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
ACOT11	26027	broad.mit.edu	37	1	55096492	55096492	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:55096492G>A	uc001cxm.2	+	15	1891	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H		NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	572	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.R572H(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						tcaaagggtcgcaggagcgac	0.547												
PGM1	5236	broad.mit.edu	37	1	64100595	64100595	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:64100595C>T	uc010ooz.2	+	4	1077	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PGM1_uc001dbh.3_Missense_Mutation_p.H260Y|PGM1_uc010ooy.2_Missense_Mutation_p.H63Y	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	260					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTTGGAGGCCACCACCCTGA	0.547												
TCHH	7062	broad.mit.edu	37	1	152084715	152084735	+	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	CTCCTGCTGCTCGCGCCTCTC	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	uc009wne.1	-	2	1230_1250	c.958_978delGAGAGGCGCGAGCAGCAGGAG	c.(958-978)gagaggcgcgagcagcaggagdel	p.ERREQQE320del	TCHH_uc001ezp.2_In_Frame_Del_p.ERREQQE320del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	320	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				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)			gctcgcgcctctcctgctgctcgcgcctctcctcctgctgc	0.692												
HMCN1	83872	broad.mit.edu	37	1	185956668	185956668	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:185956668T>C	uc001grq.1	+	19	3269	c.3040T>C	c.(3040-3042)Tgg>Cgg	p.W1014R	HMCN1_uc001grr.1_Missense_Mutation_p.W355R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1014	Ig-like C2-type 7.				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						GTCTGTCATCTGGTCCAAGGT	0.453												
CFHR5	81494	broad.mit.edu	37	1	196964877	196964877	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:196964877A>T	uc001gts.4	+	4	766	c.638A>T	c.(637-639)cAa>cTa	p.Q213L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	213	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCACCTCCTCAACTCTCCAAT	0.333												
OBSCN	84033	broad.mit.edu	37	1	228400217	228400217	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:228400217C>T	uc009xez.1	+	1	777	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	OBSCN_uc001hsn.3_Missense_Mutation_p.R245C|AK056556_uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	245	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R245C(3)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCGGCACGCGCACCTGCAC	0.746												
KIAA1804	84451	broad.mit.edu	37	1	233511808	233511808	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:233511808G>C	uc001hvt.4	+	6	2083	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	KIAA1804_uc001hvu.4_Missense_Mutation_p.E54Q	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	608					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGATTGCAAAGAAAGGTACGT	0.348												
TARBP1	6894	broad.mit.edu	37	1	234541656	234541656	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:234541656C>T	uc001hwd.3	-	23	3982	c.3982G>A	c.(3982-3984)Gga>Aga	p.G1328R		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1328					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TACCCTGCTCCGTGCATGCTT	0.532												
CUBN	8029	broad.mit.edu	37	10	16994307	16994307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:16994307delT	uc001ioo.3	-	32	4989	c.4937delA	c.(4936-4938)aacfs	p.N1646fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1646	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGCTGCAGTTCTGATTGTT	0.478												
PTEN	5728	broad.mit.edu	37	10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:89711928delA	uc001kfb.3	+	5	1578	c.546delA	c.(544-546)ttafs	p.L182fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	182	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
SORCS3	22986	broad.mit.edu	37	10	106960921	106960921	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:106960921G>A	uc001kyi.1	+	15	2398	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	724						integral to membrane	neuropeptide receptor activity	p.R724H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCAAGAAACGTAAGCCAGGA	0.468												
