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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PIP4K2A	5305	broad.mit.edu	37	10	22880653	22880653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:22880653G>A	uc001irl.4	-	3	645	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	PIP4K2A_uc010qcu.2_5'UTR	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	133	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	p.R133H(12)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GTGTGAAAACGAGCTCCACTG	0.532000														9			27		0	0	0.000720815	0	0
TTN	7273	broad.mit.edu	37	2	179430378	179430378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:179430378C>T	uc021vsy.1	-	274	73002	c.72777G>A	c.(72775-72777)tgG>tgA	p.W24259*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W17954*|TTN_uc021vta.1_Nonsense_Mutation_p.W17887*|TTN_uc021vtb.1_Nonsense_Mutation_p.W17762*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25186	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACAATGCTCCATTTTTCAG	0.443000														7			32		0	0	0.000409698	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912113	101912113	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:101912113T>C	uc010nod.3	+	2	3914	c.3272T>C	c.(3271-3273)cTt>cCt	p.L1091P	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.L1091P|GPRASP1_uc004ejj.4_Missense_Mutation_p.L1091P|GPRASP1_uc004eji.4_Missense_Mutation_p.L1091P|GPRASP1_uc022cbd.1_Missense_Mutation_p.L1091P	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1091	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AACATGGTACTTAGCCCAGAA	0.483000														181			110		0	0	0.000781405	0	0
FUT5	2527	broad.mit.edu	37	19	5867302	5867302	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:5867302C>T	uc002mdo.4	-	1	606	c.435G>A	c.(433-435)tgG>tgA	p.W145*	FUT5_uc010duo.3_Nonsense_Mutation_p.W145*|FUT5_uc021uno.1_Nonsense_Mutation_p.W145*	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	145					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGAACCAGATCCAGCGCTGCC	0.622000														17			23		0	0	0.000586117	0	0
FAM83B	222584	broad.mit.edu	37	6	54735239	54735239	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:54735239G>A	uc003pck.3	+	1	311	c.195G>A	c.(193-195)ttG>ttA	p.L65L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	65										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATTATATTTTGAAAAATGTCC	0.393000														31			15		0	0	0.000219431	0	0
GABRA4	2557	broad.mit.edu	37	4	46976321	46976321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:46976321C>T	uc003gxg.3	-	5	1632	c.649G>A	c.(649-651)Gag>Aag	p.E217K	GABRA4_uc021xnz.1_Missense_Mutation_p.E198K|GABRA4_uc021xoa.1_Missense_Mutation_p.E198K	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGGAAGACTCCTTCGGAACT	0.403000														0			5		0	0	0.000602214	0	0
ZFP42	132625	broad.mit.edu	37	4	188924639	188924639	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:188924639C>T	uc003izh.1	+	3	1086	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZFP42_uc003izi.1_Silent_p.F226F|ZFP42_uc021xvm.1_Silent_p.F226F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	226					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAAGCGTTCGTTGAGAGCT	0.507000														63			25		0	0	0.00106085	0	0
NELL1	4745	broad.mit.edu	37	11	20968909	20968909	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:20968909A>T	uc009yid.3	+	11	1336	c.1183A>T	c.(1183-1185)Atg>Ttg	p.M395L	NELL1_uc010rdp.2_Missense_Mutation_p.M127L|NELL1_uc001mqe.3_Missense_Mutation_p.M367L|NELL1_uc001mqf.3_Missense_Mutation_p.M367L|NELL1_uc010rdo.2_Missense_Mutation_p.M310L	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	367	EGF-like 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATTACAGAAATGTGTCCTCC	0.408000														47			20		0	0	0.00121646	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000														75			44		0	0	0.000781405	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421366	134421366	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:134421366G>A	uc022ceq.1	-	5	1626	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Silent_p.F317F	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	412					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GATGGGTCATGAAGTGCTTAT	0.378000														60			36		0	0	0.000437636	0	0
PKD1L2	114780	broad.mit.edu	37	16	81171071	81171071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:81171071G>A	uc002fgh.1	-	33	5687	c.5687C>T	c.(5686-5688)gCc>gTc	p.A1896V	PKD1L2_uc002fgf.1_5'Flank|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1897					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGCAGCGGGGCCACAGTATC	0.602000														5			5		0	0	0.00116845	0	0
PCNT	5116	broad.mit.edu	37	21	47810612	47810612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:47810612C>T	uc002zji.4	+	19	3975	c.3868C>T	c.(3868-3870)Cgt>Tgt	p.R1290C	PCNT_uc002zjj.3_Missense_Mutation_p.R1172C	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1290					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AATTCATTCTCGTTTTGAAAA	0.413000														42			16		0	0	0.000422831	0	0
GRIN2A	2903	broad.mit.edu	37	16	9928072	9928072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:9928072G>A	uc010uym.2	-	8	1977	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	GRIN2A_uc002czo.4_Missense_Mutation_p.S556F|GRIN2A_uc010uyn.2_Missense_Mutation_p.S399F|GRIN2A_uc002czr.4_Missense_Mutation_p.S556F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	556					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S556Y(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCCAGACAGAGGCGCTGAA	0.438000														13			10		0	0	0.000442599	0	0
ANK2	287	broad.mit.edu	37	4	114280158	114280158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:114280158G>A	uc003ibe.4	+	37	10484	c.10384G>A	c.(10384-10386)Gaa>Aaa	p.E3462K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E3477K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3429					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCCACAAAAGAAAGTAAGGA	0.453000														2			6		0	0	0.00116845	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635000	122635000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:122635000G>A	uc003vkl.1	-	0	755	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	230					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.A230A(2)|p.L229I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAATAAGACGGCAAGGGACCT	0.433000														11			21		0	0	0.00188189	0	0
TTC39C	125488	broad.mit.edu	37	18	21712461	21712461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:21712461G>A	uc002kuw.3	+	13	2127	c.1675G>A	c.(1675-1677)Ggc>Agc	p.G559S	TTC39C_uc002kuu.3_Missense_Mutation_p.G498S	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	559							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GGATTTCTCTGGCTACGACTT	0.463000														12			19		0	0	0.00188189	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718335	142718335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:142718335C>T	uc022cfm.1	-	0	590	c.590G>A	c.(589-591)gGg>gAg	p.G197E	SLITRK4_uc022cfl.1_Missense_Mutation_p.G197E|SLITRK4_uc004fbx.3_Missense_Mutation_p.G197E|SLITRK4_uc004fby.3_Missense_Mutation_p.G197E	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	197						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAACCCCGATATAAGG	0.438000														68			51		0	0	0.000781405	0	0
TNXB	7148	broad.mit.edu	37	6	32029196	32029197	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:32029196_32029197CG>AT	uc003nzl.2	-	20	7671_7672	c.7469_7470CG>AT	c.(7468-7470)ccg>cAT	p.P2490H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2550	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGTGGACACCGGGCCCACGCG	0.639000														468			8		0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					14			27		0	0	0.00178596	0	0
KLHDC10	23008	broad.mit.edu	37	7	129736814	129736814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:129736814C>T	uc003vpj.2	+	1	355	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	KLHDC10_uc003vpk.2_Intron|KLHDC10_uc010lmb.2_Intron	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	74										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TCAGTCCTGTCCCATCATAAG	0.408000														93			24		0	0	0.00127121	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709694	128709694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:128709694C>T	uc001qeo.1	-	1	553	c.502G>A	c.(502-504)Gtt>Att	p.V168I	KCNJ1_uc001qep.1_Missense_Mutation_p.V149I|KCNJ1_uc001qeq.1_Missense_Mutation_p.V149I|KCNJ1_uc001qer.1_Missense_Mutation_p.V149I|KCNJ1_uc001qes.1_Missense_Mutation_p.V149I|KCNJ1_uc021qsb.1_Missense_Mutation_p.V149I	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	168					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TTGATTATAACTCCAAGTATA	0.443000														25			27		0	0	0.000720815	0	0
BRCA2	675	broad.mit.edu	37	13	32907491	32907491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:32907491G>A	uc001uub.1	+	9	2103	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	BRCA2_uc001uua.1_Missense_Mutation_p.E503K	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	626					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATGCTTTTGAAGCACCACT	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				42			11		0	0	0.000308642	0	0
DCC	1630	broad.mit.edu	37	18	50918177	50918177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:50918177C>T	uc002lfe.2	+	16	3224	c.2608C>T	c.(2608-2610)Cct>Tct	p.P870S	DCC_uc010xdr.1_Missense_Mutation_p.P698S|DCC_uc010dpf.2_Missense_Mutation_p.P505S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	870	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAACTCTGTCCCTAAGAACCA	0.522000														16			36		0	0	0.000692331	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116632	36116632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:36116632G>A	uc003jkb.1	-	10	1781	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	456						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAATACACGAATCCTGAAC	0.348000														39			15		0	0	0.000566183	0	0
KIAA1598	57698	broad.mit.edu	37	10	118711438	118711438	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:118711438G>A	uc021pzk.1	-	5	1014	c.516C>T	c.(514-516)ctC>ctT	p.L172L	KIAA1598_uc009xyw.3_Silent_p.L172L|KIAA1598_uc001lcz.4_Silent_p.L172L|KIAA1598_uc010qso.2_Silent_p.L112L|KIAA1598_uc010qsp.1_Silent_p.L172L|KIAA1598_uc010qsq.1_Silent_p.L112L|KIAA1598_uc001lcy.4_Silent_p.L142L	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	172					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTACTTCTACGAGTTTGCTCT	0.348000														6			16		0	0	0.000566183	0	0
CRHR1	1394	broad.mit.edu	37	17	43884400	43884400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:43884400C>T	uc010dap.3	+	1	323	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_5'UTR|CRHR1_uc002ijm.3_Missense_Mutation_p.P20S|CRHR1_uc002ijn.3_Missense_Mutation_p.P20S|CRHR1_uc010dar.3_Missense_Mutation_p.P20S|CRHR1_uc010dao.3_5'UTR|CRHR1_uc010daq.3_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	20					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGGCTGAACCCCGTCTCTGC	0.607000														18			20		0	0	0.000586117	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110397839	110397839	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:110397839G>A	uc003yne.3	+	5	653	c.549G>A	c.(547-549)ggG>ggA	p.G183G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	183	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTCAAATGGGAAAAATGTTA	0.299000										HNSCC(38;0.096)				22			16		0	0	0.00074312	0	0
SYNE1	23345	broad.mit.edu	37	6	152826510	152826510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:152826510C>T	uc021zhb.1	-	6	827	c.604G>A	c.(604-606)Gat>Aat	p.D202N	SYNE1_uc003qot.4_Missense_Mutation_p.D209N|SYNE1_uc003qou.4_Missense_Mutation_p.D202N|SYNE1_uc010kjb.1_Missense_Mutation_p.D202N|SYNE1_uc003qpa.1_Missense_Mutation_p.D202N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	202	Actin-binding.|CH 2.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCCAAAATCTTTTACTTCT	0.403000										HNSCC(10;0.0054)				9			7		0	0	8.12818e-05	0	0
PLAA	9373	broad.mit.edu	37	9	26925929	26925929	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:26925929G>A	uc003zqd.3	-	5	1188	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	PLAA_uc003zqe.2_Silent_p.L255L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	255					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CAGATTCTCAGAGATCTGTCC	0.383000														7			21		0	0	0.000375601	0	0
MXRA5	25878	broad.mit.edu	37	X	3227976	3227976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:3227976C>T	uc004crg.4	-	6	8425	c.8268G>A	c.(8266-8268)atG>atA	p.M2756I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2756	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCATAGCCATGCAGTTCA	0.567000														78			51		0	0	0.000781405	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188326	72188326	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:72188326C>T	uc002fcc.4	-	3	370	c.198G>A	c.(196-198)gaG>gaA	p.E66E	PMFBP1_uc002fcd.3_Silent_p.E66E|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	66										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTCTGACTCCTCGAATGCTA	0.423000														29			18		0	0	0.00074312	0	0
OR5L2	26338	broad.mit.edu	37	11	55595541	55595541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:55595541C>T	uc001nhy.1	+	0	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P283P(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGTTGTGATTCCCATGCTGAA	0.453000										HNSCC(27;0.073)				8			8		0	0	0.000157383	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718410	46718410	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:46718410C>T	uc003cqa.2	-	16	2053	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	ALS2CL_uc003cpx.2_5'UTR|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.E135E|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.E620E	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	620					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAGCAGGGCCTCCTGCAGGT	0.657000														41			40		0	0	0.00148497	0	0
MGAM	8972	broad.mit.edu	37	7	141754560	141754560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:141754560G>A	uc003vwy.3	+	26	3220	c.3166G>A	c.(3166-3168)Gat>Aat	p.D1056N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1056					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTAGATTTATGATCCCAACAA	0.418000														26			73		0	0	0.000781405	0	0
ZNF275	10838	broad.mit.edu	37	X	152612965	152612965	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:152612965C>T	uc011myn.2	+	1	1535	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ZNF275_uc004fhg.2_Silent_p.F274F|ZNF275_uc022cht.1_Silent_p.F211F|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	274						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGTCCTTCCGAGGGGTCA	0.652000														26			19		0	0	0.00188189	0	0
FAT4	79633	broad.mit.edu	37	4	126240396	126240396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:126240396G>A	uc003ifj.4	+	0	2830	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	944	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCTATCAATGAAAAGAATGG	0.483000														24			40		0	0	0.00111076	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717103	142717103	+	Silent	SNP	G	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:142717103G>T	uc022cfm.1	-	0	1822	c.1822C>A	c.(1822-1824)Cga>Aga	p.R608R	SLITRK4_uc022cfl.1_Silent_p.R608R|SLITRK4_uc004fbx.3_Silent_p.R608R|SLITRK4_uc004fby.3_Silent_p.R608R	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	608						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACTTCGAATGGGACCC	0.423000														71			42		1.62957e-23	1.07025e-22	0.00195071	1	0
MEFV	4210	broad.mit.edu	37	16	3297184	3297184	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:3297184C>T	uc002cun.1	-	4	1459	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	MEFV_uc021tbw.1_Silent_p.L262L|MEFV_uc021tbx.1_Silent_p.L53L|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Silent_p.L53L	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	473					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTTGCTGCTCCAGGAAGTAGT	0.577000														59			40		0	0	0.000781405	0	0
OR8D4	338662	broad.mit.edu	37	11	123777295	123777295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:123777295C>T	uc010saa.2	+	0	157	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TAGGCTGAATCGTCAACTTCA	0.408000														28			9		0	0	0.000274275	0	0
ADH1B	125	broad.mit.edu	37	4	100234992	100234992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:100234992G>A	uc003hus.4	-	5	898	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	ADH1B_uc003hut.4_Missense_Mutation_p.R232W|ADH1B_uc011ceh.2_Missense_Mutation_p.R117W|ADH1B_uc011cei.1_Missense_Mutation_p.R232W	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	272					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTGTCAAGCCGACCGATGACT	0.423000														99			35		0	0	0.00195071	0	0
MYO1C	4641	broad.mit.edu	37	17	1384095	1384095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:1384095G>A	uc002fsp.3	-	5	932	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	MYO1C_uc002fsn.3_Missense_Mutation_p.H219Y|MYO1C_uc002fso.3_Missense_Mutation_p.H203Y|MYO1C_uc010vqj.1_Missense_Mutation_p.H203Y|MYO1C_uc010vqk.1_Missense_Mutation_p.H214Y	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	238	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TAGAAGATGTGGAAGTTCCGC	0.612000														47			40		0	0	0.00148497	0	0
