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
AGRN	375790	broad.mit.edu	37	1	985841	985841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:985841C>T	uc001ack.2	+	28	5061	c.5011C>T	c.(5011-5013)Cga>Tga	p.R1671*		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1671	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTTCCTGGCACGAGGCCCCAG	0.677												
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:12885289G>T	uc001auk.2	-	3	1018	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	274								p.L274L(6)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458												
ESPNP	284729	broad.mit.edu	37	1	17017717	17017717	+	Missense_Mutation	SNP	C	C	T	rs12561804	by1000genomes	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:17017717C>T	uc001azn.1	-	10	2011	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GCTCACCTCTCTTCTTCCAGC	0.622												
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	Missense_Mutation	SNP	C	C	T	rs12561805	by1000genomes	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:17017734C>T	uc001azn.1	-	10	1994	c.1880G>A	c.(1879-1881)cGg>cAg	p.R627Q						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCTTCTTCCGCAGGAGGTC	0.647												
MST1P9	11223	broad.mit.edu	37	1	17084269	17084269	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:17084269G>T	uc010ock.2	-	12	1748	c.1748C>A	c.(1747-1749)gCa>gAa	p.A583E	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.A183E					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.A583V(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCCCAGCCTGCAATCTCACA	0.582												
ARHGEF11	9826	broad.mit.edu	37	1	156917716	156917716	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:156917716G>A	uc001fqo.3	-	23	3106	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	ARHGEF11_uc010phu.2_Missense_Mutation_p.T105I|ARHGEF11_uc001fqn.3_Missense_Mutation_p.T729I	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	689					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGGTATCTGTGCAGAACCC	0.562												
OBSCN	84033	broad.mit.edu	37	1	228494214	228494214	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:228494214G>A	uc009xez.1	+	43	11845	c.11801G>A	c.(11800-11802)cGc>cAc	p.R3934H	OBSCN_uc001hsn.3_Missense_Mutation_p.R3934H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3934	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCAATGGGCGCCGGGAGCCA	0.652												
DIP2C	22982	broad.mit.edu	37	10	395316	395316	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:395316C>T	uc001ifp.3	-	24	3154	c.3064G>A	c.(3064-3066)Ggc>Agc	p.G1022S	DIP2C_uc009xhi.1_Missense_Mutation_p.G408S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1022						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGAAGGTGGCCCCTCTCCATC	0.652												
CALY	50632	broad.mit.edu	37	10	135142374	135142374	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:135142374C>T	uc001lmo.2	-	1	278	c.120G>A	c.(118-120)ccG>ccA	p.P40P	ZNF511_uc021qbf.1_Intron	NM_015722	NP_056537	Q9NYX4	CALY_HUMAN	Homo sapiens calcyon neuron-specific vesicular protein (CALY), mRNA.	40					clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)	CAGGGAGTGGCGGCTGGAGCT	0.637												
ANO9	338440	broad.mit.edu	37	11	419726	419726	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:419726G>T	uc001lpi.2	-	19	1875	c.1790C>A	c.(1789-1791)aCc>aAc	p.T597N	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.T290N|ANO9_uc010qvv.1_Missense_Mutation_p.T453N	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	597						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTGCAGCCAGGTCCCTGCACC	0.637												
CHRNA10	57053	broad.mit.edu	37	11	3688571	3688571	+	Silent	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:3688571G>A	uc001lyf.3	-	3	858	c.786C>T	c.(784-786)gcC>gcT	p.A262A	CHRNA10_uc010qxt.2_Silent_p.A56A|CHRNA10_uc010qxu.2_Silent_p.A56A	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	262					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CGCCTGAGTCGGCAGGCAGGT	0.706												
OR52E4	390081	broad.mit.edu	37	11	5906315	5906315	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:5906315T>A	uc010qzs.2	+	0	793	c.793T>A	c.(793-795)Ttt>Att	p.F265I	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACATCGTTTTGGCCAAAA	0.423												