OR51G1	79324	broad.mit.edu	37	11	4944755	4944755	+	Missense_Mutation	SNP	C	C	T	rs146006146	by1000genomes	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:4944755C>T	uc010qyr.2	-	0	815	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTACAACGCGGGGCAGATG	0.502												
LPXN	9404	broad.mit.edu	37	11	58338166	58338166	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:58338166C>T	uc001nmw.3	-	1	179	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Missense_Mutation_p.E17K|LPXN_uc010rkk.2_Nonsense_Mutation_p.W7*	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	12					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGGAGCGTTCCAGTTCCTCC	0.433												
DAGLA	747	broad.mit.edu	37	11	61511463	61511463	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:61511463C>T	uc001nsa.3	+	19	2747	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	877					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCCAATGACGAGGAGGAAG	0.726												
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:89106662_89106663insA	uc001pct.3	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.3_Splice_Site_p.C334_splice|NOX4_uc001pcu.3_Splice_Site_p.C285_splice|NOX4_uc001pcw.3_Splice_Site_p.C52_splice|NOX4_uc001pcx.3_Splice_Site_p.C52_splice|NOX4_uc001pcv.3_Splice_Site_p.C359_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site_p.C193_splice|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Splice_Site_p.C335_splice|NOX4_uc009yvq.3_Splice_Site_p.C335_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	359	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292												
TRIM49	57093	broad.mit.edu	37	11	89531775	89531775	+	Silent	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:89531775T>C	uc001pdb.3	-	7	1211	c.882A>G	c.(880-882)gaA>gaG	p.E294E		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	294	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGGCTTCTTCATGATGCA	0.313												
BARX2	8538	broad.mit.edu	37	11	129306839	129306839	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:129306839G>A	uc001qfc.4	+	1	431	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	127										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AACAGCCCACGCCCCGACAGA	0.637												
SLC38A4	55089	broad.mit.edu	37	12	47186771	47186771	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:47186771G>A	uc001rpi.2	-	2	483	c.84C>T	c.(82-84)atC>atT	p.I28I	SLC38A4_uc001rpj.2_Silent_p.I28I|SLC38A4_uc009zkl.2_Silent_p.I28I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	28					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCCTATCCCGATGTAGCTAT	0.438												
TRHDE	29953	broad.mit.edu	37	12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:73046870G>A	uc001sxa.3	+	16	2813	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	928					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.A927S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353												
SLC5A8	160728	broad.mit.edu	37	12	101588904	101588904	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:101588904G>A	uc001thz.4	-	3	896	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	169					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACCACCCCCGTTGCCACTAC	0.398												
TMEM132D	121256	broad.mit.edu	37	12	130185158	130185158	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:130185158G>A	uc009zyl.1	-	1	493	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	55						integral to membrane		p.N55T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGACGTCCGCGTTGTTGATGT	0.547												
MTUS2	23281	broad.mit.edu	37	13	29599206	29599206	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr13:29599206C>T	uc001usl.4	+	0	459	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	124						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGCAGACCACGCGGAGTATT	0.502												
KIF26A	26153	broad.mit.edu	37	14	104641823	104641823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr14:104641823C>T	uc001yos.4	+	11	2698	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	900					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)		CAGCACCCCTCGAGGCAGTTC	0.692												
CA12	771	broad.mit.edu	37	15	63618489	63618489	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:63618489C>T	uc002amc.3	-	10	1216	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	CA12_uc002amd.3_Missense_Mutation_p.A343T|CA12_uc002ame.3_Missense_Mutation_p.A283T	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	354					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	p.H353H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGACCTCAAGCGTGGGCCTCA	0.507												