TDRD1	56165	broad.mit.edu	37	10	115971703	115971703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:115971703G>A	uc001lbg.1	+	13	1892	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E	TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Missense_Mutation_p.G571E|TDRD1_uc001lbi.1_Missense_Mutation_p.G571E|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.G289E	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	580	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTAGATTATGGAAACTTTGAA	0.403000														5			15		0	0	0.000219431	0	0
DDX11L9	100288486	broad.mit.edu	37	1	13418	13418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:13418G>A	uc010nxq.1	+	2	497	c.181G>A	c.(181-183)Gag>Aag	p.E61K	DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 9;																		CCACCACCCCGAGATCACATT	0.562000														35			10		0	0	0.00185496	0	0
LINGO4	339398	broad.mit.edu	37	1	151774583	151774583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:151774583G>A	uc001ezf.1	-	1	788	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	LINGO4_uc021oyu.1_Missense_Mutation_p.L200F	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	200						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGACGGGCAAGGGCTAGGCCA	0.647000														51			17		0	0	0.00121646	0	0
EPB42	2038	broad.mit.edu	37	15	43494124	43494124	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:43494124G>A	uc001zrb.4	-	11	2221	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	EPB42_uc001zqz.4_Nonsense_Mutation_p.Q278*|EPB42_uc001zra.4_Nonsense_Mutation_p.Q611*|EPB42_uc010udm.2_Nonsense_Mutation_p.Q533*	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	611					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	p.Q641*(2)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGGGAGTTCTGGAGGCTGACT	0.562000														14			58		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9068621	9068621	+	Silent	SNP	T	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:9068621T>A	uc002mkp.3	-	2	19029	c.18825A>T	c.(18823-18825)tcA>tcT	p.S6275S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6277	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R6274L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATTTTGAGGTGAACGAGTCA	0.483000														28			28		0	0	0.00106085	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19433041	19433041	+	RNA	SNP	T	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:19433041T>A	uc010tcj.1	-	0		c.13069A>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ACAATGAAAATGAGCAAGTTG	0.378000														18			11		0	0	0.00136819	0	0
ZNF425	155054	broad.mit.edu	37	7	148801551	148801551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:148801551G>A	uc003wfj.3	-	3	1545	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	471					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCGGCGCAGGGGAAGGGCTT	0.667000														81			18		0	0	0.00074312	0	0
ZNF521	25925	broad.mit.edu	37	18	22807111	22807111	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:22807111G>A	uc002kvk.2	-	3	1018	c.771C>T	c.(769-771)ttC>ttT	p.F257F	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.F257F|ZNF521_uc002kvl.2_Silent_p.F37F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	257					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGTCTTCCGGGAAGTCAAAGC	0.557000			T	PAX5	ALL									8			31		0	0	0.000491102	0	0
TNS3	64759	broad.mit.edu	37	7	47384617	47384617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:47384617G>A	uc003tnw.3	-	18	2829	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	TNS3_uc022acn.1_Missense_Mutation_p.P381L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	824						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GAGGTCCTGGGGATAGCCAGG	0.502000														87			18		0	0	0.00121646	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115808	131115808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:131115808C>T	uc004but.3	+	8	1597	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	438					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CGTCTGCATTCCCTGCCAGCC	0.627000														9			38		0	0	0.00170553	0	0
ASB15	142685	broad.mit.edu	37	7	123256545	123256545	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:123256545G>A	uc003vku.1	+	5	580	c.288G>A	c.(286-288)ctG>ctA	p.L96L	ASB15_uc003vkv.1_Silent_p.L96L|ASB15_uc003vkw.1_Silent_p.L96L	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	96					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGATTGTTCTGGATGGTAAGA	0.338000														44			9		0	0	0.000442599	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129668810	129668810	+	Missense_Mutation	SNP	G	A	A	rs143076145	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:129668810G>A	uc003vpi.3	-	4	580	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	ZC3HC1_uc010lma.3_Missense_Mutation_p.R72C	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	185	F-box-like.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CTTTGAAAACGATCTAGGAAT	0.443000														30			56		0	0	0.000781405	0	0
BSN	8927	broad.mit.edu	37	3	49689898	49689898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:49689898C>T	uc003cxe.4	+	4	3023	c.2909C>T	c.(2908-2910)tCc>tTc	p.S970F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	970					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTAACGGGCTCCCCTGAGGAC	0.627000														21			23		0	0	0.00188189	0	0
ZP2	7783	broad.mit.edu	37	16	21213314	21213314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:21213314C>T	uc010bwn.1	-	11	1517	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	ZP2_uc002dii.2_Missense_Mutation_p.E440K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	440	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCATGTATTTCGTTTTCATAG	0.393000														24			18		0	0	0.00152264	0	0
ZBED1	9189	broad.mit.edu	37	X	2406968	2406968	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:2406968A>G	uc022brx.1	-	0	1793	c.1793T>C	c.(1792-1794)tTc>tCc	p.F598S	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.F598S|ZBED1_uc004cqg.2_Missense_Mutation_p.F598S|ZBED1_uc022brw.1_Missense_Mutation_p.F598S	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	598						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCAGGGGGAAGAGGGCCAG	0.652000														115			66		0	0	0.000781405	0	0
DGKI	9162	broad.mit.edu	37	7	137150748	137150748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:137150748C>T	uc003vtt.3	-	26	2543	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	DGKI_uc003vtu.3_Missense_Mutation_p.D558N	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	848					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AAAATCTCATCTTGGGAAATC	0.473000														99			14		0	0	0.00074312	0	0
FAM123C	205147	broad.mit.edu	37	2	131519662	131519662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:131519662G>A	uc021voy.1	+	0	17	c.17G>A	c.(16-18)gGa>gAa	p.G6E	FAM123C_uc002trw.2_Missense_Mutation_p.G6E|FAM123C_uc010fmv.2_Missense_Mutation_p.G6E|FAM123C_uc010fms.1_Missense_Mutation_p.G6E|FAM123C_uc010fmt.1_Missense_Mutation_p.G6E|FAM123C_uc010fmu.1_Missense_Mutation_p.G6E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	6										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGAAGAGAGGAAAGACCTTC	0.622000														1			12		0	0	0.000219431	0	0
TGM3	7053	broad.mit.edu	37	20	2293587	2293587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:2293587G>A	uc002wfx.4	+	4	681	c.584G>A	c.(583-585)aGg>aAg	p.R195K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	195					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ATCTTGGATAGGAGTCTGAAT	0.468000														86			28		0	0	0.00127121	0	0
GNAI1	2770	broad.mit.edu	37	7	79818515	79818515	+	Silent	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:79818515T>C	uc003uhb.1	+	2	608	c.271T>C	c.(271-273)Ttg>Ctg	p.L91L	GNAI1_uc011kgt.1_Silent_p.L39L	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	91					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TATGGGGAGGTTGAAGATAGA	0.408000														15			13		0	0	0.00074312	0	0
GABRA3	2556	broad.mit.edu	37	X	151393274	151393274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:151393274G>A	uc010ntk.1	-	5	835	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	199					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACATCCATGGGAAAATCTTCC	0.353000														32			66		0	0	0.000781405	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103027443	103027443	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:103027443C>T	uc001phn.1	+	25	4215	c.4071C>T	c.(4069-4071)ggC>ggT	p.G1357G	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.G1357G	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1357	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCATTTTCGGCCGTGGAGCAT	0.363000														21			12		0	0	0.00136819	0	0
MFSD9	84804	broad.mit.edu	37	2	103340158	103340158	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:103340158C>T	uc002tcb.2	-	5	705	c.637_splice	c.e5+1	p.G213_splice	MFSD9_uc010fja.2_Splice_Site|MFSD9_uc021vls.1_Splice_Site_p.G152_splice	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	213					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TGTCAACTTACCAGCATTGAG	0.383000														7			26		0	0	0.000878237	0	0
MAP7D3	79649	broad.mit.edu	37	X	135313883	135313883	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:135313883C>G	uc004ezt.3	-	7	1454	c.1233G>C	c.(1231-1233)gaG>gaC	p.E411D	MAP7D3_uc004ezs.3_Missense_Mutation_p.E376D|MAP7D3_uc011mwc.2_Missense_Mutation_p.E393D|MAP7D3_uc010nsa.2_Missense_Mutation_p.E369D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	411						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCAGGCTCCCCTCTGGGGCTG	0.627000														92			23		0	0	0.000586117	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223431	134223431	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:134223431C>T	uc003lac.1	+	1	808	c.150C>T	c.(148-150)caC>caT	p.H50H	TXNDC15_uc010jdy.1_Intron	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	50					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCCTGCTCACCCTCTCCAGG	0.562000														40			7		0	0	0.000157383	0	0
GPR158	57512	broad.mit.edu	37	10	25886796	25886796	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:25886796G>A	uc001isj.3	+	10	2301	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	GPR158_uc001isk.3_Silent_p.K122K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	747						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S746S(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGTGCTCGAAGAAGGGCCTAG	0.512000														4			13		0	0	0.000422831	0	0
ABCC10	89845	broad.mit.edu	37	6	43399895	43399895	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:43399895C>T	uc003ouy.1	+	2	392	c.177C>T	c.(175-177)atC>atT	p.I59I	ABCC10_uc003ouz.1_Silent_p.I16I	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	59						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGATTACATCCTACCCTGCA	0.567000														48			25		0	0	0.000720815	0	0
C1orf106	55765	broad.mit.edu	37	1	200880585	200880585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:200880585G>A	uc001gvo.3	+	8	1261	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C1orf106_uc010ppm.2_Missense_Mutation_p.D322N	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	407										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTCAGGGTGGATTCCTTCCG	0.632000														91			93		0	0	0.000781405	0	0
C1orf55	163859	broad.mit.edu	37	1	226175730	226175730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:226175730G>A	uc001hpu.4	-	5	1054	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	334										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					AGCCCCAGTGGGCTCCTCTTC	0.493000														49			74		0	0	0.000781405	0	0
OR13F1	138805	broad.mit.edu	37	9	107266729	107266729	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:107266729C>T	uc011lvm.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTACCTCTTCCTCAGCAATC	0.478000														26			40		0	0	0.00195071	0	0
BRWD3	254065	broad.mit.edu	37	X	79932655	79932655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:79932655G>A	uc004edt.3	-	40	5125	c.4862C>T	c.(4861-4863)tCt>tTt	p.S1621F	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.S1450F|BRWD3_uc004edq.3_Missense_Mutation_p.S1217F|BRWD3_uc010nmj.2_Missense_Mutation_p.S1217F|BRWD3_uc004edr.3_Missense_Mutation_p.S1291F|BRWD3_uc004eds.3_Missense_Mutation_p.S1217F|BRWD3_uc004edo.3_Missense_Mutation_p.S1217F|BRWD3_uc004edu.3_Missense_Mutation_p.S1291F|BRWD3_uc004edv.3_Missense_Mutation_p.S1217F|BRWD3_uc004edw.3_Missense_Mutation_p.S1217F|BRWD3_uc004edx.3_Missense_Mutation_p.S1217F|BRWD3_uc004edy.3_Missense_Mutation_p.S1217F|BRWD3_uc004edz.3_Missense_Mutation_p.S1291F|BRWD3_uc004eea.3_Missense_Mutation_p.S1291F|BRWD3_uc004eeb.3_Missense_Mutation_p.S1217F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1621										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCAGAGTCAGAACCACAGGT	0.368000														14			11		0	0	0.00185496	0	0
CCNE2	9134	broad.mit.edu	37	8	95900157	95900157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:95900157C>T	uc003yhc.3	-	6	702	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CCNE2_uc003yhd.2_Missense_Mutation_p.E200K	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	200					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GAACTTACCTCAAGTTTGGAA	0.254000														216			238		0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	42080678	42080678	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:42080678G>A	uc002yyq.1	-	1	515	c.63C>T	c.(61-63)caC>caT	p.H21H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	21					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGAGGCTGGAGTGTAGGTCTT	0.512000														50			26		0	0	0.000586117	0	0
ZNF90	7643	broad.mit.edu	37	19	20216075	20216075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:20216075G>A	uc002nor.2	+	2	315	c.176G>A	c.(175-177)gGa>gAa	p.G59E	ZNF90_uc021url.1_Non-coding_Transcript	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	59	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CTGGAGCAAGGAAAAAAACCC	0.398000														68			25		0	0	0.000720815	0	0
MST1P2	11209	broad.mit.edu	37	1	16974592	16974592	+	RNA	SNP	C	T	T	rs71253919	by1000genomes	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:16974592C>T	uc010och.2	+	6		c.1052C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGCCGGAACCCCGACGGCTCA	0.667000														44			9		0	0	0.000219431	0	0
PCDH19	57526	broad.mit.edu	37	X	99551284	99551284	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:99551284G>A	uc010nmz.3	-	5	5114	c.3438C>T	c.(3436-3438)atC>atT	p.I1146I	PCDH19_uc004efw.4_Silent_p.I1098I|PCDH19_uc004efx.4_Silent_p.I1099I	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1146					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTTAGAGAACGATATCCTTCA	0.483000														84			44		0	0	0.000680045	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063443	76063443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:76063443G>A	uc001oxh.1	-	4	751	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	PRKRIR_uc021qnn.1_Missense_Mutation_p.L76F|PRKRIR_uc010rrz.1_Missense_Mutation_p.L76F	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	251					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ACTTCCCTGAGAGTTTCTTCT	0.448000														22			25		0	0	0.000339439	0	0
RBBP4	5928	broad.mit.edu	37	1	33138102	33138102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:33138102C>T	uc001bvr.3	+	8	1177	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	RBBP4_uc001bvs.3_Missense_Mutation_p.R339C|RBBP4_uc010ohj.2_Missense_Mutation_p.R88C|RBBP4_uc010ohk.2_Missense_Mutation_p.R305C	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	340					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGGTACTGATCGCAGACTGAA	0.358000														16			59		0	0	0.000781405	0	0
ODZ4	26011	broad.mit.edu	37	11	78412905	78412905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:78412905C>T	uc001ozl.4	-	27	5216	c.4753G>A	c.(4753-4755)Gag>Aag	p.E1585K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1585					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGATAGAGCTCCTGGTCAATT	0.522000														57			60		0	0	0.000781405	0	0
MYOM1	8736	broad.mit.edu	37	18	3188889	3188889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:3188889C>T	uc002klp.3	-	3	962	c.628G>A	c.(628-630)Gca>Aca	p.A210T	MYOM1_uc002klq.3_Missense_Mutation_p.A210T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	210	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T209T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCTGGATGCCGTGGACTGC	0.522000														9			33		0	0	0.000692331	0	0
SYBU	55638	broad.mit.edu	37	8	110655054	110655054	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:110655054G>A	uc010mcp.3	-	2	494	c.132C>T	c.(130-132)gcC>gcT	p.A44A	SYBU_uc003yni.4_Silent_p.A41A|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Silent_p.A44A|SYBU_uc010mco.3_Silent_p.A43A|SYBU_uc003ynl.4_Silent_p.A43A|SYBU_uc010mcq.3_Silent_p.A44A|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Silent_p.A44A|SYBU_uc003ynm.4_Silent_p.A43A|SYBU_uc003ynn.4_Silent_p.A43A|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Silent_p.A44A|SYBU_uc010mcu.3_Silent_p.A43A|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Silent_p.A44A|AX748380_uc003ynq.1_5'Flank	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	44	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GAGACTCAGAGGCTGGGGACA	0.547000														64			17		0	0	0.000958276	0	0
