p.F80F|GDI2_ENST00000380132.4_Silent_p.F84F	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	80					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TAGCCATAAGGAACTTGGGAA	0.338000													15	110					0	0	0.608945	0	0
CELF6	60677	broad.mit.edu	37	15	72582475	72582475	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:72582475G>A	ENST00000287202.5	-	4	770	c.516C>T	c.(514-516)acC>acT	p.T172T	CELF6_ENST00000539635.1_Silent_p.T33T|CELF6_ENST00000543764.2_Silent_p.T57T|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Silent_p.T172T|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000395258.2_Silent_p.T59T|RP11-106M3.3_ENST00000570175.1_RNA	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	172	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CACCTTTACTGGTGCCGTCAG	0.632000													15	53					0	0	0.575678	0	0
MMP1	4312	broad.mit.edu	37	11	102666333	102666333	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:102666333T>A	ENST00000315274.6	-	5	698	c.631A>T	c.(631-633)Aac>Tac	p.N211Y	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	211	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CGATGTAAGTTGTACTCTAAA	0.378000													5	35					0	0	0.248553	0	0
ERCC6	2074	broad.mit.edu	37	10	50668476	50668476	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:50668476C>A	ENST00000355832.5	-	20	4083	c.4005G>T	c.(4003-4005)agG>agT	p.R1335S	ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.R705S|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1335					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTTAGAATTCCTTTTCTTAC	0.353000								Direct reversal of damage;Nucleotide excision repair (NER)					7	47					0.00307968	0.00331825	0.278610	1	0
PI4KB	5298	broad.mit.edu	37	1	151288396	151288396	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:151288396C>T	ENST00000368875.2	-	3	1178	c.598G>A	c.(598-600)Gag>Aag	p.E200K	PI4KB_ENST00000368874.4_Missense_Mutation_p.E188K|PI4KB_ENST00000368873.1_Missense_Mutation_p.E188K|PI4KB_ENST00000271657.5_Missense_Mutation_p.E200K|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.E188K	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	188					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CCCACATCCTCATCCATGTGG	0.517000													16	121					0	0	0.624587	0	0
DUSP27	92235	broad.mit.edu	37	1	167096052	167096052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:167096052G>T	ENST00000361200.2	+	6	1850	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	DUSP27_ENST00000271385.5_Nonsense_Mutation_p.G562*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.G562*|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	562					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAAGACTTGGGAGCGGGAGA	0.542000													16	95					4.75885e-15	7.13192e-15	0.520397	1	0
SPATA31A2	642265	broad.mit.edu	37	9	39887511	39887511	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:39887511C>A	ENST00000456183.2	+	4	527	c.498C>A	c.(496-498)gcC>gcA	p.A166A		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		AGGATCTGGCCTCCACCCCAT	0.597000													68	236					1.39159e-27	2.26723e-27	0.870114	1	0
REG3A	5068	broad.mit.edu	37	2	79384732	79384732	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:79384732G>C	ENST00000393878.1	-	4	680	c.426C>G	c.(424-426)agC>agG	p.S142R	REG3A_ENST00000409839.3_Missense_Mutation_p.S142R|REG3A_ENST00000305165.2_Missense_Mutation_p.S142R	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	142	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGTGGCCGGGGCTTGAGATGG	0.547000													12	145					0	0	0.411799	0	0
PDE11A	50940	broad.mit.edu	37	2	178936853	178936853	+	Silent	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:178936853A>G	ENST00000286063.5	-	1	629	c.312T>C	c.(310-312)ggT>ggC	p.G104G	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	104					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCCTGCTGCCACCGGCCCAGC	0.637000									Primary Pigmented Nodular Adrenocortical Disease, Familial				8	54					0	0	0.361761	0	0
ZAN	7455	broad.mit.edu	37	7	100385560	100385560	+	RNA	SNP	C	C	A	rs77416784	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:100385560C>A	ENST00000542585.1	+	0	7174				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCACATTTGACGGCTTCAGCT	0.587000													12	19					0.00010058	0.000114376	0.411799	1	0
CCDC61	729440	broad.mit.edu	37	19	46511486	46511486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:46511486G>T	ENST00000263284.2	+	6	649	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	CCDC61_ENST00000595358.1_Missense_Mutation_p.G160C|CCDC61_ENST00000594087.1_Missense_Mutation_p.G160C|CCDC61_ENST00000536603.1_Missense_Mutation_p.G160C					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GGAGGAACTGGGCCGCCTGCA	0.642000													7	33					2.52707e-12	3.64131e-12	0.335167	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432910	73432910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:73432910C>A	ENST00000263666.4	-	10	2921	c.2807G>T	c.(2806-2808)aGg>aTg	p.R936M	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	936							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)		CCGCACGGGCCTCTTGGTGAT	0.667000													3	41					0.150653	0.153573	0.150653	1	0
SNHG14	104472715	broad.mit.edu	37	15	25430668	25430668	+	RNA	SNP	G	G	T	rs143841678	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:25430668G>T	ENST00000424208.1	+	0	529					NR_003305.1																						TCAGCCTCCCGTGCGCTAAAG	0.602000													7	31					2.0095e-06	2.45071e-06	0.248553	1	0
SEMA4F	10505	broad.mit.edu	37	2	74881608	74881608	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:74881608C>A	ENST00000357877.2	+	1	254	c.105C>A	c.(103-105)cgC>cgA	p.R35R	SEMA4F_ENST00000339773.5_Silent_p.R35R	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	35					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TATCCGGCCGCGTCCCCCGCT	0.741000													4	9					0.150653	0.153573	0.150653	1	0
MYOM3	127294	broad.mit.edu	37	1	24419597	24419597	+	Splice_Site	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:24419597C>T	ENST00000330966.7	-	10	1095	c.931_splice	c.e10-1	p.G311_splice	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Splice_Site_p.G310_splice|MYOM3_ENST00000329601.7_Splice_Site_p.G310_splice			Q5VTT5	MYOM3_HUMAN	myomesin 3	310	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCAGTAGGCTCCCTGTGGAGG	0.617000													7	49					0	0	0.278610	0	0
ZNF256	10172	broad.mit.edu	37	19	58453765	58453765	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:58453765C>A	ENST00000282308.3	-	3	607	c.411G>T	c.(409-411)caG>caT	p.Q137H	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	137					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CATGCTGCTTCTGGTGCTGAT	0.453000													17	154					1.5739e-10	2.19641e-10	0.500413	1	0
CLDN10	9071	broad.mit.edu	37	13	96205224	96205224	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:96205224G>T	ENST00000299339.2	+	1	246	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	73					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GCTGGCGCTGGACGGTCTGCA	0.677000													13	35					6.72482e-11	9.44731e-11	0.479597	1	0
DHRSX	207063	broad.mit.edu	37	X	2161157	2161157	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:2161157C>A	ENST00000334651.5	-	6	763	c.711G>T	c.(709-711)gtG>gtT	p.V237V		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	237							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CGGGGTCCACCACGTTGGCGG	0.637000													13	81					2.62699e-14	3.89878e-14	0.479597	1	0
CD1E	913	broad.mit.edu	37	1	158325656	158325656	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:158325656G>T	ENST00000444681.2	+	3	661	c.368G>T	c.(367-369)gGc>gTc	p.G123V	CD1E_ENST00000368154.1_Missense_Mutation_p.G33V|CD1E_ENST00000368156.1_Missense_Mutation_p.G132V|CD1E_ENST00000434258.1_Missense_Mutation_p.G220V|CD1E_ENST00000452291.2_Missense_Mutation_p.G33V|CD1E_ENST00000368160.3_Missense_Mutation_p.G222V|CD1E_ENST00000368163.3_Missense_Mutation_p.G222V|CD1E_ENST00000368161.3_Missense_Mutation_p.G222V|CD1E_ENST00000368167.3_Missense_Mutation_p.G222V|CD1E_ENST00000368157.1_Missense_Mutation_p.G33V|CD1E_ENST00000368165.3_Missense_Mutation_p.G132V|CD1E_ENST00000368155.3_Missense_Mutation_p.G132V|CD1E_ENST00000368164.3_Missense_Mutation_p.G33V|CD1E_ENST00000368166.3_Missense_Mutation_p.G33V	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	222					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCCAGTCCTGGCCCTGGCCGT	0.582000													6	55					0.00198382	0.00215265	0.248553	1	0
CPOX	1371	broad.mit.edu	37	3	98311891	98311891	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:98311891T>A	ENST00000264193.2	-	1	676	c.458A>T	c.(457-459)gAg>gTg	p.E153V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	153						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AATCAGCAGCTCCATCTTGGT	0.647000													5	25					0	0	0.184627	0	0
ABLIM3	22885	broad.mit.edu	37	5	148632393	148632393	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:148632393G>T	ENST00000506113.1	+	22	2413	c.1931G>T	c.(1930-1932)cGt>cTt	p.R644L	ABLIM3_ENST00000309868.7_Missense_Mutation_p.R644L|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R533L|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R533L|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R130L|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R611L|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R549L			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	644	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGGACCCGTTTAGAGGTA	0.483000													7	100					5.4927e-09	7.37179e-09	0.307466	1	0
ROCK1	6093	broad.mit.edu	37	18	18629053	18629053	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:18629053C>A	ENST00000399799.1	-	4	1354	c.414_splice	c.e4+1	p.Q138_splice		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	138	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AAAGTCATACCTGAACAACCC	0.358000													10	41					5.50884e-06	6.57544e-06	0.411799	1	0
PKD1	5310	broad.mit.edu	37	16	2142138	2142138	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:2142138C>A	ENST00000262304.4	-	40	11529	c.11321G>T	c.(11320-11322)gGa>gTa	p.G3774V	PKD1_ENST00000423118.1_Missense_Mutation_p.G3773V|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3774					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGAAGCCTCCTGCGGCCGA	0.652000													11	24					2.80697e-09	3.80365e-09	0.387290	1	0
ZNF253	56242	broad.mit.edu	37	19	20002572	20002572	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:20002572C>T	ENST00000589717.1	+	4	608	c.516C>T	c.(514-516)ttC>ttT	p.F172F	ZNF253_ENST00000355650.4_Silent_p.F96F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	172					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAAATCTTTTCAAATGTATAA	0.308000													11	31					0	0	0.435327	0	0
PRB1	5542	broad.mit.edu	37	12	11506916	11506916	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:11506916G>T	ENST00000500254.2	-	3	158	c.121C>A	c.(121-123)Cca>Aca	p.P41T	PRB1_ENST00000545626.1_Missense_Mutation_p.P41T|PRB1_ENST00000546254.1_Missense_Mutation_p.P41T	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	224						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGATGGTCCT	0.522000													27	185					5.60225e-13	8.12809e-13	0.740014	1	0
FAT3	120114	broad.mit.edu	37	11	92624032	92624032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:92624032C>G	ENST00000298047.6	+	27	13540	c.13523C>G	c.(13522-13524)cCg>cGg	p.P4508R	FAT3_ENST00000525166.1_Missense_Mutation_p.P4358R|FAT3_ENST00000409404.2_Missense_Mutation_p.P4476R|FAT3_ENST00000533797.1_Missense_Mutation_p.P811R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4508	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGGTGGGCCCGCCTGCCAGC	0.572000										TCGA Ovarian(4;0.039)			12	57					0	0	0.539581	0	0
IL16	3603	broad.mit.edu	37	15	81575070	81575070	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:81575070C>T	ENST00000394660.2	+	9	1532	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	IL16_ENST00000302987.4_Missense_Mutation_p.S391F	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	391	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.S391F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCACCAGGATCCGTGGCGCAC	0.562000													60	321					0	0	0.870114	0	0
PKD2L1	9033	broad.mit.edu	37	10	102049824	102049824	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:102049824G>C	ENST00000318222.3	-	14	2580	c.2198C>G	c.(2197-2199)tCa>tGa	p.S733*	PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.S733*|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.S658*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	733					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.S733*(1)		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)		TTTCAGCTTTGAGCCTACAGC	0.557000													27	126					0	0	0.717897	0	0
PYDC2	152138	broad.mit.edu	37	3	191178999	191178999	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:191178999G>T	ENST00000518817.1	+	1	48	c.48G>T	c.(46-48)gaG>gaT	p.E16D		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	16	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						CTCTTCTGGAGCAGCTCAGCC	0.547000													8	126					1.76689e-08	2.34333e-08	0.335167	1	0
CCDC93	54520	broad.mit.edu	37	2	118705721	118705721	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:118705721T>A	ENST00000376300.2	-	15	1321	c.1184A>T	c.(1183-1185)aAt>aTt	p.N395I	CCDC93_ENST00000319432.5_Missense_Mutation_p.N394I	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	395										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ACTTTTCAGATTTTCATTCAT	0.373000													17	186					0	0	0.592651	0	0
TLK2	11011	broad.mit.edu	37	17	60679483	60679483	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:60679483G>A	ENST00000582809.1	+	20	2057	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TLK2_ENST00000542523.1_Missense_Mutation_p.D569N|TLK2_ENST00000326270.9_Missense_Mutation_p.D623N|TLK2_ENST00000346027.5_Missense_Mutation_p.D601N|TLK2_ENST00000343388.7_Missense_Mutation_p.D569N			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	623					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CATGGATGATGATAGCTACAA	0.388000													18	44					0	0	0.592651	0	0
OR10K2	391107	broad.mit.edu	37	1	158390249	158390249	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:158390249C>A	ENST00000314902.2	-	1	407	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CCCCATGTCCCATTAGCACTG	0.502000													13	122					9.16793e-09	1.22457e-08	0.520397	1	0
CETN1	1068	broad.mit.edu	37	18	580909	580909	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:580909G>A	ENST00000327228.3	+	1	543	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	167	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGATCATGAAGAAGACCAGCC	0.542000													4	62					0	0	0.150653	0	0
CHST2	9435	broad.mit.edu	37	3	142840413	142840413	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:142840413C>G	ENST00000309575.3	+	2	2139	c.755C>G	c.(754-756)gCa>gGa	p.A252G		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	252					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ATCTTCGGCGCAGCCACCAAC	0.652000													6	22					0	0	0.278610	0	0
MUC7	4589	broad.mit.edu	37	4	71347310	71347310	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:71347310C>A	ENST00000413702.1	+	4	1137	c.849C>A	c.(847-849)gcC>gcA	p.A283A	MUC7_ENST00000456088.1_Silent_p.A283A|MUC7_ENST00000304887.5_Silent_p.A283A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	283	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACAGCTGCCCCACCCACAC	0.577000													67	414					3.1711e-36	5.23744e-36	0.870114	1	0
ABCF2	10061	broad.mit.edu	37	7	150916206	150916206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:150916206C>A	ENST00000287844.2	-	8	1070	c.961G>T	c.(961-963)Gag>Tag	p.E321*	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Nonsense_Mutation_p.E321*	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	321	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTTCTCCTCCAGCTCTAGC	0.502000													41	210					1.19451e-25	1.94051e-25	0.870114	1	0
BZRAP1	9256	broad.mit.edu	37	17	56386194	56386194	+	Missense_Mutation	SNP	C	C	A	rs142495996	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:56386194C>A	ENST00000355701.3	-	22	5309	c.4439G>T	c.(4438-4440)cGg>cTg	p.R1480L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1480L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1420L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1480						mitochondrion	benzodiazepine receptor binding	p.R1480Q(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCAGCGCCCGGCCACGGGA	0.677000													13	58					2.32078e-09	3.16522e-09	0.479597	1	0
IBSP	3381	broad.mit.edu	37	4	88732779	88732779	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:88732779C>A	ENST00000226284.5	+	7	738	c.671C>A	c.(670-672)aCc>aAc	p.T224N		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	224					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGCAAGGGCACCTCGAAGACA	0.532000													7	46					0.0381472	0.0395331	0.278610	1	0
FLG	2312	broad.mit.edu	37	1	152284067	152284067	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:152284067G>T	ENST00000368799.1	-	3	3330	c.3295C>A	c.(3295-3297)Cac>Aac	p.H1099N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1099	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCTTGGTGGCTCTGCTGA	0.567000									Ichthyosis				98	589					7.56076e-47	1.25615e-46	0.870114	1	0
PROSER1	80209	broad.mit.edu	37	13	39587389	39587389	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:39587389C>T	ENST00000352251.3	-	11	2833	c.2000G>A	c.(1999-2001)aGt>aAt	p.S667N	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S645N	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	667	Ser-rich.																TAAAGGAGTACTCAAGCTGGA	0.463000													29	77					0	0	0.750413	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666592	19666592	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:19666592C>A	ENST00000284885.3	-	21	2514	c.2481G>T	c.(2479-2481)gtG>gtT	p.V827V		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	827	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTCACCCATACACGCAGTGTG	0.587000													9	45					6.42651e-13	9.31595e-13	0.387290	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698619	111698619	+	Missense_Mutation	SNP	C	C	G	rs144545357		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:111698619C>G	ENST00000340433.2	+	1	893	c.663C>G	c.(661-663)gaC>gaG	p.D221E		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	221							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACATAGTGACAGGCCAGAGC	0.498000													32	86					0	0	0.779181	0	0
NCOA6	23054	broad.mit.edu	37	20	33337487	33337487	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:33337487C>G	ENST00000374796.2	-	10	5081	c.2511G>C	c.(2509-2511)caG>caC	p.Q837H	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q837H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	837	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACTGTTTCCCTGCATGGCCT	0.483000													31	170					0	0	0.819951	0	0
SPEG	10290	broad.mit.edu	37	2	220342800	220342800	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:220342800G>C	ENST00000312358.7	+	22	5132	c.5000G>C	c.(4999-5001)cGc>cCc	p.R1667P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1667	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTCGAGAGGCGCCGGGGACTG	0.612000													12	65					0	0	0.457914	0	0
KIAA0100	9703	broad.mit.edu	37	17	26960962	26960962	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:26960962C>A	ENST00000528896.2	-	17	3287	c.3213G>T	c.(3211-3213)gtG>gtT	p.V1071V	KIAA0100_ENST00000544884.1_Silent_p.V928V|KIAA0100_ENST00000389003.3_Silent_p.V928V|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1071						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCTCCACTGCCACGTTACCCC	0.567000													17	86					1.2644e-06	1.56585e-06	0.592651	1	0
FOXP2	93986	broad.mit.edu	37	7	114282513	114282513	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:114282513G>C	ENST00000393500.3	+	13	1419	c.599G>C	c.(598-600)gGa>gCa	p.G200A	FOXP2_ENST00000378237.3_Missense_Mutation_p.G275A|FOXP2_ENST00000360232.4_Missense_Mutation_p.G275A|FOXP2_ENST00000403559.4_Missense_Mutation_p.G292A|FOXP2_ENST00000350908.4_Missense_Mutation_p.G275A|FOXP2_ENST00000393491.3_Missense_Mutation_p.G183A|FOXP2_ENST00000393498.2_Missense_Mutation_p.G254A|FOXP2_ENST00000408937.3_Missense_Mutation_p.G300A|FOXP2_ENST00000393494.2_Missense_Mutation_p.G275A|FOXP2_ENST00000393489.3_Missense_Mutation_p.G183A|FOXP2_ENST00000390668.3_Missense_Mutation_p.G299A			O15409	FOXP2_HUMAN	forkhead box P2	275	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGTGACTGGAGTTCACAGT	0.413000													14	61					0	0	0.479597	0	0
MMP20	9313	broad.mit.edu	37	11	102487733	102487733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:102487733C>T	ENST00000260228.2	-	2	196	c.184G>A	c.(184-186)Gca>Aca	p.A62T	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	62					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CTTCCTCTTGCAACCATCTCA	0.463000													9	35					0	0	0.361761	0	0
WDR49	151790	broad.mit.edu	37	3	167248912	167248912	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:167248912C>G	ENST00000308378.3	-	9	1458	c.1153G>C	c.(1153-1155)Gca>Cca	p.A385P	WDR49_ENST00000453925.2_Missense_Mutation_p.A449P|WDR49_ENST00000476376.1_Missense_Mutation_p.A210P|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	385										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCTGTCACTGCAGTGTTTTTT	0.358000													4	48					0	0	0.217242	0	0
ZNF366	167465	broad.mit.edu	37	5	71757118	71757118	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:71757118C>A	ENST00000318442.5	-	2	696	c.206G>T	c.(205-207)gGg>gTg	p.G69V		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTCGAAGACCCCGGGGAACCC	0.582000													11	114					7.03913e-09	9.43221e-09	0.411799	1	0
NPR1	4881	broad.mit.edu	37	1	153653761	153653761	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:153653761G>A	ENST00000368680.3	+	3	1499	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	NPR1_ENST00000413826.1_Intron	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	343					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)	CACCATGGAGGATGGCCTGGT	0.522000													7	54					0	0	0.248553	0	0
MYO10	4651	broad.mit.edu	37	5	16754953	16754953	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:16754953T>A	ENST00000513610.1	-	19	2367	c.1913A>T	c.(1912-1914)aAg>aTg	p.K638M		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	638	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATGTTTGGCTTGATACAGCG	0.438000													3	15					0	0	0.115264	0	0
CSMD3	114788	broad.mit.edu	37	8	113266556	113266556	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:113266556C>A	ENST00000297405.5	-	63	10281		c.e63-1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane		p.?(2)		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						TGGGTAGGCTCTAAAATGAAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	141					1.84765e-07	2.37012e-07	0.788014	1	0
PSAPL1	768239	broad.mit.edu	37	4	7435917	7435917	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:7435917C>T	ENST00000319098.4	-	1	783	c.690G>A	c.(688-690)caG>caA	p.Q230Q	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	230	Saposin B-type 2.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GGACAAAAAACTGGAAGAGGT	0.597000													13	59					0	0	0.457914	0	0
XIRP2	129446	broad.mit.edu	37	2	168106746	168106746	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:168106746G>T	ENST00000409195.1	+	9	8933	c.8844G>T	c.(8842-8844)ttG>ttT	p.L2948F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2726F|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2948F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2773					actin cytoskeleton organization	cell junction	actin binding	p.L2948F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGAATTCTTGAGAAAACGTG	0.363000													6	96					1.06961e-07	1.38474e-07	0.278610	1	0
MAPK14	1432	broad.mit.edu	37	6	36041825	36041825	+	Splice_Site	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:36041825G>T	ENST00000229795.3	+	6	894		c.e6-1		MAPK14_ENST00000468133.1_Splice_Site|MAPK14_ENST00000229794.4_Splice_Site|MAPK14_ENST00000310795.4_Splice_Site	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TTGCTTCCTAGGACCTAAAAC	0.373000													10	57					1.3612e-06	1.67709e-06	0.479597	1	0
CHD1	1105	broad.mit.edu	37	5	98224879	98224879	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:98224879A>C	ENST00000284049.3	-	15	2393	c.2244T>G	c.(2242-2244)ttT>ttG	p.F748L		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	748					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATGTTCAAAAAGCCTGAGG	0.343000													7	27					0	0	0.278610	0	0
APOL3	80833	broad.mit.edu	37	22	36537871	36537871	+	Missense_Mutation	SNP	C	C	T	rs140252051	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:36537871C>T	ENST00000397293.2	-	4	720	c.373G>A	c.(373-375)Gct>Act	p.A125T	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000349314.2_Missense_Mutation_p.A196T|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000487423.1_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	196					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CCAGAGGCAGCGCCAGTGGAG	0.562000													8	65					0	0	0.335167	0	0
ZAP70	7535	broad.mit.edu	37	2	98351824	98351824	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:98351824C>A	ENST00000264972.5	+	10	1409	c.1194C>A	c.(1192-1194)atC>atA	p.I398I	ZAP70_ENST00000442208.1_Silent_p.I272I|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.I91I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	398	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACCCCTACATCGTGCGGCTCA	0.632000													33	199					1.59361e-14	2.37559e-14	0.827153	1	0
MRPS6	64968	broad.mit.edu	37	21	35497766	35497766	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:35497766G>C	ENST00000399312.2	+	2	349	c.171G>C	c.(169-171)caG>caC	p.Q57H	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	57					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						ACAGTCAGCAGCACAACAGAG	0.443000													29	118					0	0	0.788014	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450241	85450241	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:85450241T>C	ENST00000393217.2	+	8	1731	c.1670T>C	c.(1669-1671)tTa>tCa	p.L557S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	557										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAGATAATATTAGGACATAAC	0.308000													11	41					0	0	0.457914	0	0
PLG	5340	broad.mit.edu	37	6	161162383	161162383	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:161162383C>G	ENST00000308192.9	+	17	2122	c.2059C>G	c.(2059-2061)Cca>Gca	p.P687A		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	687	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGCTTGTCTGCCATCCCCAAA	0.488000													13	90					0	0	0.457914	0	0
ITGAX	3687	broad.mit.edu	37	16	31373167	31373167	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:31373167C>A	ENST00000268296.4	+	10	1144	c.1023C>A	c.(1021-1023)acC>acA	p.T341T	ITGAX_ENST00000562522.1_Silent_p.T341T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	341					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTACGGAGACCACAAGCAGTA	0.577000													27	220					5.6714e-07	7.12843e-07	0.750413	1	0
RB1CC1	9821	broad.mit.edu	37	8	53540717	53540717	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:53540717C>G	ENST00000025008.5	-	22	5034	c.4511G>C	c.(4510-4512)gGa>gCa	p.G1504A	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.G1504A|RB1CC1_ENST00000435644.2_Missense_Mutation_p.G1504A	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1504					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TACCAAATCTCCCACCTGAAA	0.343000													10	86					0	0	0.411799	0	0