OR5L1	219437	broad.mit.edu	37	11	55579782	55579782	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:55579782C>T	uc001nhw.1	+	0	840	c.840C>T	c.(838-840)gtC>gtT	p.V280V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	280					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)				TCTACACAGTCGTGATTCCTA	0.453												
PACS1	55690	broad.mit.edu	37	11	65977846	65977846	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:65977846T>C	uc001oha.2	+	2	592	c.458T>C	c.(457-459)aTt>aCt	p.I153T	PACS1_uc001ogz.1_Missense_Mutation_p.I153T	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	153					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAAAAAGAATTCTTCGCTCC	0.502												
KIAA1377	57562	broad.mit.edu	37	11	101818772	101818772	+	Silent	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:101818772A>G	uc001pgm.3	+	3	675	c.405A>G	c.(403-405)aaA>aaG	p.K135K	KIAA1377_uc001pgn.3_Silent_p.K91K|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	135							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTTCCCGAAAACCAGTTCCTC	0.343												
OR6M1	390261	broad.mit.edu	37	11	123676994	123676994	+	Nonsense_Mutation	SNP	G	G	A	rs150135307		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:123676994G>A	uc010rzz.2	-	0	64	c.64C>T	c.(64-66)Cga>Tga	p.R22*		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGAGATATTCGAATCTCCAGG	0.458												
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:57674205_57674207delTGC	uc009zpm.1	-	11	1271_1273	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576												
PPP1R12A	4659	broad.mit.edu	37	12	80191152	80191152	+	Silent	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:80191152T>C	uc001syz.3	-	15	2382	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	PPP1R12A_uc010suc.2_Silent_p.Q618Q|PPP1R12A_uc001sza.3_Silent_p.Q649Q|PPP1R12A_uc010sud.2_Silent_p.Q705Q|PPP1R12A_uc001szb.3_Silent_p.Q705Q|PPP1R12A_uc001szc.2_Silent_p.Q646Q	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	705	Interaction with ROCK2.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTCAGCTTCTTGAAGATCAG	0.318												
HCAR2	338442	broad.mit.edu	37	12	123187006	123187006	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:123187006C>T	uc001ucx.1	-	0	899	c.825G>A	c.(823-825)gcG>gcA	p.A275A	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	275					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	TGATAAAGAACGCCAGGTCCA	0.542												
CLEC14A	161198	broad.mit.edu	37	14	38724093	38724093	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724093T>A	uc001wum.1	-	0	1482	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	379						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAATTAAACTTGGAAATCACG	0.502												
CLEC14A	161198	broad.mit.edu	37	14	38724649	38724649	+	Silent	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724649G>A	uc001wum.1	-	0	926	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	193						integral to membrane	sugar binding	p.R193R(2)|p.R193C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAAGGGCGCGCGATAGCTCA	0.647												
NIN	51199	broad.mit.edu	37	14	51227078	51227078	+	Splice_Site	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:51227078C>G	uc001wyi.3	-	17	2088	c.1897_splice	c.e17-1	p.V633_splice	NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.V633_splice|NIN_uc001wyk.3_Splice_Site_p.V633_splice|NIN_uc001wyo.3_Splice_Site_p.V633_splice	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	633					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AATGGCGCACCTGAAGGCACA	0.453			T	PDGFRB	MPD							
SIX4	51804	broad.mit.edu	37	14	61180418	61180418	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:61180418G>C	uc001xfc.3	-	2	2113	c.2053C>G	c.(2053-2055)Ctt>Gtt	p.L685V		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	685						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATTTCCCCAAGGGCAGCCTGA	0.473												
YY1	7528	broad.mit.edu	37	14	100705804	100705804	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:100705804C>G	uc001ygy.1	+	0	703	c.223C>G	c.(223-225)Cat>Gat	p.H75D		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	75	Poly-His.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				ccaccaccaccatcaccacca	0.726												