GOLGA6B	55889	broad.mit.edu	37	15	72954612	72954612	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:72954612G>A	uc010uks.1	+	10	908	c.867G>A	c.(865-867)gcG>gcA	p.A289A	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	289								p.A289A(2)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537												
CMC2	56942	broad.mit.edu	37	16	81015432	81015432	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr16:81015432C>T	uc002ffu.3	-	2	331	c.132G>A	c.(130-132)ttG>ttA	p.L44L		NM_020188	NP_064573	Q9NRP2	CP061_HUMAN	Homo sapiens chromosome 16 open reading frame 61 (C16orf61), mRNA.	44																	GGCATTTTCTCAACTCCCGAT	0.323												
AURKB	9212	broad.mit.edu	37	17	8108652	8108652	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:8108652C>T	uc002gkn.3	-	7	807	c.746G>A	c.(745-747)cGc>cAc	p.R249H	AURKB_uc021tpy.1_Missense_Mutation_p.R216H|AURKB_uc010cnu.3_Missense_Mutation_p.R68H|AURKB_uc002gkm.3_Missense_Mutation_p.R248H|AURKB_uc010vuu.2_Missense_Mutation_p.R207H|AURKB_uc002gko.3_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	Homo sapiens aurora kinase B (AURKB), mRNA.	248	Protein kinase.			MH -> ID (in Ref. 3; BAA82709).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						ATTGTGCATGCGCCCCTCAAT	0.572												
KRT20	54474	broad.mit.edu	37	17	39041110	39041110	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:39041110C>T	uc002hvl.3	-	0	386	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	110	Linker 1.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCCCTCGGGGCGTTGGTTTCG	0.498												
PLEKHH3	79990	broad.mit.edu	37	17	40823101	40823101	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:40823101G>A	uc002iau.2	-	8	1799	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Silent_p.N444N	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	444	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGCGAATGCGTTGCGGCTCC	0.657												
ST8SIA5	29906	broad.mit.edu	37	18	44260326	44260326	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr18:44260326C>T	uc010xcy.1	-	7	1486	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ST8SIA5_uc002lci.1_Silent_p.S117S|ST8SIA5_uc002lcj.1_Silent_p.S270S|ST8SIA5_uc010xcz.1_Silent_p.S239S	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	270					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCTTGCGGCGATTCGAAGT	0.617												
HOOK2	29911	broad.mit.edu	37	19	12874555	12874555	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:12874555G>A	uc002muy.2	-	20	2036	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	HOOK2_uc002muz.2_Missense_Mutation_p.A620V	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	622	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGGTGCCCCCGCAGCTGGCCG	0.602												
MAST3	23031	broad.mit.edu	37	19	18255858	18255858	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:18255858C>G	uc002nhz.4	+	22	2771	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	924	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCCCGCGCTCTCTGTCCTCG	0.692												
ZNF569	148266	broad.mit.edu	37	19	37903536	37903536	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:37903536G>A	uc002ogj.3	-	8	3028	c.2096C>T	c.(2095-2097)tCg>tTg	p.S699L	ZNF569_uc002ogh.3_Missense_Mutation_p.S516L|ZNF569_uc002ogi.3_Missense_Mutation_p.S675L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACAAGGTGCGACTTTTGGCT	0.413												
MED29	55588	broad.mit.edu	37	19	39883120	39883120	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:39883120C>T	uc002olf.3	+	1	333	c.296C>T	c.(295-297)gCg>gTg	p.A99V	PAF1_uc002old.3_5'Flank|PAF1_uc010xuv.2_5'Flank|PAF1_uc002ole.1_5'Flank|MED29_uc010xux.2_Intron	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Homo sapiens mediator complex subunit 29 (MED29), mRNA.	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGAAGGTTGCGGCCCAAAAC	0.418												
ZNF229	7772	broad.mit.edu	37	19	44932748	44932748	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:44932748G>A	uc002oze.1	-	5	2642	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G736G(4)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGGCTTCTCGCCAGTGTGCA	0.488												