EPHB1	2047	broad.mit.edu	37	3	134880946	134880946	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:134880946G>A	ENST00000398015.3	+	7	1879	c.1509G>A	c.(1507-1509)gtG>gtA	p.V503V	EPHB1_ENST00000493838.1_Silent_p.V64V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	503	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGTATATGTGGTACAGGTGC	0.552000													22	89					0	0	0.667858	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563481	228563481	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:228563481C>A	ENST00000258403.3	-	3	1021	c.950G>T	c.(949-951)gGg>gTg	p.G317V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G313V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	317					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TTCTACGGCCCCATTATAGAT	0.458000													11	111					2.80697e-09	3.80365e-09	0.387290	1	0
BRD7	29117	broad.mit.edu	37	16	50359687	50359687	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:50359687C>T	ENST00000394688.3	-	11	1462	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	BRD7_ENST00000394689.2_Missense_Mutation_p.E435K			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	435					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCAGAGTCTTCCCCATAGGTT	0.343000													11	59					0	0	0.411799	0	0
PLG	5340	broad.mit.edu	37	6	161132202	161132202	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:161132202C>T	ENST00000308192.9	+	4	449	c.386C>T	c.(385-387)tCc>tTc	p.S129F	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.S129F	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	129	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAATGGAGTTCCACTTCTCCC	0.453000													6	48					0	0	0.248553	0	0
CPZ	8532	broad.mit.edu	37	4	8602988	8602988	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:8602988A>C	ENST00000360986.4	+	3	434	c.260A>C	c.(259-261)cAg>cCg	p.Q87P	CPZ_ENST00000315782.6_Missense_Mutation_p.Q76P|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	87	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTTCTACACCAGCTCCTGGAA	0.677000													11	100					0	0	0.435327	0	0
CST11	140880	broad.mit.edu	37	20	23432474	23432474	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:23432474G>T	ENST00000377009.3	-	2	345	c.312C>A	c.(310-312)ccC>ccA	p.P104P	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	104					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCCTTTCCTGGGGGACACAGT	0.502000													8	91					5.68852e-11	8.01825e-11	0.307466	1	0
OLR1	4973	broad.mit.edu	37	12	10313441	10313441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:10313441C>A	ENST00000309539.3	-	4	568	c.508G>T	c.(508-510)Gag>Tag	p.E170*	OLR1_ENST00000543993.1_Intron|OLR1_ENST00000432556.2_Intron|OLR1_ENST00000545927.1_Nonsense_Mutation_p.E170*|OLR1_ENST00000544577.1_Intron	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	170	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						AAGCACTTCTCTTGGCTCTTT	0.438000													28	191					6.38683e-12	9.13257e-12	0.729181	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457292	45457292	+	RNA	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:45457292C>A	ENST00000548424.1	+	0	448																											GGTTGCCTTGCCTTCCTAGGT	0.463000													5	28					0.00307968	0.00331825	0.278610	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47230268	47230268	+	Splice_Site	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:47230268G>A	ENST00000300404.2	+	4	699	c.640_splice	c.e4+1	p.G214_splice	B4GALNT2_ENST00000504681.1_Splice_Site_p.G128_splice|B4GALNT2_ENST00000393354.2_Splice_Site_p.G154_splice	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	214					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCCCATCCCAGGTAAGTACAT	0.592000													6	21					0	0	0.248553	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36269384	36269384	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:36269384C>G	ENST00000007510.4	+	5	433	c.289C>G	c.(289-291)Ctc>Gtc	p.L97V	ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.L97V|ARHGAP33_ENST00000221905.1_3'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	97	PX; atypical.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGGCCGGTTCTCCGGAGTTA	0.627000													30	189					0	0	0.796494	0	0
KHSRP	8570	broad.mit.edu	37	19	6416829	6416829	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:6416829C>A	ENST00000398148.3	-	13	1339	c.1247G>T	c.(1246-1248)gGc>gTc	p.G416V		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	416	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						ATTGCCTTGGCCTCTTCCTCG	0.662000													3	11					0.00024832	0.000278429	0.150653	1	0
ZBTB46	140685	broad.mit.edu	37	20	62421698	62421698	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:62421698G>A	ENST00000245663.4	-	2	563	c.413C>T	c.(412-414)tCa>tTa	p.S138L	ZBTB46_ENST00000395104.1_Missense_Mutation_p.S138L|ZBTB46_ENST00000302995.2_Missense_Mutation_p.S138L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AAGCTCATCTGAGGCGTCCGA	0.622000													7	37					0	0	0.307466	0	0
UCK2	7371	broad.mit.edu	37	1	165860550	165860550	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:165860550C>T	ENST00000367879.4	+	3	650	c.347C>T	c.(346-348)tCc>tTc	p.S116F	UCK2_ENST00000372212.4_Missense_Mutation_p.S116F	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	116					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GACTTTGTCTCCCATTCCCGG	0.502000													9	64					0	0	0.411799	0	0
TRPA1	8989	broad.mit.edu	37	8	72983976	72983976	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:72983976C>A	ENST00000262209.4	-	2	445	c.238G>T	c.(238-240)Gag>Tag	p.E80*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	80						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTGATCTTCTCCATTAGCTCA	0.343000													4	54					0.00909568	0.00960353	0.150653	1	0
PDE4DIP	9659	broad.mit.edu	37	1	145075750	145075750	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:145075750C>T	ENST00000369359.4	-	1	151	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R38Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		CTGAGGGGTTCGCGTCGCGTC	0.731000			T	PDGFRB	MPD								9	128					0	0	0.335167	0	0
B2M	567	broad.mit.edu	37	15	45003799	45003799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:45003799G>T	ENST00000558401.1	+	1	125	c.55G>T	c.(55-57)Gag>Tag	p.E19*	B2M_ENST00000559916.1_Nonsense_Mutation_p.E19*|B2M_ENST00000544417.1_Nonsense_Mutation_p.E19*	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	19					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TTCTGGCCTGGAGGCTATCCA	0.637000													11	83					2.27111e-07	2.89129e-07	0.411799	1	0
CEACAM4	1089	broad.mit.edu	37	19	42125735	42125735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:42125735G>T	ENST00000221954.2	-	7	813	c.703C>A	c.(703-705)Cag>Aag	p.Q235K		NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	235						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TGGTCGATCTGGCAGTAAATG	0.532000													18	135					3.62473e-10	5.0292e-10	0.608945	1	0
IGSF10	285313	broad.mit.edu	37	3	151166890	151166890	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:151166890C>G	ENST00000282466.3	-	4	878	c.879G>C	c.(877-879)ctG>ctC	p.L293L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	293					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGAATAGTCAGGCTCTTTG	0.478000													4	107					0	0	0.217242	0	0
ZNF80	7634	broad.mit.edu	37	3	113955683	113955683	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:113955683T>G	ENST00000482457.2	-	1	742	c.239A>C	c.(238-240)cAg>cCg	p.Q80P		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	80						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCCACACTCCTGGCATTCATA	0.502000													5	21					0	0	0.217242	0	0
TG	7038	broad.mit.edu	37	8	133899653	133899653	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:133899653G>T	ENST00000220616.4	+	9	2076	c.2036G>T	c.(2035-2037)gGc>gTc	p.G679V	TG_ENST00000377869.1_Missense_Mutation_p.G679V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	679	Thyroglobulin type-1 6.				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)		CAGCCTGCTGGCTCCACCTTG	0.562000													23	72					8.58068e-18	1.33099e-17	0.717897	1	0
SLFN5	162394	broad.mit.edu	37	17	33586312	33586312	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:33586312G>A	ENST00000299977.4	+	2	751	c.603G>A	c.(601-603)tcG>tcA	p.S201S	SLFN5_ENST00000592325.1_Silent_p.S201S|SLFN5_ENST00000542451.1_Silent_p.S201S	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	201					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TAATGTTCTCGACAGACGTGT	0.398000													13	180					0	0	0.457914	0	0
CHRM2	1129	broad.mit.edu	37	7	136700753	136700753	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:136700753C>A	ENST00000445907.2	+	3	1669	c.1141C>A	c.(1141-1143)Cgg>Agg	p.R381R	AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Silent_p.R381R|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Silent_p.R381R|CHRM2_ENST00000320658.5_Silent_p.R381R|CHRM2_ENST00000397608.3_Silent_p.R381R|CHRM2_ENST00000402486.3_Silent_p.R381R|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	381					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCCTCCTTCCCGGGAAAAGAA	0.463000													7	45					5.18039e-06	6.22757e-06	0.278610	1	0
MTOR	2475	broad.mit.edu	37	1	11217283	11217283	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:11217283C>G	ENST00000361445.4	-	30	4471	c.4395G>C	c.(4393-4395)aaG>aaC	p.K1465N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1465	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGTCCATTTTCTTGTCATAGG	0.542000													8	119					0	0	0.278610	0	0
RYR1	6261	broad.mit.edu	37	19	39023333	39023333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:39023333G>T	ENST00000355481.4	+	77	11332	c.11201G>T	c.(11200-11202)gGg>gTg	p.G3734V	RYR1_ENST00000360985.3_Missense_Mutation_p.G3739V|RYR1_ENST00000359596.3_Missense_Mutation_p.G3739V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3739					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)	GAGGAGGGAGGGGAGAACGGT	0.602000													13	56					4.14922e-12	5.94815e-12	0.500413	1	0
STMN3	50861	broad.mit.edu	37	20	62275238	62275238	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:62275238G>T	ENST00000370053.1	-	3	243	c.162C>A	c.(160-162)ttC>ttA	p.F54L	STMN3_ENST00000540534.1_Missense_Mutation_p.F43L	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	54					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GGATGACCTCGAAGCTCTGGC	0.617000													37	120					1.61572e-30	2.65036e-30	0.853193	1	0
MPI	4351	broad.mit.edu	37	15	75185534	75185534	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:75185534G>A	ENST00000352410.4	+	5	610	c.543G>A	c.(541-543)caG>caA	p.Q181Q	MPI_ENST00000563422.1_Silent_p.Q181Q|MPI_ENST00000564003.1_Intron|MPI_ENST00000535694.1_Silent_p.Q131Q|MPI_ENST00000562606.1_Silent_p.Q161Q|MPI_ENST00000565576.1_Silent_p.Q181Q|MPI_ENST00000566377.1_Silent_p.Q181Q|MPI_ENST00000323744.6_Intron|MPI_ENST00000563786.1_Silent_p.Q161Q			P34949	MPI_HUMAN	mannose phosphate isomerase	181					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ACCTGAAGCAGACCATGAGCC	0.542000													8	88					0	0	0.307466	0	0
FAM71A	149647	broad.mit.edu	37	1	212799027	212799027	+	Missense_Mutation	SNP	C	C	A	rs147485449		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:212799027C>A	ENST00000294829.3	+	1	1239	c.808C>A	c.(808-810)Cca>Aca	p.P270T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	270										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGCTGAGGAGCCAGCAACAGG	0.542000													22	96					1.40151e-16	2.14626e-16	0.592651	1	0
SEMA3C	10512	broad.mit.edu	37	7	80374536	80374536	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:80374536T>A	ENST00000265361.3	-	18	2491	c.1930A>T	c.(1930-1932)Att>Ttt	p.I644F	SEMA3C_ENST00000419255.2_Missense_Mutation_p.I644F|SEMA3C_ENST00000544525.1_Missense_Mutation_p.I662F	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	644	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCTGTAGCAATGCAGTGATAA	0.433000													12	56					0	0	0.411799	0	0
HOXD12	3238	broad.mit.edu	37	2	176964640	176964640	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:176964640C>A	ENST00000406506.2	+	1	183	c.111C>A	c.(109-111)gcC>gcA	p.A37A	HOXD12_ENST00000404162.2_Silent_p.A37A			P35452	HXD12_HUMAN	homeobox D12	37				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GCCAGTTGGCCGCGCTTCCCC	0.697000													7	71					1.06961e-07	1.38474e-07	0.278610	1	0
PRKCSH	5589	broad.mit.edu	37	19	11560097	11560097	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:11560097G>T	ENST00000252455.2	+	17	1793	c.1457G>T	c.(1456-1458)gGg>gTg	p.G486V	PRKCSH_ENST00000587327.1_Missense_Mutation_p.G483V|PRKCSH_ENST00000591462.1_Missense_Mutation_p.G483V|PRKCSH_ENST00000589838.1_Missense_Mutation_p.G486V|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G493V|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G483V	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	486					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CTCCTGTGCGGGAAAGAGACC	0.692000													17	79					8.10497e-08	1.05496e-07	0.592651	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307520	39307520	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:39307520C>T	ENST00000541347.1	-	2	720	c.481G>A	c.(481-483)Gca>Aca	p.A161T	CX3CR1_ENST00000399220.2_Missense_Mutation_p.A161T|CX3CR1_ENST00000542107.1_Missense_Mutation_p.A161T|CX3CR1_ENST00000358309.3_Missense_Mutation_p.A193T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	161					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TGGGGTGCTGCCACCAAAATG	0.577000													25	98					0	0	0.681144	0	0
MYH1	4619	broad.mit.edu	37	17	10419289	10419289	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:10419289G>T	ENST00000226207.5	-	5	553	c.459C>A	c.(457-459)ccC>ccA	p.P153P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	153	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGAAGATGTGGGGTGGGGCCT	0.483000													40	205					2.23044e-30	3.65514e-30	0.870114	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554543	140554543	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140554543G>T	ENST00000231137.3	+	1	2301	c.2127G>T	c.(2125-2127)gtG>gtT	p.V709V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		709					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTGGCGGTGCGGCTGTGCA	0.697000													21	470					6.12954e-19	9.63213e-19	0.681144	1	0
IQUB	154865	broad.mit.edu	37	7	123092863	123092863	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:123092863C>A	ENST00000466202.1	-	13	2886	c.2310G>T	c.(2308-2310)gaG>gaT	p.E770D	IQUB_ENST00000324698.6_Missense_Mutation_p.E770D			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	770										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCCATCTGATCTCATCAATTT	0.388000													7	24					0.00307968	0.00331825	0.278610	1	0
CSMD2	114784	broad.mit.edu	37	1	34192210	34192210	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:34192210G>T	ENST00000373381.4	-	16	2621	c.2445C>A	c.(2443-2445)gcC>gcA	p.A815A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	775	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGCTCAAGGCATCCTTGT	0.622000													12	67					1.49906e-05	1.76181e-05	0.457914	1	0
GMEB2	26205	broad.mit.edu	37	20	62234398	62234398	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:62234398G>A	ENST00000266068.1	-	3	755	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	GMEB2_ENST00000370077.1_Missense_Mutation_p.P93S|GMEB2_ENST00000370069.1_Missense_Mutation_p.P42S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	93	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CAGGTGATGGGGTACACAATC	0.502000													13	102					0	0	0.500413	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526088	176526088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:176526088G>T	ENST00000367662.3	+	2	1794	c.630G>T	c.(628-630)caG>caT	p.Q210H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Q210H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	210					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						AAGATGGGCAGGGAGACTCCG	0.557000													16	119					1.3612e-06	1.67709e-06	0.479597	1	0
PTPRD	5789	broad.mit.edu	37	9	8486043	8486043	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:8486043A>C	ENST00000381196.4	-	25	3317	c.2774T>G	c.(2773-2775)cTt>cGt	p.L925R	PTPRD_ENST00000358503.5_Missense_Mutation_p.L903R|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L925R|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L925R|PTPRD_ENST00000360074.4_Missense_Mutation_p.L912R|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	925	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L925H(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTGAGTGAAGGTTTTGAGG	0.478000										TSP Lung(15;0.13)			14	40					0	0	0.520397	0	0
TRIM17	51127	broad.mit.edu	37	1	228596765	228596765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:228596765G>T	ENST00000456946.2	-	6	1366	c.991C>A	c.(991-993)Ctg>Atg	p.L331M	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366697.2_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TCACCAGGCAGTGCACTTGTA	0.582000													7	25					8.12818e-05	9.28069e-05	0.248553	1	0
SLIT2	9353	broad.mit.edu	37	4	20259529	20259529	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:20259529G>C	ENST00000504154.1	+	3	542	c.290G>C	c.(289-291)gGa>gCa	p.G97A	SLIT2_ENST00000503837.1_Missense_Mutation_p.G97A|SLIT2_ENST00000273739.5_Missense_Mutation_p.G97A|SLIT2_ENST00000503823.1_Missense_Mutation_p.G97A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	97					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTGAAAGAGGAGCATTCCAG	0.303000													29	136					0	0	0.779181	0	0
FCGBP	8857	broad.mit.edu	37	19	40433636	40433636	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:40433636C>A	ENST00000221347.6	-	2	640	c.633G>T	c.(631-633)ggG>ggT	p.G211G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	211	IgGFc-binding.					extracellular region	protein binding	p.G211G(1)		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)			TGACCTTTGACCCCGAGAGAT	0.547000													20	101					4.16121e-05	4.80997e-05	0.639603	1	0
DOCK1	1793	broad.mit.edu	37	10	128797638	128797638	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:128797638G>T	ENST00000280333.6	+	9	897	c.788G>T	c.(787-789)tGg>tTg	p.W263L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	263					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTGGTTCGCTGGTCCAGTTCA	0.378000													4	46					0.184627	0.187411	0.184627	1	0
ZP4	57829	broad.mit.edu	37	1	238051686	238051686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:238051686C>A	ENST00000366570.4	-	4	683	c.525G>T	c.(523-525)gaG>gaT	p.E175D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	175	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGAATTCACCTCTTCAGAGC	0.512000													19	90					5.3912e-06	6.46714e-06	0.539581	1	0
ANKIB1	54467	broad.mit.edu	37	7	92017137	92017137	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:92017137A>C	ENST00000265742.3	+	13	2154	c.1778A>C	c.(1777-1779)cAg>cCg	p.Q593P		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	593							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAACGATTTCAGGAACTTGAC	0.318000													5	16					0	0	0.217242	0	0
NEU4	129807	broad.mit.edu	37	2	242755756	242755756	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:242755756C>A	ENST00000391969.2	+	3	786	c.75C>A	c.(73-75)ccC>ccA	p.P25P	NEU4_ENST00000407683.1_Silent_p.P25P|NEU4_ENST00000405370.1_Silent_p.P25P|NEU4_ENST00000404257.1_Silent_p.P37P|NEU4_ENST00000325935.6_Silent_p.P38P	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	25						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACCGCGTGCCCTCGCTGCTCC	0.701000													8	45					6.40141e-05	7.35398e-05	0.387290	1	0
FOXL2	668	broad.mit.edu	37	3	138665258	138665258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:138665258G>T	ENST00000330315.3	-	1	724	c.307C>A	c.(307-309)Cgc>Agc	p.R103S		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	103			R -> C (in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity).		convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						AGGTTGTGGCGGATGCTATTT	0.602000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						4	41					5.9392e-07	7.42621e-07	0.217242	1	0
COPA	1314	broad.mit.edu	37	1	160259998	160259998	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:160259998C>G	ENST00000241704.7	-	33	3853	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	COPA_ENST00000368069.3_Missense_Mutation_p.E1217D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1208					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTTGCCAATCTCTGTCACCT	0.443000													87	457					0	0	0.870114	0	0
MYL5	4636	broad.mit.edu	37	4	675782	675782	+	Nonstop_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:675782G>C	ENST00000506838.1	+	8	2922	c.398G>C	c.(397-399)tGa>tCa	p.*133S	MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000347950.5_Missense_Mutation_p.H431D|MFSD7_ENST00000322224.4_Missense_Mutation_p.H549D|MFSD7_ENST00000404286.2_Missense_Mutation_p.H550D|MYL5_ENST00000511290.1_Nonstop_Mutation_p.*133S|MFSD7_ENST00000515118.1_Missense_Mutation_p.H453D|MYL5_ENST00000505477.1_Nonstop_Mutation_p.*133S|MYL5_ENST00000400159.2_Nonstop_Mutation_p.*174S			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	0	EF-hand 2.				regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						AAGGAGGAGTGAGACCCAGCC	0.657000													7	31					0	0	0.387290	0	0
TMC8	147138	broad.mit.edu	37	17	76134765	76134765	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:76134765A>G	ENST00000318430.5	+	14	2149	c.1775A>G	c.(1774-1776)cAc>cGc	p.H592R	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.H369R	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	592						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CGTGCCCTCCACTACCTGGGC	0.672000													31	62					0	0	0.750413	0	0
LGALS9	3965	broad.mit.edu	37	17	25975922	25975922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:25975922G>T	ENST00000395473.2	+	11	2450	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	LGALS9_ENST00000413914.2_Missense_Mutation_p.L216F|LGALS9_ENST00000313648.6_Missense_Mutation_p.L241F|LGALS9_ENST00000310394.5_Nonsense_Mutation_p.E284*|LGALS9_ENST00000302228.5_Nonsense_Mutation_p.E296*	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	328	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCACCTGTTTGAATACTACCA	0.562000													68	354					2.6465e-34	4.35392e-34	0.870114	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821825	5821825	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:5821825C>A	ENST00000381095.3	-	5	1521	c.894G>T	c.(892-894)cgG>cgT	p.R298R	NLGN4X_ENST00000381092.1_Silent_p.R298R|NLGN4X_ENST00000381093.2_Silent_p.R318R|NLGN4X_ENST00000275857.6_Silent_p.R298R|NLGN4X_ENST00000538097.1_Silent_p.R298R	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	298					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTGCCAATATCCGAGTGTACT	0.552000													19	50					1.87028e-06	2.29089e-06	0.608945	1	0
FBLN7	129804	broad.mit.edu	37	2	112940452	112940452	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:112940452G>C	ENST00000331203.2	+	6	1026	c.755G>C	c.(754-756)cGt>cCt	p.R252P	FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409903.1_Missense_Mutation_p.R252P|FBLN7_ENST00000409450.3_Missense_Mutation_p.R206P	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	252	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGCTCTTACCGTTGCACCTGC	0.642000													11	108					0	0	0.387290	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854331	79854331	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:79854331A>T	ENST00000338682.3	-	5	2180	c.1508T>A	c.(1507-1509)tTg>tAg	p.L503*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	503						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTCAGTTTGCAATGATTGTCT	0.333000													3	55					0	0	0.150653	0	0
C15orf26	161502	broad.mit.edu	37	15	81440836	81440836	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:81440836C>A	ENST00000286732.4	+	7	951	c.868C>A	c.(868-870)Cga>Aga	p.R290R		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	290										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						AGAGGACACTCGAGCCATGGA	0.532000													13	114					0.000308642	0.000344231	0.479597	1	0
CDYL2	124359	broad.mit.edu	37	16	80666916	80666916	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:80666916C>A	ENST00000299564.8	-	3	989	c.834_splice	c.e3+1	p.E278_splice	CDYL2_ENST00000562812.1_Splice_Site_p.E279_splice|CDYL2_ENST00000563890.1_Splice_Site_p.E279_splice|CDYL2_ENST00000566173.1_Splice_Site_p.E279_splice	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	278						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CACCCCTTACCTCAGGTGTCA	0.557000													8	84					2.27111e-07	2.89129e-07	0.411799	1	0
BEST3	144453	broad.mit.edu	37	12	70065277	70065277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:70065277C>A	ENST00000330891.5	-	9	1257	c.1031G>T	c.(1030-1032)cGc>cTc	p.R344L	BEST3_ENST00000553096.1_Missense_Mutation_p.R238L|BEST3_ENST00000331471.4_Missense_Mutation_p.R344L|BEST3_ENST00000488961.1_Missense_Mutation_p.R131L|BEST3_ENST00000476098.1_Missense_Mutation_p.R131L	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	344						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTATGGTGGGCGAGCAGCAGA	0.423000													13	85					2.23348e-06	2.71994e-06	0.500413	1	0
ACTR8	93973	broad.mit.edu	37	3	53908366	53908366	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:53908366C>G	ENST00000335754.3	-	8	1037	c.937G>C	c.(937-939)Gat>Cat	p.D313H	ACTR8_ENST00000482349.1_Missense_Mutation_p.D202H|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	313					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTTGACACATCAGATCCTCCG	0.403000													4	52					0	0	0.184627	0	0
TUB	7275	broad.mit.edu	37	11	8060569	8060569	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:8060569G>A	ENST00000305253.4	+	1	390	c.149G>A	c.(148-150)aGa>aAa	p.R50K	RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000528151.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGCCACCGAAGAGATCGGTAA	0.577000													7	28					0	0	0.307466	0	0
OR8D2	283160	broad.mit.edu	37	11	124189534	124189534	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:124189534A>C	ENST00000357438.2	-	1	650	c.560T>G	c.(559-561)cTg>cGg	p.L187R		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GGAGCAAGACAGAGTCAATAA	0.443000													19	72					0	0	0.608945	0	0
CLCA4	22802	broad.mit.edu	37	1	87040251	87040251	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:87040251G>T	ENST00000370563.3	+	10	1538	c.1496G>T	c.(1495-1497)aGt>aTt	p.S499I	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	499						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACACTGAATAGTAATGCCTGG	0.358000													10	103					3.03607e-14	4.49798e-14	0.411799	1	0
EFCAB5	374786	broad.mit.edu	37	17	28380300	28380300	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:28380300A>T	ENST00000394835.3	+	10	1520	c.1328A>T	c.(1327-1329)aAc>aTc	p.N443I	EFCAB5_ENST00000320856.5_Missense_Mutation_p.N443I|EFCAB5_ENST00000378738.3_Missense_Mutation_p.N443I|EFCAB5_ENST00000541045.1_Missense_Mutation_p.N100I|EFCAB5_ENST00000536908.2_Missense_Mutation_p.N387I|EFCAB5_ENST00000394832.2_Missense_Mutation_p.N443I	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	443							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAAGAGATAAACTTGACTGAG	0.323000													29	130					0	0	0.740014	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335827	20335827	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:20335827T>A	ENST00000377252.3	+	3	1195	c.354T>A	c.(352-354)tcT>tcA	p.S118S	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Intron	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	118						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTATATATCTCGAATATATG	0.328000													23	120					0	0	0.729181	0	0