BAHD1	22893	broad.mit.edu	37	15	40751318	40751318	+	Missense_Mutation	SNP	C	C	T	rs143744499		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:40751318C>T	uc001zlu.2	+	1	726	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	BAHD1_uc001zlt.2_Missense_Mutation_p.R219W|BAHD1_uc010bbp.1_Missense_Mutation_p.R219W|BAHD1_uc001zlv.2_Missense_Mutation_p.R219W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	219					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GAGCCAGGAGCGGGAGCTACC	0.642												
VPS13C	54832	broad.mit.edu	37	15	62300907	62300907	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:62300907C>T	uc002agz.3	-	13	1156	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	VPS13C_uc002aha.3_Silent_p.A312A|VPS13C_uc002ahb.2_Silent_p.A355A|VPS13C_uc002ahc.2_Silent_p.A312A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	355					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTATAAGGCGCATTCCTAA	0.289												
THSD4	79875	broad.mit.edu	37	15	72037463	72037463	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:72037463T>C	uc002atb.1	+	10	2004	c.1925T>C	c.(1924-1926)tTc>tCc	p.F642S	THSD4_uc002ate.2_Missense_Mutation_p.F282S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	642						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACCCTATTTTCCGCTGTGTG	0.547												
LRRK1	79705	broad.mit.edu	37	15	101569415	101569415	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:101569415G>A	uc002bwr.3	+	19	3260	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	981					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)			GTTTGAGATCGCCCTGCCCGT	0.592												
DNM1P47	100216544	broad.mit.edu	37	15	102292762	102292762	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:102292762C>T	uc010usj.2	+	3	409	c.350C>T	c.(349-351)gCg>gTg	p.A117V	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		GCAGGCACAGCGGCGCGACGA	0.602												
SRL	6345	broad.mit.edu	37	16	4245578	4245578	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:4245578C>T	uc002cvz.4	-	4	599	c.586G>A	c.(586-588)Gag>Aag	p.E196K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	655	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.I195I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTGCGGTTCTCGATGATGCCT	0.443												
CETP	1071	broad.mit.edu	37	16	57016107	57016107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:57016107C>T	uc002eki.2	+	13	1336	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	CETP_uc002ekj.2_Nonsense_Mutation_p.Q367*	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	427					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GAGCTTCCTGCAGTCAATGAT	0.582												
GALNS	2588	broad.mit.edu	37	16	88891241	88891241	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:88891241C>T	uc010cid.3	-	11	1435	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	GALNS_uc002fly.4_Silent_p.A392A|GALNS_uc002flz.4_Silent_p.A75A			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	392			H -> D (in MPS4A).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CGAGGGTGGCCGCCATCAGCG	0.627												
DNAH2	146754	broad.mit.edu	37	17	7644166	7644166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:7644166delC	uc002giu.1	+	9	1559	c.1545delC	c.(1543-1545)ctcfs	p.L515fs	DNAH2_uc002git.3_Frame_Shift_Del_p.L597fs|DNAH2_uc010vuk.2_Frame_Shift_Del_p.L515fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	515	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGTGGATCTCTACATGCTGT	0.587												
KRT16P2	400578	broad.mit.edu	37	17	16734509	16734509	+	Silent	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:16734509G>T	uc010vwr.1	-	3	952	c.510C>A	c.(508-510)cgC>cgA	p.R170R						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		CGTACTGGTTGCGCATCTCAT	0.607												
CRLF3	51379	broad.mit.edu	37	17	29119557	29119557	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:29119557C>G	uc002hfr.4	-	5	969	c.860G>C	c.(859-861)aGc>aCc	p.S287T	CRLF3_uc010wbr.2_Missense_Mutation_p.S171T	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	287					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCTTCGACTGCTCAGACTGTA	0.423												