MRC2	9902	broad.mit.edu	37	17	60767563	60767563	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:60767563G>A	uc002jad.3	+	25	4191	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q	MRC2_uc002jae.3_Silent_p.Q334Q|MRC2_uc002jaf.3_Silent_p.Q129Q	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1263					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGTCCCCAGGGACTGGCAG	0.637000														8			18		0	0	0.00074312	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990052	128990052	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:128990052C>T	uc003kvb.1	+	13	2212	c.2212C>T	c.(2212-2214)Cta>Tta	p.L738L	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	738	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L737L(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCTATTCTTCTATCAGAAAA	0.368000														14			23		0	0	0.000878237	0	0
CSMD1	64478	broad.mit.edu	37	8	3046514	3046514	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:3046514G>A	uc022aqr.1	-	34	5808	c.5418C>T	c.(5416-5418)ttC>ttT	p.F1806F	CSMD1_uc011kwj.2_Silent_p.F1199F|CSMD1_uc003wqe.3_Silent_p.F963F|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1807	CUB 11.					integral to membrane		p.F1535F(1)|p.F1806F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGTTGAGTGAAATTGCCAC	0.458000														15			19		0	0	0.00188189	0	0
NOS1	4842	broad.mit.edu	37	12	117715816	117715816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:117715816G>A	uc001twn.2	-	8	2323	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F	NOS1_uc021ren.1_Missense_Mutation_p.L202F|NOS1_uc021reo.1_Missense_Mutation_p.L202F|NOS1_uc001twm.2_Missense_Mutation_p.L538F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	538					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCTGGAAGAGCTCAGGGTCA	0.592000														17			37		0	0	0.00170553	0	0
PRB1	5542	broad.mit.edu	37	12	11506582	11506582	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:11506582C>T	uc001qzw.1	-	3	490	c.453_splice	c.e3+1	p.P151_splice	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	151	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCAGGGACTTCG	0.607000														67			14		0	0	0.000295444	0	0
MUC16	94025	broad.mit.edu	37	19	9046211	9046211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:9046211C>T	uc002mkp.3	-	4	35624	c.35420G>A	c.(35419-35421)gGt>gAt	p.G11807D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11809	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCTGCACCAGGTCTAAT	0.473000														15			19		0	0	0.00188189	0	0
PARP3	10039	broad.mit.edu	37	3	51980193	51980193	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:51980193C>T	uc003dby.3	+	8	1481	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	PARP3_uc003dbz.3_Silent_p.F377F	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	370	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGACAGATTCCAGGCCCACT	0.592000														77			31		0	0	0.000491102	0	0
GEMIN5	25929	broad.mit.edu	37	5	154291305	154291305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:154291305G>A	uc003lvx.3	-	14	2232	c.2149C>T	c.(2149-2151)Cat>Tat	p.H717Y	GEMIN5_uc011ddk.1_Missense_Mutation_p.H716Y	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	717					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCCGGGAATGATCTTGCATG	0.453000														61			24		0	0	0.00127121	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531956	140531956	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140531956C>T	uc003lir.3	+	0	2118	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	706					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.682000														88			98		0	0	0.000781405	0	0
RHCG	51458	broad.mit.edu	37	15	90021159	90021159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:90021159G>A	uc002bnz.2	-	5	908	c.884C>T	c.(883-885)aCc>aTc	p.T295I	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Missense_Mutation_p.T179I	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	295					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.T295T(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CTCAGCAGCGGTACCCACGGC	0.617000														7			20		0	0	0.00121646	0	0
ABCC3	8714	broad.mit.edu	37	17	48741203	48741203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:48741203G>A	uc002isl.3	+	8	1240	c.1160G>A	c.(1159-1161)gGt>gAt	p.G387D	ABCC3_uc002isk.4_Missense_Mutation_p.G387D|ABCC3_uc002ism.3_Missense_Mutation_p.G69D	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	387	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGGATCATGGGTGTCATCTAC	0.547000														23			26		0	0	0.000878237	0	0
OR4K5	79317	broad.mit.edu	37	14	20389203	20389203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:20389203G>A	uc010tkw.2	+	0	438	c.438G>A	c.(436-438)atG>atA	p.M146I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTGGTAATGATCTCCTGGG	0.438000														10			32		0	0	0.00178596	0	0
LDHC	3948	broad.mit.edu	37	11	18472604	18472604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:18472604C>T	uc001mon.4	+	7	1041	c.929C>T	c.(928-930)tCt>tTt	p.S310F	LDHC_uc001mom.4_Missense_Mutation_p.S310F|LDHC_uc009yhp.3_3'UTR|LDHC_uc001moo.4_Missense_Mutation_p.S194F|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_3'UTR	NM_017448	NP_059144	P07864	LDHC_HUMAN	Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA.	310					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AACTTGAATTCTGAGGAGGAG	0.368000														101			36		0	0	0.00195071	0	0
PARP4	143	broad.mit.edu	37	13	25021281	25021281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:25021281G>A	uc001upl.3	-	25	3264	c.3158C>T	c.(3157-3159)tCt>tTt	p.S1053F		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1053					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GACGGAGACAGAGTGGCAACT	0.473000														63			8		0	0	0.000422831	0	0
ZNF208	7757	broad.mit.edu	37	19	22155678	22155678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:22155678G>A	uc021urr.1	-	3	2307	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	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)				CATTTGTAGGGTTTCTCTCCA	0.378000														6			9		0	0	0.000673444	0	0
C12orf63	374467	broad.mit.edu	37	12	97051808	97051808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:97051808C>T	uc021rcc.1	+	3	602	c.524C>T	c.(523-525)tCt>tTt	p.S175F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	175										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GTATTAAAATCTCTGGAAGTT	0.353000														21			41		0	0	0.000437636	0	0
CACNA1E	777	broad.mit.edu	37	1	181689945	181689945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:181689945C>T	uc009wxt.3	+	14	2105	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	CACNA1E_uc001gow.3_Missense_Mutation_p.S637L|CACNA1E_uc009wxs.3_Missense_Mutation_p.S637L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	637					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S637S(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGACTCCTTCGGCAAATTTT	0.433000														9			6		0	0	0.000157383	0	0
TAF1L	138474	broad.mit.edu	37	9	32630827	32630827	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:32630827C>A	uc003zrg.1	-	0	4841	c.4751G>T	c.(4750-4752)cGg>cTg	p.R1584L	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1584	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAACTCTCCCGACTCTGATA	0.378000														32			19		4.96729e-08	3.25463e-07	0.00121646	1	0
TACC2	10579	broad.mit.edu	37	10	123843518	123843518	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:123843518G>A	uc001lfv.3	+	3	1863	c.1503G>A	c.(1501-1503)ttG>ttA	p.L501L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.L501L|TACC2_uc010qtv.2_Silent_p.L501L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	501	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGAGCACTTGAACACGGAGC	0.602000														20			65		0	0	0.000781405	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353665	37353665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:37353665G>A	uc002xjc.3	+	0	561	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	100					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGGCTCCAAGGACCAGGTGGG	0.672000														50			17		0	0	0.00121646	0	0
ZNF556	80032	broad.mit.edu	37	19	2877583	2877583	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:2877583G>A	uc002lwp.1	+	3	714	c.627G>A	c.(625-627)ggG>ggA	p.G209G	ZNF556_uc002lwq.3_Silent_p.G208G	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATCTTGCGGGAAGACATTTC	0.488000														60			17		0	0	0.00074312	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688467	30688467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:30688467G>A	uc010gvu.3	-	8	1530	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	TBC1D10A_uc003ahd.3_5'Flank|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_5'Flank|TBC1D10A_uc010gvs.2_5'Flank|TBC1D10A_uc003ahk.4_Missense_Mutation_p.A475V	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	475						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GTCCTTGGGGGCTGAGTCCTT	0.632000														57			76		0	0	0.000781405	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442053	20442053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:20442053C>T	uc001bcz.3	-	2	256	c.239G>A	c.(238-240)aGc>aAc	p.S80N	PLA2G2D_uc009vpo.3_Intron	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	80			S -> G (in dbSNP:rs584367).		inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.C79C(1)		endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGTAGATGCTGCACCCCTG	0.582000										Multiple Myeloma(11;0.12)				21			52		0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41414575	41414575	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:41414575G>A	uc002yyq.1	-	31	5861	c.5409C>T	c.(5407-5409)tcC>tcT	p.S1803S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1803					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTTTCTGTGGAGACCATGC	0.537000														19			13		0	0	0.000219431	0	0
NLRP12	91662	broad.mit.edu	37	19	54314011	54314011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:54314011G>A	uc002qcj.4	-	2	1122	c.902C>T	c.(901-903)cCt>cTt	p.P301L	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.P301L|NLRP12_uc002qci.4_Missense_Mutation_p.P301L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P301L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	301	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTGGAAAGAAGGCTTGAGCTC	0.587000														24			22		0	0	0.00047179	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481216	140481216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140481216C>T	uc003lio.3	+	0	983	c.983C>T	c.(982-984)tCc>tTc	p.S328F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	328	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCCTATCCGGAAAGTCT	0.453000														66			26		0	0	0.000878237	0	0
ATP1A3	478	broad.mit.edu	37	19	42482129	42482129	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:42482129G>A	uc002osh.3	-	13	2056	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	ATP1A3_uc010xwf.2_Silent_p.I645I|ATP1A3_uc010xwg.2_Silent_p.I604I|ATP1A3_uc002osg.3_Silent_p.I634I|ATP1A3_uc010xwh.2_Silent_p.I647I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	634					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCGGGCGGCGATGTCCTCCA	0.632000														60			23		0	0	0.00047179	0	0
SCN11A	11280	broad.mit.edu	37	3	38938701	38938701	+	Silent	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:38938701A>G	uc021wvy.1	-	13	2237	c.2038T>C	c.(2038-2040)Tta>Cta	p.L680L	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	680					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GATTTGGCTAACTTGAAGACC	0.418000														10			17		0	0	0.00121646	0	0
TLR6	10333	broad.mit.edu	37	4	38829302	38829302	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:38829302A>C	uc010ifg.2	-	1	1914	c.1793T>G	c.(1792-1794)tTg>tGg	p.L598W	TLR6_uc003gtm.3_Missense_Mutation_p.L598W	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	598					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTCACAGCCAACACCAGCAT	0.522000														42			54		0	0	0.000781405	0	0
PRSS21	10942	broad.mit.edu	37	16	2871404	2871404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:2871404G>A	uc002crt.3	+	5	849	c.743G>A	c.(742-744)gGa>gAa	p.G248E	PRSS21_uc002crr.3_Missense_Mutation_p.G234E|PRSS21_uc002crs.3_Missense_Mutation_p.G246E	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	248	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						AACAAGAATGGACTGTGGTAT	0.617000														18			8		0	0	0.000157383	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279320	279320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:279320C>T	uc002wdf.3	+	0	1117	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S		NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA.	365							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCACCTGAGCCCTTACTGCCG	0.612000														42			19		0	0	0.00188189	0	0
CYP2C8	1558	broad.mit.edu	37	10	96796988	96796988	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:96796988T>A	uc001kkb.3	-	8	1465	c.1370A>T	c.(1369-1371)aAc>aTc	p.N457I	CYP2C8_uc010qoa.2_Missense_Mutation_p.N387I|CYP2C8_uc010qoc.2_Missense_Mutation_p.N355I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.N371I|CYP2C8_uc021pwl.1_Missense_Mutation_p.N387I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	457					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGATTTCAGGTTAAAGTTCTG	0.393000														5			14		0	0	0.00185496	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658002	46658002	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:46658002C>T	uc003bhh.3	-	0	1218	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	406	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGGCCATTTCAGATTGGCCT	0.512000														75			74		0	0	0.000781405	0	0
LPHN1	22859	broad.mit.edu	37	19	14271494	14271494	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:14271494G>A	uc010xnn.2	-	7	1836	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*	LPHN1_uc010xno.2_Nonsense_Mutation_p.Q509*|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAGACACTGGAAGGAGGCA	0.602000														18			14		0	0	0.000308642	0	0
POLQ	10721	broad.mit.edu	37	3	121251895	121251895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:121251895G>A	uc003eee.4	-	5	1031	c.902C>T	c.(901-903)tCc>tTc	p.S301F		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	301					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTCATATATGGAATTTCCAAC	0.398000								DNA polymerases (catalytic subunits)						47			13		0	0	0.000308642	0	0
DNAH9	1770	broad.mit.edu	37	17	11778270	11778270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:11778270C>T	uc002gne.3	+	52	10315	c.10247C>T	c.(10246-10248)cCc>cTc	p.P3416L	DNAH9_uc010coo.3_Missense_Mutation_p.P2710L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3416					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACCAGACTCCCATTCCAGTC	0.557000														69			23		0	0	0.000720815	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817403	45817403	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:45817403G>A	uc011bai.2	-	3	556	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC6A20_uc011baj.2_Silent_p.S144S	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	144					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGTACTGTGTGGAGGACGCCT	0.592000														116			40		0	0	0.000437636	0	0
OR2A5	393046	broad.mit.edu	37	7	143747860	143747860	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:143747860G>A	uc011ktw.2	+	0	366	c.366G>A	c.(364-366)cgG>cgA	p.R122R		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122L(1)|p.R122R(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTACGATCGGTACATGGCTA	0.473000														92			184		0	0	0.000781405	0	0
TOB2	10766	broad.mit.edu	37	22	41833051	41833051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:41833051G>A	uc003azz.1	-	1	1006	c.299C>T	c.(298-300)tCc>tTc	p.S100F	TOB2_uc021wqf.1_Missense_Mutation_p.S100F	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	100					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AATCTGGTAGGACACCTCAAA	0.587000														31			34		0	0	0.000814825	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232487	5232487	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:5232487C>G	uc003jdl.3	+	11	1846	c.1708C>G	c.(1708-1710)Cgg>Ggg	p.R570G	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R570G|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	570	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTAGTGGTGCCGGGGAGGACA	0.507000														36			21		0	0	0.000295444	0	0
SCN10A	6336	broad.mit.edu	37	3	38793763	38793763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:38793763C>T	uc003ciq.3	-	10	1702	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	568					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGTTGGTGTTCATCTTCTCCA	0.607000														33			21		0	0	0.000375601	0	0
ABCA11P	79963	broad.mit.edu	37	4	420497	420497	+	Missense_Mutation	SNP	G	A	A	rs139749429		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:420497G>A	uc003gae.3	-	4	944	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	ABCA11P_uc003gac.2_Missense_Mutation_p.R86C|ABCA11P_uc003gad.2_Non-coding_Transcript|ABCA11P_uc011buv.2_3'UTR|ABCA11P_uc010ibd.2_Missense_Mutation_p.R137C					Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene (ABCA11P), non-coding RNA.																		AACACAAAACGAAACATTTCT	0.383000														17			18		0	0	0.00121646	0	0
HOXB8	3218	broad.mit.edu	37	17	46691956	46691956	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:46691956G>A	uc002inw.3	-	0	346	c.111C>T	c.(109-111)acC>acT	p.T37T		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CGTACACCACGGTGGGTCGGC	0.622000														4			10		0	0	0.00136819	0	0
OR51S1	119692	broad.mit.edu	37	11	4870293	4870293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:4870293C>T	uc010qyo.2	-	0	146	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGCCATTTCCCAGTGCAGA	0.567000														20			19		0	0	0.000958276	0	0