OR5B2	390190	broad.mit.edu	37	11	58189950	58189950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:58189950G>T	ENST00000302581.2	-	1	836	c.785C>A	c.(784-786)tCc>tAc	p.S262Y		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S262Y(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGAGTGGCTGGAGCTGGGCTG	0.502000													11	59					3.03607e-14	4.49798e-14	0.411799	1	0
MCCC1	56922	broad.mit.edu	37	3	182733250	182733250	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:182733250T>C	ENST00000492597.1	-	18	2529	c.1827A>G	c.(1825-1827)gaA>gaG	p.E609E	MCCC1_ENST00000265594.4_Silent_p.E718E			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	718					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TTTTGTCTGATTCTTCCTCCT	0.453000													46	144					0	0	0.870114	0	0
USP34	9736	broad.mit.edu	37	2	61438969	61438969	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:61438969T>A	ENST00000398571.2	-	69	8854	c.8778A>T	c.(8776-8778)aaA>aaT	p.K2926N	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2926					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTATGGTTGTTTTCTTGAACT	0.353000													4	26					0	0	0.150653	0	0
ZNF436	80818	broad.mit.edu	37	1	23693626	23693626	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:23693626G>A	ENST00000314011.4	-	3	205	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ZNF436_ENST00000374608.3_Silent_p.L23L|ZNF436_ENST00000374609.1_Silent_p.L23L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTTCCCGGGTGAGATACATGG	0.433000													6	97					0	0	0.248553	0	0
ASH1L	55870	broad.mit.edu	37	1	155319162	155319162	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:155319162C>T	ENST00000368346.3	-	19	8164	c.7525G>A	c.(7525-7527)Gaa>Aaa	p.E2509K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E2504K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2509	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAAAAGCTTCCACTGTCTTA	0.383000													9	63					0	0	0.361761	0	0
NRG4	145957	broad.mit.edu	37	15	76248310	76248310	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:76248310G>A	ENST00000394907.3	-	5	475	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	98						extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						CTACCAGGTTGATATCATACT	0.408000													10	79					0	0	0.411799	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886179	144886179	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:144886179C>G	ENST00000369359.4	-	26	3504	c.3466G>C	c.(3466-3468)Gag>Cag	p.E1156Q	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1019Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1156Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1019Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1085Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1019					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)		TTCCTCTTCTCTTCTAAGTGC	0.512000			T	PDGFRB	MPD								8	169					0	0	0.278610	0	0
NR1I3	9970	broad.mit.edu	37	1	161200619	161200619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:161200619G>A	ENST00000367983.4	-	8	1195	c.901C>T	c.(901-903)Cga>Tga	p.R301*	NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000511748.1_3'UTR|NR1I3_ENST00000367979.2_Nonsense_Mutation_p.R310*|NR1I3_ENST00000437437.2_Nonsense_Mutation_p.R272*|NR1I3_ENST00000508740.1_Nonsense_Mutation_p.R277*|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000412844.2_Nonsense_Mutation_p.R281*|NR1I3_ENST00000367985.3_Nonsense_Mutation_p.R267*|NR1I3_ENST00000506209.1_Nonsense_Mutation_p.R272*|NR1I3_ENST00000505005.1_Nonsense_Mutation_p.R262*|NR1I3_ENST00000504010.1_Nonsense_Mutation_p.R233*|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000442691.2_Nonsense_Mutation_p.R305*|NR1I3_ENST00000367980.2_Nonsense_Mutation_p.R310*|NR1I3_ENST00000428574.2_Nonsense_Mutation_p.R306*|NR1I3_ENST00000515621.1_Nonsense_Mutation_p.R226*|NR1I3_ENST00000367981.3_Nonsense_Mutation_p.R277*|NR1I3_ENST00000367982.4_Nonsense_Mutation_p.R305*|NR1I3_ENST00000512372.1_Nonsense_Mutation_p.R233*|NR1I3_ENST00000367984.4_Nonsense_Mutation_p.R262*|NR1I3_ENST00000511944.1_3'UTR|NR1I3_ENST00000511676.1_Nonsense_Mutation_p.R272*			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	305					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CGGGGCCTTCGCTGCTGGCCC	0.547000													11	77					0	0	0.457914	0	0
SAA2	6289	broad.mit.edu	37	11	18269490	18269490	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:18269490C>A	ENST00000414546.2	-	2	113	c.69G>T	c.(67-69)tcG>tcT	p.S23S	SAA2_ENST00000529528.1_Silent_p.S23S|SAA2_ENST00000530400.1_Silent_p.S23S|SAA2_ENST00000526900.1_Silent_p.S23S|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Silent_p.S23S|SAA2_ENST00000256733.4_Silent_p.S23S	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CGCCAAGGAACGAAAAGAAGC	0.493000													15	53					6.49762e-13	9.40283e-13	0.539581	1	0
DSCAML1	57453	broad.mit.edu	37	11	117308714	117308714	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:117308714G>C	ENST00000321322.6	-	25	4510	c.4509C>G	c.(4507-4509)gaC>gaG	p.D1503E	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D1233E	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1443	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACTTGAGGCTGTCCAGCTTGA	0.607000													6	57					0	0	0.307466	0	0
RRAGC	64121	broad.mit.edu	37	1	39322579	39322579	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:39322579C>A	ENST00000373001.3	-	2	589	c.413G>T	c.(412-414)gGa>gTa	p.G138V		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	138					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				TATCAATGCTCCTGTTCCCCT	0.403000													14	105					1.05317e-09	1.44811e-09	0.457914	1	0
KIAA0100	9703	broad.mit.edu	37	17	26961534	26961534	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:26961534C>A	ENST00000528896.2	-	16	3145		c.e16+1		KIAA0100_ENST00000544884.1_Splice_Site|KIAA0100_ENST00000389003.3_Splice_Site|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACACTACTTACCCAGAAAGCT	0.488000													12	76					0.00316338	0.00340407	0.479597	1	0
FER1L6	654463	broad.mit.edu	37	8	125113375	125113375	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:125113375G>C	ENST00000522917.1	+	38	5127	c.4921G>C	c.(4921-4923)Gat>Cat	p.D1641H	FER1L6_ENST00000399018.1_Missense_Mutation_p.D1641H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1641	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCAGGAGACAGATGTGCATTA	0.428000													13	122					0	0	0.500413	0	0
ATP1A2	477	broad.mit.edu	37	1	160093180	160093180	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:160093180A>T	ENST00000361216.3	+	4	444	c.355A>T	c.(355-357)Atg>Ttg	p.M119L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.M119L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	119					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)			CCAGGCTGCCATGGAGGATGA	0.607000													52	290					0	0	0.870114	0	0
ZNF816	125893	broad.mit.edu	37	19	53432467	53432467	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:53432467C>T	ENST00000549216.1	-	2	254	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ZNF816_ENST00000434371.2_Missense_Mutation_p.E131K|ZNF321P_ENST00000391777.3_Missense_Mutation_p.E131K|ZNF816-ZNF321P_ENST00000313956.4_RNA	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	131	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTTTGATTTCTGTCATGGGT	0.408000													48	276					0	0	0.870114	0	0
NXF3	56000	broad.mit.edu	37	X	102339811	102339811	+	Splice_Site	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:102339811C>T	ENST00000395065.3	-	2	130	c.28_splice	c.e2-1	p.G10_splice	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Intron	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	10						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATCAGTGTGACCTTAAATTAA	0.328000													35	72					0	0	0.796494	0	0
CORO7	79585	broad.mit.edu	37	16	4410488	4410488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:4410488C>A	ENST00000251166.4	-	20	2124	c.1979G>T	c.(1978-1980)cGt>cTt	p.R660L	CORO7_ENST00000539968.1_Missense_Mutation_p.R440L|CORO7_ENST00000574025.1_Missense_Mutation_p.R575L|CORO7_ENST00000537233.2_Missense_Mutation_p.R642L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R660L|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GACCCGCACACGCCCATCCTT	0.652000													7	14					0.00621372	0.00661042	0.335167	1	0
FAT4	79633	broad.mit.edu	37	4	126336866	126336866	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:126336866C>G	ENST00000394329.3	+	5	6761	c.6748C>G	c.(6748-6750)Ctg>Gtg	p.L2250V	FAT4_ENST00000335110.5_Missense_Mutation_p.L548V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2250	Cadherin 21.				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						CATTGTTCTACTGGATATTAA	0.428000													13	81					0	0	0.411799	0	0
SLC22A23	63027	broad.mit.edu	37	6	3324113	3324113	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:3324113T>A	ENST00000436008.2	-	4	1499	c.1037A>T	c.(1036-1038)cAg>cTg	p.Q346L	SLC22A23_ENST00000490273.1_Missense_Mutation_p.Q65L|SLC22A23_ENST00000433689.2_5'UTR|SLC22A23_ENST00000380298.2_Missense_Mutation_p.Q346L|SLC22A23_ENST00000380302.4_Missense_Mutation_p.Q65L|SLC22A23_ENST00000406686.3_Missense_Mutation_p.Q346L			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	346					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GATGAGGGCCTGCAGCACCTG	0.612000													4	27					0	0	0.184627	0	0
SCN10A	6336	broad.mit.edu	37	3	38764924	38764924	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:38764924C>T	ENST00000449082.2	-	18	3348	c.3349G>A	c.(3349-3351)Gaa>Aaa	p.E1117K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1117					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCTTCACCTTCTGTGAAGCAG	0.537000													13	86					0	0	0.435327	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490186	37490186	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:37490186G>A	ENST00000374660.1	+	37	3090	c.2991G>A	c.(2989-2991)caG>caA	p.Q997Q	ANKRD30A_ENST00000602533.1_Silent_p.Q878Q|ANKRD30A_ENST00000361713.1_Silent_p.Q878Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1023						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						CTGTTTCACAGAAGGATGTGT	0.289000													9	73					0	0	0.411799	0	0
OR2T4	127074	broad.mit.edu	37	1	248525708	248525708	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:248525708C>A	ENST00000366475.1	+	1	826	c.826C>A	c.(826-828)Cac>Aac	p.H276N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTGCTCCTCCCACCTGACTGT	0.532000													20	142					1.55795e-14	2.32449e-14	0.608945	1	0
USP25	29761	broad.mit.edu	37	21	17250751	17250751	+	Missense_Mutation	SNP	G	G	A	rs150189440		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:17250751G>A	ENST00000285681.2	+	25	3590	c.3221G>A	c.(3220-3222)cGa>cAa	p.R1074Q	USP25_ENST00000351097.5_Missense_Mutation_p.R437Q|USP25_ENST00000285679.6_Missense_Mutation_p.R1042Q|USP25_ENST00000400183.2_Missense_Mutation_p.R1112Q			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1042					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CGATTTGCCCGAATCATGTTG	0.428000													3	48					0	0	0.150653	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178554960	178554960	+	Splice_Site	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:178554960C>T	ENST00000251582.7	-	17	2718	c.2617_splice	c.e17+1	p.G873_splice		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	873	TSP type-1 2.				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)		ACCCCCTCACCTCCGCCACAG	0.632000													26	139					0	0	0.729181	0	0
AACS	65985	broad.mit.edu	37	12	125619373	125619373	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:125619373C>T	ENST00000545511.1	+	6	5379	c.392C>T	c.(391-393)tCg>tTg	p.S131L	AACS_ENST00000316519.6_Silent_p.F551F|AACS_ENST00000261686.6_Silent_p.F551F|AACS_ENST00000316543.10_Silent_p.F149F|AACS_ENST00000543665.1_Missense_Mutation_p.S51L			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGGTGCGGTTCGGCAGCTCGG	0.627000													13	39					0	0	0.539581	0	0
EXTL3	2137	broad.mit.edu	37	8	28608213	28608213	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:28608213C>G	ENST00000220562.4	+	7	3492	c.2590C>G	c.(2590-2592)Cag>Gag	p.Q864E	EXTL3_ENST00000523149.1_Missense_Mutation_p.Q480E|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	864						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGGATGCCCTCAGGCCCTGTC	0.557000													18	137					0	0	0.608945	0	0
CEBPE	1053	broad.mit.edu	37	14	23586830	23586830	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:23586830C>T	ENST00000206513.5	-	2	1236	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GCCATGTACTCCAGCACCTTC	0.642000													8	65					0	0	0.361761	0	0
PRPF31	26121	broad.mit.edu	37	19	54634744	54634744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:54634744G>T	ENST00000321030.4	+	14	1730	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*	PRPF31_ENST00000391755.1_Nonsense_Mutation_p.E455*|PRPF31_ENST00000419967.1_Missense_Mutation_p.G438V	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	461					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAGGGCCTGGAGATTGTGAA	0.592000													16	80					8.28177e-16	1.25457e-15	0.557998	1	0
LY75	4065	broad.mit.edu	37	2	160673334	160673334	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:160673334C>A	ENST00000263636.4	-	30	4390	c.4363G>T	c.(4363-4365)Ggg>Tgg	p.G1455W	LY75_ENST00000554112.1_Missense_Mutation_p.G1455W|LY75_ENST00000553424.1_Missense_Mutation_p.G1455W|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G1455W|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G1455W	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTGAGAGCCCAACCCATAGT	0.393000													7	64					3.09899e-07	3.9215e-07	0.307466	1	0
ATP1A2	477	broad.mit.edu	37	1	160098507	160098507	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:160098507G>A	ENST00000361216.3	+	9	1172	c.1083G>A	c.(1081-1083)gcG>gcA	p.A361A	ATP1A2_ENST00000392233.3_Silent_p.A361A|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	361					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)			ACCTGGAGGCGGTGGAGACGC	0.577000													8	128					0	0	0.411799	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924541	43924541	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:43924541G>C	ENST00000396879.1	-	13	1523	c.1411C>G	c.(1411-1413)Ctt>Gtt	p.L471V	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.L471V|CATSPER2_ENST00000321596.5_Missense_Mutation_p.L473V|CATSPER2_ENST00000381761.1_Missense_Mutation_p.L477V|CATSPER2_ENST00000355438.2_Missense_Mutation_p.S400C			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	473					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		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)		TCGTGCACAAGAGTCTCCCAG	0.473000													9	76					0	0	0.361761	0	0
CD34	947	broad.mit.edu	37	1	208061237	208061237	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:208061237C>A	ENST00000310833.7	-	8	1325	c.1004G>T	c.(1003-1005)gGa>gTa	p.G335V	CD34_ENST00000485761.1_Intron|CD34_ENST00000537704.1_Missense_Mutation_p.G200V|CD34_ENST00000356522.4_3'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.G177V	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	335					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GCCCTGGCCTCCACCGTTTTC	0.572000													6	32					0.00198382	0.00215265	0.248553	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3142678	3142678	+	Missense_Mutation	SNP	C	C	T	rs151212022		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:3142678C>T	ENST00000538082.2	-	2	433	c.118G>A	c.(118-120)Ggt>Agt	p.G40S	ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000572548.1_Splice_Site_p.L32_splice|ZSCAN10_ENST00000252463.2_Silent_p.L32L			Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	229	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCTCCAGCACCAGCAGCTCCA	0.697000													6	27					0	0	0.248553	0	0
SH3D19	152503	broad.mit.edu	37	4	152043355	152043355	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:152043355C>G	ENST00000409598.4	-	20	3359	c.2192G>C	c.(2191-2193)gGa>gCa	p.G731A	SH3D19_ENST00000427414.2_Missense_Mutation_p.G695A|SH3D19_ENST00000424281.1_Missense_Mutation_p.G695A|SH3D19_ENST00000409252.2_Missense_Mutation_p.G754A|SH3D19_ENST00000304527.4_Missense_Mutation_p.G754A|SH3D19_ENST00000514152.1_Missense_Mutation_p.G731A|SH3D19_ENST00000455740.1_Missense_Mutation_p.G731A			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	754	SH3 5.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TATTATATCTCCAGCCTGTAA	0.378000													9	67					0	0	0.361761	0	0
QARS	5859	broad.mit.edu	37	3	49142171	49142171	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:49142171G>C	ENST00000420147.2	-	1	382	c.50C>G	c.(49-51)tCt>tGt	p.S17C	QARS_ENST00000414533.1_5'UTR|QARS_ENST00000306125.6_5'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	0					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CGCCATTGCAGAGACACCGGA	0.602000													14	73					0	0	0.520397	0	0
MICALL2	79778	broad.mit.edu	37	7	1480308	1480308	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:1480308C>A	ENST00000297508.7	-	8	1899	c.1724G>T	c.(1723-1725)aGc>aTc	p.S575I	MICALL2_ENST00000405088.4_Missense_Mutation_p.S363I	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	575						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTCCTGGAGGCTGGTGCTCAT	0.642000													13	89					1.15088e-07	1.47744e-07	0.500413	1	0
OR5L1	219437	broad.mit.edu	37	11	55579207	55579207	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:55579207G>A	ENST00000333973.2	+	1	354	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTTAACAAGGACAAAGCCAT	0.468000													26	160					0	0	0.729181	0	0
MYT1L	23040	broad.mit.edu	37	2	1921081	1921081	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:1921081T>A	ENST00000399161.2	-	11	2261	c.1514A>T	c.(1513-1515)aAg>aTg	p.K505M	MYT1L_ENST00000428368.2_Missense_Mutation_p.K503M	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	505					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTGGACACTTGCTCTCTTT	0.488000													32	126					0	0	0.819951	0	0
ZNF142	7701	broad.mit.edu	37	2	219513427	219513427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:219513427G>A	ENST00000411696.2	-	5	1983	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	ZNF142_ENST00000449707.1_Nonsense_Mutation_p.Q402*			P52746	ZN142_HUMAN	zinc finger protein 142	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		tcaggacactggtggatcttt	0.502000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	48					0	0	0.411799	0	0
TRIM55	84675	broad.mit.edu	37	8	67062048	67062048	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:67062048G>A	ENST00000315962.4	+	5	1145	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	TRIM55_ENST00000353317.5_Missense_Mutation_p.V258I|TRIM55_ENST00000276573.7_Missense_Mutation_p.V258I|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	258						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTTGGAGAACGTCTCAAAGTT	0.428000													12	121					0	0	0.479597	0	0
CLDN14	23562	broad.mit.edu	37	21	37833416	37833416	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:37833416G>T	ENST00000399137.1	-	3	1444	c.578C>A	c.(577-579)cCc>cAc	p.P193H	CLDN14_ENST00000399135.1_Missense_Mutation_p.P193H|CLDN14_ENST00000342108.2_Missense_Mutation_p.P193H|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.P193H|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.P193H	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	193					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GGCCTGGTAGGGCCTGTAGGG	0.647000													15	60					1.3612e-06	1.67709e-06	0.479597	1	0
ZFP2	80108	broad.mit.edu	37	5	178359281	178359281	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:178359281G>T	ENST00000361362.2	+	5	1497	c.967G>T	c.(967-969)Gta>Tta	p.V323L	ZFP2_ENST00000523286.1_Missense_Mutation_p.V323L|ZFP2_ENST00000503510.2_Missense_Mutation_p.V323L|ZFP2_ENST00000520301.1_Missense_Mutation_p.V323L	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCATTCTGGAGTAAAACCTTT	0.373000													8	61					1.12685e-05	1.33556e-05	0.307466	1	0
ABCC9	10060	broad.mit.edu	37	12	21970224	21970224	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:21970224A>T	ENST00000261200.4	-	31	3788	c.3789T>A	c.(3787-3789)aaT>aaA	p.N1263K	ABCC9_ENST00000261201.4_Missense_Mutation_p.N1263K|ABCC9_ENST00000345162.2_Missense_Mutation_p.N1227K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1263	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCACAACCCAATTCAAATAAT	0.383000													22	122					0	0	0.608945	0	0
EFCAB3	146779	broad.mit.edu	37	17	60469188	60469188	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:60469188C>A	ENST00000450662.2	+	6	384	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	EFCAB3_ENST00000305286.3_Missense_Mutation_p.Q53K	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	53	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CCCAGCTTTCCAAGATGCCTA	0.413000													33	188					2.59497e-14	3.86148e-14	0.834066	1	0
FAM114A2	10827	broad.mit.edu	37	5	153407844	153407844	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:153407844C>A	ENST00000351797.4	-	6	572		c.e6-1		FAM114A2_ENST00000520667.1_Splice_Site|FAM114A2_ENST00000522858.1_Splice_Site|FAM114A2_ENST00000520313.1_Splice_Site	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2								purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CACTCTTTCCCTAGAAAATAC	0.308000													5	32					1.23904e-05	1.45825e-05	0.184627	1	0
ADGRG6	57211	broad.mit.edu	37	6	142711479	142711479	+	Splice_Site	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:142711479G>A	ENST00000230173.6	+	7	1783	c.1308_splice	c.e7+1	p.W436_splice	GPR126_ENST00000367608.2_Splice_Site_p.W408_splice|GPR126_ENST00000367609.3_Splice_Site_p.W436_splice|GPR126_ENST00000296932.8_Splice_Site_p.W408_splice	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	436					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GTGGCAGAATGGGTAAGTGAG	0.368000													24	90					0	0	0.624587	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698701	17698701	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:17698701C>G	ENST00000399080.2	-	1	1005	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	328										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGTCATTTTCATAACATTTG	0.333000													11	33					0	0	0.457914	0	0
GABRA1	2554	broad.mit.edu	37	5	161300184	161300184	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:161300184G>T	ENST00000428797.2	+	6	672	c.317G>T	c.(316-318)gGa>gTa	p.G106V	GABRA1_ENST00000444819.1_Missense_Mutation_p.G106V|GABRA1_ENST00000420560.1_Missense_Mutation_p.G106V|GABRA1_ENST00000437025.2_Missense_Mutation_p.G106V|GABRA1_ENST00000393943.4_Missense_Mutation_p.G106V|GABRA1_ENST00000023897.6_Missense_Mutation_p.G106V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	106					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAATTTAAAGGACCTATGACA	0.388000													19	113					2.70639e-06	3.28871e-06	0.624587	1	0
APOBEC2	10930	broad.mit.edu	37	6	41029442	41029442	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:41029442G>T	ENST00000244669.2	+	2	551	c.507G>T	c.(505-507)ctG>ctT	p.L169L		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	169					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGAAGCTGAAGGAGGCTG	0.522000													20	69					8.04996e-18	1.24982e-17	0.608945	1	0
PLXNA2	5362	broad.mit.edu	37	1	208212980	208212980	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:208212980C>A	ENST00000367033.3	-	24	5243	c.4486G>T	c.(4486-4488)Gag>Tag	p.E1496*		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1496					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCTTGTACTCGATCTGCTGC	0.592000													25	137					1.77063e-15	2.67023e-15	0.693898	1	0
GBX2	2637	broad.mit.edu	37	2	237075028	237075028	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:237075028C>T	ENST00000551105.1	-	3	650	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	GBX2_ENST00000306318.4_Silent_p.P192P|GBX2_ENST00000465889.1_5'UTR			P52951	GBX2_HUMAN	gastrulation brain homeobox 2	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CCTTGCCCTTCGGGTCGTCTT	0.562000													20	113					0	0	0.608945	0	0
KIAA1211	57482	broad.mit.edu	37	4	57164495	57164495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:57164495G>T	ENST00000504228.1	+	2	205	c.100G>T	c.(100-102)Ggc>Tgc	p.G34C	KIAA1211_ENST00000541073.1_Missense_Mutation_p.W19C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G34C			Q6ZU35	K1211_HUMAN	KIAA1211	34										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAACATCCTGGGCAAAGTCAA	0.493000													15	48					0.000566183	0.000629383	0.520397	1	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139091992	139091992	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:139091992G>C	ENST00000354926.4	+	6	937	c.583G>C	c.(583-585)Gcc>Ccc	p.A195P	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.A192P|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.A194P|LUC7L2_ENST00000541515.3_Missense_Mutation_p.A261P	NM_016019.3	NP_057103.2																					AGTCTGCTCTGCCTATTTAGG	0.403000													11	57					0	0	0.411799	0	0
C16orf78	123970	broad.mit.edu	37	16	49412490	49412490	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:49412490G>A	ENST00000299191.3	+	3	497	c.380G>A	c.(379-381)gGc>gAc	p.G127D		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	127										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						ATCAAGGATGGCCCCAAGAAA	0.532000													3	45					0	0	0.150653	0	0
PRSS8	5652	broad.mit.edu	37	16	31144568	31144568	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:31144568G>A	ENST00000317508.6	-	3	508	c.245C>T	c.(244-246)tCa>tTa	p.S82L	PRSS8_ENST00000568261.1_Intron	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	82	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GTGAGCAGCTGACAGCACCCA	0.562000													16	66					0	0	0.539581	0	0
TCN1	6947	broad.mit.edu	37	11	59626714	59626714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:59626714G>T	ENST00000257264.3	-	5	687	c.583C>A	c.(583-585)Ctg>Atg	p.L195M	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	195					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACAGGTCAGAGCCAGGACA	0.443000													28	162					5.43694e-19	8.55174e-19	0.812448	1	0
INTS9	55756	broad.mit.edu	37	8	28704293	28704293	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:28704293C>G	ENST00000521022.1	-	4	313	c.232G>C	c.(232-234)Gat>Cat	p.D78H	INTS9_ENST00000397363.4_Intron|INTS9_ENST00000521777.1_Missense_Mutation_p.D54H|INTS9_ENST00000416984.2_Intron	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	78					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GGCACAGAATCCACAAATACA	0.343000													11	83					0	0	0.411799	0	0
ATXN7	6314	broad.mit.edu	37	3	63973891	63973891	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:63973891C>T	ENST00000398590.3	+	9	1805	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S	ATXN7_ENST00000538065.1_Missense_Mutation_p.P418S|ATXN7_ENST00000295900.6_Missense_Mutation_p.P418S|ATXN7_ENST00000487717.1_Missense_Mutation_p.P418S|ATXN7_ENST00000484332.1_Missense_Mutation_p.P273S	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	418	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCATCCCGCCCCTCCTAGAAC	0.532000													46	249					0	0	0.870114	0	0