HIF3A	64344	broad.mit.edu	37	19	46825102	46825102	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:46825102A>C	uc002peh.3	+	9	1245	c.1214A>C	c.(1213-1215)gAc>gCc	p.D405A	HIF3A_uc002peg.4_Missense_Mutation_p.D405A|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.D349A|HIF3A_uc002pej.2_Missense_Mutation_p.D336A|HIF3A_uc010xxy.2_Missense_Mutation_p.D336A|HIF3A_uc002pel.3_Missense_Mutation_p.D403A|HIF3A_uc010xxz.2_Missense_Mutation_p.D354A	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGGCCGCTGACCCCCGCCGT	0.692												
GRIN2D	2906	broad.mit.edu	37	19	48919313	48919313	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:48919313C>T	uc002pjc.4	+	6	1724	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	546						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)	CAACGAGGAGCGCTCCGAGAT	0.672												
ZNF320	162967	broad.mit.edu	37	19	53384360	53384360	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53384360C>T	uc002qag.3	-	3	1210	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.R286H|ZNF320_uc002qai.3_Missense_Mutation_p.R340H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATGTGATTTGCGACTGAAAAC	0.428												
ZNF677	342926	broad.mit.edu	37	19	53741592	53741592	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53741592G>T	uc002qbg.1	-	4	539	c.388C>A	c.(388-390)Cac>Aac	p.H130N	ZNF677_uc002qbf.1_Missense_Mutation_p.H130N	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H130P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTTTTCTGTGAGTGAGATTT	0.353												
ABCB11	8647	broad.mit.edu	37	2	169783711	169783711	+	Silent	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:169783711A>T	uc002ueo.1	-	25	3699	c.3573T>A	c.(3571-3573)gcT>gcA	p.A1191A	ABCB11_uc010zda.1_Silent_p.A609A|ABCB11_uc010zdb.1_Silent_p.A667A	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1191	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCTGTTTTGCAGCTGCTATGA	0.453												
MFSD6	54842	broad.mit.edu	37	2	191301881	191301881	+	Missense_Mutation	SNP	G	G	T	rs147647208		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:191301881G>T	uc002urz.2	+	2	1450	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	376					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATCGTCTTCGGCGTTCTCAT	0.517												
DNPEP	23549	broad.mit.edu	37	2	220246112	220246112	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:220246112G>A	uc002vle.2	-	12	1330	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	DNPEP_uc002vli.2_Missense_Mutation_p.A342V|DNPEP_uc010zlg.2_Missense_Mutation_p.A403V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	385					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CTCTGACACCGCGTTTGAAGC	0.597												
AGXT	189	broad.mit.edu	37	2	241808652	241808652	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:241808652C>T	uc002waa.4	+	1	352	c.231C>T	c.(229-231)gtC>gtT	p.V77V	AGXT_uc010zoi.1_Silent_p.V77V	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	77					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.L76M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCACACTGGTCATCTCTGGCT	0.607												
TRPM2	7226	broad.mit.edu	37	21	45821664	45821664	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr21:45821664G>A	uc010gpt.1	+	15	2522	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	TRPM2_uc002zet.1_Missense_Mutation_p.A808T|TRPM2_uc002zeu.1_Missense_Mutation_p.A808T|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A808T|TRPM2_uc002zex.1_Missense_Mutation_p.A594T|TRPM2_uc002zey.1_Missense_Mutation_p.A321T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	808						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.F807F(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTTCGCCTTCCTCTG	0.632												
CABIN1	23523	broad.mit.edu	37	22	24483514	24483514	+	Missense_Mutation	SNP	G	G	A	rs148592192		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr22:24483514G>A	uc002zzi.1	+	22	3500	c.3373G>A	c.(3373-3375)Gtc>Atc	p.V1125I	CABIN1_uc021wnc.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzj.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzl.2_Missense_Mutation_p.V1125I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1125					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCACGCCCGTCTTGAACTG	0.577												
CNTN6	27255	broad.mit.edu	37	3	1415706	1415706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:1415706delG	uc003boz.3	+	15	2311	c.2044delG	c.(2044-2046)gggfs	p.G682fs	CNTN6_uc011asj.2_Frame_Shift_Del_p.G610fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.G682fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	682	Fibronectin type-III 1.				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)		CAACAGCATTGGGATTGGAGA	0.393												