C15orf2	23742	broad.mit.edu	37	15	24921404	24921404	+	Silent	SNP	A	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:24921404A>C	uc001ywo.3	+	0	864	c.390A>C	c.(388-390)ccA>ccC	p.P130P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	130					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGCCTTCACCACGTGAGCCGG	0.632000														16			34		0	0	0.00128727	0	0
MXRA5	25878	broad.mit.edu	37	X	3238193	3238193	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:3238193T>C	uc004crg.4	-	4	5690	c.5533A>G	c.(5533-5535)Aaa>Gaa	p.K1845E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1845						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GACCAGAATTTGGATGCAGGA	0.517000														43			45		0	0	0.000781405	0	0
TRPM2	7226	broad.mit.edu	37	21	45802643	45802643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:45802643C>T	uc010gpt.1	+	8	1358	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TRPM2_uc002zet.1_Missense_Mutation_p.R420W|TRPM2_uc002zeu.1_Missense_Mutation_p.R420W|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R420W|TRPM2_uc002zex.1_Missense_Mutation_p.R206W	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	420						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GACTGTCTTCCGGGAAGGCAA	0.577000														20			10		0	0	0.000673444	0	0
BRWD3	254065	broad.mit.edu	37	X	79960305	79960305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:79960305C>T	uc004edt.3	-	22	2856	c.2593G>A	c.(2593-2595)Gga>Aga	p.G865R	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.G694R|BRWD3_uc004edq.3_Missense_Mutation_p.G461R|BRWD3_uc010nmj.2_Missense_Mutation_p.G461R|BRWD3_uc004edr.3_Missense_Mutation_p.G535R|BRWD3_uc004eds.3_Missense_Mutation_p.G461R|BRWD3_uc004edo.3_Missense_Mutation_p.G461R|BRWD3_uc004edu.3_Missense_Mutation_p.G535R|BRWD3_uc004edv.3_Missense_Mutation_p.G461R|BRWD3_uc004edw.3_Missense_Mutation_p.G461R|BRWD3_uc004edx.3_Missense_Mutation_p.G461R|BRWD3_uc004edy.3_Missense_Mutation_p.G461R|BRWD3_uc004edz.3_Missense_Mutation_p.G535R|BRWD3_uc004eea.3_Missense_Mutation_p.G535R|BRWD3_uc004eeb.3_Missense_Mutation_p.G461R	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	865								p.A864T(1)|p.G865G(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAATTTATTCCAGCATCTGCT	0.348000														37			30		0	0	0.000339439	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858383	9858383	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:9858383C>T	uc010uym.2	-	13	3328	c.3018G>A	c.(3016-3018)gcG>gcA	p.A1006A	GRIN2A_uc002czo.4_Silent_p.A1006A|GRIN2A_uc010uyn.2_Silent_p.A849A|GRIN2A_uc002czr.4_Silent_p.A1006A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1006					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A1006A(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCTAGAGTTCGCTTTGGATT	0.507000														23			21		0	0	0.00152264	0	0
PDS5A	23244	broad.mit.edu	37	4	39881417	39881417	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:39881417C>T	uc003guv.4	-	17	2463	c.1923G>A	c.(1921-1923)ggG>ggA	p.G641G		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	641					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CATCTGCTGTCCCCTCTATTG	0.358000														44			23		0	0	0.000409698	0	0
LOC399753	399753	broad.mit.edu	37	10	49218553	49218553	+	Missense_Mutation	SNP	T	C	C	rs77581903		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:49218553T>C	uc001jgd.3	-	7	1745	c.1586A>G	c.(1585-1587)cAt>cGt	p.H529R	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATATTTGGAATGGATCCAGCG	0.567000														19			4		0	0	0.00116845	0	0
NMD3	51068	broad.mit.edu	37	3	160939835	160939835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:160939835C>T	uc003feb.1	+	1	153	c.34C>T	c.(34-36)Cct>Tct	p.P12S	NMD3_uc003fec.3_Missense_Mutation_p.P12S|NMD3_uc003fed.1_Missense_Mutation_p.P12S	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	12					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CGACCGCAGCCCTGGACACAT	0.423000														37			33		0	0	0.000953801	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250914	142250914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:142250914C>T	uc011ksf.2	-	1	148	c.133G>A	c.(133-135)Gat>Aat	p.D45N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGTCTCATATCCTGGGTACAT	0.498000														25			55		0	0	0.000781405	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213341253	213341254	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:213341253_213341254CC>TT	uc010ptr.2	+	6	1047_1048	c.888_889CC>TT	c.(886-891)tacctc>taTTtc	p.L297F	RPS6KC1_uc001hkd.3_Missense_Mutation_p.L285F|RPS6KC1_uc010pts.2_Missense_Mutation_p.L116F|RPS6KC1_uc010ptt.2_Missense_Mutation_p.L116F|RPS6KC1_uc010ptu.2_Missense_Mutation_p.L116F|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_Missense_Mutation_p.L116F	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	297	MIT.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGCCGAGTACCTCATGCGGGC	0.401000														18			14		0	0	6.4e-05	0	0
GRM8	2918	broad.mit.edu	37	7	126883108	126883108	+	Missense_Mutation	SNP	G	A	A	rs149971619		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:126883108G>A	uc003vlr.2	-	0	462	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.L51F|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	51					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACAGGGAAGAGACCCCCCAAA	0.522000										HNSCC(24;0.065)				50			11		0	0	0.000978159	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145969654	145969654	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:145969654C>T	uc011dbv.2	-	10	1625	c.1362G>A	c.(1360-1362)ggG>ggA	p.G454G	PPP2R2B_uc010jgm.3_Silent_p.G385G|PPP2R2B_uc003loe.3_Silent_p.G396G|PPP2R2B_uc003log.4_Silent_p.G396G|PPP2R2B_uc003lof.4_Silent_p.G396G|PPP2R2B_uc003loi.4_Silent_p.G399G|PPP2R2B_uc003loh.4_Silent_p.G396G|PPP2R2B_uc003lok.4_Silent_p.G385G|PPP2R2B_uc003loj.4_Silent_p.G376G|PPP2R2B_uc011dbu.2_Silent_p.G402G	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	396					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCTTGCCCCCCACACACA	0.498000														29			43		0	0	0.000680045	0	0
CATSPERB	79820	broad.mit.edu	37	14	92174546	92174546	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:92174546G>A	uc001xzs.1	-	5	545	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	135					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GATGTAAAGTGATTCTTACTA	0.308000														11			15		0	0	0.000958276	0	0
DGCR8	54487	broad.mit.edu	37	22	20097562	20097562	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:20097562G>A	uc002zri.3	+	13	2682	c.2253G>A	c.(2251-2253)aaG>aaA	p.K751K	DGCR8_uc010grz.3_Silent_p.K718K|DGCR8_uc002zrj.3_Silent_p.K394K	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	751	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGACTCGAAAGAAGCCCAAGA	0.647000														49			14		0	0	0.000308642	0	0
ABCA8	10351	broad.mit.edu	37	17	66878810	66878810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:66878810C>T	uc002jhq.3	-	29	4098	c.3758G>A	c.(3757-3759)gGa>gAa	p.G1253E	ABCA8_uc002jhp.3_Missense_Mutation_p.G1213E|ABCA8_uc010wqq.2_Missense_Mutation_p.G1248E	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1213	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTCATCCTCTCCTTCTGGTTC	0.338000														53			21		0	0	0.00152264	0	0
EPHB3	2049	broad.mit.edu	37	3	184295460	184295460	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:184295460C>T	uc003foz.3	+	6	1931	c.1494C>T	c.(1492-1494)gcC>gcT	p.A498A		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	498	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGGCATCGCCTCCACAGTGA	0.657000														50			21		0	0	0.000295444	0	0
DMRT2	10655	broad.mit.edu	37	9	1056230	1056230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:1056230C>T	uc003zha.3	+	3	843	c.643C>T	c.(643-645)Cca>Tca	p.P215S	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.P59S|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.P215S	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	215					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TCGCCCCATTCCAGCGGAGAC	0.448000														21			65		0	0	0.000781405	0	0
FRYL	285527	broad.mit.edu	37	4	48525101	48525101	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:48525101G>A	uc003gyh.1	-	53	7943	c.7338C>T	c.(7336-7338)ttC>ttT	p.F2446F	FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Silent_p.F1142F|FRYL_uc003gyi.1_Silent_p.F1334F|FRYL_uc003gyj.1_Silent_p.F741F	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2446					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCCCCAGTTGAAATTGTCCA	0.448000														9			13		0	0	0.000308642	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														16			5		0	0	8.12818e-05	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118572	118572	+	RNA	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrGL000205.1:118572G>A	uc002kgk.4	+	0		c.1950G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCTTTTTAGCTGATTCCGG	0.398000														28			7		0	0	8.12818e-05	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766044	27766044	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:27766044C>T	uc011mjy.2	+	0	1119	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTGTTGTCTTCACCATTGACC	0.483000														30			22		0	0	0.000878237	0	0
POLR2H	5437	broad.mit.edu	37	3	184086028	184086028	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:184086028T>A	uc003fok.2	+	4	486	c.399T>A	c.(397-399)caT>caA	p.H133Q		NM_006232	NP_006223	P52434	RPAB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide H (POLR2H), mRNA.	133					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAACCTGCATGGATTCGAGG	0.567000														52			64		0	0	0.000781405	0	0
ARSJ	79642	broad.mit.edu	37	4	114823685	114823685	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:114823685G>A	uc003ibq.1	-	1	2433	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	ARSJ_uc010imu.1_Silent_p.I515I|ARSJ_uc010imv.1_Silent_p.I343I	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	515						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GCTTCTTCACGATTCCTGGAT	0.502000														40			11		0	0	0.000978159	0	0
MEP1A	4224	broad.mit.edu	37	6	46761430	46761430	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:46761430A>T	uc011dwh.1	+	1	214	c.206A>T	c.(205-207)aAg>aTg	p.K69M	MEP1A_uc010jzh.1_Missense_Mutation_p.K41M|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	41	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GGTGAACAGAAGGATATTTCA	0.323000														16			5		0	0	0.000274275	0	0
CD47	961	broad.mit.edu	37	3	107779599	107779599	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:107779599G>A	uc003dwt.1	-	3	771	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CD47_uc003dwv.1_Silent_p.F197F	NM_001777	NP_001768	Q08722	CD47_HUMAN	Homo sapiens CD47 molecule (CD47), transcript variant 1, mRNA.	197					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TACCTGGGACGAAAAGAATGG	0.458000														16			7		0	0	0.000157383	0	0
RNF24	11237	broad.mit.edu	37	20	3944649	3944649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:3944649G>A	uc002wkj.2	-	1	156	c.16C>T	c.(16-18)Cca>Tca	p.P6S	RNF24_uc002wkh.2_Missense_Mutation_p.P6S|RNF24_uc002wki.2_Missense_Mutation_p.P27S	NM_001134337	NP_009150	Q9Y225	RNF24_HUMAN	Homo sapiens ring finger protein 24 (RNF24), transcript variant 2, mRNA.	6						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TTGTAATGTGGGAAATCCGAG	0.378000														31			13		0	0	0.00185496	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790092	133790092	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:133790092C>T	uc001qgx.4	-	17	3759	c.3528G>A	c.(3526-3528)cgG>cgA	p.R1176R		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1176	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TAGGCCGGGGCCGGGGCTGGG	0.701000														38			23		0	0	0.000295444	0	0
TFE3	7030	broad.mit.edu	37	X	48896763	48896763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:48896763C>T	uc004dmb.3	-	2	641	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TFE3_uc004dmc.3_Missense_Mutation_p.E30K|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	135					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GCGGCCTGTTCCCGACGCTCA	0.662000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									10			6		0	0	8.12818e-05	0	0
RASSF6	166824	broad.mit.edu	37	4	74447996	74447996	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:74447996G>A	uc003hhd.1	-	6	798	c.675C>T	c.(673-675)ttC>ttT	p.F225F	RASSF6_uc003hhc.1_Silent_p.F193F|RASSF6_uc010iik.1_Intron|RASSF6_uc010iil.1_Silent_p.F181F	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	225	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AGGCTGGAATGAAAATTGATG	0.284000														12			4		0	0	0.000602214	0	0
CSMD2	114784	broad.mit.edu	37	1	34204909	34204909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:34204909G>A	uc001bxm.1	-	14	2377	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	CSMD2_uc001bxn.1_Missense_Mutation_p.P694S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	694	Sushi 4.					integral to membrane|plasma membrane	protein binding	p.V733I(1)|p.P694A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAACGCCAGGATCCGGGCAC	0.522000														17			57		0	0	0.000781405	0	0
GRIA2	2891	broad.mit.edu	37	4	158284155	158284155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:158284155G>A	uc003ipm.4	+	14	3070	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	GRIA2_uc011cit.2_Missense_Mutation_p.E824K|GRIA2_uc003ipl.4_Missense_Mutation_p.E871K|GRIA2_uc003ipk.4_Missense_Mutation_p.E824K|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	871					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AACTTATAAGGAAGGTTACAA	0.413000														10			17		0	0	0.00121646	0	0
ZNF808	388558	broad.mit.edu	37	19	53058076	53058076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:53058076C>T	uc010epq.1	+	4	2084	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACGTGGAATTCACAGCTGGCA	0.408000														64			16		0	0	0.000308642	0	0
SPTLC2	9517	broad.mit.edu	37	14	77987881	77987881	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:77987881G>A	uc001xub.3	-	9	1535	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	449				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCGTCTCCTGAAATACCTGG	0.408000														8			14		0	0	0.000219431	0	0
KCNV1	27012	broad.mit.edu	37	8	110980573	110980573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:110980573C>T	uc003ynr.4	-	2	2051	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E	KCNV1_uc010mcw.3_Missense_Mutation_p.G416E	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	416						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GACAAGAATTCCCGATAATAT	0.473000														92			23		0	0	0.00047179	0	0
TICAM1	148022	broad.mit.edu	37	19	4816790	4816790	+	Nonsense_Mutation	SNP	G	A	A	rs142171170	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:4816790G>A	uc002mbi.3	-	1	1851	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	TICAM1_uc021unj.1_Nonsense_Mutation_p.Q534*	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	534	Sufficient to induce apoptosis.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TTTCGGGCCTGAAGCCTGTGG	0.652000														12			17		0	0	0.000422831	0	0
GRID2	2895	broad.mit.edu	37	4	94316791	94316791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:94316791G>A	uc011cdt.2	+	8	1537	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R	GRID2_uc011cdu.2_Missense_Mutation_p.G332R	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	427					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGTCTGAATGGGTCACTGAC	0.433000														7			6		0	0	0.000157383	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37356868	37356868	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:37356868A>G	uc003zzq.3	+	8	1408	c.1235A>G	c.(1234-1236)aAg>aGg	p.K412R	ZCCHC7_uc011lqh.2_Missense_Mutation_p.K122R|ZCCHC7_uc022bgu.1_Missense_Mutation_p.K412R|ZCCHC7_uc010mlt.3_Missense_Mutation_p.K411R	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	412							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GAGCCATCCAAGCTACCTTAT	0.403000														4			13		0	0	0.00185496	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:9072091G>A	uc002mkp.3	-	2	15559	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5121	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453000														35			14		0	0	0.00185496	0	0
ZNF534	147658	broad.mit.edu	37	19	52941172	52941172	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:52941172C>T	uc002pzk.3	+	3	565	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.F153F	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAAGTTTTTTCAGTGTCAAAA	0.328000														23			28		0	0	0.00106085	0	0
SORCS3	22986	broad.mit.edu	37	10	106983007	106983007	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:106983007G>A	uc001kyi.1	+	20	3095	c.2868_splice	c.e20+1	p.K956_splice	SORCS3_uc010qqz.1_Splice_Site	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	956						integral to membrane	neuropeptide receptor activity			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)		ATAGCACAAAGGTTTGGCCCT	0.453000														28			29		0	0	0.000409698	0	0
OR56A5	390084	broad.mit.edu	37	11	5988832	5988832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:5988832C>T	uc010qzu.2	-	0	893	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	298						integral to membrane|plasma membrane	olfactory receptor activity										CTCCTTGGTTCTCACACCATA	0.463000														10			12		0	0	0.000422831	0	0