C5orf64	285668	broad.mit.edu	37	5	60982840	60982840	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:60982840C>A	ENST00000505642.1	+	3	243	c.168C>A	c.(166-168)acC>acA	p.T56T	RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron|RP11-2O17.2_ENST00000507264.1_RNA|RP11-2O17.2_ENST00000513386.1_RNA|C5orf64_ENST00000313303.7_Silent_p.T56T	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	56						extracellular region				breast(1)	1						AGGATCTGACCGCTGAAGTTT	0.443000													21	93					1.96895e-08	2.60719e-08	0.639603	1	0
ZNF860	344787	broad.mit.edu	37	3	32031134	32031134	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:32031134C>G	ENST00000360311.4	+	2	1112	c.563C>G	c.(562-564)tCa>tGa	p.S188*		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GATGCTTCCTCAGTTCTAACG	0.358000													6	44					0	0	0.217242	0	0
ABCA6	23460	broad.mit.edu	37	17	67129976	67129976	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:67129976C>T	ENST00000284425.2	-	6	771	c.597G>A	c.(595-597)ttG>ttA	p.L199L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	199					transport	integral to membrane	ATP binding|ATPase activity			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)					TAACTGACATCAACTCCTCCA	0.313000													5	25					0	0	0.248553	0	0
ADCY5	111	broad.mit.edu	37	3	123003559	123003559	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:123003559G>T	ENST00000462833.1	-	21	4894	c.3682C>A	c.(3682-3684)Ctg>Atg	p.L1228M	ADCY5_ENST00000491190.1_Missense_Mutation_p.L886M|ADCY5_ENST00000309879.5_Missense_Mutation_p.L878M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1228					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)		TTGGCAGCCAGCACCTGGTAC	0.612000													19	205					0.000229342	0.000258528	0.608945	1	0
ZNF485	220992	broad.mit.edu	37	10	44112231	44112231	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:44112231G>C	ENST00000361807.3	+	5	934	c.740G>C	c.(739-741)tGt>tCt	p.C247S	ZNF485_ENST00000374435.3_Missense_Mutation_p.C247S|ZNF485_ENST00000374437.2_Missense_Mutation_p.C156S	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TGTAATGACTGTGGGAAAGCC	0.398000													15	56					0	0	0.557998	0	0
MYH8	4626	broad.mit.edu	37	17	10322036	10322036	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:10322036C>A	ENST00000403437.2	-	5	531	c.437G>T	c.(436-438)aGa>aTa	p.R146I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	146	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTTTTGCCTCTGTAGGCAGC	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	111					2.05212e-20	3.2613e-20	0.812448	1	0
SEMA5B	54437	broad.mit.edu	37	3	122631064	122631064	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:122631064C>T	ENST00000195173.4	-	19	3151	c.2848G>A	c.(2848-2850)Ggg>Agg	p.G950R	SEMA5B_ENST00000357599.3_Missense_Mutation_p.G951R|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G1005R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	951	TSP type-1 4.				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)		GTGTGCAGCCCGAGACAGATG	0.637000													9	30					0	0	0.361761	0	0
OXSR1	9943	broad.mit.edu	37	3	38278382	38278382	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:38278382G>T	ENST00000311806.3	+	11	1376	c.1004G>T	c.(1003-1005)gGc>gTc	p.G335V	OXSR1_ENST00000446845.1_Missense_Mutation_p.G335V	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	335					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGGATGGAGGCTGGGAGTGG	0.428000													20	112					4.4004e-07	5.53503e-07	0.654019	1	0
MIA3	375056	broad.mit.edu	37	1	222801655	222801655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:222801655C>T	ENST00000344922.5	+	4	1118	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	MIA3_ENST00000344507.1_Nonsense_Mutation_p.Q365*|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Nonsense_Mutation_p.Q365*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	365					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGACAAGGTTCAGCTAACTGT	0.408000													16	79					0	0	0.608945	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862911	10862911	+	RNA	SNP	G	G	T	rs113234147		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:10862911G>T	ENST00000559480.1	+	0	207																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGATGGGATTGGTGTGCCCTA	0.537000													12	291					3.27435e-08	4.30863e-08	0.457914	1	0
LINS	55180	broad.mit.edu	37	15	101109667	101109667	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:101109667G>A	ENST00000314742.8	-	7	2272	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	684										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AATTCTTTCAGAACCAGAGGC	0.418000													10	60					0	0	0.361761	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475725	140475725	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140475725C>A	ENST00000194155.4	+	1	1499	c.1351C>A	c.(1351-1353)Ccc>Acc	p.P451T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		451	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAACGCCCCCGCCTTCAC	0.602000													37	299					6.3091e-27	1.02691e-26	0.870114	1	0
DDX60L	91351	broad.mit.edu	37	4	169362625	169362625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:169362625C>A	ENST00000511577.1	-	10	1404	c.1157G>T	c.(1156-1158)gGa>gTa	p.G386V	DDX60L_ENST00000260184.7_Missense_Mutation_p.G386V|DDX60L_ENST00000505890.1_Missense_Mutation_p.G386V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	386							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)		AATGGAATCTCCCAAATTCAA	0.343000													9	62					3.27435e-08	4.30863e-08	0.457914	1	0
GRXCR2	643226	broad.mit.edu	37	5	145239439	145239439	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:145239439C>A	ENST00000377976.1	-	3	603	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	202										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTGCCCGACCCTCGGCAGTGA	0.557000													11	52					4.3838e-07	5.52654e-07	0.435327	1	0
TENM4	26011	broad.mit.edu	37	11	78369691	78369691	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:78369691C>T	ENST00000278550.7	-	34	8184	c.7722G>A	c.(7720-7722)ttG>ttA	p.L2574L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGCCATCCTTCAAGGCAAACT	0.547000													6	29					0	0	0.335167	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118368599	118368599	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:118368599G>A	ENST00000528052.1	+	13	1446	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.D459N|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.D459N			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	459	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGTGCGGGAAGACACGCTGCT	0.522000													13	83					0	0	0.435327	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242465	18242465	+	Splice_Site	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:18242465T>C	ENST00000377369.2	+	2	533	c.261_splice	c.e2+1	p.L87_splice	SLC39A12_ENST00000377374.4_Splice_Site_p.L87_splice|SLC39A12_ENST00000377371.3_Splice_Site_p.L87_splice|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	87					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATTGCAATCTGGTTAGTGAA	0.443000													4	39					0	0	0.150653	0	0
FBN3	84467	broad.mit.edu	37	19	8191430	8191430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:8191430G>A	ENST00000600128.1	-	20	2890	c.2476C>T	c.(2476-2478)Cag>Tag	p.Q826*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q826*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q826*			Q75N90	FBN3_HUMAN	fibrillin 3	826	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGCTCCCTGAAGGTTCACC	0.667000													4	46					0	0	0.184627	0	0
AFF1	4299	broad.mit.edu	37	4	88036412	88036412	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:88036412G>C	ENST00000307808.6	+	11	2826	c.2406G>C	c.(2404-2406)agG>agC	p.R802S	AFF1_ENST00000395146.4_Missense_Mutation_p.R809S|AFF1_ENST00000544085.1_Missense_Mutation_p.R440S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	802						nucleus	sequence-specific DNA binding transcription factor activity	p.R809S(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTGAGAAGAGGAGCTCAGACA	0.592000													4	26					0	0	0.184627	0	0
TYW1B	441250	broad.mit.edu	37	7	72277732	72277732	+	RNA	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:72277732G>C	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ATGTTGGTGAGATTCACATTT	0.512000													5	28					0	0	0.184627	0	0
NDUFC2	4718	broad.mit.edu	37	11	77781037	77781037	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:77781037C>A	ENST00000281031.4	-	3	830	c.356G>T	c.(355-357)cGt>cTt	p.R119L	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000525085.1_Missense_Mutation_p.R96L|NDUFC2_ENST00000534029.1_Missense_Mutation_p.R71L|NDUFC2_ENST00000527806.1_Intron	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1			NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa											large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AAGACTTCAACGTATTGGATG	0.284000													13	61					3.41278e-10	4.74295e-10	0.520397	1	0
IAPP	3375	broad.mit.edu	37	12	21526336	21526336	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:21526336G>A	ENST00000542023.1	+	2	152	c.51G>A	c.(49-51)ttG>ttA	p.L17L	IAPP_ENST00000240652.3_Silent_p.L17L|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|IAPP_ENST00000539393.1_Silent_p.L17L|SLCO1A2_ENST00000307378.6_Intron			P10997	IAPP_HUMAN	islet amyloid polypeptide	17					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	CTGTTGCATTGAACCATCTGA	0.353000													18	75					0	0	0.667858	0	0
KIAA0100	9703	broad.mit.edu	37	17	26960056	26960056	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:26960056C>G	ENST00000528896.2	-	20	3783	c.3709G>C	c.(3709-3711)Gag>Cag	p.E1237Q	KIAA0100_ENST00000544884.1_Missense_Mutation_p.E1094Q|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E1094Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1237						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAGGGCACCTCAGGCAGGAAC	0.587000													20	92					0	0	0.624587	0	0
NACA2	342538	broad.mit.edu	37	17	59667909	59667909	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:59667909C>A	ENST00000521764.1	-	1	654	c.633G>T	c.(631-633)atG>atT	p.M211I		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	211	UBA.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTGTTAATTCCATAATCGCAT	0.363000													23	147					3.65163e-15	5.47744e-15	0.706142	1	0
HSPG2	3339	broad.mit.edu	37	1	22211334	22211334	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:22211334G>A	ENST00000374695.3	-	12	1512	c.1433C>T	c.(1432-1434)aCc>aTc	p.T478I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	478	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCCTCACAGGTGTAGGCACC	0.617000													8	40					0	0	0.307466	0	0
FOXH1	8928	broad.mit.edu	37	8	145699766	145699766	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:145699766C>T	ENST00000377317.4	-	3	1531	c.953G>A	c.(952-954)cGa>cAa	p.R318Q		NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	318	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGGGGCCCTCGGGTTTCAGG	0.632000													22	79					0	0	0.654019	0	0
LRP2	4036	broad.mit.edu	37	2	170145620	170145620	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:170145620G>T	ENST00000263816.3	-	9	1243	c.958C>A	c.(958-960)Cag>Aag	p.Q320K	LRP2_ENST00000443831.1_Missense_Mutation_p.Q320K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	320	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATGGCACTGGTACTGGCAG	0.463000													13	79					0.000308642	0.000344231	0.479597	1	0
DUOXA2	405753	broad.mit.edu	37	15	45409346	45409346	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:45409346C>T	ENST00000323030.5	+	5	897	c.612C>T	c.(610-612)ctC>ctT	p.L204L		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	204					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CGGCCCCGCTCTACGGAGGCC	0.697000													5	24					0	0	0.217242	0	0
CHRD	8646	broad.mit.edu	37	3	184103926	184103926	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:184103926C>G	ENST00000204604.1	+	15	2157	c.1911C>G	c.(1909-1911)ccC>ccG	p.P637P	CHRD_ENST00000450923.1_Silent_p.P637P|CHRD_ENST00000348986.3_Silent_p.P597P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.P267P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	637	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGTAGCCCCAGAGGGGAGC	0.642000													6	89					0	0	0.217242	0	0
ATP10B	23120	broad.mit.edu	37	5	160042864	160042864	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:160042864C>G	ENST00000327245.5	-	17	3480	c.2634G>C	c.(2632-2634)gaG>gaC	p.E878D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	878					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGTTGATTCTCCAGATGCT	0.498000													19	87					0	0	0.639603	0	0
KIF5C	3800	broad.mit.edu	37	2	149818584	149818584	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:149818584G>C	ENST00000435030.1	+	11	1436	c.1068G>C	c.(1066-1068)ttG>ttC	p.L356F	KIF5C_ENST00000414838.2_Missense_Mutation_p.L261F|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.L124F			O60282	KIF5C_HUMAN	kinesin family member 5C	356	Kinesin-motor.			TLKNVI -> STHASV (in Ref. 4; AAD01436).	microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ACAAGACTTTGAAGAATGTTA	0.393000													3	18					0	0	0.115264	0	0
TNFRSF8	943	broad.mit.edu	37	1	12169655	12169655	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:12169655G>A	ENST00000263932.2	+	5	676	c.454G>A	c.(454-456)Gct>Act	p.A152T	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.A41T	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	152					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGAGCCGGCTTCCCCAGG	0.627000													11	70					0	0	0.411799	0	0
BUB1	699	broad.mit.edu	37	2	111414648	111414648	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:111414648C>T	ENST00000535254.1	-	14	1670	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	BUB1_ENST00000409311.1_Missense_Mutation_p.E555K|BUB1_ENST00000302759.6_Missense_Mutation_p.E555K	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	555					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACAGAGCGTTCTCCAAAGGTC	0.368000													18	78					0	0	0.667858	0	0
ANK2	287	broad.mit.edu	37	4	114279122	114279122	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:114279122C>T	ENST00000357077.4	+	38	9401	c.9348C>T	c.(9346-9348)gcC>gcT	p.A3116A	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.A3083A|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3083					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAGTGGTGCCATTGATATGA	0.438000													6	44					0	0	0.307466	0	0
TBC1D21	161514	broad.mit.edu	37	15	74173788	74173788	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:74173788G>T	ENST00000300504.2	+	2	192	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	TBC1D21_ENST00000535547.2_Intron|TBC1D21_ENST00000562056.1_Missense_Mutation_p.D37Y	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	37						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGCTTCTTTGATGAGAGTGG	0.502000													11	66					4.93089e-13	7.16022e-13	0.457914	1	0
CLRN1	7401	broad.mit.edu	37	3	150690385	150690385	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:150690385A>T	ENST00000327047.1	-	1	401	c.111T>A	c.(109-111)acT>acA	p.T37T	CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.T37T	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	37					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCAGAGGACAGTGGCTTTGA	0.522000													11	93					0	0	0.479597	0	0
ROR1	4919	broad.mit.edu	37	1	64608124	64608124	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:64608124G>T	ENST00000371079.1	+	7	1340	c.965G>T	c.(964-966)cGg>cTg	p.R322L	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Missense_Mutation_p.R322L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	322	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GTGGACTACCGGGGGACCGTC	0.502000													4	72					0.150653	0.153573	0.150653	1	0
PYHIN1	149628	broad.mit.edu	37	1	158906841	158906841	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:158906841G>C	ENST00000368140.1	+	2	386	c.141G>C	c.(139-141)caG>caC	p.Q47H	PYHIN1_ENST00000368138.3_Missense_Mutation_p.Q47H|PYHIN1_ENST00000392254.2_Missense_Mutation_p.Q47H|PYHIN1_ENST00000392252.3_Missense_Mutation_p.Q47H|PYHIN1_ENST00000368135.4_Missense_Mutation_p.Q47H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	47	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACAAAATTCAGATTGCTGACT	0.353000													13	66					0	0	0.479597	0	0
POMC	5443	broad.mit.edu	37	2	25387561	25387561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:25387561C>T	ENST00000405623.1	-	2	536	c.81G>A	c.(79-81)tgG>tgA	p.W27*	POMC_ENST00000264708.3_Nonsense_Mutation_p.W27*|POMC_ENST00000395826.2_Nonsense_Mutation_p.W27*|POMC_ENST00000380794.1_Nonsense_Mutation_p.W27*			P01189	COLI_HUMAN	proopiomelanocortin	27					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TCTCCAGGCACCAGCCACGCA	0.617000													25	81					0	0	0.654019	0	0
MYADM	91663	broad.mit.edu	37	19	54377032	54377032	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:54377032C>T	ENST00000391769.2	+	3	529	c.249C>T	c.(247-249)ctC>ctT	p.L83L	MYADM_ENST00000391768.2_Silent_p.L83L|MYADM_ENST00000391770.4_Silent_p.L83L|MYADM_ENST00000391771.1_Silent_p.L83L|MYADM_ENST00000336967.3_Silent_p.L83L	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	83	MARVEL 1.			Missing (in Ref. 4; BAC04265).		integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGATCATCCTCATCGTGGAGC	0.642000													17	125					0	0	0.624587	0	0
MTA3	57504	broad.mit.edu	37	2	42931360	42931360	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:42931360C>T	ENST00000405592.1	+	13	1551	c.881C>T	c.(880-882)tCc>tTc	p.S294F	MTA3_ENST00000406911.1_Missense_Mutation_p.S350F|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000407270.3_Missense_Mutation_p.S351F|MTA3_ENST00000406652.1_Missense_Mutation_p.S294F|MTA3_ENST00000405094.1_Missense_Mutation_p.S351F			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	351	SANT.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AACCAAATATCCACTAGTAAT	0.418000													4	37					0	0	0.150653	0	0
ITIH4	3700	broad.mit.edu	37	3	52860612	52860612	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:52860612G>A	ENST00000266041.4	-	5	671	c.575C>T	c.(574-576)aCc>aTc	p.T192I	ITIH4_ENST00000485816.1_Missense_Mutation_p.T192I|ITIH4_ENST00000434759.3_Missense_Mutation_p.T104I|ITIH4_ENST00000406595.1_Missense_Mutation_p.T192I|ITIH4_ENST00000346281.5_Missense_Mutation_p.T192I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	192					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGTCATGAAGGTGCTCTCTGT	0.597000													6	98					0	0	0.278610	0	0
FAM102B	284611	broad.mit.edu	37	1	109167360	109167360	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:109167360T>A	ENST00000370035.3	+	6	886	c.546T>A	c.(544-546)ctT>ctA	p.L182L	FAM102B_ENST00000405454.1_Silent_p.L182L	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	182										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		AAGTGCATCTTGGAATAGCAG	0.403000													17	66					0	0	0.608945	0	0
CCR1	1230	broad.mit.edu	37	3	46245070	46245070	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:46245070C>T	ENST00000296140.3	-	2	860	c.735G>A	c.(733-735)atG>atA	p.M245I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	245					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAAAGATGATCATGATGACAA	0.388000													8	20					0	0	0.278610	0	0
AQP12B	653437	broad.mit.edu	37	2	241622113	241622113	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:241622113C>T	ENST00000407834.3	-	1	204	c.142G>A	c.(142-144)Ggg>Agg	p.G48R		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	41						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AAGCAGGCCCCGAGCTGCACC	0.687000													5	42					0	0	0.217242	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954722	10954722	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:10954722C>G	ENST00000240687.2	-	1	504	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	150					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TTCAAATTCTCAGTGGCTGGA	0.428000													6	33					0	0	0.335167	0	0
CCDC8	83987	broad.mit.edu	37	19	46915828	46915828	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:46915828C>G	ENST00000307522.3	-	1	1013	c.240G>C	c.(238-240)agG>agC	p.R80S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	80						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCTGCACTCTCCTCCTCACTC	0.667000													23	93					0	0	0.706142	0	0
BRSK1	84446	broad.mit.edu	37	19	55816696	55816696	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55816696C>A	ENST00000309383.1	+	15	2002	c.1725C>A	c.(1723-1725)acC>acA	p.T575T	BRSK1_ENST00000326848.7_Silent_p.T270T|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Silent_p.T591T	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	575					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CAGTCCCTACCGCTGAGGAGA	0.617000													9	56					2.17888e-05	2.55188e-05	0.335167	1	0
SCNN1A	6337	broad.mit.edu	37	12	6457408	6457408	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:6457408G>C	ENST00000358945.3	-	13	2147	c.1707C>G	c.(1705-1707)ctC>ctG	p.L569L	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Silent_p.L570L|SCNN1A_ENST00000540037.1_Silent_p.L247L|SCNN1A_ENST00000228916.2_Silent_p.L547L|SCNN1A_ENST00000360168.3_Silent_p.L606L			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	547					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GGTTGGACAGGAGGGTGACCA	0.587000													8	72					0	0	0.335167	0	0
GDF10	2662	broad.mit.edu	37	10	48428893	48428893	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:48428893C>T	ENST00000224605.2	-	2	1258	c.993G>A	c.(991-993)ctG>ctA	p.L331L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	331					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCCGGGGTTTCAGCGCCCGGA	0.662000													8	36					0	0	0.411799	0	0
FKBP6	8468	broad.mit.edu	37	7	72744304	72744304	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:72744304G>T	ENST00000252037.4	+	4	486	c.417G>T	c.(415-417)ctG>ctT	p.L139L	FKBP6_ENST00000413573.2_Silent_p.L109L|FKBP6_ENST00000431982.2_Silent_p.L134L	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	139	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGATTGAGCTGCTTGACTTCC	0.512000													11	89					2.80697e-09	3.80365e-09	0.387290	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170668	123170668	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:123170668C>T	ENST00000349780.4	-	31	4862	c.4683G>A	c.(4681-4683)ctG>ctA	p.L1561L	CDK5RAP2_ENST00000360190.4_Silent_p.L1561L|CDK5RAP2_ENST00000359309.3_Silent_p.L1520L|CDK5RAP2_ENST00000360822.3_Silent_p.L1529L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1561					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATACGCCTTCAGCTCCACTC	0.557000													9	52					0	0	0.307466	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033503	26033503	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:26033503C>T	ENST00000259791.2	-	1	293	c.294G>A	c.(292-294)ttG>ttA	p.L98L		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	98					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCACACGCCCCAAGAGTTTAT	0.562000													14	88					0	0	0.520397	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820908	35820908	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:35820908G>A	ENST00000399989.1	+	2	874	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	MAGEB16_ENST00000399987.1_Missense_Mutation_p.G199S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.G199S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.G199S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.G231S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	199	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGTGAAAAGGGTGTGCCCAA	0.527000													15	31					0	0	0.520397	0	0
GRID2	2895	broad.mit.edu	37	4	94547572	94547572	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:94547572T>C	ENST00000282020.4	+	14	2604	c.2346T>C	c.(2344-2346)gaT>gaC	p.D782D	GRID2_ENST00000510992.1_Silent_p.D687D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	782					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTACCGAGATGTTTTTTCAC	0.373000													23	112					0	0	0.717897	0	0
COG7	91949	broad.mit.edu	37	16	23428349	23428349	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:23428349T>A	ENST00000307149.5	-	9	1416	c.1231A>T	c.(1231-1233)Aga>Tga	p.R411*		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	411					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TTGGTGAATCTGACGCATCTG	0.582000													13	75					0	0	0.435327	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374976	8374976	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:8374976G>T	ENST00000538603.1	-	7	1395	c.837C>A	c.(835-837)ggC>ggA	p.G279G	FAM90A1_ENST00000307435.6_Silent_p.G279G	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	279							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGAGCCTAGGCCCAAGCTGT	0.637000													8	69					1.12685e-05	1.33556e-05	0.307466	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204403029	204403029	+	Silent	SNP	G	G	A	rs144860399	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:204403029G>A	ENST00000367187.3	-	26	4291	c.3735C>T	c.(3733-3735)aaC>aaT	p.N1245N	PIK3C2B_ENST00000424712.2_Silent_p.N1217N|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1245	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGTCACCCCCGTTGATGACAT	0.547000													22	114					0	0	0.592651	0	0
MAP2	4133	broad.mit.edu	37	2	210557618	210557618	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:210557618G>A	ENST00000360351.4	+	7	1230	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	MAP2_ENST00000447185.1_Missense_Mutation_p.E238K|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	242					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACAGAAGACAGAACCAAGCCT	0.458000													14	59					0	0	0.500413	0	0
PAGE1	8712	broad.mit.edu	37	X	49455912	49455912	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:49455912C>A	ENST00000376150.3	-	4	364	c.232G>T	c.(232-234)Ggt>Tgt	p.G78C		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	78					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GTATCAGGACCATCTCCAAGC	0.468000													13	29					6.31663e-08	8.25379e-08	0.479597	1	0
ANK1	286	broad.mit.edu	37	8	41530364	41530364	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:41530364A>T	ENST00000396942.1	-	38	4687	c.4604T>A	c.(4603-4605)cTa>cAa	p.L1535Q	ANK1_ENST00000352337.4_Missense_Mutation_p.L1535Q|ANK1_ENST00000347528.4_Missense_Mutation_p.L1535Q|ANK1_ENST00000379758.2_Missense_Mutation_p.L1535Q|ANK1_ENST00000396945.1_Missense_Mutation_p.L1535Q|ANK1_ENST00000265709.8_Missense_Mutation_p.L1576Q|ANK1_ENST00000289734.7_Missense_Mutation_p.L1535Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1535	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCTGCACGTAGCGGAGAGGA	0.612000													9	32					0	0	0.335167	0	0
DCAF16	54876	broad.mit.edu	37	4	17805617	17805617	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:17805617C>G	ENST00000382247.1	-	3	1208	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	DCAF16_ENST00000536863.1_Missense_Mutation_p.E50Q	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	50						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GCAAGACTCTCAAGAGGCGAT	0.413000													18	66					0	0	0.624587	0	0