TMEM106A	113277	broad.mit.edu	37	17	41365143	41365143	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:41365143G>A	uc002idn.1	+	2	320	c.83G>A	c.(82-84)aGc>aAc	p.S28N	TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Missense_Mutation_p.S28N|TMEM106A_uc010whz.1_Missense_Mutation_p.S28N	NM_145041	NP_659478	Q96A25	T106A_HUMAN	Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.	28						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCATTGGCAGCAAGGCTGTC	0.547												
CSH2	1443	broad.mit.edu	37	17	61949661	61949661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:61949661C>T	uc002jch.3	-	4	594	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.R65Q	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CTGCCCAGTCCGGCGGCTGCC	0.547												
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr18:9887074G>A	uc002koi.4	+	1	1047	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_uc002koh.4_Missense_Mutation_p.E133K|TXNDC2_uc021ugx.1_Missense_Mutation_p.E133K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577												
PDE4A	5141	broad.mit.edu	37	19	10561526	10561526	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:10561526delC	uc002moj.2	+	5	800	c.692delC	c.(691-693)gccfs	p.A231fs	PDE4A_uc021uow.1_Frame_Shift_Del_p.A209fs|PDE4A_uc002mok.2_Frame_Shift_Del_p.A205fs|PDE4A_uc002mol.2_Frame_Shift_Del_p.A170fs|PDE4A_uc002mom.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	231					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGCAGTTGGCCCGGGAGACT	0.612												
FAM129C	199786	broad.mit.edu	37	19	17653014	17653014	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:17653014A>G	uc021uqj.1	+	10	1471	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	FAM129C_uc021uqi.1_Missense_Mutation_p.S445G|FAM129C_uc002ngy.4_Missense_Mutation_p.S171G|FAM129C_uc010xpu.2_Missense_Mutation_p.S171G|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.S171G|FAM129C_uc002nhb.3_Missense_Mutation_p.S44G	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	445										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCCGAGCGGAGCCGGGGGCG	0.612												
ZNF208	7757	broad.mit.edu	37	19	22155056	22155056	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:22155056C>T	uc021urr.1	-	3	2929	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGACAACCAGCTGAAGGCTTT	0.393												
ZNF180	7733	broad.mit.edu	37	19	44981361	44981361	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:44981361A>C	uc002ozf.4	-	4	1619	c.1337T>G	c.(1336-1338)tTc>tGc	p.F446C	ZNF180_uc002ozh.4_Missense_Mutation_p.F103C|ZNF180_uc002ozi.4_Missense_Mutation_p.F419C|ZNF180_uc002ozg.4_Missense_Mutation_p.F445C|ZNF180_uc010ejm.3_Missense_Mutation_p.F421C	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTCTGCCTGAATGACTTTCC	0.393												
SH3RF3	344558	broad.mit.edu	37	2	110015136	110015136	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:110015136G>A	uc010ywt.1	+	3	1036	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	346							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTCTGACTCCGGCGCTGTGGC	0.602												
TMEM163	81615	broad.mit.edu	37	2	135470799	135470799	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:135470799A>G	uc002ttx.3	-	1	359	c.293T>C	c.(292-294)gTc>gCc	p.V98A	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	98						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GGCCAGGGTGACAATGATGGA	0.517												
TMC2	117532	broad.mit.edu	37	20	2616589	2616589	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:2616589T>A	uc002wgf.1	+	17	2339	c.2324T>A	c.(2323-2325)cTg>cAg	p.L775Q	TMC2_uc002wgg.1_Missense_Mutation_p.L759Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	775						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTACTACCTGAACTCAGTT	0.502												
PLTP	5360	broad.mit.edu	37	20	44528299	44528299	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:44528299T>C	uc002xqm.2	-	12	1839	c.1304A>G	c.(1303-1305)aAg>aGg	p.K435R	PLTP_uc002xql.2_Missense_Mutation_p.K327R|PLTP_uc010zxj.2_Missense_Mutation_p.K320R|PLTP_uc002xqq.2_Missense_Mutation_p.K384R|PLTP_uc002xqn.2_Missense_Mutation_p.K415R|PLTP_uc002xqo.2_Missense_Mutation_p.K363R	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	415					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CAGCATGGTCTTCAGAGGGGC	0.602												