WDR62	284403	broad.mit.edu	37	19	36592210	36592210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:36592210C>T	uc002odd.2	+	23	3053	c.2962C>T	c.(2962-2964)Ccg>Tcg	p.P988S	WDR62_uc002odc.2_Missense_Mutation_p.P988S	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	988					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACCAGAGCCCGCCTGAGGG	0.637000														9			10		0	0	0.00136819	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911566	100911566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:100911566C>T	uc010nnt.2	-	4	1818	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	ARMCX2_uc004eid.2_Missense_Mutation_p.D337N|ARMCX2_uc004eie.3_Missense_Mutation_p.D337N|ARMCX2_uc004eif.3_Missense_Mutation_p.D337N|ARMCX2_uc004eig.3_Missense_Mutation_p.D337N|ARMCX2_uc022caq.1_Missense_Mutation_p.D337N	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	337						integral to membrane	binding	p.P336T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCCTCAGAATCAGGGACCTCT	0.607000														50			36		0	0	0.000814825	0	0
MYO5B	4645	broad.mit.edu	37	18	47479700	47479700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:47479700G>A	uc002leb.2	-	13	1970	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	MYO5B_uc021ukb.1_Missense_Mutation_p.S560F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	561	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AAAACCATCAGAGAGGTACTC	0.488000														12			30		0	0	0.00058488	0	0
CSE1L	1434	broad.mit.edu	37	20	47695115	47695115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:47695115C>T	uc002xty.3	+	13	1572	c.1438C>T	c.(1438-1440)Ctt>Ttt	p.L480F	CSE1L_uc010zyg.2_Missense_Mutation_p.L263F|CSE1L_uc010ghx.3_Missense_Mutation_p.L424F|CSE1L_uc010ghy.3_Missense_Mutation_p.L129F|CSE1L_uc010zyh.2_Missense_Mutation_p.L129F	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	480					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATTTCCTGTCCTTAAAGCTGA	0.289000														70			45		0	0	0.000781405	0	0
NEK9	91754	broad.mit.edu	37	14	75574130	75574130	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:75574130G>A	uc001xrl.3	-	10	1397	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	NEK9_uc001xrk.3_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	415					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TTTGGCTGTCGATAGGAGGCT	0.443000														11			20		0	0	0.00121646	0	0
CTDP1	9150	broad.mit.edu	37	18	77475254	77475254	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:77475254C>T	uc002lnh.2	+	7	1941	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	CTDP1_uc002lni.2_Silent_p.V598V|CTDP1_uc010drd.2_Silent_p.V598V|CTDP1_uc021ult.1_Silent_p.V479V	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	598					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	p.L597L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGATCCTGGTCCGTGTACACA	0.587000														2			10		0	0	0.000673444	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185417	127185417	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:127185417G>A	uc004eum.3	-	0	966	c.769C>T	c.(769-771)Caa>Taa	p.Q257*		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	257						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGGGCACTTGGTACAGCTCA	0.542000														33			28		0	0	0.00127121	0	0
MAST3	23031	broad.mit.edu	37	19	18249889	18249889	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:18249889C>T	uc002nhz.4	+	18	2073	c.2073C>T	c.(2071-2073)tcC>tcT	p.S691S		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	691	AGC-kinase C-terminal.						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						AAGAATCGTCCACAGAGATCC	0.597000														8			3		0	0	0.00024832	0	0
ACTA2	59	broad.mit.edu	37	10	90697976	90697976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:90697976C>T	uc001kfp.3	-	7	948	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.E233K|ACTA2_uc001kfq.3_Missense_Mutation_p.E278K|AX748062_uc001kfo.1_Non-coding_Transcript	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	278					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TAGGTGGTTTCATGGATGCCA	0.483000														9			20		0	0	0.000295444	0	0
HYAL4	23553	broad.mit.edu	37	7	123516965	123516965	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:123516965A>G	uc003vlc.3	+	4	1840	c.1202A>G	c.(1201-1203)aAc>aGc	p.N401S	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	401					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTCACTTGAACCCTGCAAGT	0.502000														71			14		0	0	0.000566183	0	0
TMEM106A	113277	broad.mit.edu	37	17	41365228	41365228	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:41365228C>T	uc002idn.1	+	2	405	c.168C>T	c.(166-168)ttC>ttT	p.F56F	TMEM106A_uc010why.1_Silent_p.F8F|TMEM106A_uc010cze.1_Silent_p.F56F|TMEM106A_uc010whz.1_Silent_p.F56F	NM_145041	NP_659478	Q96A25	T106A_HUMAN	Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.	56						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)		ATGCCAGCTTCGTGACTTGTC	0.542000														89			105		0	0	0.000781405	0	0
OR6K3	391114	broad.mit.edu	37	1	158687162	158687162	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:158687162C>T	uc021pbn.1	-	0	744	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAAAGAATATCGGGAAGACCA	0.453000														1			3		0	0	6.4e-05	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746445	77746445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:77746445C>T	uc002snr.3	-	2	965	c.550G>A	c.(550-552)Gat>Aat	p.D184N	LRRTM4_uc002snq.3_Missense_Mutation_p.D184N|LRRTM4_uc002sns.2_Missense_Mutation_p.D184N|LRRTM4_uc002snt.2_Missense_Mutation_p.D185N	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	184						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCCAAAAAATCAAGATTCCGA	0.418000														4			6		0	0	0.000157383	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212587	35212587	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:35212587G>A	uc003okf.1	+	18	2407	c.2401_splice	c.e18+1	p.N801_splice	SCUBE3_uc003okg.1_Splice_Site_p.N800_splice|SCUBE3_uc003okh.1_Splice_Site_p.N688_splice	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	801					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCAATGCAAGAGTACGTGGC	0.577000														144			24		0	0	0.000375601	0	0
FLNC	2318	broad.mit.edu	37	7	128490469	128490469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:128490469C>T	uc003vnz.4	+	31	5539	c.5330C>T	c.(5329-5331)cCa>cTa	p.P1777L	FLNC_uc003voa.4_Missense_Mutation_p.P1744L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1777					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTGTGGAGCCAATGGAGTCC	0.607000														192			37		0	0	0.000589545	0	0
DNAH7	56171	broad.mit.edu	37	2	196749357	196749357	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:196749357G>A	uc002utj.4	-	34	5816	c.5715C>T	c.(5713-5715)gtC>gtT	p.V1905V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1905					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGGAAATGGGACAGTTAGTG	0.408000														14			38		0	0	0.000509022	0	0
BAI3	577	broad.mit.edu	37	6	69785900	69785900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:69785900C>T	uc010kak.3	+	15	2726	c.2450C>T	c.(2449-2451)cCc>cTc	p.P817L	BAI3_uc003pev.4_Missense_Mutation_p.P817L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	817	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTTTGAATCCCTATTGTGTA	0.333000														18			15		0	0	0.000958276	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133963531	133963531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:133963531G>A	uc001lkx.4	+	14	1993	c.1993G>A	c.(1993-1995)Gat>Aat	p.D665N	JAKMIP3_uc009yba.1_Missense_Mutation_p.D102N	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CATCCTGGGCGATAACGCCGT	0.627000														7			5		0	0	8.12818e-05	0	0
PARK2	5071	broad.mit.edu	37	6	162864403	162864403	+	Missense_Mutation	SNP	G	A	A	rs148990138	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:162864403G>A	uc021zhu.1	-	2	342	c.251C>T	c.(250-252)cCg>cTg	p.P84L	PARK2_uc003qtw.4_5'UTR|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Missense_Mutation_p.P37L|PARK2_uc021zhs.1_Missense_Mutation_p.P37L|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.P37L|PARK2_uc003qtz.4_Missense_Mutation_p.P37L|PARK2_uc021zhv.1_5'UTR|PARK2_uc021zhw.1_5'UTR|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.P37L|PARK2_uc010kke.1_Missense_Mutation_p.P37L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	37					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTGGTCAGCCGGAACCCCCTG	0.572000														36			4		0	0	0.000602214	0	0
SIAH3	283514	broad.mit.edu	37	13	46358066	46358066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:46358066G>A	uc001vap.3	-	1	344	c.262C>T	c.(262-264)Cac>Tac	p.H88Y		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	88	His-rich.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						tgaaggtggtgggggtgggcg	0.677000														23			6		0	0	0.00116845	0	0
AGTR2	186	broad.mit.edu	37	X	115303711	115303711	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:115303711C>T	uc022cdd.1	+	0	178	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	AGTR2_uc004eqh.4_Silent_p.L60L	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	60					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						AATTGGATTTCTGGTCAATAT	0.363000														23			14		0	0	0.00185496	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883516	51883516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:51883516G>A	uc001rys.1	+	18	2659	c.2481G>A	c.(2479-2481)atG>atA	p.M827I	SLC4A8_uc001rym.3_Missense_Mutation_p.M774I|SLC4A8_uc001ryn.3_Missense_Mutation_p.M774I|SLC4A8_uc001ryo.2_Missense_Mutation_p.M774I|SLC4A8_uc010snj.2_Missense_Mutation_p.M854I|SLC4A8_uc001ryr.3_Missense_Mutation_p.M827I	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	827					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCTACTGATGGTGGCCATCA	0.517000														8			47		0	0	0.000781405	0	0
GPR112	139378	broad.mit.edu	37	X	135428847	135428847	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:135428847C>T	uc004ezu.1	+	5	3273	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	GPR112_uc010nsb.1_Silent_p.I789I|GPR112_uc010nsc.1_Silent_p.I761I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	994					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGATGGTATCTTACCTCCAC	0.502000														19			11		0	0	0.000673444	0	0
CCNA1	8900	broad.mit.edu	37	13	37014171	37014171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:37014171G>A	uc001uvr.4	+	5	1299	c.949G>A	c.(949-951)Gat>Aat	p.D317N	CCNA1_uc010teo.2_Missense_Mutation_p.D273N|CCNA1_uc010abq.3_Missense_Mutation_p.D273N|CCNA1_uc010abp.3_Missense_Mutation_p.D273N|CCNA1_uc001uvs.4_Missense_Mutation_p.D316N|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	317					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TATCACCGATGATACATACAC	0.383000														45			25		0	0	0.000720815	0	0
PROKR2	128674	broad.mit.edu	37	20	5283124	5283124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:5283124C>T	uc010zqw.2	-	1	725	c.717G>A	c.(715-717)atG>atA	p.M239I	PROKR2_uc010zqx.2_Missense_Mutation_p.M239I|PROKR2_uc010zqy.2_Missense_Mutation_p.M239I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	239						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGCACAGGGTCATGGTGACCA	0.582000										HNSCC(71;0.22)				36			40		0	0	0.00148497	0	0
JAM2	58494	broad.mit.edu	37	21	27074551	27074551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:27074551C>T	uc002ylp.1	+	5	1212	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	JAM2_uc011ace.1_Missense_Mutation_p.R223C|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R187C	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	223	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGTTGGATATCGCAGGTGTCC	0.398000														23			6		0	0	0.000157383	0	0
METTL2B	55798	broad.mit.edu	37	7	128120732	128120732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:128120732C>T	uc003vnf.3	+	3	627	c.590C>T	c.(589-591)cCa>cTa	p.P197L	METTL2B_uc003vng.3_Missense_Mutation_p.P132L|METTL2B_uc011kop.2_Missense_Mutation_p.P61L	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	197							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACAGTCTTTCCAATTTTACAA	0.393000														96			17		0	0	0.00178596	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901634	2901634	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:2901634G>A	uc010ckd.3	+	13	1254	c.1164G>A	c.(1162-1164)caG>caA	p.Q388Q	RAP1GAP2_uc010cke.3_Silent_p.Q373Q	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	388	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCGTCGTGCAGGTCGAGACCC	0.537000														49			48		0	0	0.000781405	0	0
GPR98	84059	broad.mit.edu	37	5	89979463	89979463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:89979463C>T	uc003kju.3	+	27	5821	c.5725C>T	c.(5725-5727)Cct>Tct	p.P1909S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1909					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGACTCTGATCCTGATGGTGA	0.413000														7			4		0	0	0.00024832	0	0
CAMK1	8536	broad.mit.edu	37	3	9799267	9799267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:9799267C>T	uc003bst.3	-	11	1254	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Nonsense_Mutation_p.W166*	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	357					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTGCCCGGCTCCACGCAGCAG	0.687000														21			23		0	0	0.00047179	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255646	140255646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140255646C>T	uc003lic.2	+	0	716	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.R197W	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	212	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAGTTCTTCGGAAGTTATT	0.348000														76			33		0	0	0.000339439	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960324	33960324	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:33960324T>A	uc001bxj.4	+	7	2547	c.2380T>A	c.(2380-2382)Tat>Aat	p.Y794N	ZSCAN20_uc009vui.3_Missense_Mutation_p.Y793N	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	794					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAAAAGCCCTATAAATGTGG	0.448000														21			72		0	0	0.000781405	0	0
KDM5A	5927	broad.mit.edu	37	12	416948	416948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:416948G>A	uc001qif.1	-	22	3965	c.3602C>T	c.(3601-3603)tCc>tTc	p.S1201F		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1201					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTGCCAGCTGGATCCTTTTTT	0.463000			T	NUP98	AML									12			21		0	0	0.000295444	0	0
NES	10763	broad.mit.edu	37	1	156639485	156639485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:156639485C>T	uc001fpq.3	-	3	4628	c.4495G>A	c.(4495-4497)Gag>Aag	p.E1499K	NES_uc021pbh.1_Missense_Mutation_p.E417K	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1499	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACTCTTCCTCTGAGCCAGAA	0.612000														34			27		0	0	0.00058488	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401203	47401203	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:47401203C>T	uc001cqp.4	-	4	678	c.627G>A	c.(625-627)caG>caA	p.Q209Q	CYP4A11_uc001cqq.2_Silent_p.Q209Q|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	209					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACCTGTCCACCTGGATGCTGC	0.582000														7			38		0	0	0.000680045	0	0
PHF2P1	266695	broad.mit.edu	37	13	19622217	19622217	+	RNA	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:19622217C>T	uc001umb.1	-	9		c.3594G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		TGCCTAGTTTCAACCTCTTTT	0.542000														50			61		0	0	0.000781405	0	0
NSDHL	50814	broad.mit.edu	37	X	152037581	152037581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:152037581G>A	uc004fgt.1	+	8	1304	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	NSDHL_uc004fgs.1_Missense_Mutation_p.G348D	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	348					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AAGGCCATGGGCTACCAGCCA	0.597000														34			23		0	0	0.000375601	0	0
SLC26A3	1811	broad.mit.edu	37	7	107415259	107415259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:107415259C>T	uc003ver.2	-	15	1947	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	SLC26A3_uc003ves.2_Missense_Mutation_p.R544Q	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	579	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CTGCAGTTTTCGGATTTTCCT	0.408000														14			36		0	0	0.00111076	0	0
SMC1B	27127	broad.mit.edu	37	22	45802514	45802514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:45802514G>A	uc003bgc.3	-	3	494	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	SMC1B_uc003bgd.3_Missense_Mutation_p.P148S|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	148					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTTTCTTTGGGTTTCTTCACT	0.328000														40			31		0	0	0.000814825	0	0
TET1	80312	broad.mit.edu	37	10	70404931	70404931	+	Silent	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:70404931T>C	uc001jok.4	+	3	2950	c.2445T>C	c.(2443-2445)caT>caC	p.H815H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	815					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTGTGATCATCTCAAGGGGA	0.388000														22			49		0	0	0.000781405	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73169642	73169642	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:73169642T>A	uc003hgk.2	-	16	2453	c.2416A>T	c.(2416-2418)Att>Ttt	p.I806F	ADAMTS3_uc003hgl.3_Missense_Mutation_p.I147F	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	806	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCAAAACAATAACAGGATCA	0.368000														11			14		0	0	0.000219431	0	0
PIGO	84720	broad.mit.edu	37	9	35091877	35091877	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:35091877C>A	uc003zwd.3	-	6	2403	c.2007G>T	c.(2005-2007)tgG>tgT	p.W669C	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.W232C	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	669					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGCTCCATACCACAAATTCT	0.587000														5			23		0.000295444	0.00192665	0.000295444	1	0