PHACTR1	221692	broad.mit.edu	37	6	13160490	13160490	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:13160490G>T	ENST00000379350.1	+	5	599	c.470G>T	c.(469-471)gGa>gTa	p.G157V	PHACTR1_ENST00000332995.7_Missense_Mutation_p.G157V|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G12V|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000379345.2_Missense_Mutation_p.G12V			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	157						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ATAAAGCGAGGAGTCCTGAAG	0.448000													9	129					5.50884e-06	6.57544e-06	0.411799	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6107226	6107226	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:6107226C>T	ENST00000409021.3	-	3	1047	c.598G>A	c.(598-600)Gag>Aag	p.E200K	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E200K|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E200K|JAKMIP1_ENST00000409371.3_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	200	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCTCGCACTCGCGCTTGATG	0.697000													8	39					0	0	0.307466	0	0
FAT3	120114	broad.mit.edu	37	11	92600170	92600170	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:92600170G>T	ENST00000298047.6	+	21	11939	c.11922G>T	c.(11920-11922)cgG>cgT	p.R3974R	FAT3_ENST00000525166.1_Silent_p.R3824R|FAT3_ENST00000409404.2_Silent_p.R3974R|FAT3_ENST00000533797.1_Silent_p.R309R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3974	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGACACGCGGGTCACGCAGG	0.622000										TCGA Ovarian(4;0.039)			3	8					0.004672	0.0049892	0.115264	1	0
LRRC56	115399	broad.mit.edu	37	11	549960	549960	+	Missense_Mutation	SNP	G	G	T	rs113808353		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:549960G>T	ENST00000270115.7	+	7	885	c.385G>T	c.(385-387)Gct>Tct	p.A129S		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	129										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCCTCGCTGACCTGGA	0.672000													19	84					1.38267e-23	2.23753e-23	0.693898	1	0
GLS	2744	broad.mit.edu	37	2	191759904	191759904	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:191759904G>C	ENST00000320717.3	+	2	671	c.413G>C	c.(412-414)aGc>aCc	p.S138T	GLS_ENST00000338435.4_Missense_Mutation_p.S138T	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	138					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGTTACCTAGCTTGGAAGAT	0.284000													14	87					0	0	0.557998	0	0
HSD17B6	8630	broad.mit.edu	37	12	57181056	57181056	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:57181056C>G	ENST00000554643.1	+	6	1233	c.884C>G	c.(883-885)tCt>tGt	p.S295C	HSD17B6_ENST00000322165.1_Missense_Mutation_p.S295C|HSD17B6_ENST00000555159.1_Missense_Mutation_p.S295C|HSD17B6_ENST00000555805.1_Missense_Mutation_p.S295C|HSD17B6_ENST00000554150.1_Missense_Mutation_p.S295C			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	295					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	ATCCCTCTATCTTATTTACCT	0.463000													10	18					0	0	0.335167	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503771	140503771	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140503771T>C	ENST00000194152.1	+	1	2191	c.2191T>C	c.(2191-2193)Ttt>Ctt	p.F731L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGGCCCCTTTCCAGGGCA	0.652000													36	206					0	0	0.840704	0	0
CCDC70	83446	broad.mit.edu	37	13	52439679	52439679	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:52439679G>A	ENST00000242819.4	+	2	461	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	55						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GCGAAGAGATGAAAATTTTTC	0.507000													14	55					0	0	0.520397	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952846	16952846	+	RNA	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:16952846A>T	ENST00000412962.1	-	0	769																											TGCACAGTGTACCTGGGTGAC	0.657000													14	116					0	0	0.592651	0	0
SELE	6401	broad.mit.edu	37	1	169698701	169698701	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:169698701C>G	ENST00000333360.7	-	6	968	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	SELE_ENST00000367776.1_Missense_Mutation_p.E277Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E215Q|SELE_ENST00000367777.1_Missense_Mutation_p.E277Q|SELE_ENST00000367782.4_Missense_Mutation_p.E277Q|SELE_ENST00000367781.4_Missense_Mutation_p.E277Q|SELE_ENST00000367774.1_Missense_Mutation_p.E277Q|SELE_ENST00000367775.1_Missense_Mutation_p.E215Q|SELE_ENST00000367779.4_Missense_Mutation_p.E277Q	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	277	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCCATTAGTTCAAATCCTTCT	0.468000													14	75					0	0	0.520397	0	0
PMM1	5372	broad.mit.edu	37	22	41973365	41973365	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:41973365C>T	ENST00000216259.7	-	8	830	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	249					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CTCCCGGCATCGCTGCACCGT	0.587000											OREG0026591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	90					0	0	0.557998	0	0
KL	9365	broad.mit.edu	37	13	33634819	33634819	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:33634819G>C	ENST00000380099.3	+	4	1611	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	535	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCACAGGTAGATACCACTCT	0.443000													15	40					0	0	0.520397	0	0
POLR3E	55718	broad.mit.edu	37	16	22328517	22328517	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:22328517G>A	ENST00000299853.5	+	12	1022	c.855G>A	c.(853-855)ctG>ctA	p.L285L	POLR3E_ENST00000359210.4_Silent_p.L285L|POLR3E_ENST00000418581.2_Silent_p.L249L|POLR3E_ENST00000564209.1_Silent_p.L285L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	285					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TCAAGATCCTGATGAAGAATG	0.637000													33	121					0	0	0.760397	0	0
CRMP1	1400	broad.mit.edu	37	4	5862878	5862878	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:5862878C>A	ENST00000324989.7	-	3	618	c.530G>T	c.(529-531)cGg>cTg	p.R177L	CRMP1_ENST00000512574.1_Missense_Mutation_p.R61L|CRMP1_ENST00000397890.2_Missense_Mutation_p.R63L|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	63					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AATAACCATCCGCCCGTTGGC	0.522000													14	96					4.7546e-09	6.39137e-09	0.500413	1	0
ZNF284	342909	broad.mit.edu	37	19	44590044	44590044	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:44590044C>G	ENST00000421176.3	+	5	629	c.413C>G	c.(412-414)tCt>tGt	p.S138C	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GCAGGACTATCTATAATTCAC	0.433000													6	47					0	0	0.248553	0	0
KCNK15	60598	broad.mit.edu	37	20	43379218	43379218	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:43379218G>A	ENST00000372861.3	+	2	863	c.732G>A	c.(730-732)ctG>ctA	p.L244L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	244						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGGTGGTCCTGCGCTTCCTCG	0.726000													19	73					0	0	0.624587	0	0
TAF5L	27097	broad.mit.edu	37	1	229750119	229750119	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:229750119C>A	ENST00000366675.3	-	2	199	c.111G>T	c.(109-111)caG>caT	p.Q37H	TAF5L_ENST00000366676.1_Missense_Mutation_p.Q37H|TAF5L_ENST00000366674.1_Missense_Mutation_p.Q37H|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Missense_Mutation_p.Q37H	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	37					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTCAGCAGTCTGTGACAGCC	0.567000													25	115					1.2476e-16	1.91579e-16	0.706142	1	0
ZFP14	57677	broad.mit.edu	37	19	36831172	36831172	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:36831172T>A	ENST00000270001.7	-	5	1671	c.1556A>T	c.(1555-1557)cAg>cTg	p.Q519L		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GTGTGAATGCTGTCTAAAGGC	0.353000													6	50					0	0	0.307466	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149575840	149575840	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:149575840G>C	ENST00000456496.2	+	3	1324	c.373G>C	c.(373-375)Gtg>Ctg	p.V125L	ATP6V0E2_ENST00000479613.1_Intron|ATP6V0E2_ENST00000421974.2_Intron|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000464662.1_Missense_Mutation_p.V76L|ATP6V0E2_ENST00000425642.2_Missense_Mutation_p.V76L|ATP6V0E2_ENST00000495408.1_3'UTR	NM_145230.2	NP_660265.2	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	76					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CATCTGGTACGTGCGCTTCCT	0.642000													20	107					0	0	0.693898	0	0
RYR2	6262	broad.mit.edu	37	1	237969469	237969469	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:237969469G>T	ENST00000366574.2	+	99	14501	c.14184G>T	c.(14182-14184)atG>atT	p.M4728I	RYR2_ENST00000360064.6_Missense_Mutation_p.M4734I|RYR2_ENST00000542537.1_Missense_Mutation_p.M4712I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4728					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATATGACTATGTCTGTTCTTG	0.403000													4	29					0.00909568	0.00960353	0.150653	1	0
ZNF708	7562	broad.mit.edu	37	19	21476519	21476519	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:21476519T>C	ENST00000356929.3	-	4	1446	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TAGGGTTTCTTTCCAGTATGA	0.343000													4	44					0	0	0.150653	0	0
FRAS1	80144	broad.mit.edu	37	4	79432513	79432513	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:79432513C>T	ENST00000264895.6	+	64	10306	c.9866C>T	c.(9865-9867)cCc>cTc	p.P3289L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3284					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGGGGACCCCCTTAAGGAGC	0.542000													14	97					0	0	0.500413	0	0
CELSR2	1952	broad.mit.edu	37	1	109794955	109794955	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:109794955G>A	ENST00000271332.3	+	1	2315	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	752	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACTTCATGGAGGACAGCAT	0.587000													8	54					0	0	0.278610	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239332	5239332	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:5239332T>C	ENST00000274181.7	+	15	2361	c.2223T>C	c.(2221-2223)aaT>aaC	p.N741N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	741	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTAACGGGAATAACTCAGCCT	0.512000													23	175					0	0	0.681144	0	0
EIF4EBP2	1979	broad.mit.edu	37	10	72181483	72181483	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:72181483C>G	ENST00000373218.4	+	3	366	c.343C>G	c.(343-345)Cag>Gag	p.Q115E		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	115					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding			large_intestine(1)	1						GGATGATGCTCAGTTCGAGAT	0.408000													7	40					0	0	0.335167	0	0
FUT8	2530	broad.mit.edu	37	14	66188641	66188641	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:66188641G>T	ENST00000360689.5	+	8	2711	c.984G>T	c.(982-984)gtG>gtT	p.V328V	FUT8_ENST00000394585.1_Silent_p.V328V|FUT8_ENST00000358307.2_Silent_p.V199V|FUT8_ENST00000394586.2_Silent_p.V328V|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000557164.1_Silent_p.V165V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	328					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGTGGTGGGTGTCTCAGTTTG	0.488000													16	109					3.57192e-18	5.56625e-18	0.539581	1	0
MBD5	55777	broad.mit.edu	37	2	149247558	149247558	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:149247558G>T	ENST00000407073.1	+	12	4655	c.3658G>T	c.(3658-3660)Ggc>Tgc	p.G1220C	MBD5_ENST00000404807.1_Missense_Mutation_p.G1453C	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1220						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGATCATCCAGGCCATATCCA	0.498000													15	97					1.99824e-07	2.55744e-07	0.520397	1	0
UAP1	6675	broad.mit.edu	37	1	162551193	162551193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:162551193G>T	ENST00000271469.3	+	5	1080	c.778G>T	c.(778-780)Gca>Tca	p.A260S	UAP1_ENST00000367925.1_Missense_Mutation_p.A260S|UAP1_ENST00000367926.4_Missense_Mutation_p.A260S|UAP1_ENST00000367924.1_Missense_Mutation_p.A260S			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	260					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGTAAAAGTGGCAGACCCACG	0.438000													24	152					7.41945e-09	9.93392e-09	0.693898	1	0
WFS1	7466	broad.mit.edu	37	4	6292982	6292982	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:6292982G>T	ENST00000226760.1	+	5	689	c.519G>T	c.(517-519)gaG>gaT	p.E173D	WFS1_ENST00000503569.1_Missense_Mutation_p.E173D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	173					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGACCTGGAGAGGGCCGTGC	0.622000													10	58					0.00621372	0.00661042	0.335167	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740465	140740465	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140740465G>T	ENST00000522605.1	+	1	763	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGAGGACGTGCCGCCGGG	0.537000													5	74					0.0215528	0.0224881	0.217242	1	0
AP1G2	8906	broad.mit.edu	37	14	24031721	24031721	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:24031721G>C	ENST00000308724.5	-	14	2247	c.1492C>G	c.(1492-1494)Ccc>Gcc	p.P498A	AP1G2_ENST00000397120.3_Missense_Mutation_p.P498A|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	498					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ACCTGAAGGGGCTCAATCTCC	0.572000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	70					0	0	0.639603	0	0
TIGD7	91151	broad.mit.edu	37	16	3350423	3350423	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:3350423T>A	ENST00000396862.1	-	2	2020	c.192A>T	c.(190-192)gtA>gtT	p.V64V	TIGD7_ENST00000268674.2_Silent_p.V64V	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	64					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCTCAGCCCCTACTAATGGCA	0.413000													36	93					0	0	0.864702	0	0
CA3	761	broad.mit.edu	37	8	86357394	86357394	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:86357394G>A	ENST00000285381.2	+	5	537	c.454G>A	c.(454-456)Gag>Aag	p.E152K	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	152					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GATAGGACATGAGAATGGCGA	0.348000													5	38					0	0	0.217242	0	0
CD209	30835	broad.mit.edu	37	19	7809833	7809833	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:7809833C>T	ENST00000315599.7	-	5	916	c.894G>A	c.(892-894)gaG>gaA	p.E298E	CD209_ENST00000354397.6_Silent_p.E298E|CD209_ENST00000601256.1_Silent_p.E274E|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Silent_p.E162E|CD209_ENST00000315591.8_Silent_p.E274E|CD209_ENST00000601951.1_Silent_p.E274E|CD209_ENST00000593660.1_Silent_p.E228E|CD209_ENST00000301357.8_Silent_p.E162E|CD209_ENST00000394173.4_Silent_p.E137E|CD209_ENST00000204801.8_Silent_p.E254E|CD209_ENST00000602261.1_Silent_p.E206E	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	298	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTACCTGCTCCTCAGCACTTT	0.577000													15	64					0	0	0.592651	0	0
TTN	7273	broad.mit.edu	37	2	179499330	179499330	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179499330G>T	ENST00000589042.1	-	230	42402	c.42178C>A	c.(42178-42180)Ctg>Atg	p.L14060M	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L11492M|TTN_ENST00000591111.1_Missense_Mutation_p.L12419M|TTN_ENST00000460472.2_Missense_Mutation_p.L4995M|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L5187M|TTN_ENST00000359218.5_Missense_Mutation_p.L5120M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12419	Fibronectin type-III 1.						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)			ACATCCTTCAGGGGCACAGCA	0.443000													16	164					1.01871e-10	1.42637e-10	0.575678	1	0
SMAD4	4089	broad.mit.edu	37	18	48593533	48593533	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:48593533G>C	ENST00000342988.3	+	10	1822	c.1284G>C	c.(1282-1284)aaG>aaC	p.K428N	SMAD4_ENST00000398417.2_Missense_Mutation_p.K428N|SMAD4_ENST00000588745.1_Missense_Mutation_p.K332N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	428	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTGTTCATAAGATCTACCCAA	0.393000													7	52					0	0	0.248553	0	0
TRUB2	26995	broad.mit.edu	37	9	131073868	131073868	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:131073868C>T	ENST00000372890.4	-	6	806	c.473G>A	c.(472-474)aGa>aAa	p.R158K	TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Missense_Mutation_p.R102K	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	158					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CAGCTTCTCTCTGGTCACGTG	0.577000													12	75					0	0	0.457914	0	0
MUC3A	4584	broad.mit.edu	37	7	100607794	100607794	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:100607794C>A	ENST00000319509.7	+	5	1941	c.1941C>A	c.(1939-1941)ttC>ttA	p.F647L	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATGCCCTTCAGCCCCCAGC	0.612000													6	170					0.00307968	0.00331825	0.278610	1	0
ATP7A	538	broad.mit.edu	37	X	77287027	77287027	+	Missense_Mutation	SNP	G	G	A	rs72554653		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:77287027G>A	ENST00000341514.6	+	16	3396	c.3241G>A	c.(3241-3243)Gaa>Aaa	p.E1081K	ATP7A_ENST00000343533.5_Missense_Mutation_p.E1003K|ATP7A_ENST00000350425.4_Missense_Mutation_p.E84K	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1081					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GGGAACTGCTGAAAGTAACAG	0.393000													60	143					0	0	0.870114	0	0
OR10V1	390201	broad.mit.edu	37	11	59481056	59481056	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:59481056A>T	ENST00000307552.2	-	1	281	c.263T>A	c.(262-264)aTg>aAg	p.M88K	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGTTTTGCCCATTGAAAGGAG	0.478000													5	50					0	0	0.217242	0	0
GIPR	2696	broad.mit.edu	37	19	46180282	46180282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:46180282G>T	ENST00000590918.1	+	8	808	c.709G>T	c.(709-711)Gag>Tag	p.E237*	GIPR_ENST00000263281.3_Nonsense_Mutation_p.E237*|GIPR_ENST00000304207.8_Nonsense_Mutation_p.E201*	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	237					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCTGCTGGTGGAGGGCGTCTA	0.677000													9	83					1.58986e-06	1.95167e-06	0.361761	1	0
GRIA2	2891	broad.mit.edu	37	4	158257886	158257886	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:158257886G>A	ENST00000296526.7	+	11	2156	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	GRIA2_ENST00000264426.9_Missense_Mutation_p.D611N|GRIA2_ENST00000393815.2_Missense_Mutation_p.D564N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D564N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D564N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	611					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)	GCAAGGATGCGATATTTCGCC	0.398000													23	140					0	0	0.717897	0	0
ATP8A1	10396	broad.mit.edu	37	4	42590276	42590276	+	Splice_Site	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:42590276C>G	ENST00000381668.5	-	8	826		c.e8+1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAGATCTTACCTGTCTAATT	0.343000													15	92					0	0	0.500413	0	0
FAM3D	131177	broad.mit.edu	37	3	58620045	58620045	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:58620045C>A	ENST00000358781.2	-	10	946	c.636G>T	c.(634-636)ctG>ctT	p.L212L	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	212					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCATCTCCAGCAGCTCTGGCC	0.532000													17	148					2.39187e-15	3.59743e-15	0.575678	1	0
GP1BA	2811	broad.mit.edu	37	17	4836007	4836007	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:4836007G>A	ENST00000329125.5	+	2	183	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	36										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GTGACAAGAGGAATCTGACAG	0.572000													55	258					0	0	0.870114	0	0
GLYR1	84656	broad.mit.edu	37	16	4882859	4882859	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:4882859C>T	ENST00000321919.9	-	4	286	c.210G>A	c.(208-210)atG>atA	p.M70I	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Missense_Mutation_p.M70I|GLYR1_ENST00000381983.3_Missense_Mutation_p.M70I|GLYR1_ENST00000591451.1_Missense_Mutation_p.M70I	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	70					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TAATTTTTATCATTTCCTCTT	0.428000													21	73					0	0	0.608945	0	0
GCK	2645	broad.mit.edu	37	7	44190612	44190612	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:44190612C>T	ENST00000403799.3	-	4	895	c.426G>A	c.(424-426)aaG>aaA	p.K142K	GCK_ENST00000437084.1_Silent_p.K125K|GCK_ENST00000395796.3_Silent_p.K141K|GCK_ENST00000345378.2_Silent_p.K143K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	142					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGGGCAGCTTCTTGTGTTTCA	0.567000													24	82					0	0	0.681144	0	0
FAM222A	84915	broad.mit.edu	37	12	110206269	110206269	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:110206269G>A	ENST00000538780.1	+	3	1251	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A179T|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	179	Pro-rich.																CGCCACTGCCGCCTCCGTCAT	0.716000													8	57					0	0	0.307466	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066622	9066622	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:9066622A>T	ENST00000382496.5	-	17	2875	c.2210T>A	c.(2209-2211)cTg>cAg	p.L737Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	737	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGATCAGCCAGGCGGGCTTT	0.547000													21	218					0	0	0.575678	0	0
YTHDF3	253943	broad.mit.edu	37	8	64100001	64100001	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:64100001G>C	ENST00000539294.1	+	4	1745	c.1429G>C	c.(1429-1431)Gaa>Caa	p.E477Q	YTHDF3_ENST00000542911.2_Missense_Mutation_p.E288Q|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	478	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TGGAGTGGCTGAAATGAAGTC	0.428000													6	40					0	0	0.278610	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563482	228563482	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:228563482C>A	ENST00000258403.3	-	3	1020	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G313W	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	317					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.G317W(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TCTACGGCCCCATTATAGATG	0.458000													10	111					4.68919e-08	6.15113e-08	0.361761	1	0
THAP9	79725	broad.mit.edu	37	4	83839597	83839597	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:83839597C>G	ENST00000302236.5	+	5	2283	c.2232C>G	c.(2230-2232)ctC>ctG	p.L744L	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	744							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CATCGGATCTCAAAGCCTCTA	0.383000													8	52					0	0	0.307466	0	0
LILRB1	10859	broad.mit.edu	37	19	55143161	55143161	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:55143161G>T	ENST00000396331.1	+	5	638	c.281G>T	c.(280-282)gGg>gTg	p.G94V	LILRB1_ENST00000396317.1_Missense_Mutation_p.G94V|LILRB1_ENST00000396327.3_Missense_Mutation_p.G94V|LILRB1_ENST00000427581.2_Missense_Mutation_p.G130V|LILRB1_ENST00000434867.2_Missense_Mutation_p.G94V|LILRB1_ENST00000396332.4_Missense_Mutation_p.G94V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G94V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G94V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G94V|LILRB1_ENST00000396321.2_Missense_Mutation_p.G94V|LILRB1_ENST00000448689.1_Missense_Mutation_p.G94V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	94	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAACATGCAGGGCGGTATCGC	0.562000										HNSCC(37;0.09)			21	111					2.39556e-15	3.59976e-15	0.639603	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060738	35060738	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:35060738C>A	ENST00000373913.3	+	3	1098	c.618C>A	c.(616-618)agC>agA	p.S206R	DLGAP4_ENST00000373907.2_Missense_Mutation_p.S206R|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S206R|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S206R			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	206					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTGGTGGAGCTCCGATGACA	0.682000													6	39					0.00198382	0.00215265	0.248553	1	0
MYH2	4620	broad.mit.edu	37	17	10431126	10431126	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:10431126C>T	ENST00000245503.5	-	28	4194	c.3810G>A	c.(3808-3810)gaG>gaA	p.E1270E	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.E1270E|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1270					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						GCTGCTGCTCCTCTTCCTTTG	0.498000													15	76					0	0	0.520397	0	0
GPR139	124274	broad.mit.edu	37	16	20084831	20084831	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:20084831C>A	ENST00000570682.1	-	1	408	c.108G>T	c.(106-108)ttG>ttT	p.L36F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	36						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						CGAGGCACAGCAAGAGGCTGT	0.672000													4	16					0.00909568	0.00960353	0.150653	1	0
FCRL5	83416	broad.mit.edu	37	1	157490917	157490917	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:157490917C>A	ENST00000361835.3	-	11	2562	c.2405G>T	c.(2404-2406)gGa>gTa	p.G802V	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.G802V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	802	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TAAGGACGCTCCTCCAGAGGG	0.567000													21	124					5.49717e-05	6.34985e-05	0.654019	1	0
LOC645752	645752	broad.mit.edu	37	15	78211365	78211365	+	RNA	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:78211365C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GCTCCCGAAGCCTCTCGTTTT	0.597000													31	167					2.87052e-16	4.37995e-16	0.812448	1	0
LCP1	3936	broad.mit.edu	37	13	46708386	46708386	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:46708386C>A	ENST00000398576.2	-	17	1891		c.e17-1		LCP1_ENST00000323076.2_Splice_Site|LCP1_ENST00000435666.2_Splice_Site			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)						regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CAGTGTATACCTGAACAAAAT	0.348000			T	BCL6	NHL								9	35					0.0931896	0.0959254	0.411799	1	0
ASB14	142686	broad.mit.edu	37	3	57310740	57310740	+	Silent	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:57310740T>A	ENST00000487349.1	-	10	1722	c.1602A>T	c.(1600-1602)ctA>ctT	p.L534L	ASB14_ENST00000389601.3_Silent_p.L534L	NM_001142733.2|NM_130387.5	NP_001136205.2|NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	534	SOCS box.				intracellular signal transduction					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACAAATGTTTTAGGGAGCGAG	0.388000													5	36					0	0	0.278610	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773729	35773729	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:35773729C>G	ENST00000360215.1	+	1	659	c.282C>G	c.(280-282)ttC>ttG	p.F94L	LHFPL5_ENST00000373853.1_Missense_Mutation_p.F94L	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	94						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CTAGAGCCTTCAAGACTGCCA	0.542000													37	162					0	0	0.870114	0	0
PPT1	5538	broad.mit.edu	37	1	40558076	40558076	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:40558076C>T	ENST00000433473.3	-	2	692	c.228G>A	c.(226-228)ctG>ctA	p.L76L	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	76					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTACCTCCATCAGGGTCTTCC	0.413000													7	83					0	0	0.278610	0	0
USH2A	7399	broad.mit.edu	37	1	215990524	215990524	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:215990524C>A	ENST00000366943.2	-	48	9771	c.9385G>T	c.(9385-9387)Gat>Tat	p.D3129Y	USH2A_ENST00000307340.3_Missense_Mutation_p.D3129Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3129	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACACCCAATCAATTTGAAGA	0.378000										HNSCC(13;0.011)			16	83					0.000958276	0.00105687	0.557998	1	0