ZGPAT	84619	broad.mit.edu	37	20	62367145	62367145	+	Silent	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:62367145G>A	uc002ygk.3	+	6	1659	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	ZGPAT_uc002ygi.2_Silent_p.A470A|ZGPAT_uc010gkk.2_Silent_p.A47A|ZGPAT_uc010gkl.2_Silent_p.A470A|ZGPAT_uc002ygm.3_Silent_p.A461A|ZGPAT_uc002ygj.2_Silent_p.A470A|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'UTR|ZGPAT_uc002ygp.4_5'UTR	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	490					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ATAGCGTGGCGTCAGCCCAGC	0.692												
C21orf128	150147	broad.mit.edu	37	21	43523936	43523936	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43523936G>C	uc002zak.2	-	1	449	c.297C>G	c.(295-297)ttC>ttG	p.F99L	UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zaf.1_Intron|UMODL1_uc002zag.1_Intron|UMODL1_uc010gow.1_Intron|UMODL1_uc002zai.1_Intron|UMODL1_uc010gox.1_Intron|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Intron|UMODL1_uc010goz.1_Intron					Homo sapiens chromosome 21 open reading frame 128 (C21orf128), non-coding RNA.											lung(4)	4						TAATGGTCGTGAAGACGTTGA	0.532												
UMODL1	89766	broad.mit.edu	37	21	43524008	43524008	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524008G>C	uc002zag.1	+	8	1330	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H	UMODL1_uc002zad.1_Missense_Mutation_p.D372H|UMODL1_uc002zae.1_Missense_Mutation_p.D372H|UMODL1_uc002zaf.1_Missense_Mutation_p.D444H|UMODL1_uc010gow.1_Missense_Mutation_p.D236H|UMODL1_uc002zai.1_Missense_Mutation_p.D95H|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.D95H|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.D189H|C21orf128_uc002zak.2_Silent_p.V75V	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	444	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGGTGTCTGACTTGTACCG	0.567												
UMODL1	89766	broad.mit.edu	37	21	43524114	43524114	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524114G>C	uc002zag.1	+	8	1436	c.1436G>C	c.(1435-1437)gGc>gCc	p.G479A	UMODL1_uc002zad.1_Missense_Mutation_p.G407A|UMODL1_uc002zae.1_Missense_Mutation_p.G407A|UMODL1_uc002zaf.1_Missense_Mutation_p.G479A|UMODL1_uc010gow.1_Missense_Mutation_p.G271A|UMODL1_uc002zai.1_Missense_Mutation_p.G130A|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.G130A|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.G224A|C21orf128_uc002zak.2_Missense_Mutation_p.A40G	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	479	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCCCATGGGCATCTCCACG	0.622												
TRPM2	7226	broad.mit.edu	37	21	45817635	45817635	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:45817635G>C	uc010gpt.1	+	12	2038	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	TRPM2_uc002zet.1_Missense_Mutation_p.Q646H|TRPM2_uc002zeu.1_Missense_Mutation_p.Q646H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.Q646H|TRPM2_uc002zex.1_Missense_Mutation_p.Q432H|TRPM2_uc002zey.1_Missense_Mutation_p.Q159H	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	646						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.S645R(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						CCCAGAGCCAGGACTGCATCG	0.627												
PROS1	5627	broad.mit.edu	37	3	93646100	93646100	+	Silent	SNP	C	C	T	rs6121	by1000genomes	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:93646100C>T	uc003drb.4	-	1	569	c.228G>A	c.(226-228)ccG>ccA	p.P76P	PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	76	Gla.		P -> L.		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTACCGTTTCCGGGTCATTTT	0.388												
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:169896635_169896637delTGG	uc003fgl.2	-	1	138_140	c.104_106delCCA	c.(103-108)accatc>atc	p.T35del	PHC3_uc010hws.1_In_Frame_Del_p.T23del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_Non-coding_Transcript	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	23					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493												