GRIA1	2890	broad.mit.edu	37	5	153077630	153077630	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:153077630G>A	uc011dcy.2	+	8	1218	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	GRIA1_uc003lva.4_Silent_p.K387K|GRIA1_uc003luy.4_Silent_p.K387K|GRIA1_uc003luz.4_Silent_p.K292K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.K307K|GRIA1_uc011dcx.2_Silent_p.K318K|GRIA1_uc011dcz.2_Silent_p.K397K|GRIA1_uc010jia.1_Silent_p.K367K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	387					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGATGATAAGTTTGTCCCTG	0.502000														3			11		0	0	0.000308642	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529150	5529150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:5529150G>A	uc021qcw.1	-	0	1639	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.P547S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	547								p.M546I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTAGGCAAGGCATGAACCAG	0.567000														22			14		0	0	0.000219431	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:82125774G>A	uc003hmh.2	-	0	441	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_uc011cch.1_Missense_Mutation_p.S143F	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000														66			43		0	0	0.000781405	0	0
TFE3	7030	broad.mit.edu	37	X	48896774	48896774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:48896774C>T	uc004dmb.3	-	2	630	c.392G>A	c.(391-393)cGt>cAt	p.R131H	TFE3_uc004dmc.3_Missense_Mutation_p.R26H|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	131					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CCGACGCTCACGCCTCTCCTG	0.667000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									8			6		0	0	8.12818e-05	0	0
RUVBL2	10856	broad.mit.edu	37	19	49510598	49510599	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:49510598_49510599CC>TT	uc002plr.1	+	5	448_449	c.435_436CC>TT	c.(433-438)atccag>atTTag	p.Q146*	RUVBL2_uc010yab.2_Nonsense_Mutation_p.Q146*|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Nonsense_Mutation_p.Q101*	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	146					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TGGTGGAGATCCAGATTGATCG	0.574000														22			30		0	0	6.4e-05	0	0
SLC22A23	63027	broad.mit.edu	37	6	3287256	3287256	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:3287256G>A	uc003mvm.3	-	6	1383	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	AK096219_uc003mvi.1_Non-coding_Transcript|SLC22A23_uc003mvn.3_Silent_p.L180L|SLC22A23_uc003mvo.3_Silent_p.L180L|SLC22A23_uc003mvp.1_Non-coding_Transcript|SLC22A23_uc010jnn.3_Silent_p.L461L|SLC22A23_uc003mvq.1_Non-coding_Transcript	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	461					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AGTTCTCCAGGAGCGGCACCT	0.632000														46			13		0	0	0.000422831	0	0
OR4A5	81318	broad.mit.edu	37	11	51412063	51412063	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:51412063G>A	uc001nhi.2	-	0	386	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F111L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCACCAGAAGGAAGACCTCAG	0.453000														5			4		0	0	0.00024832	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807066	45807066	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:45807066C>T	uc011bai.2	-	7	1390	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	SLC6A20_uc003cow.3_Silent_p.K72K|SLC6A20_uc011baj.2_Silent_p.K385K	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	422					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGGAGATGATCTTGCTGTCTG	0.627000														7			16		0	0	0.000308642	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754675	94754675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:94754675C>T	uc001yct.3	-	2	1406	c.940G>A	c.(940-942)Gac>Aac	p.D314N	SERPINA10_uc001ycu.4_Missense_Mutation_p.D314N	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	314					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTCAGGTAGTCTTCAAGGGCG	0.488000														11			33		0	0	0.000814825	0	0
ZP4	57829	broad.mit.edu	37	1	238051726	238051726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:238051726C>T	uc001hym.3	-	3	772	c.485G>A	c.(484-486)gGa>gAa	p.G162E	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	162	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTCACAGTCTCCTCGAGAGAT	0.507000														12			53		0	0	0.000781405	0	0
EPPK1	83481	broad.mit.edu	37	8	144940456	144940456	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:144940456G>A	uc003zaa.1	-	0	6979	c.6966C>T	c.(6964-6966)ttC>ttT	p.F2322F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2322						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGCCTGGAAGAGGGAGA	0.701000														244			8		0	0	0.000274275	0	0
DRP2	1821	broad.mit.edu	37	X	100496794	100496794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:100496794C>T	uc004egz.2	+	6	1066	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	DRP2_uc011mrh.1_Missense_Mutation_p.L155F	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	233					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTGGAGCAGCTCTTGGAGAT	0.562000														19			10		0	0	0.000673444	0	0
TMC5	79838	broad.mit.edu	37	16	19452005	19452005	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:19452005C>T	uc002dgc.4	+	2	1394	c.645C>T	c.(643-645)aaC>aaT	p.N215N	TMC5_uc010vaq.2_Silent_p.N215N|TMC5_uc002dgb.4_Silent_p.N215N|TMC5_uc010var.2_Silent_p.N215N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	215						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCAACCTAACTCTCCACCCT	0.458000														26			20		0	0	0.00188189	0	0
AK310441	0	broad.mit.edu	37	1	148889678	148889678	+	RNA	SNP	C	T	T	rs4950650		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:148889678C>T	uc009wkv.1	+	6		c.765C>T								Homo sapiens cDNA, FLJ17483.																		ACCCTATATGCCTGCGTCTAA	0.398000														48			12		0	0	0.00136819	0	0
CDCP1	64866	broad.mit.edu	37	3	45127476	45127476	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:45127476A>C	uc003com.3	-	8	2300	c.2165T>G	c.(2164-2166)tTt>tGt	p.F722C		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	722						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCCTTTCTGAAACTTTTTTGG	0.473000														112			143		0	0	0.000781405	0	0
OR6T1	219874	broad.mit.edu	37	11	123813896	123813896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:123813896G>A	uc010sab.2	-	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217Y(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGGCATAGGAAACTGAGGT	0.542000														9			16		0	0	0.000422831	0	0
CHD3	1107	broad.mit.edu	37	17	7810332	7810332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:7810332C>T	uc002gjd.2	+	29	4828	c.4826C>T	c.(4825-4827)cCc>cTc	p.P1609L	CHD3_uc002gje.2_Missense_Mutation_p.P1550L|CHD3_uc002gjf.2_Missense_Mutation_p.P1550L|CHD3_uc002gjh.2_Missense_Mutation_p.P126L|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1550	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCAACAGTCCCTGCACCTCT	0.562000														174			51		0	0	0.000781405	0	0
NID1	4811	broad.mit.edu	37	1	236187465	236187465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:236187465C>T	uc001hxo.3	-	8	2135	c.2033G>A	c.(2032-2034)gGg>gAg	p.G678E	NID1_uc009xgd.3_Missense_Mutation_p.G678E	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	678	EGF-like 2.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGTGTCACACCCATGAGTGCC	0.577000														23			23		0	0	0.000375601	0	0
FAM107A	11170	broad.mit.edu	37	3	58555568	58555568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:58555568C>T	uc003dko.3	-	2	729	c.113G>A	c.(112-114)aGg>aAg	p.R38K	FAM107A_uc003dkm.3_Missense_Mutation_p.R7K|FAM107A_uc003dkn.3_Missense_Mutation_p.R7K|FAM107A_uc010hnm.3_Missense_Mutation_p.R35K|FAM107A_uc003dkp.1_Missense_Mutation_p.R7K	NM_007177	NP_009108	O95990	F107A_HUMAN	Homo sapiens family with sequence similarity 107, member A (FAM107A), transcript variant 1, mRNA.	7					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TGCCCGCTCCCTCTGGATCTC	0.592000														36			30		0	0	0.000692331	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203664	140203664	+	Silent	SNP	C	T	T	rs149846106		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140203664C>T	uc003lhl.2	+	0	2304	c.2304C>T	c.(2302-2304)ctC>ctT	p.L768L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.L768L|PCDHAC2_uc003lhj.1_Silent_p.L768L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	806					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGACCTCATGGCCTTCA	0.522000														40			14		0	0	0.000566183	0	0
TEX15	56154	broad.mit.edu	37	8	30704622	30704622	+	Silent	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:30704622A>G	uc003xil.3	-	0	1912	c.1912T>C	c.(1912-1914)Tta>Cta	p.L638L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	638										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTTTTACTAACAAACCAAAA	0.323000														36			9		0	0	0.000442599	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146119	31146119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:31146119G>A	uc003tca.2	+	15	1517	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.E438K|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.E437K|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.E389K|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.E438K	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	410					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGTACAAGCGGAGATCAAGCG	0.617000														21			36		0	0	0.00148497	0	0
abParts	0	broad.mit.edu	37	14	107062360	107062360	+	RNA	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:107062360A>G	uc021ser.1	-	150		c.6626T>C								Parts of antibodies, mostly variable regions.																		GACAGCGCAGATGAGGGACAG	0.612000														42			5		0	0	8.12818e-05	0	0
STYX	6815	broad.mit.edu	37	14	53223298	53223298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:53223298C>T	uc010tqy.2	+	5	334	c.272C>T	c.(271-273)cCa>cTa	p.P91L	STYX_uc001xaa.3_Missense_Mutation_p.P91L	NM_001130701	NP_660294	Q8WUJ0	STYX_HUMAN	Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA.	91					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					GCAGATAATCCAGTTGAAAAT	0.254000														11			32		0	0	0.000953801	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864330	6864330	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:6864330G>T	uc003gjr.4	+	6	2684	c.2221G>T	c.(2221-2223)Gat>Tat	p.D741Y	KIAA0232_uc003gjq.4_Missense_Mutation_p.D741Y	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	741							ATP binding	p.E740K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAATGCCGAAGATATTAATTA	0.338000														25			6		5.9392e-07	3.88224e-06	0.00116845	1	0
MIR520A	574467	broad.mit.edu	37	19	54194157	54194157	+	RNA	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:54194157G>A	uc021uzs.1	+	0		c.23G>A								Homo sapiens microRNA 520a (MIR520A), microRNA.																		CCCTCCAGAGGGAAGTACTTT	0.423000														90			28		0	0	0.000409698	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347901	38347901	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:38347901C>T	uc003cib.2	+	0	457	c.384C>T	c.(382-384)ttC>ttT	p.F128F	SLC22A14_uc010hhc.1_Silent_p.F128F|SLC22A14_uc003cia.2_Silent_p.F128F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	128						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATGGCAGTTTCCTGACATGCT	0.517000														74			74		0	0	0.000781405	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171824	57171824	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:57171824G>A	uc001cyk.4	+	7	1424	c.1353G>A	c.(1351-1353)gtG>gtA	p.V451V		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	451					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GCAATTACGTGAAAATGAGCT	0.338000														21			29		0	0	0.001512	0	0
DSCAM	1826	broad.mit.edu	37	21	42080452	42080452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:42080452C>T	uc002yyq.1	-	1	741	c.289G>A	c.(289-291)Gat>Aat	p.D97N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAAGTATTATCATGGATTAAG	0.473000														41			30		0	0	0.001512	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377343	55377343	+	Missense_Mutation	SNP	C	T	T	rs138402445		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:55377343C>T	uc002qhl.4	+	6	1147	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KIR3DL2_uc002qho.4_Missense_Mutation_p.R362C|KIR3DL2_uc010esh.3_Missense_Mutation_p.R345C			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	362					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tctcctTTATCGCTGGTGCTC	0.532000														24			16		0	0	0.00074312	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126608	32126608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:32126608G>A	uc003jhp.1	-	3	892	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	203					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTGGTGAGGGGATGTGTTGTC	0.443000														52			17		0	0	0.00121646	0	0
C16orf78	123970	broad.mit.edu	37	16	49407878	49407878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:49407878G>A	uc002efr.3	+	0	71	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	10										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGACCTGAAGGATTTAATGCC	0.532000														24			25		0	0	0.000720815	0	0
KIAA1217	56243	broad.mit.edu	37	10	24817015	24817015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:24817015G>A	uc001iru.4	+	13	3452	c.3049G>A	c.(3049-3051)Gga>Aga	p.G1017R	KIAA1217_uc001irs.3_Missense_Mutation_p.G937R|KIAA1217_uc001irt.4_Missense_Mutation_p.G982R|KIAA1217_uc010qcy.2_Missense_Mutation_p.G982R|KIAA1217_uc010qcz.2_Missense_Mutation_p.G982R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G700R|KIAA1217_uc001irz.3_Missense_Mutation_p.G700R|KIAA1217_uc001irx.3_Missense_Mutation_p.G700R|KIAA1217_uc001iry.3_Missense_Mutation_p.G700R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1017					embryonic skeletal system development	cytoplasm		p.R1016R(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTGCCAAGGGGAGATGCCCC	0.512000														9			34		0	0	0.000491102	0	0
NEK4	6787	broad.mit.edu	37	3	52802597	52802597	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:52802597G>A	uc003dfq.4	-	1	320	c.117C>T	c.(115-117)ctC>ctT	p.L39L	NEK4_uc011bej.2_Intron|NEK4_uc003dfr.3_Silent_p.L39L	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	39	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGGCATTTCGGAGGTTCAGTT	0.448000														71			71		0	0	0.000781405	0	0
OPRM1	4988	broad.mit.edu	37	6	154412478	154412478	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:154412478C>T	uc011efe.2	+	4	1837	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	OPRM1_uc011efd.2_Silent_p.F245F|OPRM1_uc011efc.1_Silent_p.F264F|OPRM1_uc003qpn.2_Silent_p.F345F|OPRM1_uc003qpo.1_Silent_p.F345F|OPRM1_uc011eff.1_Silent_p.F345F|OPRM1_uc011efg.1_Silent_p.F345F|OPRM1_uc011efi.2_Silent_p.F345F|OPRM1_uc011efh.1_Silent_p.F345F|OPRM1_uc003qpq.1_Silent_p.F345F|OPRM1_uc003qpr.2_Silent_p.F345F|OPRM1_uc003qpt.1_Silent_p.F345F|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.F245F|OPRM1_uc003qpu.2_Silent_p.F245F	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	345					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATGAAAACTTCAAACGATGCT	0.458000														7			19		0	0	0.000958276	0	0
RAD9A	5883	broad.mit.edu	37	11	67163818	67163819	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:67163818_67163819GG>AA	uc001okr.3	+	8	912_913	c.819_820GG>AA	c.(817-822)caggac>caAAac	p.D274N	RAD9A_uc021qmg.1_Missense_Mutation_p.D198N	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	274	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CGCACTCCCAGGACCTGGGCTC	0.639000								Other conserved DNA damage response genes						65			62		0	0	6.4e-05	0	0
UPP1	7378	broad.mit.edu	37	7	48146546	48146546	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:48146546C>T	uc003toj.3	+	7	1042	c.513C>T	c.(511-513)gtC>gtT	p.V171V	UPP1_uc003tok.3_Silent_p.V171V|UPP1_uc003tol.3_Silent_p.V171V|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Silent_p.V34V	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	171					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AGCAGATTGTCCTGGGGAAGC	0.542000														118			28		0	0	0.00127121	0	0
FHL3	2275	broad.mit.edu	37	1	38463446	38463446	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:38463446A>G	uc001cck.3	-	4	777	c.598T>C	c.(598-600)Ttc>Ctc	p.F200L	FHL3_uc001ccm.3_Missense_Mutation_p.F92L|FHL3_uc009vvl.2_3'UTR	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	200	LIM zinc-binding 3.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGGGAGGTGAACTGCTGCCCT	0.582000														13			30		0	0	0.00178596	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031506	52031506	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:52031506C>T	uc002pwy.3	-	6	1221	c.1013_splice	c.e6-1	p.W338_splice	SIGLEC6_uc002pwz.3_Splice_Site_p.W322_splice|SIGLEC6_uc010ydb.2_Splice_Site_p.W286_splice|SIGLEC6_uc010ydc.2_Splice_Site_p.W349_splice|SIGLEC6_uc002pxa.3_Intron|SIGLEC6_uc010eoz.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	338					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTTCTGGTTTCCCTATAATTT	0.498000														24			18		0	0	0.00121646	0	0
HCK	3055	broad.mit.edu	37	20	30662496	30662496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:30662496G>A	uc002wxh.3	+	4	637	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	HCK_uc010gdy.3_Missense_Mutation_p.A114T|HCK_uc021wbv.1_Missense_Mutation_p.A113T|HCK_uc002wxi.3_Missense_Mutation_p.A112T	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	134	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A133S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAACTATGTCGCCCGCGTTGA	0.547000														104			33		0	0	0.000814825	0	0