NSD1	64324	broad.mit.edu	37	5	176637951	176637951	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:176637951G>C	ENST00000439151.2	+	5	2596	c.2551G>C	c.(2551-2553)Gac>Cac	p.D851H	NSD1_ENST00000354179.4_Missense_Mutation_p.D582H|NSD1_ENST00000361032.4_Missense_Mutation_p.D748H|NSD1_ENST00000347982.4_Missense_Mutation_p.D582H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	851					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGATTCAAGTGACATAGAAAC	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	132					0	0	0.479597	0	0
LEPR	3953	broad.mit.edu	37	1	66102603	66102603	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:66102603A>T	ENST00000349533.6	+	20	3588	c.3403A>T	c.(3403-3405)Aag>Tag	p.K1135*	LEPR_ENST00000406510.3_Nonsense_Mutation_p.K202*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1135					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AACTTCTAGTAAGAAGACTTT	0.398000													8	68					0	0	0.278610	0	0
PAX4	5078	broad.mit.edu	37	7	127252051	127252051	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:127252051G>T	ENST00000341640.2	-	7	900	c.695C>A	c.(694-696)gCt>gAt	p.A232D	PAX4_ENST00000463946.1_Missense_Mutation_p.A230D|PAX4_ENST00000378740.2_Missense_Mutation_p.A232D|PAX4_ENST00000338516.3_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	240					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCCCTGGGAAGCACCTATAAA	0.547000													4	41					0.000602214	0.000667233	0.184627	1	0
SUPT6H	6830	broad.mit.edu	37	17	27027368	27027368	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:27027368G>C	ENST00000314616.6	+	35	4927	c.4644G>C	c.(4642-4644)ctG>ctC	p.L1548L	SUPT6H_ENST00000347486.4_Silent_p.L1548L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1548					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTACAGATCTGACACGGGCTG	0.562000													44	280					0	0	0.870114	0	0
SCN2A	6326	broad.mit.edu	37	2	166246170	166246170	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:166246170G>A	ENST00000375437.2	+	27	6144	c.5854G>A	c.(5854-5856)Gat>Aat	p.D1952N	SCN2A_ENST00000283256.6_Missense_Mutation_p.D1952N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1952N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1952N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1952					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TACTCTCATTGATAAACTGAA	0.383000													10	34					0	0	0.435327	0	0
FAM111B	374393	broad.mit.edu	37	11	58892225	58892225	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:58892225G>A	ENST00000343597.3	+	4	846	c.655G>A	c.(655-657)Gag>Aag	p.E219K	FAM111B_ENST00000411426.1_Missense_Mutation_p.E189K|FAM111B_ENST00000529618.1_Missense_Mutation_p.E189K	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	219							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CTTGAAGGGTGAGACTATTGA	0.358000													5	53					0	0	0.184627	0	0
NPR1	4881	broad.mit.edu	37	1	153657542	153657542	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:153657542C>A	ENST00000368680.3	+	8	2059	c.1587C>A	c.(1585-1587)agC>agA	p.S529R		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	529	Protein kinase.				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)	GTGCAGGCAGCCGGCTGACCC	0.622000													7	74					8.12818e-05	9.28069e-05	0.248553	1	0
RBL1	5933	broad.mit.edu	37	20	35632154	35632154	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:35632154A>C	ENST00000373664.3	-	21	3053	c.2987T>G	c.(2986-2988)cTt>cGt	p.L996R	RBL1_ENST00000344359.3_Missense_Mutation_p.L996R	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	996					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)				TCTTGGTGTAAGGCCTGACCC	0.463000													18	103					0	0	0.654019	0	0
ABRA	137735	broad.mit.edu	37	8	107782203	107782203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:107782203G>T	ENST00000311955.3	-	1	270	c.216C>A	c.(214-216)caC>caA	p.H72Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	72					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GAGCTTTCTGGTGTGAAGTAG	0.572000													10	104					4.3838e-07	5.52654e-07	0.435327	1	0
P2RY13	53829	broad.mit.edu	37	3	151046740	151046740	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:151046740C>T	ENST00000325602.5	-	2	123	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	35						integral to membrane|plasma membrane		p.R35P(1)|p.R14P(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TCTGGGGCACCGCTCAGATCT	0.468000													45	210					0	0	0.870114	0	0
DUSP16	80824	broad.mit.edu	37	12	12673889	12673889	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:12673889G>A	ENST00000228862.2	-	2	775	c.144C>T	c.(142-144)atC>atT	p.I48I	DUSP16_ENST00000298573.4_Silent_p.I48I	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	48	Rhodanese.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGGAGCAGTTGATATTAATGG	0.428000													11	92					0	0	0.361761	0	0
USP35	57558	broad.mit.edu	37	11	77907295	77907295	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:77907295G>T	ENST00000529308.1	+	2	265	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	2					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGGCGCCATGGACAAGATCTT	0.682000													20	104					1.16021e-09	1.59398e-09	0.717897	1	0
SLC15A1	6564	broad.mit.edu	37	13	99368131	99368131	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr13:99368131C>A	ENST00000376503.5	-	9	779		c.e9+1			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			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)	GAGATACTTACACCGATGCAC	0.398000													25	68					2.61193e-14	3.87986e-14	0.740014	1	0
CILP2	148113	broad.mit.edu	37	19	19654856	19654856	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:19654856G>T	ENST00000586018.1	+	8	1622	c.1520G>T	c.(1519-1521)gGc>gTc	p.G507V	CILP2_ENST00000291495.4_Missense_Mutation_p.G501V			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	501						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GAGCCCATCGGCTTCACCGCC	0.667000													6	23					0.00448238	0.00481113	0.307466	1	0
SCN5A	6331	broad.mit.edu	37	3	38640472	38640472	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:38640472C>T	ENST00000413689.1	-	13	2153	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	SCN5A_ENST00000333535.4_Missense_Mutation_p.E654K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E654K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E654K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E654K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E654K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E654K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E654K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E654K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E654K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	654					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTGGCTCCTCGAAGCCATCT	0.637000													8	97					0	0	0.307466	0	0
PCGF3	10336	broad.mit.edu	37	4	758795	758795	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:758795G>C	ENST00000362003.5	+	10	1019	c.624G>C	c.(622-624)gaG>gaC	p.E208D	PCGF3_ENST00000470161.2_Missense_Mutation_p.E208D|AC139887.4_ENST00000454037.1_RNA|PCGF3_ENST00000521023.2_Missense_Mutation_p.E174D|RP11-440L14.1_ENST00000503571.1_RNA|PCGF3_ENST00000505655.2_Missense_Mutation_p.E208D	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GCAACGAGGAGATCCTGGGCA	0.502000													8	50					0	0	0.335167	0	0
CDK12	51755	broad.mit.edu	37	17	37619292	37619292	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:37619292C>T	ENST00000447079.4	+	1	1001	c.968C>T	c.(967-969)tCg>tTg	p.S323L	CDK12_ENST00000430627.2_Missense_Mutation_p.S323L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	323					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCGGGCGATCGCCCAGTCCC	0.587000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			8	73					0	0	0.335167	0	0
PEG3	5178	broad.mit.edu	37	19	57334192	57334192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:57334192C>A	ENST00000326441.9	-	6	857	c.494G>T	c.(493-495)tGg>tTg	p.W165L	ZIM2_ENST00000593711.1_Missense_Mutation_p.W40L|PEG3_ENST00000598410.1_Missense_Mutation_p.W40L|ZIM2_ENST00000391708.3_Missense_Mutation_p.W40L|ZIM2_ENST00000221722.5_Missense_Mutation_p.W40L|PEG3_ENST00000593695.1_Missense_Mutation_p.W39L|ZIM2_ENST00000593931.1_Missense_Mutation_p.W40L|PEG3_ENST00000423103.2_Missense_Mutation_p.W165L|ZIM2_ENST00000601070.1_Missense_Mutation_p.W40L|ZIM2_ENST00000599935.1_Missense_Mutation_p.W40L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	165					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCCGGTCCCAGTCCCGGTC	0.537000													13	27					1.5842e-08	2.10601e-08	0.435327	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68139489	68139489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:68139489G>A	ENST00000262215.3	-	27	4188	c.3799C>T	c.(3799-3801)Caa>Taa	p.Q1267*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.Q721*|ARFGEF1_ENST00000518230.1_Nonsense_Mutation_p.Q105*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1267					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGCAGCTTGAGAATTAACC	0.363000													24	133					0	0	0.740014	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76643021	76643021	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:76643021C>T	ENST00000261530.7	+	6	1106	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.P347L	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		ATTAGTGACCCTCGGCAGAAA	0.448000													13	71					0	0	0.500413	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142232063	142232063	+	RNA	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:142232063G>A	ENST00000390364.3	-	0	27																											CAGCCCTGCTGTGGGCAGACT	0.567000													6	20					0	0	0.248553	0	0
KCNAB2	8514	broad.mit.edu	37	1	6154459	6154459	+	Splice_Site	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:6154459G>C	ENST00000164247.1	+	11	1066		c.e11-1		KCNAB2_ENST00000352527.1_Splice_Site|KCNAB2_ENST00000602612.1_Splice_Site|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000458166.2_Splice_Site|KCNAB2_ENST00000378092.1_Splice_Site|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000341524.1_Splice_Site|KCNAB2_ENST00000378083.3_Splice_Site|KCNAB2_ENST00000378097.1_Splice_Site	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2							cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCACGACAGAGACCGTCCG	0.642000													3	20					0	0	0.150653	0	0
FAIM3	9214	broad.mit.edu	37	1	207085252	207085252	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:207085252G>T	ENST00000367091.3	-	4	676	c.533C>A	c.(532-534)tCc>tAc	p.S178Y	FAIM3_ENST00000420007.2_Missense_Mutation_p.S178Y|FAIM3_ENST00000442471.2_Missense_Mutation_p.S66Y|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	178					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GGTGGGGGAGGAGTGGTGAAC	0.547000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	61					1.04858e-14	1.56867e-14	0.335167	1	0
CHRNA1	1134	broad.mit.edu	37	2	175612976	175612976	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:175612976G>A	ENST00000348749.5	-	9	1327	c.1250C>T	c.(1249-1251)gCa>gTa	p.A417V	CHRNA1_ENST00000409542.1_Missense_Mutation_p.A335V|CHRNA1_ENST00000409219.1_Missense_Mutation_p.A337V|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.A442V	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	442					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CTTCCACTCTGCCGCCGCCTG	0.507000													9	58					0	0	0.387290	0	0
CHRM2	1129	broad.mit.edu	37	7	136699808	136699808	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:136699808G>T	ENST00000445907.2	+	3	724	c.196G>T	c.(196-198)Gcc>Tcc	p.A66S	AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A66S|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A66S|CHRM2_ENST00000320658.5_Missense_Mutation_p.A66S|CHRM2_ENST00000397608.3_Missense_Mutation_p.A66S|CHRM2_ENST00000402486.3_Missense_Mutation_p.A66S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	66					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATTCAGCTTGGCCTGTGCTGA	0.463000													21	69					9.57634e-11	1.34196e-10	0.654019	1	0
MYO6	4646	broad.mit.edu	37	6	76602276	76602276	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:76602276G>A	ENST00000369981.3	+	28	3255	c.2976G>A	c.(2974-2976)caG>caA	p.Q992Q	MYO6_ENST00000369975.1_Silent_p.Q992Q|MYO6_ENST00000369977.3_Silent_p.Q992Q|MYO6_ENST00000369985.4_Silent_p.Q992Q			Q9UM54	MYO6_HUMAN	myosin VI	992	Glu-rich.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGGCCCGACAGAAGGAGGAGG	0.542000													35	169					0	0	0.827153	0	0
CPA4	51200	broad.mit.edu	37	7	129946636	129946636	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:129946636G>C	ENST00000222482.4	+	7	629	c.601G>C	c.(601-603)Gat>Cat	p.D201H	CPA4_ENST00000493259.1_Missense_Mutation_p.D97H|CPA4_ENST00000445470.2_Missense_Mutation_p.D168H	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	201					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GATTGTATCTGATTACCAGAG	0.448000													4	67					0	0	0.184627	0	0
ADAM33	80332	broad.mit.edu	37	20	3652891	3652891	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:3652891G>C	ENST00000356518.2	-	14	1728	c.1487C>G	c.(1486-1488)cCc>cGc	p.P496R	ADAM33_ENST00000379861.4_Missense_Mutation_p.P496R|ADAM33_ENST00000350009.2_Missense_Mutation_p.P496R|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	496	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AACGTCTGGGGGACAGTGGGA	0.662000													22	199					0	0	0.717897	0	0
GPR112	139378	broad.mit.edu	37	X	135488008	135488008	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:135488008G>T	ENST00000394143.1	+	23	9103	c.8812G>T	c.(8812-8814)Gac>Tac	p.D2938Y	GPR112_ENST00000287534.4_Missense_Mutation_p.D2691Y|GPR112_ENST00000370652.1_Missense_Mutation_p.D2938Y|GPR112_ENST00000394141.1_Missense_Mutation_p.D2733Y|GPR112_ENST00000412101.1_Missense_Mutation_p.D2733Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2938					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GATCCTGCATGACCTCAAAGG	0.438000													26	60					6.04164e-23	9.73023e-23	0.750413	1	0
CDR2	1039	broad.mit.edu	37	16	22358583	22358583	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:22358583C>T	ENST00000268383.2	-	5	1375	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	356						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ACTTCACCTTCAGGGCGCTGT	0.577000													23	89					0	0	0.681144	0	0
OBSL1	23363	broad.mit.edu	37	2	220431998	220431998	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:220431998G>A	ENST00000404537.1	-	4	1890	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	OBSL1_ENST00000265318.4_Missense_Mutation_p.L612F|OBSL1_ENST00000289656.3_Missense_Mutation_p.L199F|OBSL1_ENST00000373873.4_Missense_Mutation_p.L612F|OBSL1_ENST00000373876.1_Missense_Mutation_p.L612F|OBSL1_ENST00000603926.1_Missense_Mutation_p.L612F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	612					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AACTCACCAAGGTGAGCAGAA	0.637000													7	14					0	0	0.335167	0	0
NUSAP1	51203	broad.mit.edu	37	15	41657673	41657673	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:41657673C>T	ENST00000260359.6	+	7	953	c.689C>T	c.(688-690)cCc>cTc	p.P230L	NUSAP1_ENST00000450318.1_Missense_Mutation_p.P245L|NUSAP1_ENST00000414849.2_Missense_Mutation_p.P244L|NUSAP1_ENST00000450592.2_Missense_Mutation_p.P221L|NUSAP1_ENST00000559596.1_Missense_Mutation_p.P245L|NUSAP1_ENST00000560177.1_Missense_Mutation_p.P244L|NUSAP1_ENST00000560747.1_Missense_Mutation_p.P243L|NUSAP1_ENST00000558123.1_3'UTR	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	245					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GCTTCTACTCCCATCAGCCAA	0.532000													3	14					0	0	0.115264	0	0
KCNH5	27133	broad.mit.edu	37	14	63316568	63316568	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:63316568G>A	ENST00000322893.7	-	8	1640	c.1372C>T	c.(1372-1374)Ctt>Ttt	p.L458F	KCNH5_ENST00000394968.1_Missense_Mutation_p.L400F|KCNH5_ENST00000420622.2_Missense_Mutation_p.L458F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	458					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)		GCATAAAGAAGAGCTGAAAGA	0.303000													7	22					0	0	0.278610	0	0
ERC1	23085	broad.mit.edu	37	12	1192349	1192349	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:1192349A>G	ENST00000397203.2	+	3	1095	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	ERC1_ENST00000546231.2_Missense_Mutation_p.Q230R|ERC1_ENST00000355446.5_Missense_Mutation_p.Q230R|ERC1_ENST00000543086.3_Missense_Mutation_p.Q230R|ERC1_ENST00000589028.1_Missense_Mutation_p.Q230R|ERC1_ENST00000360905.4_Missense_Mutation_p.Q230R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	230					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGACAATCCAGGCTCTCCAG	0.488000													12	91					0	0	0.457914	0	0
GPR98	84059	broad.mit.edu	37	5	90368328	90368328	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:90368328G>T	ENST00000405460.2	+	86	18313	c.18217G>T	c.(18217-18219)Gtg>Ttg	p.V6073L	GPR98_ENST00000425867.2_Missense_Mutation_p.V1734L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6073					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)		GACGTGCCTCGTGGTGGTGTT	0.458000													30	141					6.04164e-23	9.73023e-23	0.750413	1	0
ROBO3	64221	broad.mit.edu	37	11	124735486	124735486	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:124735486C>T	ENST00000397801.1	+	1	205	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	5			L -> P (in HGPPS).		axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCTGCGCTACCTGCTGAAAAC	0.657000													10	28					0	0	0.435327	0	0
PIK3R3	8503	broad.mit.edu	37	1	46531746	46531746	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:46531746C>T	ENST00000262741.5	-	5	1290	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	PIK3R3_ENST00000540385.1_Missense_Mutation_p.E247K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E165K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E201K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E201K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E201K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E201K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	201					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CTAGTATATTCTTCATACAGC	0.323000													7	119					0	0	0.361761	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166839	140166839	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140166839G>T	ENST00000504120.2	+	1	964	c.964G>T	c.(964-966)Gca>Tca	p.A322S	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A322S|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A322S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGTAAAGGCAGTTGATAA	0.363000													16	87					3.32936e-07	4.20669e-07	0.539581	1	0
ALPI	248	broad.mit.edu	37	2	233321083	233321083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:233321083G>A	ENST00000295463.3	+	2	169	c.92G>A	c.(91-93)tGg>tAg	p.W31*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	31					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGCCTTCTGGAACCGCCAG	0.627000													21	85					0	0	0.639603	0	0
MFSD2A	84879	broad.mit.edu	37	1	40431155	40431155	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:40431155C>T	ENST00000372809.5	+	5	672	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	MFSD2A_ENST00000420632.2_Missense_Mutation_p.P8S|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.P164S	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	177					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTTCCATGTTCCCTACTCGGC	0.602000													10	160					0	0	0.387290	0	0
UBQLN4	56893	broad.mit.edu	37	1	156021556	156021556	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:156021556C>T	ENST00000368309.3	-	2	293	c.201G>A	c.(199-201)ctG>ctA	p.L67L	UBQLN4_ENST00000472638.1_5'UTR|UBQLN4_ENST00000368307.1_Silent_p.L67L	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	67	Ubiquitin-like.					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CGTGCTGGTTCAGTGTGTCCC	0.532000													12	85					0	0	0.435327	0	0
SLC37A2	219855	broad.mit.edu	37	11	124946728	124946728	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:124946728C>A	ENST00000403796.2	+	2	436	c.135C>A	c.(133-135)atC>atA	p.I45I	SLC37A2_ENST00000308074.4_Silent_p.I45I|SLC37A2_ENST00000407458.1_Silent_p.I45I|SLC37A2_ENST00000298280.5_Silent_p.I45I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	45					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CTATCAGTATCGTCAAGGTGA	0.562000													6	39					5.9392e-07	7.42621e-07	0.217242	1	0
MKL1	57591	broad.mit.edu	37	22	40825660	40825660	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:40825660A>T	ENST00000396617.3	-	7	841	c.251T>A	c.(250-252)gTg>gAg	p.V84E	MKL1_ENST00000355630.3_Missense_Mutation_p.V84E|MKL1_ENST00000402630.1_Missense_Mutation_p.V84E|MKL1_ENST00000407029.1_Missense_Mutation_p.V84E|MKL1_ENST00000402042.1_Missense_Mutation_p.V84E			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	84	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTTCTTCTCCACCAGCTCCAT	0.577000			T	RBM15	acute megakaryocytic leukemia								8	48					0	0	0.335167	0	0
ZNF793	390927	broad.mit.edu	37	19	38028332	38028332	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:38028332A>T	ENST00000445217.1	+	4	807	c.772A>T	c.(772-774)Act>Tct	p.T258S	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.T258S|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.T258S			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGGCTGCACTGACTGTGG	0.458000													5	15					0	0	0.217242	0	0
LPHN2	23266	broad.mit.edu	37	1	82431855	82431855	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:82431855A>T	ENST00000370728.1	+	14	2764	c.2119A>T	c.(2119-2121)Aac>Tac	p.N707Y	LPHN2_ENST00000370725.1_Missense_Mutation_p.N707Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.N707Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.N707Y|LPHN2_ENST00000370713.1_Missense_Mutation_p.N694Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.N707Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.N707Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.N694Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.N694Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.N694Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.N694Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.N694Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.N632Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.N707Y			O95490	LPHN2_HUMAN	latrophilin 2	707					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGTCAAACAGAACAGCAGGAA	0.378000													13	49					0	0	0.457914	0	0
OGDHL	55753	broad.mit.edu	37	10	50964909	50964909	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:50964909C>A	ENST00000374103.4	-	3	373	c.288G>T	c.(286-288)gaG>gaT	p.E96D	OGDHL_ENST00000419399.1_Intron|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	96					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAGACCTGCTCTCATGGACAA	0.602000													18	118					1.50039e-11	2.12914e-11	0.608945	1	0
ERICH1	157697	broad.mit.edu	37	8	642599	642599	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:642599C>A	ENST00000262109.7	-	3	260	c.183G>T	c.(181-183)gaG>gaT	p.E61D	ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	61										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CAGTCGGGGTCTCAGAGCCAG	0.552000													5	24					5.18039e-06	6.22757e-06	0.278610	1	0
DDOST	1650	broad.mit.edu	37	1	20987829	20987829	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:20987829G>A	ENST00000375048.3	-	1	171	c.66C>T	c.(64-66)acC>acT	p.T22T	DDOST_ENST00000602624.2_Silent_p.T5T|DDOST_ENST00000415136.2_Silent_p.T22T|DDOST_ENST00000477229.1_5'UTR	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	22					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCGGGCCGCGGTGCTGGGCT	0.662000											OREG0013196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	0.150653	0	0
GPR98	84059	broad.mit.edu	37	5	90001260	90001260	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:90001260T>A	ENST00000405460.2	+	37	8526	c.8430T>A	c.(8428-8430)taT>taA	p.Y2810*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2810					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)		CTCAAGGATATGCAGCTGTCC	0.423000													17	167					0	0	0.592651	0	0
OR7G3	390883	broad.mit.edu	37	19	9237084	9237084	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:9237084T>C	ENST00000305444.2	-	1	542	c.543A>G	c.(541-543)ctA>ctG	p.L181L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAATATGAGCTAGTTCACAGA	0.478000													14	51					0	0	0.479597	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136444	40136444	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:40136444C>A	ENST00000278198.2	-	2	3362	c.1399G>T	c.(1399-1401)Gat>Tat	p.D467Y	LRRC4C_ENST00000527150.1_Missense_Mutation_p.D467Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D467Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D467Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	467					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGTGCCTCATCCTGAGACGGT	0.512000													9	40					0.0809354	0.0834135	0.387290	1	0
GPR50	9248	broad.mit.edu	37	X	150349262	150349262	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:150349262C>A	ENST00000218316.3	+	2	1276	c.1207C>A	c.(1207-1209)Cac>Aac	p.H403N		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	403	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTCTACCCACCACAAGTC	0.597000													39	97					9.8876e-21	1.57584e-20	0.804634	1	0
FZD1	8321	broad.mit.edu	37	7	90895180	90895180	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:90895180C>T	ENST00000287934.2	+	1	1398	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	329					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TTGGTCAGTGCTGTGCTGCGC	0.617000													14	116					0	0	0.520397	0	0
DRD3	1814	broad.mit.edu	37	3	113878675	113878675	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:113878675C>A	ENST00000383673.2	-	3	740	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	DRD3_ENST00000460779.1_Missense_Mutation_p.D104Y|DRD3_ENST00000467632.1_Missense_Mutation_p.D104Y|DRD3_ENST00000295881.7_Missense_Mutation_p.D104Y	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	104					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	ACAAAAACATCACAGCAAATG	0.498000													5	123					5.4927e-09	7.37179e-09	0.307466	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291186	141291186	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:141291186G>T	ENST00000247452.3	-	3	935	c.588C>A	c.(586-588)gcC>gcA	p.A196A		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	196	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTATCAGGGCAAGGCCAA	0.502000										HNSCC(46;0.14)			20	62					3.62473e-10	5.0292e-10	0.608945	1	0
PTK2B	2185	broad.mit.edu	37	8	27295350	27295350	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:27295350G>C	ENST00000397501.1	+	23	2404	c.1596G>C	c.(1594-1596)caG>caC	p.Q532H	PTK2B_ENST00000397497.4_Missense_Mutation_p.Q278H|PTK2B_ENST00000544172.1_Missense_Mutation_p.Q532H|PTK2B_ENST00000346049.5_Missense_Mutation_p.Q532H|PTK2B_ENST00000517339.1_Missense_Mutation_p.Q532H|PTK2B_ENST00000420218.2_Missense_Mutation_p.Q532H|PTK2B_ENST00000338238.4_Missense_Mutation_p.Q532H	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	532	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		ACTCACTGCAGATATGCAAAG	0.597000													6	28					0	0	0.278610	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331587	21331587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:21331587C>A	ENST00000256958.2	+	6	655	c.559C>A	c.(559-561)Ccc>Acc	p.P187T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	187					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AGGGGAGACTCCCATAGTACC	0.353000													18	89					1.96292e-10	2.73025e-10	0.592651	1	0