TNIK	23043	broad.mit.edu	37	3	170819385	170819385	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:170819385C>T	uc003fhh.2	-	21	2789	c.2444G>A	c.(2443-2445)cGg>cAg	p.R815Q	TNIK_uc003fhi.2_Missense_Mutation_p.R760Q|TNIK_uc003fhj.2_Missense_Mutation_p.R786Q|TNIK_uc003fhk.2_Missense_Mutation_p.R807Q|TNIK_uc003fhl.2_Missense_Mutation_p.R731Q|TNIK_uc003fhm.2_Missense_Mutation_p.R752Q|TNIK_uc003fhn.2_Missense_Mutation_p.R778Q|TNIK_uc003fho.2_Missense_Mutation_p.R723Q|TNIK_uc003fhg.2_5'UTR	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	815	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTTCAATCCGGAGTTCTCT	0.453												
LGI2	55203	broad.mit.edu	37	4	25032262	25032264	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:25032262_25032264delCAG	uc003grf.2	-	0	151_153	c.52_54delCTG	c.(52-54)ctgdel	p.L18del		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	18						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACGCGGCGCCCAGCAGCAGCAGC	0.764												
ARAP2	116984	broad.mit.edu	37	4	36085016	36085016	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:36085016C>T	uc003gsq.2	-	28	4820	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1494	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCTTTTTCACTCCACGAT	0.313												
FRAS1	80144	broad.mit.edu	37	4	79204019	79204019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:79204019C>T	uc003hlb.2	+	11	1593	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	FRAS1_uc003hkw.3_Nonsense_Mutation_p.R385*|FRAS1_uc003hky.1_Nonsense_Mutation_p.R89*|FRAS1_uc003hkz.3_Nonsense_Mutation_p.R89*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	385	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R385R(1)		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						GTGTGAGTGCCGAGGGGCTCA	0.537												
HPGD	3248	broad.mit.edu	37	4	175439163	175439163	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:175439163T>A	uc003itu.2	-	2	473	c.283A>T	c.(283-285)Aat>Tat	p.N95Y	HPGD_uc003itv.2_Missense_Mutation_p.N95Y|HPGD_uc011ckf.1_Intron|HPGD_uc010irq.2_Missense_Mutation_p.N95Y|HPGD_uc011ckg.1_Intron|HPGD_uc011ckh.1_5'UTR	NM_000860	NP_000851	P15428	PGDH_HUMAN	Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA.	95					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TTCTCATTATTCACTCCAGCA	0.279												
PLCXD3	345557	broad.mit.edu	37	5	41382349	41382349	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr5:41382349A>G	uc003jmm.1	-	1	493	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	131	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGTGAGGAATGCATTGATC	0.433												
ATXN1	6310	broad.mit.edu	37	6	16327903	16327903	+	Missense_Mutation	SNP	C	C	A	rs3817753		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:16327903C>A	uc003nbt.3	-	7	1610	c.639G>T	c.(637-639)caG>caT	p.Q213H	ATXN1_uc010jpi.3_Missense_Mutation_p.Q213H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	213	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgatgct	0.667												
RSPO3	84870	broad.mit.edu	37	6	127469958	127469958	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:127469958G>A	uc003qas.1	+	1	553	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	RSPO3_uc003qar.3_Missense_Mutation_p.R88Q	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	88						extracellular region	heparin binding	p.R88*(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TATGGAACTCGATATCCAGAT	0.363												
ZBTB2	57621	broad.mit.edu	37	6	151687542	151687542	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:151687542G>T	uc003qoh.3	-	2	794	c.659C>A	c.(658-660)aCc>aAc	p.T220N		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	220					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)		TTCCAGATTGGTCTCCTCCCC	0.552												
MACC1	346389	broad.mit.edu	37	7	20180649	20180649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:20180649C>A	uc003sus.4	-	6	2788	c.2479G>T	c.(2479-2481)Gaa>Taa	p.E827*	MACC1_uc010kug.3_Nonsense_Mutation_p.E827*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	827					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGTTAATTCTCTCCAGTGT	0.383												