PATZ1	23598	broad.mit.edu	37	22	31740335	31740335	+	Silent	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:31740335A>G	uc003akq.3	-	0	1915	c.1254T>C	c.(1252-1254)tgT>tgC	p.C418C	PATZ1_uc003akp.3_Silent_p.C418C|PATZ1_uc003akr.3_Silent_p.C418C|PATZ1_uc003aks.3_Silent_p.C418C|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	418					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGCCTTTCCCACAGCTCTGGC	0.577000														44			12		0	0	0.000219431	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726520	25726520	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:25726520A>T	uc003nfc.3	-	0	271	c.236T>A	c.(235-237)aTt>aAt	p.I79N	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	79					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R78H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCGGGGAATAATGCGAGTTTT	0.532000														44			74		0	0	0.000781405	0	0
TRIM9	114088	broad.mit.edu	37	14	51560982	51560982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:51560982C>T	uc001wyx.4	-	0	1441	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	TRIM9_uc001wyy.2_Missense_Mutation_p.V226I|TRIM9_uc001wyz.4_Missense_Mutation_p.V226I	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	226					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CAGGTGGAGACCTTGCGTGGG	0.677000														9			21		0	0	0.00152264	0	0
GRIK2	2898	broad.mit.edu	37	6	102372574	102372574	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:102372574T>C	uc003pqp.4	+	11	2140	c.1847T>C	c.(1846-1848)gTt>gCt	p.V616A	GRIK2_uc010kcw.3_Missense_Mutation_p.V616A|GRIK2_uc003pqo.4_Missense_Mutation_p.V616A|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	616					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGTTTGGAGTTGGAGCTCTC	0.473000														4			6		0	0	8.12818e-05	0	0
KLHL13	90293	broad.mit.edu	37	X	117053493	117053493	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:117053493G>A	uc011mtp.2	-	4	703	c.570C>T	c.(568-570)ctC>ctT	p.L190L	KLHL13_uc004eqk.3_Silent_p.L136L|KLHL13_uc004eql.3_Silent_p.L187L|KLHL13_uc011mtn.2_Silent_p.L27L|KLHL13_uc011mto.2_Silent_p.L181L|KLHL13_uc011mtq.2_Silent_p.L171L|KLHL13_uc004eqm.3_Silent_p.L145L|KLHL13_uc022cde.1_Silent_p.L171L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	187					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCCCAGATATGAGAAACACTT	0.413000														80			57		0	0	0.000781405	0	0
MYH13	8735	broad.mit.edu	37	17	10219099	10219099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:10219099C>T	uc002gmk.1	-	28	3985	c.3895G>A	c.(3895-3897)Gag>Aag	p.E1299K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1299					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCAGAGACTCCTTCTCTTCC	0.547000														27			21		0	0	0.00121646	0	0
THBS2	7058	broad.mit.edu	37	6	169640626	169640626	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:169640626G>C	uc003qwt.3	-	6	1201	c.953C>G	c.(952-954)tCa>tGa	p.S318*		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	318	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCAGCAAGCTGACATGTTCCT	0.498000														17			21		0	0	0.00047179	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869034	140869034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140869034C>T	uc003lla.2	+	0	227	c.227C>T	c.(226-228)tCc>tTc	p.S76F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.S76F	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTATTTTTCCCTGAGCTTG	0.552000														46			45		0	0	0.000781405	0	0
OR2J3	442186	broad.mit.edu	37	6	29080273	29080273	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:29080273C>T	uc011dll.2	+	0	606	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AGCTGACCCTCATGATCACAA	0.463000														31			21		0	0	0.00188189	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556157	45556157	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:45556157C>T	uc001zva.2	+	5	590	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	175					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGCAGCTGATCCCCTTTGCAG	0.502000														8			25		0	0	0.00047179	0	0
BCL9L	283149	broad.mit.edu	37	11	118769362	118769362	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:118769362A>G	uc001pug.3	-	7	5227	c.4262T>C	c.(4261-4263)aTg>aCg	p.M1421T	BCL9L_uc009zal.3_Missense_Mutation_p.M1416T	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1421					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGAGGGGACATGACCCCCTG	0.642000														18			19		0	0	0.00188189	0	0
NELL2	4753	broad.mit.edu	37	12	44913970	44913970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:44913970C>T	uc010skz.1	-	19	2493	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	NELL2_uc001rof.3_Missense_Mutation_p.E739K|NELL2_uc001rog.2_Missense_Mutation_p.E740K|NELL2_uc001roh.2_Missense_Mutation_p.E740K|NELL2_uc009zkd.2_Missense_Mutation_p.E692K|NELL2_uc010sla.1_Missense_Mutation_p.E763K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	740	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AATTCACACTCCACATCTGGG	0.557000														0			10		0	0	0.000673444	0	0
JAM2	58494	broad.mit.edu	37	21	27071055	27071055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:27071055G>A	uc002ylp.1	+	4	1006	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	JAM2_uc011ace.1_Missense_Mutation_p.R154Q|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R118Q	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	154	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTAGAGCTACGATGTCAAGAC	0.448000														16			13		0	0	0.000308642	0	0
TGM7	116179	broad.mit.edu	37	15	43577045	43577045	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:43577045T>G	uc001zrf.1	-	6	976	c.971A>C	c.(970-972)gAg>gCg	p.E324A		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	324					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGACAGCATCTCGGCATTTCG	0.483000														29			90		0	0	0.000781405	0	0
COL1A1	1277	broad.mit.edu	37	17	48266125	48266125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:48266125C>T	uc002iqm.3	-	41	3203	c.3077G>A	c.(3076-3078)cGa>cAa	p.R1026Q		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1026	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGAACCGTCTCGTCCAGGGGA	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							32			27		0	0	0.00127121	0	0
TRPV6	55503	broad.mit.edu	37	7	142569731	142569731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:142569731C>T	uc003wbx.2	-	14	2136	c.1907G>A	c.(1906-1908)aGg>aAg	p.R636K	TRPV6_uc003wbw.1_Missense_Mutation_p.R422K|TRPV6_uc010lou.1_Missense_Mutation_p.R507K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	636					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGATCTTGCCTGTCTTCCAC	0.547000														40			92		0	0	0.000781405	0	0
TECTA	7007	broad.mit.edu	37	11	121016263	121016263	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:121016263G>A	uc010rzo.2	+	11	3544	c.3544_splice	c.e11-1	p.V1182_splice		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1182	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCTCTTACAGGTCAACAGTG	0.498000														194			71		0	0	0.000781405	0	0
AP1B1	162	broad.mit.edu	37	22	29750755	29750755	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:29750755C>T	uc003afj.3	-	6	1009	c.822G>A	c.(820-822)ttG>ttA	p.L274L	AP1B1_uc003afl.3_Silent_p.L274L|AP1B1_uc003afi.3_Silent_p.L274L	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	274					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGTAGTAGTCCAAGTCCTTAG	0.582000														43			17		0	0	0.000958276	0	0
EVC	2121	broad.mit.edu	37	4	5747008	5747008	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:5747008C>T	uc003gil.1	+	6	1063	c.879C>T	c.(877-879)taC>taT	p.Y293Y	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	293					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTCTGAGTACATCACCCTGG	0.428000														24			27		0	0	0.00127121	0	0
NLRP11	204801	broad.mit.edu	37	19	56321567	56321567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:56321567C>T	uc010ygf.2	-	4	1120	c.409G>A	c.(409-411)Gat>Aat	p.D137N	NLRP11_uc002qlz.3_Missense_Mutation_p.D38N|NLRP11_uc002qmb.3_Missense_Mutation_p.D38N|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	137							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTGGTAGAATCATAGGCTAAT	0.363000														16			8		0	0	0.000442599	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870784	15870784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:15870784C>T	uc002yju.1	-	6	980	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	SAMSN1_uc010gky.1_Missense_Mutation_p.E132K|SAMSN1_uc002yjv.1_Missense_Mutation_p.E368K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	300	SAM.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		AGGAAGTTTTCAGCAGCTGAT	0.338000														48			16		0	0	0.000958276	0	0
DNAH8	1769	broad.mit.edu	37	6	38828393	38828393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:38828393C>T	uc021yzh.1	+	42	6228	c.6119C>T	c.(6118-6120)cCa>cTa	p.P2040L	DNAH8_uc003ooe.2_Missense_Mutation_p.P1823L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTATCACTCCATTAACAGAT	0.284000														74			11		0	0	0.00136819	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963906	73963906	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:73963906C>T	uc004eby.3	-	2	1103	c.486G>A	c.(484-486)ggG>ggA	p.G162G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	162					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAGACTGATCCCTGGCTCAG	0.448000														25			7		0	0	8.12818e-05	0	0
CACNA1C	775	broad.mit.edu	37	12	2693745	2693745	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:2693745G>A	uc009zdu.1	+	15	2614	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K	CACNA1C_uc001qkc.2_Silent_p.K767K|CACNA1C_uc001qjz.2_Silent_p.K767K|CACNA1C_uc001qkd.2_Silent_p.K767K|CACNA1C_uc001qke.2_Silent_p.K767K|CACNA1C_uc001qkf.2_Silent_p.K767K|CACNA1C_uc009zdw.1_Silent_p.K767K|CACNA1C_uc001qkg.2_Silent_p.K767K|CACNA1C_uc001qkh.2_Silent_p.K767K|CACNA1C_uc001qkl.2_Silent_p.K767K|CACNA1C_uc001qkj.2_Silent_p.K767K|CACNA1C_uc001qkk.2_Silent_p.K767K|CACNA1C_uc001qkn.2_Silent_p.K767K|CACNA1C_uc001qkm.2_Silent_p.K767K|CACNA1C_uc001qko.2_Silent_p.K767K|CACNA1C_uc001qkp.2_Silent_p.K767K|CACNA1C_uc001qkq.2_Silent_p.K767K|CACNA1C_uc001qku.2_Silent_p.K767K|CACNA1C_uc001qkr.2_Silent_p.K767K|CACNA1C_uc001qks.2_Silent_p.K767K|CACNA1C_uc001qkt.2_Silent_p.K767K|CACNA1C_uc009zdv.1_Silent_p.K764K|CACNA1C_uc001qkb.2_Silent_p.K767K|CACNA1C_uc001qka.1_Silent_p.K302K|CACNA1C_uc001qki.1_Silent_p.K503K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	767					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGCCCaaaaggaggaggaag	0.517000														14			31		0	0	0.000339439	0	0
PTCRA	171558	broad.mit.edu	37	6	42890785	42890785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:42890785C>T	uc021yzp.1	+	1	160	c.79C>T	c.(79-81)Cct>Tct	p.P27S	PTCRA_uc011duz.1_Silent_p.F37F|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.3_Intron|PTCRA_uc003osx.3_Missense_Mutation_p.P27S|PTCRA_uc010jxz.3_Intron	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	27						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CACACCCTTTCCTTCTCTGGC	0.587000														72			34		0	0	0.000692331	0	0
FSCN1	6624	broad.mit.edu	37	7	5643196	5643196	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:5643196G>C	uc003sou.3	+	2	1191	c.1059G>C	c.(1057-1059)aaG>aaC	p.K353N	FSCN1_uc003sov.3_Missense_Mutation_p.K75N	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	353					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CCAATGGCAAGTTTGTGACCT	0.622000														119			16		0	0	0.000422831	0	0
NLRC3	197358	broad.mit.edu	37	16	3614281	3614281	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:3614281G>A	uc010btn.3	-	4	1068	c.657C>T	c.(655-657)gaC>gaT	p.D219D		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	219	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATCCAAGCCGTCCAGGATCA	0.637000														10			5		0	0	0.000602214	0	0
DPPA2	151871	broad.mit.edu	37	3	109019282	109019282	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:109019282C>T	uc003dxo.3	-	8	1102	c.855_splice	c.e8-1	p.R285_splice		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	285						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCTTATTCCTGTAAGGCA	0.343000														84			32		0	0	0.000814825	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987748	154987748	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:154987748C>T	uc001fgj.4	+	4	999	c.714C>T	c.(712-714)ccC>ccT	p.P238P	ZBTB7B_uc009wpa.3_Silent_p.P204P|ZBTB7B_uc001fgk.4_Silent_p.P204P|ZBTB7B_uc010peq.2_Silent_p.P238P|ZBTB7B_uc001fgl.4_Silent_p.P204P	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	204					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCGCAAGCCCCGGAAAGCTT	0.652000														20			18		0	0	0.000295444	0	0
GAD1	2571	broad.mit.edu	37	2	171705804	171705804	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:171705804G>A	uc002ugi.3	+	11	1550	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*	GAD1_uc010fqc.3_5'UTR	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	376					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGGCTGCCTGGGGAGGTGGGC	0.522000														5			19		0	0	0.00188189	0	0
FGD2	221472	broad.mit.edu	37	6	36982814	36982814	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:36982814G>A	uc010jwp.1	+	8	1200	c.1029_splice	c.e8+1	p.L343_splice	FGD2_uc003ong.2_Splice_Site_p.L65_splice|FGD2_uc011dtv.1_Splice_Site|FGD2_uc003oni.1_Splice_Site_p.L149_splice	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	343	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCTTTTCTTGGTAAGAGGGT	0.617000														29			21		0	0	0.00047179	0	0
TDP2	51567	broad.mit.edu	37	6	24653343	24653343	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:24653343G>A	uc003nej.3	-	5	700	c.675C>T	c.(673-675)tcC>tcT	p.S225S	TDP2_uc010jpu.1_Silent_p.S225S	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	225					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTCCAAATGGGATGTCATAA	0.403000								Direct reversal of damage						338			63		0	0	0.000781405	0	0
TP63	8626	broad.mit.edu	37	3	189455644	189455644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:189455644G>A	uc003fry.2	+	1	267	c.178G>A	c.(178-180)Gat>Aat	p.D60N	TP63_uc003frx.2_Missense_Mutation_p.D60N|TP63_uc003frz.2_Missense_Mutation_p.D60N|TP63_uc010hzc.1_Missense_Mutation_p.D60N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	60	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCATATCTGGGATTTTCTGGA	0.388000										HNSCC(45;0.13)				25			7		0	0	0.000157383	0	0
FAM9A	171482	broad.mit.edu	37	X	8768137	8768137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:8768137C>T	uc022bsk.1	-	1	212	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	FAM9A_uc004csg.3_Missense_Mutation_p.G26R	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	26						nucleolus		p.Q25K(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TTCGTGGCCCCCTGGGCGGCC	0.632000														31			18		0	0	0.00188189	0	0
MYL9	10398	broad.mit.edu	37	20	35173374	35173374	+	Silent	SNP	C	T	T	rs150788040	by1000genomes	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:35173374C>T	uc002xfl.1	+	1	181	c.87C>T	c.(85-87)tcC>tcT	p.S29S	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Silent_p.S29S	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	29	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TTGACCAGTCCCAGATCCAGG	0.552000														47			20		0	0	0.00121646	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751618	33751618	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:33751618G>A	uc003jia.1	-	2	688	c.525C>T	c.(523-525)ttC>ttT	p.F175F	ADAMTS12_uc010iuq.1_Silent_p.F175F|ADAMTS12_uc003jib.1_Silent_p.F175F	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	175					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.F174V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGGTTCAATGAAAAAGTCTC	0.418000										HNSCC(64;0.19)				22			23		0	0	0.000720815	0	0
LILRB5	10990	broad.mit.edu	37	19	54759385	54759385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:54759385C>T	uc010yer.1	-	4	800	c.689G>A	c.(688-690)aGc>aAc	p.S230N	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.S239N|LILRB5_uc002qez.3_Missense_Mutation_p.S139N|LILRB5_uc002qex.3_Missense_Mutation_p.S239N|LILRB5_uc002qfa.1_Missense_Mutation_p.S129N|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	239	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGTCAGGCTGCCTCCGCG	0.617000														34			13		0	0	0.000308642	0	0
GDA	9615	broad.mit.edu	37	9	74828861	74828861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:74828861C>T	uc004air.3	+	4	741	c.532C>T	c.(532-534)Cca>Tca	p.P178S	GDA_uc011lse.2_Missense_Mutation_p.P104S|GDA_uc004aiq.3_Missense_Mutation_p.P178S|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P104S|GDA_uc004ais.3_Missense_Mutation_p.P136S|GDA_uc004ait.1_Missense_Mutation_p.P104S	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	178					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGACACTTTTCCAGAATACAA	0.398000														10			24		0	0	0.00178596	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806419	97806419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:97806419C>T	uc011bgs.2	+	0	403	c.403C>T	c.(403-405)Cca>Tca	p.P135S		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTGCTTTATCCAGTGATGAT	0.423000														132			45		0	0	0.000781405	0	0
GORAB	92344	broad.mit.edu	37	1	170508353	170508353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:170508353C>T	uc001gha.2	+	1	166	c.139C>T	c.(139-141)Cca>Tca	p.P47S	GORAB_uc009wvw.2_Silent_p.I109I|GORAB_uc001ggz.4_Missense_Mutation_p.P47S|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	47						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TTACATAGATCCATTTGAACC	0.363000														7			29		0	0	0.001512	0	0