COL17A1	1308	broad.mit.edu	37	10	105798213	105798213	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:105798213G>A	ENST00000353479.5	-	45	3311	c.3021C>T	c.(3019-3021)atC>atT	p.I1007I	COL17A1_ENST00000369733.3_Silent_p.I962I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1007	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGAGCTGCTGATAGAGCCCG	0.597000													60	300					0	0	0.870114	0	0
OR8J3	81168	broad.mit.edu	37	11	55905006	55905006	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:55905006C>T	ENST00000301529.1	-	1	188	c.189G>A	c.(187-189)ctG>ctA	p.L63L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTAGATGTCTCAGGAAAAAGT	0.428000													22	129					0	0	0.667858	0	0
ANKRD50	57182	broad.mit.edu	37	4	125631304	125631304	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:125631304C>A	ENST00000504087.1	-	2	1400	c.363G>T	c.(361-363)ttG>ttT	p.L121F	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	121										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTCCAACACACAAAGTATCAG	0.488000													8	52					2.17888e-05	2.55188e-05	0.335167	1	0
PRSS55	203074	broad.mit.edu	37	8	10396239	10396239	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:10396239G>T	ENST00000328655.3	+	5	1035	c.995G>T	c.(994-996)aGc>aTc	p.S332I	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	332					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GAGCCAGGCAGCCCCAGATCC	0.527000													33	187					2.09667e-21	3.35746e-21	0.788014	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559674	140559674	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:140559674C>A	ENST00000239444.2	+	1	2304	c.2059C>A	c.(2059-2061)Ctc>Atc	p.L687I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		687					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCGACTCTCTCACCGTCTA	0.677000													39	152					8.20599e-20	1.298e-19	0.859065	1	0
ICA1	3382	broad.mit.edu	37	7	8178645	8178645	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:8178645C>A	ENST00000402384.3	-	11	1254	c.988G>T	c.(988-990)Gac>Tac	p.D330Y	ICA1_ENST00000401396.1_Missense_Mutation_p.D318Y|ICA1_ENST00000422063.2_Missense_Mutation_p.D359Y|ICA1_ENST00000265577.7_Missense_Mutation_p.D329Y|ICA1_ENST00000406470.2_Missense_Mutation_p.D330Y|ICA1_ENST00000396675.3_Missense_Mutation_p.D330Y			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	330					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAGCCTTTGTCTAAGGCAGAT	0.363000													5	65					0.217242	0.220252	0.217242	1	0
SGCZ	137868	broad.mit.edu	37	8	14181665	14181665	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:14181665C>T	ENST00000382080.1	-	3	998	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	82					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCAGATATACCTTCAAGTCGG	0.353000													16	66					0	0	0.557998	0	0
AGAP2	116986	broad.mit.edu	37	12	58128130	58128130	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:58128130C>T	ENST00000257897.3	-	4	450	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	AGAP2_ENST00000547588.1_Missense_Mutation_p.R458Q	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	458					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						AGCTTCCTCTCGGATTAGCAC	0.572000													21	76					0	0	0.667858	0	0
ANKK1	255239	broad.mit.edu	37	11	113269874	113269874	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:113269874G>A	ENST00000303941.3	+	8	1277	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	395							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)		GACGGCCTCTGGATACACGCC	0.642000													4	13					0	0	0.150653	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952915	3952915	+	RNA	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:3952915G>T	ENST00000281228.8	-	0	192				FAM86EP_ENST00000313946.8_RNA																							GACTGACGGCGGGTGCTTCAC	0.532000													11	62					6.72482e-11	9.44731e-11	0.479597	1	0
DIAPH2	1730	broad.mit.edu	37	X	96220181	96220181	+	Silent	SNP	A	A	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:96220181A>G	ENST00000324765.8	+	17	2372	c.2025A>G	c.(2023-2025)gcA>gcG	p.A675A	DIAPH2_ENST00000355827.4_Silent_p.A675A|DIAPH2_ENST00000373054.4_Silent_p.A671A|DIAPH2_ENST00000373049.4_Silent_p.A675A|DIAPH2_ENST00000373061.3_Silent_p.A675A			O60879	DIAP2_HUMAN	diaphanous-related formin 2	675	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCAAATTGGCATTGAATTTTG	0.308000													7	8					0	0	0.335167	0	0
ENO3	2027	broad.mit.edu	37	17	4857125	4857125	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:4857125C>A	ENST00000323997.6	+	6	561	c.429C>A	c.(427-429)ctC>ctA	p.L143L	ENO3_ENST00000518175.1_Silent_p.L143L|ENO3_ENST00000519584.1_Silent_p.L100L	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	143					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						ACCCTGACCTCATACTCCCAG	0.647000													18	99					6.44725e-10	8.92329e-10	0.624587	1	0
DDB1	1642	broad.mit.edu	37	11	61081950	61081950	+	Silent	SNP	T	T	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:61081950T>C	ENST00000301764.7	-	13	1816	c.1419A>G	c.(1417-1419)tcA>tcG	p.S473S	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	473	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCACCGATGCTGAAGTGATCT	0.512000								Nucleotide excision repair (NER)					39	192					0	0	0.870114	0	0
HELB	92797	broad.mit.edu	37	12	66724980	66724980	+	Missense_Mutation	SNP	G	G	T	rs149917565		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:66724980G>T	ENST00000247815.4	+	12	2776	c.2717G>T	c.(2716-2718)cGc>cTc	p.R906L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	906					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGGCGGGCCGCCAGCACTGG	0.532000													40	87					5.04308e-16	7.67405e-16	0.819951	1	0
PRAME	23532	broad.mit.edu	37	22	22890743	22890743	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:22890743G>C	ENST00000543184.1	-	5	2138	c.1276C>G	c.(1276-1278)Ctc>Gtc	p.L426V	PRAME_ENST00000424204.2_Missense_Mutation_p.L410V|PRAME_ENST00000398741.1_Missense_Mutation_p.L426V|PRAME_ENST00000398743.2_Missense_Mutation_p.L426V|PRAME_ENST00000402697.1_Missense_Mutation_p.L426V|PRAME_ENST00000539862.1_Missense_Mutation_p.L410V|PRAME_ENST00000405655.3_Missense_Mutation_p.L426V	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	426	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGCTGCAGGAGACTCTGCAAG	0.557000													11	114					0	0	0.435327	0	0
BCOR	54880	broad.mit.edu	37	X	39932118	39932118	+	Silent	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:39932118T>G	ENST00000342274.4	-	4	2843	c.2481A>C	c.(2479-2481)gcA>gcC	p.A827A	BCOR_ENST00000397354.3_Silent_p.A827A|BCOR_ENST00000378444.4_Silent_p.A827A|BCOR_ENST00000378455.4_Silent_p.A827A	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	827					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CACTCTCTGCTGCAAAGCTGG	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						8	18					0	0	0.335167	0	0
SNTN	132203	broad.mit.edu	37	3	63645403	63645403	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:63645403C>A	ENST00000496807.1	+	3	138	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	SNTN_ENST00000343837.3_Missense_Mutation_p.L50M			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	50						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						TCTCCTAGCTCTGAGGAAGTG	0.428000													7	99					0.0477658	0.0494098	0.307466	1	0
ERN2	10595	broad.mit.edu	37	16	23713796	23713796	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:23713796G>A	ENST00000256797.4	-	10	1308	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	ERN2_ENST00000457008.2_Silent_p.V332V	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	332				L -> P (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTCTCCTGAGACTTGGAGTG	0.607000													39	233					0	0	0.870114	0	0
SALL4	57167	broad.mit.edu	37	20	50408065	50408065	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:50408065C>A	ENST00000217086.4	-	2	1068	c.957G>T	c.(955-957)ggG>ggT	p.G319G	SALL4_ENST00000395997.3_Silent_p.G319G|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	319					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCACCCGGGTCCCATCCGGCT	0.642000													8	60					0.0692343	0.0713979	0.361761	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85531691	85531691	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:85531691G>A	ENST00000393217.2	+	19	4334	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1425										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TATTAAGAATGAAGAATCCGA	0.289000													7	66					0	0	0.278610	0	0
XIST	7503	broad.mit.edu	37	X	73062658	73062658	+	RNA	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:73062658A>T	ENST00000429829.1	-	0	9930					NR_001564.2																						GAGGGAAGGGAAGAGGGAGAC	0.488000													12	19					0	0	0.387290	0	0
CHST15	51363	broad.mit.edu	37	10	125769714	125769714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:125769714C>A	ENST00000346248.5	-	8	2279	c.1637G>T	c.(1636-1638)aGg>aTg	p.R546M	CHST15_ENST00000435907.1_Missense_Mutation_p.R546M	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	546					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CTGCGCCAGCCTAGCGTTGAA	0.617000													9	49					0.00185496	0.00202457	0.435327	1	0
PURG	29942	broad.mit.edu	37	8	30889675	30889675	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:30889675C>A	ENST00000475541.1	-	1	1556	c.624G>T	c.(622-624)atG>atT	p.M208I	PURG_ENST00000339382.2_Missense_Mutation_p.M208I	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	208						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AATAACCTATCATGCCAGTCC	0.463000													18	73					7.45023e-12	1.0617e-11	0.592651	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765398	171765398	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:171765398G>T	ENST00000311601.5	-	13	2881	c.2711C>A	c.(2710-2712)tCc>tAc	p.S904Y	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	904	SH3 4.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGATAGTTGGAAGGAATCCA	0.547000													11	77					2.31682e-05	2.70967e-05	0.479597	1	0
AMER1	139285	broad.mit.edu	37	X	63409803	63409803	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:63409803T>A	ENST00000330258.3	-	2	3636	c.3364A>T	c.(3364-3366)Acc>Tcc	p.T1122S	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GAGTAGCTGGTGGCAAGAGAG	0.572000													5	9					0	0	0.217242	0	0
CPEB2	132864	broad.mit.edu	37	4	15067887	15067887	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:15067887G>T	ENST00000538197.1	+	12	2988	c.2988G>T	c.(2986-2988)caG>caT	p.Q996H	CPEB2_ENST00000442003.2_Missense_Mutation_p.Q969H|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.Q559H|CPEB2_ENST00000345451.3_Missense_Mutation_p.Q521H|CPEB2_ENST00000382401.3_Missense_Mutation_p.Q524H|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.Q529H|CPEB2_ENST00000507071.1_Missense_Mutation_p.Q551H|CPEB2_ENST00000541112.1_Missense_Mutation_p.Q988H	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	551					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CTTGCCTGCAGTATTACTGTG	0.488000													19	77					2.39187e-15	3.59743e-15	0.575678	1	0
DYSF	8291	broad.mit.edu	37	2	71891551	71891551	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:71891551C>G	ENST00000258104.3	+	45	5317	c.5040C>G	c.(5038-5040)ctC>ctG	p.L1680L	DYSF_ENST00000410020.3_Silent_p.L1719L|DYSF_ENST00000410041.1_Silent_p.L1698L|DYSF_ENST00000409366.1_Silent_p.L1702L|DYSF_ENST00000429174.2_Silent_p.L1701L|DYSF_ENST00000394120.2_Silent_p.L1681L|DYSF_ENST00000409744.1_Silent_p.L1688L|DYSF_ENST00000409582.3_Silent_p.L1718L|DYSF_ENST00000409762.1_Silent_p.L1697L|DYSF_ENST00000409651.1_Silent_p.L1712L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.L1711L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1680						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGTGGACTCCCACAGACCT	0.562000													12	69					0	0	0.457914	0	0
FLNB	2317	broad.mit.edu	37	3	57994582	57994582	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:57994582C>A	ENST00000357272.4	+	1	456	c.292_splice	c.e1+1	p.I97_splice	FLNB_ENST00000358537.3_Splice_Site_p.I97_splice|FLNB_ENST00000348383.5_Splice_Site_p.I97_splice|FLNB_ENST00000490882.1_Splice_Site_p.I97_splice|FLNB_ENST00000429972.2_Splice_Site_p.I97_splice|FLNB_ENST00000295956.4_Splice_Site_p.I97_splice			O75369	FLNB_HUMAN	filamin B, beta	97	Actin-binding.|CH 1.				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)		TCGTGTCCATCGGTGAGTTCT	0.682000													16	149					4.7546e-09	6.39137e-09	0.500413	1	0
ZNF680	340252	broad.mit.edu	37	7	63982477	63982477	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:63982477G>A	ENST00000309683.6	-	4	806	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AACCAGTTAAGAACTTTGCCA	0.368000													12	35					0	0	0.387290	0	0
FADS6	283985	broad.mit.edu	37	17	72878812	72878812	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:72878812G>A	ENST00000310226.6	-	3	400	c.386C>T	c.(385-387)gCc>gTc	p.A129V		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	135					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCATGCGTGGCGTGCTCTGC	0.592000													10	29					0	0	0.387290	0	0
MSL3	10943	broad.mit.edu	37	X	11790315	11790315	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:11790315G>A	ENST00000380693.3	+	10	1461	c.824G>A	c.(823-825)gGt>gAt	p.G275D	MSL3_ENST00000312196.4_Missense_Mutation_p.G441D|MSL3_ENST00000398527.2_Missense_Mutation_p.G429D|MSL3_ENST00000361672.2_Missense_Mutation_p.G292D	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	441					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TACCCCCCAGGTGACCAGCCG	0.458000													54	148					0	0	0.870114	0	0
EFCC1	79825	broad.mit.edu	37	3	128758690	128758690	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:128758690G>A	ENST00000436022.2	+	8	1796	c.485G>A	c.(484-486)tGa>tAa	p.*162*	EFCC1_ENST00000480450.1_Silent_p.*599*	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1									p.*162*(1)|p.*599*(1)									GTCTCCTGCTGAGGTTACTGG	0.647000													8	105					0	0	0.307466	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555789	155555789	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:155555789C>A	ENST00000295101.2	+	1	979	c.502C>A	c.(502-504)Ctg>Atg	p.L168M	KCNJ3_ENST00000544049.1_Missense_Mutation_p.L168M	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	168					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCAGTCCATCCTGGGCTCCAT	0.587000													12	89					1.5842e-08	2.10601e-08	0.435327	1	0
RAB33B	83452	broad.mit.edu	37	4	140375377	140375377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:140375377G>T	ENST00000305626.5	+	1	417	c.28G>T	c.(28-30)Gag>Tag	p.E10*	RAB33B_ENST00000507271.1_3'UTR	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GTCGTCGCTCGAGGCAAGCTT	0.597000													6	45					1.06961e-07	1.38474e-07	0.278610	1	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779813	20779813	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:20779813T>A	ENST00000398169.3	-	7	1346	c.730A>T	c.(730-732)Aca>Tca	p.T244S	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.T244S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.T244S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.T244S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.T244S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.T244S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	244						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TCAGGTGCTGTGGGAGAACCC	0.438000			T	HMGA2	leiomyoma								20	105					0	0	0.608945	0	0
MCC	4163	broad.mit.edu	37	5	112418701	112418701	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:112418701G>C	ENST00000302475.4	-	9	1633	c.1070C>G	c.(1069-1071)tCc>tGc	p.S357C	MCC_ENST00000515367.2_Missense_Mutation_p.S294C|MCC_ENST00000408903.3_Missense_Mutation_p.S547C|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	357					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)		CACACTGCTGGATACCTGCAA	0.423000													7	57					0	0	0.278610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994393	140994393	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:140994393G>C	ENST00000285879.4	+	4	1489	c.1203G>C	c.(1201-1203)gaG>gaC	p.E401D	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	401							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTACTTTTGAGGGTTTTCCCC	0.483000										HNSCC(15;0.026)			54	103					0	0	0.870114	0	0
SORCS1	114815	broad.mit.edu	37	10	108536315	108536315	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:108536315G>T	ENST00000263054.6	-	4	869	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	SORCS1_ENST00000344440.6_Missense_Mutation_p.L288M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	288						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGTATGCCAGAATCCAGTCT	0.408000													4	127					0.000602214	0.000667233	0.184627	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21375245	21375245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:21375245C>A	ENST00000256958.2	+	13	1790	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	565					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.P565H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATTGTTCAACCTGAATTGAAA	0.274000													10	77					3.52763e-06	4.26203e-06	0.520397	1	0
SEMA6D	80031	broad.mit.edu	37	15	48055266	48055266	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:48055266C>A	ENST00000316364.5	+	9	1151	c.712C>A	c.(712-714)Cga>Aga	p.R238R	SEMA6D_ENST00000389425.3_Silent_p.R238R|SEMA6D_ENST00000537942.1_Silent_p.R238R|SEMA6D_ENST00000389428.3_Silent_p.R238R|SEMA6D_ENST00000389432.2_Silent_p.R238R|SEMA6D_ENST00000358066.4_Silent_p.R238R|SEMA6D_ENST00000355997.3_Silent_p.R238R|SEMA6D_ENST00000558014.1_Silent_p.R238R|SEMA6D_ENST00000354744.4_Silent_p.R238R|SEMA6D_ENST00000558816.1_Silent_p.R238R|SEMA6D_ENST00000389433.2_Silent_p.R238R|SEMA6D_ENST00000536845.2_Silent_p.R238R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	238	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTCTTCTTTCGAGAAATCGC	0.348000													5	18					0.00116845	0.00127944	0.217242	1	0
PGBD2	267002	broad.mit.edu	37	1	249212453	249212453	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:249212453A>T	ENST00000355360.4	+	3	1187	c.917A>T	c.(916-918)cAg>cTg	p.Q306L	PGBD2_ENST00000329291.5_Missense_Mutation_p.Q557L|PGBD2_ENST00000539153.1_Missense_Mutation_p.Q554L	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	557										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATTATCCATCAGGACAAGAGG	0.552000													32	175					0	0	0.769981	0	0
HK2	3099	broad.mit.edu	37	2	75109285	75109285	+	Silent	SNP	C	C	G	rs140362296	byFrequency	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:75109285C>G	ENST00000290573.2	+	12	2358	c.1758C>G	c.(1756-1758)ctC>ctG	p.L586L	HK2_ENST00000409174.1_Silent_p.L558L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	586	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGGACTTCCTCGAGTACATGG	0.602000													18	85					0	0	0.557998	0	0
KCNA5	3741	broad.mit.edu	37	12	5154245	5154245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:5154245C>A	ENST00000252321.3	+	1	1161	c.932C>A	c.(931-933)aCg>aAg	p.T311K		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	311						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						TCTGGCCCTACGGTGGCACCG	0.711000													15	77					6.72482e-11	9.44731e-11	0.479597	1	0
FBXO38	81545	broad.mit.edu	37	5	147793763	147793763	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:147793763C>G	ENST00000340253.5	+	10	1326	c.1158C>G	c.(1156-1158)atC>atG	p.I386M	FBXO38_ENST00000513826.1_Missense_Mutation_p.I386M|FBXO38_ENST00000394370.3_Missense_Mutation_p.I386M|FBXO38_ENST00000296701.6_Missense_Mutation_p.I386M			Q6PIJ6	FBX38_HUMAN	F-box protein 38	386						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGGTATCATCACTGATA	0.363000													16	84					0	0	0.539581	0	0
THAP11	57215	broad.mit.edu	37	16	67876808	67876808	+	Silent	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667000													4	108					0	0	0.217242	0	0
TPR	7175	broad.mit.edu	37	1	186329077	186329077	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:186329077C>T	ENST00000367478.3	-	12	1539	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	415					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTTTGTTCTCTAGTTTCTCC	0.373000			T	NTRK1	papillary thyroid								9	47					0	0	0.361761	0	0
USP24	23358	broad.mit.edu	37	1	55562736	55562736	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:55562736C>T	ENST00000294383.6	-	49	5824	c.5825G>A	c.(5824-5826)gGa>gAa	p.G1942E	USP24_ENST00000407756.1_Missense_Mutation_p.G1782E	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1942					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCGTGGGGATCCTCCACCGCC	0.498000													3	50					0	0	0.184627	0	0
ITGA4	3676	broad.mit.edu	37	2	182388237	182388237	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:182388237T>G	ENST00000397033.2	+	19	2577	c.2147T>G	c.(2146-2148)aTa>aGa	p.I716R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	716					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATTGGCTATATATATGTAGAT	0.338000													15	63					0	0	0.520397	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936543	74936543	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:74936543T>A	ENST00000569840.2	+	14	2218	c.1644T>A	c.(1642-1644)aaT>aaA	p.N548K	MGAT5B_ENST00000301618.4_Missense_Mutation_p.N546K|MGAT5B_ENST00000428789.2_Missense_Mutation_p.N557K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	548						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCATCGCCAATGGTTGCATCT	0.647000													40	114					0	0	0.870114	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74570457	74570457	+	Silent	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:74570457G>C	ENST00000225276.5	-	3	670	c.351C>G	c.(349-351)ctC>ctG	p.L117L	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	117					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CTTGGTGAGAGAGCCCCCGCC	0.622000													7	39					0	0	0.361761	0	0
ZG16B	124220	broad.mit.edu	37	16	2881899	2881899	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:2881899C>T	ENST00000382280.3	+	4	445	c.366C>T	c.(364-366)gtC>gtT	p.V122V	ZG16B_ENST00000572863.1_Silent_p.V92V	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	122						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCACAAAAGTCTTTGTCGCCT	0.522000													11	50					0	0	0.435327	0	0
ATP10B	23120	broad.mit.edu	37	5	160061536	160061536	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:160061536A>T	ENST00000327245.5	-	12	2052	c.1206T>A	c.(1204-1206)ctT>ctA	p.L402L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	402					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATACAGGTCAAGGTCATTGC	0.478000													12	86					0	0	0.435327	0	0
LRRC18	474354	broad.mit.edu	37	10	50121481	50121481	+	Silent	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:50121481C>G	ENST00000374160.3	-	1	796	c.720G>C	c.(718-720)ctG>ctC	p.L240L	WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Silent_p.L240L|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	240						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGGGTGAGATCAGATTGGGAA	0.542000													41	199					0	0	0.847076	0	0
PTGS1	5742	broad.mit.edu	37	9	125148820	125148820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:125148820C>T	ENST00000362012.2	+	9	1110	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	PTGS1_ENST00000540753.1_Nonsense_Mutation_p.Q344*|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Nonsense_Mutation_p.Q260*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.Q369*	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	369					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GTTCGGTGTCCAGTTCCAATA	0.552000													51	258					0	0	0.870114	0	0
COL24A1	255631	broad.mit.edu	37	1	86252053	86252053	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:86252053C>G	ENST00000370571.2	-	48	4409	c.4043G>C	c.(4042-4044)gGa>gCa	p.G1348A	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1348A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1348	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCCTTGAATTCCTGGGCTTCC	0.502000													18	125					0	0	0.592651	0	0
PDLIM3	27295	broad.mit.edu	37	4	186446247	186446247	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:186446247C>T	ENST00000284767.5	-	2	239	c.172G>A	c.(172-174)Gag>Aag	p.E58K	PDLIM3_ENST00000284770.5_Missense_Mutation_p.E58K|PDLIM3_ENST00000284771.6_Missense_Mutation_p.E58K			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	58	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GTCATGGACTCTGTCCCAAAG	0.488000													19	104					0	0	0.624587	0	0
LRRC7	57554	broad.mit.edu	37	1	70505092	70505092	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:70505092C>A	ENST00000310961.5	+	22	3904	c.3486C>A	c.(3484-3486)agC>agA	p.S1162R	LRRC7_ENST00000035383.5_Missense_Mutation_p.S1157R|LRRC7_ENST00000415775.2_Missense_Mutation_p.S441R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1157						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						GCCAAAGCAGCGTTACAGTGA	0.512000													12	105					5.50884e-06	6.57544e-06	0.411799	1	0
NLRP3	114548	broad.mit.edu	37	1	247587732	247587732	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:247587732C>A	ENST00000366497.2	+	4	1767	c.987C>A	c.(985-987)gaC>gaA	p.D329E	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.D329E|NLRP3_ENST00000366496.2_Missense_Mutation_p.D329E|NLRP3_ENST00000336119.3_Missense_Mutation_p.D329E|NLRP3_ENST00000348069.2_Missense_Mutation_p.D329E|NLRP3_ENST00000391828.3_Missense_Mutation_p.D329E	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	329	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCGGGGAGACATTCTCCTGA	0.582000													17	91					1.33834e-09	1.83571e-09	0.557998	1	0
WBP11	51729	broad.mit.edu	37	12	14946755	14946755	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:14946755C>T	ENST00000261167.2	-	8	1056	c.823G>A	c.(823-825)Gac>Aac	p.D275N	WBP11_ENST00000537574.1_Missense_Mutation_p.D275N	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	275	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TTGTCGGTGTCACTGTCATCA	0.448000													51	279					0	0	0.870114	0	0
GNB2L1	10399	broad.mit.edu	37	5	180670768	180670768	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:180670768G>T	ENST00000512805.1	-	1	441	c.33C>A	c.(31-33)ctC>ctA	p.L11L	GNB2L1_ENST00000376817.4_Silent_p.L11L|GNB2L1_ENST00000504726.1_Silent_p.L11L|GNB2L1_ENST00000511900.1_Silent_p.L11L|GNB2L1_ENST00000456394.2_Silent_p.L11L|GNB2L1_ENST00000511566.1_Silent_p.L11L|GNB2L1_ENST00000505461.1_5'UTR	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	11					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		TGTGGCCCTTGAGGGTGCCAC	0.597000													3	20					0.184627	0.187411	0.184627	1	0
ASIC2	40	broad.mit.edu	37	17	32483206	32483206	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:32483206G>C	ENST00000359872.6	-	1	1107	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	116					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACATCCAGCAGGGCCAGCAGC	0.602000													10	89					0	0	0.335167	0	0