SLC9C1	285335	broad.mit.edu	37	3	111918295	111918295	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:111918295G>A	uc003dyu.3	-	19	2618	c.2396C>T	c.(2395-2397)cCa>cTa	p.P799L	SLC9C1_uc011bhu.2_Missense_Mutation_p.P62L|SLC9C1_uc010hqc.3_Missense_Mutation_p.P751L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	799					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AGCAATTTCTGGGTGATCATA	0.279												
LRRC31	79782	broad.mit.edu	37	3	169557943	169557943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:169557943G>A	uc003fgc.1	-	8	1551	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	LRRC31_uc010hwp.1_Nonsense_Mutation_p.R440*	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	496										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCACAATCTCGAAAATTTGAT	0.453												
CPN2	1370	broad.mit.edu	37	3	194061799	194061799	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:194061799G>A	uc003fts.3	-	1	1723	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	CPN2_uc021xix.1_Missense_Mutation_p.P545S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	545					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCTACTAGGGCCCTGCTGCC	0.652												
ZNF732	654254	broad.mit.edu	37	4	265913	265913	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265913T>G	uc021xka.1	-	3	733	c.733A>C	c.(733-735)Act>Cct	p.T245P	ZNF732_uc011buu.1_Missense_Mutation_p.T213P	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTCTCTCCAGTATGAACTTTA	0.363												
ZNF732	654254	broad.mit.edu	37	4	265995	265995	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265995A>T	uc021xka.1	-	3	651	c.651T>A	c.(649-651)caT>caA	p.H217Q	ZNF732_uc011buu.1_Missense_Mutation_p.H185Q	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TCTCTCCAGTATGAATTATCT	0.348												
UGT2B4	7363	broad.mit.edu	37	4	70351001	70351001	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70351001G>A	uc003hek.4	-	4	1282	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	UGT2B4_uc011cap.2_Missense_Mutation_p.A276V|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	412					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAACTAACAGCTGCTCCCTT	0.423												
SULT1B1	27284	broad.mit.edu	37	4	70620981	70620981	+	Splice_Site	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70620981T>C	uc003hen.3	-	2	255	c.-43_splice	c.e2-1			NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACAGTTGTTCTGGAGAAATAT	0.328												
C4orf32	132720	broad.mit.edu	37	4	113107978	113107978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:113107978C>T	uc003iah.2	+	1	467	c.283C>T	c.(283-285)Cga>Tga	p.R95*	C4orf32_uc003iai.3_Non-coding_Transcript	NM_152400	NP_689613	Q8N8J7	CD032_HUMAN	Homo sapiens chromosome 4 open reading frame 32 (C4orf32), mRNA.	95						integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTTGGAGAACGAATAGTGGA	0.413												
CEP72	55722	broad.mit.edu	37	5	637858	637858	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:637858C>T	uc003jbf.3	+	6	1203	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	377					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AAAGCAGGAACGGGAGGACCT	0.622												
CDH18	1016	broad.mit.edu	37	5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:19721516C>T	uc003jgd.3	-	4	1117	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A195T(2)|p.S194R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463												
PCDHB16	57717	broad.mit.edu	37	5	140564331	140564331	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:140564331C>T	uc003liv.3	+	0	3352	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	733					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)			GGGCCCCTTTCCAGGGCGTCT	0.627												
HIST1H1C	3006	broad.mit.edu	37	6	26056384	26056385	+	Frame_Shift_Ins	INS	-	-	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:26056384_26056385insC	uc003nfw.3	-	0	315_316	c.272_273insG	c.(271-273)ggcfs	p.G91fs		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	91	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCACCAGAGTGCCCTTGCTCAC	0.545												