EGFR	1956	broad.mit.edu	37	7	55221763	55221763	+	Silent	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:55221763C>G	uc003tqk.3	+	6	1053	c.807C>G	c.(805-807)ctC>ctG	p.L269L	EGFR_uc003tqh.3_Silent_p.L269L|EGFR_uc003tqi.3_Silent_p.L269L|EGFR_uc003tqj.3_Silent_p.L269L|EGFR_uc022adm.1_Silent_p.L269L|EGFR_uc010kzg.2_Silent_p.L224L|EGFR_uc022adn.1_Silent_p.L224L|EGFR_uc011kco.2_Silent_p.L216L|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	269					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)	CACTCATGCTCTACAACCCCA	0.577		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EPHA1	2041	broad.mit.edu	37	7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:143097029C>T	uc003wcz.3	-	3	637	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	184						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617												
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr8:128750605_128750607delCAG	uc022bbe.1	+	1	667_669	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_uc003ysh.1_In_Frame_Del_p.Q37del|MYC_uc003ysi.3_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	37	Poly-Gln.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BNC2	54796	broad.mit.edu	37	9	16437497	16437497	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:16437497C>T	uc003zml.3	-	5	835	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BNC2_uc011lmw.2_Missense_Mutation_p.R137H|BNC2_uc003zmm.3_Missense_Mutation_p.R190H|BNC2_uc003zmq.1_Missense_Mutation_p.R246H|BNC2_uc003zmr.1_Missense_Mutation_p.R269H|BNC2_uc003zmp.1_Missense_Mutation_p.R260H|BNC2_uc010mij.1_Missense_Mutation_p.R154H|BNC2_uc011lmv.2_Missense_Mutation_p.R58H|BNC2_uc003zmo.1_Missense_Mutation_p.R154H|BNC2_uc003zmj.3_5'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_5'UTR|BNC2_uc003zmn.1_5'UTR	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATGGCCCAGCGGTCCAGCAC	0.448												
NOL8	55035	broad.mit.edu	37	9	95078415	95078415	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:95078415G>C	uc022bjx.1	-	6	829	c.492C>G	c.(490-492)atC>atG	p.I164M	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.I96M	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	164					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GATCATATTTGATGATGTTAC	0.358												
KIAA0368	23392	broad.mit.edu	37	9	114145511	114145511	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:114145511C>T	uc004bfe.1	-	35	4317	c.4317G>A	c.(4315-4317)gtG>gtA	p.V1439V		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GAACTTCCGTCACGGTGCTCA	0.483												
PHEX	5251	broad.mit.edu	37	X	22132590	22132590	+	Silent	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:22132590C>G	uc004dah.3	+	10	1391	c.1188C>G	c.(1186-1188)acC>acG	p.T396T	PHEX_uc011mjr.2_Silent_p.T396T|PHEX_uc011mjs.2_Silent_p.T299T	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	396					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCCAGGGGACCACAACTTTGC	0.398												
DCAF8L1	139425	broad.mit.edu	37	X	27999308	27999308	+	Silent	SNP	G	G	A	rs147579544	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:27999308G>A	uc004dbx.1	-	0	259	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	48										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CACCATCTCCGGTCGATGGCT	0.532												
MAGEB16	139604	broad.mit.edu	37	X	35821053	35821053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:35821053G>A	uc010ngt.1	+	1	1019	c.740G>A	c.(739-741)aGa>aAa	p.R247K	MAGEB16_uc022bus.1_Missense_Mutation_p.R247K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	247	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						GGAGAGCCCAGAATGCTCATC	0.493												
GPR82	27197	broad.mit.edu	37	X	41587247	41587247	+	Missense_Mutation	SNP	T	T	G	rs144887525		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:41587247T>G	uc022bvd.1	+	0	968	c.968T>G	c.(967-969)cTc>cGc	p.L323R	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Missense_Mutation_p.L323R	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	323						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTATATAATCTCTTTACAAAG	0.333												
MAGIX	79917	broad.mit.edu	37	X	49021421	49021421	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:49021421G>A	uc010nin.1	+	3	547	c.500G>A	c.(499-501)cGt>cAt	p.R167H	MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.R108H|MAGIX_uc004dmw.2_Missense_Mutation_p.R100H	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	167	PDZ.																CGCTGTGGTCGTTTGGAGGTG	0.622