UPP2	151531	broad.mit.edu	37	2	158971768	158971768	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:158971768C>A	ENST00000605860.1	+	6	553	c.507C>A	c.(505-507)atC>atA	p.I169I	UPP2_ENST00000409859.4_Silent_p.I169I|UPP2_ENST00000005756.4_Silent_p.I112I|UPP2_ENST00000460456.1_Intron			O95045	UPP2_HUMAN	uridine phosphorylase 2	112					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TGCTCGCCATCAGTGTAAGTA	0.458000													7	59					2.52707e-12	3.64131e-12	0.335167	1	0
CHST6	4166	broad.mit.edu	37	16	75513272	75513272	+	Missense_Mutation	SNP	A	A	G	rs142954809		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:75513272A>G	ENST00000332272.4	-	3	634	c.455T>C	c.(454-456)cTg>cCg	p.L152P	CHST6_ENST00000390664.2_Missense_Mutation_p.L152P|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	152			L -> P (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCGCGCGCACAGTGGCTTGCA	0.677000													15	57					0	0	0.681144	0	0
TAOK3	51347	broad.mit.edu	37	12	118673477	118673477	+	Splice_Site	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:118673477C>A	ENST00000392533.3	-	8	928		c.e8-1		TAOK3_ENST00000419821.2_Splice_Site	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3						MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTAATATCCCTATAGGAAAA	0.338000													18	26					1.99824e-07	2.55744e-07	0.520397	1	0
ODF1	4956	broad.mit.edu	37	8	103572925	103572925	+	Missense_Mutation	SNP	C	C	A	rs149163506		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:103572925C>A	ENST00000285402.3	+	2	722	c.566C>A	c.(565-567)tCc>tAc	p.S189Y	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	189					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GTAACATACTCCTATGGGCTC	0.547000													12	47					0.00136819	0.00149524	0.411799	1	0
PRELP	5549	broad.mit.edu	37	1	203456003	203456003	+	Silent	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:203456003C>A	ENST00000343110.2	+	3	1270	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	381					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGTCCGTGGTCATCTAGGCCC	0.612000													4	22					1.23904e-05	1.45825e-05	0.184627	1	0
YTHDF1	54915	broad.mit.edu	37	20	61834373	61834373	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr20:61834373C>A	ENST00000370339.3	-	4	1260	c.919G>T	c.(919-921)Gca>Tca	p.A307S	YTHDF1_ENST00000370333.4_Missense_Mutation_p.A257S|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	307	Gln/Pro-rich.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGGGCTGTGCTGGGAGAGGC	0.672000													11	30					3.07112e-06	3.71848e-06	0.387290	1	0
CDH2	1000	broad.mit.edu	37	18	25616436	25616436	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:25616436G>A	ENST00000399380.3	-	1	113	c.77C>T	c.(76-78)tCa>tTa	p.S26L	CDH2_ENST00000269141.3_Intron			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	57					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGTTACCTGAAAGGAAAAC	0.308000													17	89					0	0	0.575678	0	0
ANGPT2	285	broad.mit.edu	37	8	6420408	6420408	+	Silent	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:6420408G>T	ENST00000325203.5	-	1	522	c.48C>A	c.(46-48)gcC>gcA	p.A16A	ANGPT2_ENST00000338312.6_Silent_p.A16A|ANGPT2_ENST00000523120.1_Silent_p.A16A|ANGPT2_ENST00000415216.1_Silent_p.A16A|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	16					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TATAGGCTGCGGCCAAGACAA	0.463000													5	46					1.23904e-05	1.45825e-05	0.184627	1	0
GLRA4	441509	broad.mit.edu	37	X	102968473	102968473	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:102968473C>A	ENST00000372617.4	-	8	1478	c.1058G>T	c.(1057-1059)cGa>cTa	p.R353L	TMEM31_ENST00000319560.6_Intron	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	353						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGCCTTCTTCGAAGTCGTAT	0.517000													9	22					1.12685e-05	1.33556e-05	0.307466	1	0
RAG2	5897	broad.mit.edu	37	11	36615309	36615309	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:36615309C>A	ENST00000311485.3	-	2	571	c.410G>T	c.(409-411)aGa>aTa	p.R137I		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	137					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATGACCATATCTGGCTTCAGG	0.423000									Familial Hemophagocytic Lymphohistiocytosis				25	87					6.00712e-18	9.33517e-18	0.760397	1	0
DSCAM	1826	broad.mit.edu	37	21	41550860	41550860	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:41550860C>T	ENST00000400454.1	-	15	3418	c.2941G>A	c.(2941-2943)Gag>Aag	p.E981K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	981					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)				GTACCTGCCTCGTCCGCCGTG	0.592000													11	49					0	0	0.457914	0	0
XIRP2	129446	broad.mit.edu	37	2	168107865	168107865	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:168107865G>T	ENST00000409195.1	+	9	10052	c.9963G>T	c.(9961-9963)atG>atT	p.M3321I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M3099I|XIRP2_ENST00000295237.9_Missense_Mutation_p.M3321I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3146					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGTTCAAATGGCTGAAAATT	0.433000													6	112					3.59834e-05	4.17943e-05	0.217242	1	0
CDKL2	8999	broad.mit.edu	37	4	76551107	76551107	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:76551107C>T	ENST00000429927.2	-	2	769	c.66G>A	c.(64-66)agG>agA	p.R22R	CDKL2_ENST00000307465.4_Silent_p.R22R	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	22	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATCTTTATTCCTACACTTCA	0.343000													26	83					0	0	0.740014	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088676	65088676	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:65088676C>G	ENST00000544348.1	+	2	913	c.307C>G	c.(307-309)Ctg>Gtg	p.L103V	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.L103V|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.L103V			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	103					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CCCATCCCCTCTGCTCAAGAA	0.682000													7	95					0	0	0.278610	0	0
LVRN	206338	broad.mit.edu	37	5	115361776	115361776	+	Silent	SNP	A	A	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:115361776A>T	ENST00000357872.4	+	20	3058	c.2934A>T	c.(2932-2934)ctA>ctT	p.L978L	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		978					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ACAAGAAGCTAAGTGCCAGGA	0.398000													4	45					0	0	0.217242	0	0
POLR3E	55718	broad.mit.edu	37	16	22325045	22325045	+	Nonsense_Mutation	SNP	G	G	T	rs150646233		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:22325045G>T	ENST00000299853.5	+	7	636	c.469G>T	c.(469-471)Gag>Tag	p.E157*	POLR3E_ENST00000359210.4_Nonsense_Mutation_p.E157*|POLR3E_ENST00000418581.2_Nonsense_Mutation_p.E121*|POLR3E_ENST00000564209.1_Nonsense_Mutation_p.E157*	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	157					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GGCGGCCAACGAGGGTGAGCC	0.622000													10	41					9.31168e-06	1.1091e-05	0.435327	1	0
CACNA1A	773	broad.mit.edu	37	19	13368268	13368268	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:13368268C>T	ENST00000360228.5	-	28	4485	c.4486G>A	c.(4486-4488)Gtg>Atg	p.V1496M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1497M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1497					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGGGGAACACCACAAAGTAG	0.517000													6	19					0	0	0.248553	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379939	204379939	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:204379939C>A	ENST00000367188.4	-	1	980	c.601G>T	c.(601-603)Ggc>Tgc	p.G201C	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	201					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GGCGAAGAGCCAAGTTCCCGG	0.527000													25	136					2.65835e-16	4.05989e-16	0.717897	1	0
KRT26	353288	broad.mit.edu	37	17	38927455	38927455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:38927455C>A	ENST00000335552.4	-	2	523	c.475G>T	c.(475-477)Gtt>Ttt	p.V159F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	159	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTTTGTAGAACAATGCTGGCA	0.353000													9	38					3.86212e-05	4.46732e-05	0.361761	1	0
NME6	10201	broad.mit.edu	37	3	48336270	48336270	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:48336270C>G	ENST00000421967.1	-	6	487	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	NME6_ENST00000452211.1_Missense_Mutation_p.E140Q|NME6_ENST00000450160.1_Missense_Mutation_p.E126D|NME6_ENST00000451657.1_Missense_Mutation_p.E126D|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000435684.1_Missense_Mutation_p.E126D|NME6_ENST00000415053.1_Missense_Mutation_p.E140Q|NME6_ENST00000426723.1_Missense_Mutation_p.E73Q|NME6_ENST00000447314.1_Missense_Mutation_p.E95Q|NME6_ENST00000442597.1_Missense_Mutation_p.E140Q|NME6_ENST00000415644.1_Missense_Mutation_p.E73Q|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000426689.2_Missense_Mutation_p.E140Q	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	140					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCTGCAATCTCTCTGCTGGCT	0.532000													11	79					0	0	0.479597	0	0
ITGB2	3689	broad.mit.edu	37	21	46330670	46330670	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr21:46330670C>T	ENST00000397850.2	-	3	480	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ITGB2_ENST00000397857.1_Missense_Mutation_p.A10T|ITGB2_ENST00000355153.4_Missense_Mutation_p.A10T|ITGB2_ENST00000302347.5_Missense_Mutation_p.A10T|ITGB2_ENST00000397846.3_Missense_Mutation_p.A10T|ITGB2_ENST00000397852.1_Missense_Mutation_p.A10T|ITGB2_ENST00000397854.3_Missense_Mutation_p.A10T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	10					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCCACCAGGGCGAGCAGTGGG	0.667000													11	34					0	0	0.520397	0	0
TNN	63923	broad.mit.edu	37	1	175087877	175087877	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:175087877G>T	ENST00000239462.4	+	11	2680	c.2567G>T	c.(2566-2568)aGg>aTg	p.R856M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	856	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACGGGCCTGAGGCCGGGCATG	0.592000													17	101					3.51602e-12	5.05334e-12	0.575678	1	0
TENC1	23371	broad.mit.edu	37	12	53454531	53454531	+	Silent	SNP	C	C	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:53454531C>T	ENST00000314250.6	+	20	3131	c.2841C>T	c.(2839-2841)ccC>ccT	p.P947P	TENC1_ENST00000546602.1_Silent_p.P850P|TENC1_ENST00000451358.1_Silent_p.P937P|TENC1_ENST00000379902.3_Silent_p.P823P|TENC1_ENST00000314276.3_Silent_p.P957P|TENC1_ENST00000552570.1_Silent_p.P947P|TENC1_ENST00000549700.1_Silent_p.P882P	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	947	Pro-rich.				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						AGGCCTTGCCCCCTGTTTCCC	0.677000													4	35					0	0	0.150653	0	0
SLC9A3	6550	broad.mit.edu	37	5	488505	488505	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:488505C>G	ENST00000264938.3	-	3	610	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	SLC9A3_ENST00000514375.1_Missense_Mutation_p.E201Q	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	201						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGGACCTCCTCAAACACGGCC	0.622000													8	55					0	0	0.278610	0	0
KCNK9	51305	broad.mit.edu	37	8	140630618	140630618	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr8:140630618C>G	ENST00000520439.1	-	2	1071	c.1008G>C	c.(1006-1008)gaG>gaC	p.E336D	KCNK9_ENST00000303015.1_Missense_Mutation_p.E336D			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	336						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TTGGTGAGATCTCCTCGATCT	0.547000													39	78					0	0	0.864702	0	0
TCHH	7062	broad.mit.edu	37	1	152084342	152084342	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:152084342G>T	ENST00000368804.1	-	2	1350	c.1351C>A	c.(1351-1353)Cag>Aag	p.Q451K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	451	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctctcctcctgctcgcgcttc	0.682000													25	99					3.65163e-15	5.47744e-15	0.706142	1	0
DRAXIN	374946	broad.mit.edu	37	1	11766739	11766740	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:11766739_11766740delCG	ENST00000294485.5	+	2	559_560	c.424_425delCG	c.(424-426)cfs	p.R143fs		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GCACAAGAGACGCAGGGACAGG	0.629													8	23	---	---	---	---					
SLFNL1	200172	broad.mit.edu	37	1	41483806	41483808	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:41483806_41483808delTCC	ENST00000359345.1	-	2	3032_3034	c.456_458delGGA	c.(454-459)gac>ga	p.ED152del	SLFNL1_ENST00000439569.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000302946.8_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000397197.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372613.2_In_Frame_Del_p.ED152del	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	152							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGGCCACTGtcctcctcctcct	0.626													3	4	---	---	---	---					
PTCH2	8643	broad.mit.edu	37	1	45292983	45292984	+	Splice_Site	INS	-	-	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:45292983_45292984insG	ENST00000447098.2	-	16	2383		c.e16-2		PTCH2_ENST00000372192.3_Splice_Site	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2						protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCTGGATTCCTGGGGGAGACCA	0.644									Basal Cell Nevus syndrome				24	113	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143189433	143189433	+	RNA	DEL	C	C	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:143189433delC	ENST00000412204.2	-	0	2503				RP11-782C8.3_ENST00000425124.1_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA																							ATGTGGCTTACCCGTGGATTC	0.323													9	163	---	---	---	---					
FCRLA	84824	broad.mit.edu	37	1	161680614	161680614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:161680614delG	ENST00000367959.2	+	3	455	c.213delG	c.(211-213)acfs	p.T71fs	FCRLA_ENST00000367949.2_Frame_Shift_Del_p.T65fs|FCRLA_ENST00000367950.1_Frame_Shift_Del_p.T25fs|FCRLA_ENST00000367953.3_Frame_Shift_Del_p.T54fs|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Frame_Shift_Del_p.T48fs|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Frame_Shift_Del_p.T48fs|FCRLA_ENST00000236938.6_Frame_Shift_Del_p.T65fs|FCRLA_ENST00000546024.1_Frame_Shift_Del_p.T65fs|FCRLA_ENST00000540926.1_Frame_Shift_Del_p.T54fs|FCRLA_ENST00000540521.1_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	48	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCTGCCACACGGAGGATGACT	0.557													15	70	---	---	---	---					
OR6F1	343169	broad.mit.edu	37	1	247875245	247875245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:247875245delG	ENST00000302084.2	-	1	860	c.813delC	c.(811-813)atfs	p.I271fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACAGCTTTGATCAGATCCA	0.478													31	106	---	---	---	---					
OR2M5	127059	broad.mit.edu	37	1	248308867	248308868	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr1:248308867_248308868insT	ENST00000366476.1	+	1	418_419	c.418_419insT	c.(418-420)ttgfs	p.L140fs		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAGACCCAAAATTTGTGGACTT	0.465													71	423	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43451740	43451742	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:43451740_43451742delCTG	ENST00000282388.3	-	2	1494_1496	c.1201_1203delCAG	c.(1201-1203)del	p.Q401del	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	401	Poly-Gln.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gcgccaggccctgctgctgctgc	0.764													2	4	---	---	---	---					
OSBPL6	114880	broad.mit.edu	37	2	179196308	179196308	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:179196308delA	ENST00000190611.4	+	6	724	c.348delA	c.(346-348)ttfs	p.L116fs	OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000409045.3_Frame_Shift_Del_p.L116fs|OSBPL6_ENST00000392505.2_Frame_Shift_Del_p.L116fs|OSBPL6_ENST00000359685.3_Frame_Shift_Del_p.L116fs|OSBPL6_ENST00000357080.4_Frame_Shift_Del_p.L116fs|OSBPL6_ENST00000409631.1_Frame_Shift_Del_p.L116fs|OSBPL6_ENST00000315022.2_Frame_Shift_Del_p.L95fs	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	116	PH.				lipid transport		lipid binding	p.L116L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATGGAATGTTAAAGTATTCAA	0.373													51	243	---	---	---	---					
COL3A1	1281	broad.mit.edu	37	2	189859465	189859465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr2:189859465delC	ENST00000304636.3	+	20	1533	c.1363delC	c.(1363-1365)cafs	p.P455fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.P455fs	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	455	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCTGGTATTCCAGGTGTTCC	0.403													8	82	---	---	---	---					
IMPG2	50939	broad.mit.edu	37	3	101038582	101038582	+	Frame_Shift_Del	DEL	G	G	-	rs79178399		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr3:101038582delG	ENST00000193391.7	-	2	367	c.180delC	c.(178-180)acfs	p.T60fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	60					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTTTCTTTTTGGTAGCTAGAG	0.438													8	141	---	---	---	---					
FGF5	2250	broad.mit.edu	37	4	81187992	81187994	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr4:81187992_81187994delTCC	ENST00000456523.3	+	1	200_202	c.14_16delTCC	c.(13-18)ttc>t	p.FL5del	FGF5_ENST00000312465.7_In_Frame_Del_p.FL5del	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	5					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCTTGTCCTTCCTCCTCCTCCT	0.631													7	205	---	---	---	---					
CDH6	1004	broad.mit.edu	37	5	31318112	31318113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:31318112_31318113insC	ENST00000514738.1	+	11	2228_2229	c.1798_1799insC	c.(1798-1800)cccfs	p.P600fs	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTATCTGCCTCCCCCATTAAG	0.475													7	44	---	---	---	---					
IQGAP2	10788	broad.mit.edu	37	5	75978968	75978968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr5:75978968delC	ENST00000274364.6	+	29	3986	c.3689delC	c.(3688-3690)gcfs	p.A1230fs	IQGAP2_ENST00000379730.3_Frame_Shift_Del_p.A732fs|IQGAP2_ENST00000396234.3_Frame_Shift_Del_p.A726fs|IQGAP2_ENST00000502745.1_Frame_Shift_Del_p.A726fs	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1230					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GATGCAATTGCCCCTGAGAAA	0.403													26	187	---	---	---	---					
PRDM13	59336	broad.mit.edu	37	6	100055054	100055054	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr6:100055054delG	ENST00000369214.1	+	1	405	c.144delG	c.(142-144)aafs	p.K48fs	PRDM13_ENST00000369215.4_Splice_Site_p.K48_splice	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	48	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTAAGAAAAAGGTATTGACCA	0.602													18	85	---	---	---	---					
DLX5	1749	broad.mit.edu	37	7	96650310	96650310	+	Frame_Shift_Del	DEL	G	G	-	rs145966633		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr7:96650310delG	ENST00000222598.4	-	3	1081	c.608delC	c.(607-609)cgfs	p.P203fs	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	203					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ACTGTGCTCCGGGGGCATCTC	0.582													7	61	---	---	---	---					
VLDLR-AS1	401491	broad.mit.edu	37	9	2552346	2552347	+	RNA	INS	-	-	A	rs71492001	by1000genomes	TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr9:2552346_2552347insA	ENST00000416826.2	-	0	185				RP11-125B21.2_ENST00000424605.1_RNA|RP11-125B21.2_ENST00000453601.1_RNA																							TCTCTAAATCCAAAAAAAATGT	0.386													6	1	---	---	---	---					
ARHGAP21	57584	broad.mit.edu	37	10	24880167	24880168	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:24880167_24880168insG	ENST00000396432.2	-	24	4622_4623	c.4136_4137insC	c.(4135-4137)cggfs	p.R1379fs	ARHGAP21_ENST00000320481.6_Frame_Shift_Ins_p.R1166fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1378					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATACATCTCCTGGGGAGACTCC	0.441													24	167	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121459	38121460	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr10:38121459_38121460insA	ENST00000395867.3	-	6	1373_1374	c.823_824insT	c.(823-825)cggfs	p.R275fs	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.R275fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GGACTTCCCGCAAATACTGCAT	0.371													16	94	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423													4	7	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40136491	40136491	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:40136491delA	ENST00000278198.2	-	2	3315	c.1352delT	c.(1351-1353)tcfs	p.F451fs	LRRC4C_ENST00000527150.1_Frame_Shift_Del_p.F451fs|LRRC4C_ENST00000530763.1_Frame_Shift_Del_p.F451fs|LRRC4C_ENST00000528697.1_Frame_Shift_Del_p.F451fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	451					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAAGTAAGAGAAAGGAGTAGT	0.488													25	99	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62293132	62293132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:62293132delG	ENST00000378024.4	-	5	9031	c.8757delC	c.(8755-8757)ccfs	p.P2919fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2919					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGTCAGCCTTGGGCAGGTTCA	0.527													59	410	---	---	---	---					
ST13P11	728162	broad.mit.edu	37	11	94646756	94646756	+	RNA	DEL	G	G	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr11:94646756delG	ENST00000545958.1	-	0	97																											CCTTGCAAATGGCGAGGGAAA	0.478													32	208	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)del	p.S52del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		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)			TTCCTGGAGGAGATGGGGGACCT	0.557													7	457	---	---	---	---					
OTOGL	283310	broad.mit.edu	37	12	80650120	80650121	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr12:80650120_80650121insT	ENST00000458043.2	+	16	1570_1571	c.1564_1565insT	c.(1564-1566)tggfs	p.W522fs	OTOGL_ENST00000547103.1_Frame_Shift_Ins_p.W522fs	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TACGCAGAATCTTGGCTTGGTC	0.446													9	27	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gct>gc	p.AA162del		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749													7	4	---	---	---	---					
MYO9A	4649	broad.mit.edu	37	15	72192107	72192107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr15:72192107delC	ENST00000356056.5	-	24	3863	c.3391delG	c.(3391-3393)aafs	p.E1131fs	MYO9A_ENST00000444904.1_Frame_Shift_Del_p.E1112fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.E1131fs|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.E1131fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.E751fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1131	IQ 4.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTTTACTTTCCCTGTAGGCT	0.403													13	48	---	---	---	---					
ALDOA	226	broad.mit.edu	37	16	30079983	30079984	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:30079983_30079984insCC	ENST00000566897.1	+	7	1493_1494	c.341_342insCC	c.(340-342)gccfs	p.A114fs	ALDOA_ENST00000569798.1_Frame_Shift_Ins_p.A114fs|ALDOA_ENST00000569545.1_Frame_Shift_Ins_p.A114fs|ALDOA_ENST00000563060.2_Frame_Shift_Ins_p.A114fs|ALDOA_ENST00000564546.1_Frame_Shift_Ins_p.A114fs|ALDOA_ENST00000564595.2_Frame_Shift_Ins_p.A168fs|ALDOA_ENST00000395248.1_Frame_Shift_Ins_p.A168fs|ALDOA_ENST00000395240.3_Frame_Shift_Ins_p.A114fs|ALDOA_ENST00000338110.5_Frame_Shift_Ins_p.A114fs|ALDOA_ENST00000412304.2_Frame_Shift_Ins_p.A114fs			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	114					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						AAGGGCGTGGTCCCCCTGGCAG	0.559													14	101	---	---	---	---					
DUS2	54920	broad.mit.edu	37	16	68088476	68088476	+	Splice_Site	DEL	G	G	-	rs139683409		TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr16:68088476delG	ENST00000565263.1	+	6	758		c.e6-1		DUS2L_ENST00000432752.1_Intron|DUS2L_ENST00000358896.6_Splice_Site	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN							tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TGTGTTCCCAGGGGACTTCAG	0.542													30	216	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25755776	25755776	+	RNA	DEL	C	C	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:25755776delC	ENST00000586223.1	+	0	1595					NR_033892.1																						GGACCTGCCACCCCCAGGTGG	0.532													20	203	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44248731	44248732	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:44248731_44248732insA	ENST00000262419.6	-	2	1248_1249	c.778_779insT	c.(778-780)tgtfs	p.C260fs	KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.C260fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.C260fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.C260fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.C260fs|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	260						MLL1 complex	protein binding										CAATTTGACACCCCCCAAGTTA	0.470													14	147	---	---	---	---					
PHOSPHO1	162466	broad.mit.edu	37	17	47301891	47301891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr17:47301891delT	ENST00000413580.1	-	3	1013	c.596delA	c.(595-597)acfs	p.N199fs	PHOSPHO1_ENST00000514112.1_Frame_Shift_Del_p.N199fs|PHOSPHO1_ENST00000310544.4_Frame_Shift_Del_p.N174fs	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	174					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	CTTGCACATGTTGGCGGGGCA	0.697													2	4	---	---	---	---					
MBD2	8932	broad.mit.edu	37	18	51750459	51750459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr18:51750459delG	ENST00000256429.3	-	1	699	c.471delC	c.(469-471)ccfs	p.P157fs	MBD2_ENST00000398398.2_Frame_Shift_Del_p.P157fs|MBD2_ENST00000583046.1_Frame_Shift_Del_p.P157fs	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	157	MBD.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TCTTCCATCCGGGGGGGAGGG	0.687													7	67	---	---	---	---					
LMTK3	114783	broad.mit.edu	37	19	49002562	49002562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:49002562delG	ENST00000600059.1	-	11	1991	c.1764delC	c.(1762-1764)ctfs	p.L588fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.L617fs					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCGCAGGGAAGAGGGGGGAGG	0.761													2	4	---	---	---	---					
LILRB3	11025	broad.mit.edu	37	19	54725745	54725746	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr19:54725745_54725746insG	ENST00000391750.1	-	5	748_749	c.612_613insC	c.(610-615)ccgggtfs	p.PG204fs	LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000245620.9_Frame_Shift_Ins_p.PG204fs|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.PG204fs|LILRB3_ENST00000346401.6_Frame_Shift_Ins_p.PG204fs|LILRB3_ENST00000424807.1_Frame_Shift_Ins_p.PG204fs|LILRA6_ENST00000391735.3_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	204	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACACCCAGGGGGTGTTTG	0.609													7	182	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gcc>g	p.DA171del		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													9	63	---	---	---	---					
RGAG1	57529	broad.mit.edu	37	X	109697320	109697321	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8089-01A-11D-2238-08	TCGA-55-8089-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5056023-b935-4a18-821b-2ff8562b2c2a	4380ca33-2c75-4d97-9112-38a626c1cc6d	g.chrX:109697320_109697321insG	ENST00000465301.2	+	3	3721_3722	c.3475_3476insG	c.(3475-3477)gggfs	p.G1159fs	RGAG1_ENST00000540313.1_Frame_Shift_Ins_p.G1159fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1159										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGAAGCAGCCCGGGGCTCATGC	0.500													18	62	---	---	---	---					