DDX39B	7919	broad.mit.edu	37	6	31504459	31504459	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:31504459A>C	uc003ntt.3	-	5	1091	c.433_splice	c.e5-1	p.V145_splice	DDX39B_uc003ntr.3_5'Flank|DDX39B_uc003ntu.3_Splice_Site_p.V145_splice|DDX39B_uc011dnn.2_Splice_Site_p.V67_splice|DDX39B_uc003ntv.3_Splice_Site_p.V145_splice|DDX39B_uc003ntw.2_Splice_Site_p.V145_splice|DDX39B_uc003ntx.2_Splice_Site_p.V145_splice|DDX39B_uc011dno.1_Splice_Site_p.V98_splice|DDX39B_uc011dnp.1_Splice_Site_p.V67_splice|SNORD117_uc003nty.1_5'Flank|DDX39B_uc011dnq.1_Splice_Site	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	145	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AAAAACAGCAACCTGCCGAGC	0.498												
GABRR2	2570	broad.mit.edu	37	6	89975454	89975454	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:89975454G>A	uc003pnb.2	-	6	850	c.842C>T	c.(841-843)aCg>aTg	p.T281M	GABRR2_uc011dzx.1_Missense_Mutation_p.T157M	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	281					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(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GCGACGCAACGTGAAGTTAAT	0.517												
ZBTB2	57621	broad.mit.edu	37	6	151687420	151687420	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:151687420G>A	uc003qoh.3	-	2	916	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTGAAGCGCCGTCCACACAGG	0.557												
EGFR	1956	broad.mit.edu	37	7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:55220295A>T	uc003tqk.3	+	5	931	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_uc003tqh.3_Missense_Mutation_p.S229C|EGFR_uc003tqi.3_Missense_Mutation_p.S229C|EGFR_uc003tqj.3_Missense_Mutation_p.S229C|EGFR_uc022adm.1_Missense_Mutation_p.S229C|EGFR_uc010kzg.2_Missense_Mutation_p.S184C|EGFR_uc022adn.1_Missense_Mutation_p.S184C|EGFR_uc011kco.2_Missense_Mutation_p.S176C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	229					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
MUC17	140453	broad.mit.edu	37	7	100677499	100677499	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:100677499G>A	uc003uxp.1	+	2	2855	c.2802G>A	c.(2800-2802)acG>acA	p.T934T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	934	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)					ACAGCACCACGCCGGTAGTCA	0.512												
OR2F1	26211	broad.mit.edu	37	7	143657328	143657328	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:143657328C>A	uc003wds.1	+	0	309	c.265C>A	c.(265-267)Cat>Aat	p.H89N		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCTTGCAGAACATAAAGCCAT	0.512												
EZH2	2146	broad.mit.edu	37	7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:148512600T>C	uc003wfd.2	-	12	1722	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_uc022aov.1_Missense_Mutation_p.K471R|EZH2_uc011kug.2_Missense_Mutation_p.K501R|EZH2_uc003wfb.2_Missense_Mutation_p.K515R|EZH2_uc003wfc.2_Missense_Mutation_p.K471R|EZH2_uc011kuh.2_Missense_Mutation_p.K501R	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	510					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R509G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL							
NCOA2	10499	broad.mit.edu	37	8	71068332	71068338	+	Frame_Shift_Del	DEL	ATCTTTA	ATCTTTA	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr8:71068332_71068338delATCTTTA	uc003xyn.1	-	10	2424_2430	c.2262_2268delTAAAGAT	c.(2260-2268)actaaagatfs	p.T754fs		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	754					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTAAACCAATATCTTTAGTATCATCTT	0.411			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""							
FAM75A6	389730	broad.mit.edu	37	9	43630642	43630642	+	Silent	SNP	G	G	A	rs2808959		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:43630642G>A	uc011lrb.2	-	0	89	c.60C>T	c.(58-60)agC>agT	p.S20S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	20						integral to membrane		p.S20S(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						ATGGTGTGGAGCTGGGGGCGT	0.473												
COL5A1	1289	broad.mit.edu	37	9	137676834	137676834	+	Splice_Site	SNP	G	G	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:137676834G>T	uc004cfe.3	+	30	2867	c.2485_splice	c.e30-1	p.G829_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	829	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGCTTGCAGGGGGAGATCG	0.632												
MAGEC1	9947	broad.mit.edu	37	X	140994696	140994696	+	Silent	SNP	T	T	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chrX:140994696T>A	uc004fbt.3	+	3	1830	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.T161T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	502							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)					CTGAGTGTACTCAAAGTACTT	0.498										HNSCC(15;0.026)		