PPYR1	5540	broad.mit.edu	37	10	47086993	47086993	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:47086993G>A	uc001jee.3	+	2	629	c.210G>A	c.(208-210)aaG>aaA	p.K70K	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.K70K|PPYR1_uc021ppu.1_Silent_p.K70K	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	70					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGAGGCAGAAGGAGAAAGCCA	0.567000														67			34		0	0	0.000953801	0	0
PROS1	5627	broad.mit.edu	37	3	93611809	93611809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:93611809C>T	uc003drb.4	-	9	1464	c.1123G>A	c.(1123-1125)Ggt>Agt	p.G375S	PROS1_uc010hoo.3_Missense_Mutation_p.G244S|PROS1_uc003dqz.4_Missense_Mutation_p.G244S	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	375	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			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)	ATAACATCACCTCCAGTTGTG	0.358000														25			18		0	0	0.000295444	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324265	136324265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:136324265C>T	uc003lbo.3	-	6	965	c.774G>A	c.(772-774)atG>atA	p.M258I	SPOCK1_uc003lbp.3_Missense_Mutation_p.M258I	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	258					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTCATAGTTCATGTCCAACT	0.498000														39			11		0	0	0.000673444	0	0
SORBS1	10580	broad.mit.edu	37	10	97096854	97096854	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:97096854G>A	uc001kkp.3	-	27	3108	c.3063C>T	c.(3061-3063)ctC>ctT	p.L1021L	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Silent_p.L975L|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1021					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTGACAAGGCGAGGTGGTCAG	0.607000														10			21		0	0	0.00188189	0	0
SPINT2	10653	broad.mit.edu	37	19	38779819	38779819	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:38779819T>C	uc002ohr.2	+	3	814	c.379T>C	c.(379-381)Ttc>Ctc	p.F127L	SPINT2_uc002ohs.2_Missense_Mutation_p.F70L	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	127					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCGATATGTTCAACTATGA	0.557000														64			26		0	0	0.00106085	0	0
FAM81B	153643	broad.mit.edu	37	5	94727130	94727130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:94727130G>A	uc003kla.1	+	0	83	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	FAM81B_uc010jbe.1_5'Flank	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	13										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGCTTCCTCAGAAAAAAGAAA	0.373000														37			18		0	0	0.00074312	0	0
PDE4B	5142	broad.mit.edu	37	1	66713297	66713297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:66713297C>T	uc001dcn.3	+	3	627	c.436C>T	c.(436-438)Cca>Tca	p.P146S	PDE4B_uc009war.3_Missense_Mutation_p.P54S|PDE4B_uc001dco.3_Missense_Mutation_p.P146S|PDE4B_uc001dcp.3_Missense_Mutation_p.P131S	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	146					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGACTTGTCACCAAAGGCGAT	0.517000														10			34		0	0	0.000814825	0	0
KIAA0556	23247	broad.mit.edu	37	16	27692825	27692825	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:27692825T>C	uc002dow.3	+	7	938	c.914T>C	c.(913-915)tTc>tCc	p.F305S	KIAA0556_uc002dox.1_Missense_Mutation_p.F213S	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	305										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCTGCTGTATTCCCAGACCAG	0.567000														82			51		0	0	0.000781405	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888839	51888839	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:51888839G>A	uc001rys.1	+	20	3058	c.2880G>A	c.(2878-2880)ttG>ttA	p.L960L	SLC4A8_uc001rym.3_Silent_p.L907L|SLC4A8_uc001ryn.3_Silent_p.L907L|SLC4A8_uc001ryo.2_Silent_p.L907L|SLC4A8_uc010snj.2_Silent_p.L987L|SLC4A8_uc001ryr.3_Silent_p.L960L	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	960					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCATCCAGTTGACCTGTCTCG	0.483000														16			32		0	0	0.000692331	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955651	18955651	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:18955651G>A	uc001mpg.3	-	0	899	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	227					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCAGGCCACAGAGGAGGAAGA	0.488000														24			10		0	0	0.000442599	0	0
AZGP1	563	broad.mit.edu	37	7	99564768	99564768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:99564768C>T	uc003ush.3	-	3	847	c.755G>A	c.(754-756)gGa>gAa	p.G252E		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	252	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	p.R251W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAGAACATCTCCCCGTAACTC	0.582000														44			8		0	0	0.000673444	0	0
SCN5A	6331	broad.mit.edu	37	3	38591868	38591868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:38591868C>T	uc021wvo.1	-	26	6047	c.5995G>A	c.(5995-5997)Gaa>Aaa	p.E1999K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1966K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1945K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1981K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1998K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1999K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1811K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1865K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1999					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGAGATCTTCACTGTGGCTG	0.592000														74			33		0	0	0.00128727	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296465	39296465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:39296465G>A	uc010cxk.2	-	0	275	c.275C>T	c.(274-276)cCc>cTc	p.P92L		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	88	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCACTGGGGTCTGCAGCA	0.657000														42			11		0	0	0.000978159	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	G	G	rs60608267	by1000genomes	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:132547093A>G	uc001ujn.3	+	46	8333	c.8181A>G	c.(8179-8181)caA>caG	p.Q2727Q	EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2763	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(18)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000														46			4		0	0	0.00024832	0	0
FOXD4	2298	broad.mit.edu	37	9	117497	117498	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:117497_117498CC>TT	uc003zfz.3	-	0	920_921	c.622_623GG>AA	c.(622-624)gga>AAa	p.G208K		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	208	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CAGGTGGGCTCCCGGGGTCGGT	0.698000														40			52		0	0	6.4e-05	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602382	48602382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:48602382C>T	uc010wmr.2	+	12	2071	c.1909C>T	c.(1909-1911)Ccg>Tcg	p.P637S	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	600					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAGAAATCCTCCGGTGAGGCC	0.662000														35			37		0	0	0.00170553	0	0
EPHA2	1969	broad.mit.edu	37	1	16464803	16464804	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:16464803_16464804CC>TT	uc001aya.2	-	3	1100_1101	c.945_946GG>AA	c.(943-948)cgggca>cgAAca	p.A316T	EPHA2_uc010oca.2_Missense_Mutation_p.A316T	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	316	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCCTGAGGTGCCCGGAAGAAGC	0.634000														2			9		0	0	6.4e-05	0	0
LOC441601	441601	broad.mit.edu	37	11	50252703	50252703	+	RNA	SNP	A	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:50252703A>G	uc001nhd.3	-	2		c.493T>C								Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA.																		AGTATGAACAACACTGCACCC	0.398000														58			23		0	0	0.00047179	0	0
PEG3	5178	broad.mit.edu	37	19	57327355	57327355	+	Missense_Mutation	SNP	G	A	A	rs143073381		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:57327355G>A	uc002qnu.2	-	6	2806	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R790C|PEG3_uc002qnv.2_Missense_Mutation_p.R819C|PEG3_uc002qnw.2_Missense_Mutation_p.R695C|PEG3_uc002qnx.2_Missense_Mutation_p.R693C|PEG3_uc010etr.2_Missense_Mutation_p.R819C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	819					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R819C(3)|p.R819H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCCAGCACGAACTCTCTGA	0.458000														46			10		0	0	0.000442599	0	0
OTOF	9381	broad.mit.edu	37	2	26712547	26712547	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:26712547G>A	uc002rhk.3	-	10	1087	c.960_splice	c.e10+1	p.S320_splice		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	320	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACTCACCGAAATCTTGAT	0.567000														7			28		0	0	0.000339439	0	0
LRP12	29967	broad.mit.edu	37	8	105503038	105503038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:105503038G>A	uc003yma.3	-	6	2570	c.2443C>T	c.(2443-2445)Cct>Tct	p.P815S	LRP12_uc003ymb.3_Missense_Mutation_p.P796S|LRP12_uc003ylz.3_Missense_Mutation_p.P221S	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	815					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTACTCCAGGATTTGTTGCA	0.458000														37			7		0	0	0.000157383	0	0
SCMH1	22955	broad.mit.edu	37	1	41540948	41540948	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:41540948G>A	uc001cgo.3	-	8	1260	c.891C>T	c.(889-891)tcC>tcT	p.S297S	SCMH1_uc010ojr.2_Silent_p.S139S|SCMH1_uc001cgp.3_Silent_p.S236S|SCMH1_uc001cgr.3_Silent_p.S236S|SCMH1_uc001cgq.3_Silent_p.S250S|SCMH1_uc001cgs.3_Silent_p.S307S|SCMH1_uc001cgt.3_Silent_p.S236S|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	297					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CAGCTGTCTTGGATGGGGCAG	0.507000														27			85		0	0	0.000781405	0	0
TAGAP	117289	broad.mit.edu	37	6	159462447	159462447	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:159462447T>C	uc003qrz.3	-	5	748	c.416A>G	c.(415-417)aAc>aGc	p.N139S	TAGAP_uc011eft.2_Missense_Mutation_p.N76S|TAGAP_uc003qsa.3_5'UTR|TAGAP_uc003qsb.3_Missense_Mutation_p.N139S	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	139	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATCCCCAGAGTTGAGCTCCTC	0.537000														10			17		0	0	0.000566183	0	0
RLIM	51132	broad.mit.edu	37	X	73812706	73812706	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:73812706C>T	uc004ebu.3	-	4	734	c.444G>A	c.(442-444)ggG>ggA	p.G148G	RLIM_uc004ebw.3_Silent_p.G148G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	148					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.G148R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATTTTGGCTCCCATTATTAC	0.418000														91			61		0	0	0.000781405	0	0
ZEB2	9839	broad.mit.edu	37	2	145157015	145157015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:145157015G>A	uc002tvu.3	-	7	2261	c.1739C>T	c.(1738-1740)cCa>cTa	p.P580L	ZEB2_uc010zbm.2_Missense_Mutation_p.P556L|ZEB2_uc002tvv.3_Missense_Mutation_p.P574L|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P609L	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	580						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCATGAAAATGGAGTGGATAT	0.393000														17			46		0	0	0.000781405	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19511354	19511354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:19511354C>T	uc001reb.3	+	20	2941	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S	PLEKHA5_uc010sie.2_Missense_Mutation_p.P1106S|PLEKHA5_uc001rea.3_Missense_Mutation_p.P1003S|PLEKHA5_uc009zin.3_Missense_Mutation_p.P703S|PLEKHA5_uc010sig.2_Missense_Mutation_p.P927S|PLEKHA5_uc010sih.1_Missense_Mutation_p.P900S|PLEKHA5_uc021qvy.1_Missense_Mutation_p.P934S|PLEKHA5_uc001rec.1_Missense_Mutation_p.P754S|PLEKHA5_uc009zio.3_Missense_Mutation_p.P211S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	945							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGGGATAATCCATTTAGGAC	0.363000														8			24		0	0	0.00127121	0	0
CPA6	57094	broad.mit.edu	37	8	68536417	68536417	+	Silent	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:68536417T>C	uc003xxq.4	-	1	442	c.186A>G	c.(184-186)caA>caG	p.Q62Q	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Silent_p.Q62Q	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	62					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTACCTTAAGTTGATAGGATA	0.323000														31			13		0	0	0.000308642	0	0
PHKB	5257	broad.mit.edu	37	16	47644739	47644739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:47644739G>A	uc002eev.4	+	13	1418	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	PHKB_uc002eeu.4_Missense_Mutation_p.D449N	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	456					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTTTCAGCTGATGAACTTAT	0.363000														11			6		0	0	8.12818e-05	0	0
C2CD2L	9854	broad.mit.edu	37	11	118981290	118981290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:118981290C>T	uc001pvn.3	+	2	829	c.470C>T	c.(469-471)tCt>tTt	p.S157F	C2CD2L_uc001pvo.3_Missense_Mutation_p.S157F	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	157						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TGCCAGCTCTCTGCTGAGGAG	0.612000														8			8		0	0	0.000274275	0	0
HIF3A	64344	broad.mit.edu	37	19	46811951	46811951	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:46811951G>A	uc002peh.3	+	4	511	c.480G>A	c.(478-480)acG>acA	p.T160T	HIF3A_uc002pef.2_Silent_p.T160T|HIF3A_uc002peg.4_Silent_p.T160T|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.T104T|HIF3A_uc002pej.2_Silent_p.T91T|HIF3A_uc010xxy.2_Silent_p.T91T|HIF3A_uc002pel.3_Silent_p.T158T|HIF3A_uc010xxz.2_Silent_p.T109T	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	160					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)		AGGCCCCCACGGAGCGGTGCT	0.711000														8			8		0	0	0.000274275	0	0
FMO3	2328	broad.mit.edu	37	1	171083218	171083218	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:171083218A>C	uc001ghi.3	+	6	1010	c.899A>C	c.(898-900)aAg>aCg	p.K300T	FMO3_uc001ghh.3_Missense_Mutation_p.K300T|FMO3_uc010pmb.2_Missense_Mutation_p.K280T|FMO3_uc010pmc.2_Missense_Mutation_p.K237T	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	300					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGTCCGTAAAGCCTAACGTG	0.438000														4			7		0	0	0.000274275	0	0
TLR4	7099	broad.mit.edu	37	9	120474949	120474949	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:120474949C>T	uc004bjz.3	+	2	834	c.543C>T	c.(541-543)gaC>gaT	p.D181D	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Silent_p.D141D	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	181					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGCACTTGGACCTTTCCAGCA	0.383000														6			14		0	0	0.000219431	0	0
NOS3	4846	broad.mit.edu	37	7	150697640	150697640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:150697640G>A	uc003wif.3	+	9	1482	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	NOS3_uc011kuy.2_Missense_Mutation_p.D190N|NOS3_uc011kva.2_Missense_Mutation_p.D396N|NOS3_uc011kuz.2_Missense_Mutation_p.D396N|NOS3_uc011kvb.2_Missense_Mutation_p.D396N	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	396	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTGTGGAAAGACAAGGCAGC	0.602000														58			8		0	0	0.000274275	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11253759	11253759	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:11253759G>A	uc001ase.3	+	2	839	c.600G>A	c.(598-600)ggG>ggA	p.G200G	MTOR_uc001asd.3_Intron	NM_021146	NP_066969	O43827	ANGL7_HUMAN	Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA.	200	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCATCCGTGGGGACTTCTGGC	0.602000														7			29		0	0	0.000339439	0	0
MYH7B	57644	broad.mit.edu	37	20	33584489	33584489	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:33584489A>T	uc002xbi.2	+	29	3637	c.3320A>T	c.(3319-3321)gAc>gTc	p.D1107V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1065						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGAGGGTGACCTGAAGCTG	0.627000														26			7		0	0	0.000157383	0	0
RNF152	220441	broad.mit.edu	37	18	59483343	59483343	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:59483343G>A	uc002lih.1	-	1	766	c.354C>T	c.(352-354)ggC>ggT	p.G118G	RNF152_uc021ula.1_Silent_p.G118G	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	118					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GCAGGCGGCAGCCCATGTCTC	0.657000														10			27		0	0	0.00178596	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTTGAGGAACAGCACATCAG	0.438000														72			39		0	0	0.000509022	0	0
PGRMC1	10857	broad.mit.edu	37	X	118370369	118370369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:118370369G>A	uc004erb.3	+	0	159	c.43G>A	c.(43-45)Gat>Aat	p.D15N	PGRMC1_uc011mts.2_Missense_Mutation_p.D15N	NM_006667	NP_006658	O00264	PGRC1_HUMAN	Homo sapiens progesterone receptor membrane component 1 (PGRMC1), mRNA.	15						cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGACCCAAGCGATCTGGAGAG	0.617000														36			27		0	0	0.000339439	0	0
OR10X1	128367	broad.mit.edu	37	1	158549379	158549379	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:158549379T>C	uc010pin.2	-	0	311	c.311A>G	c.(310-312)aAg>aGg	p.K104R		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GCTTCTGTCCTTGGCCAGTAG	0.478000														9			13		0	0	0.00185496	0	0
OR1L8	138881	broad.mit.edu	37	9	125330655	125330655	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:125330655G>A	uc004bmp.1	-	0	102	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L33F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGTACACGATGAGGAAGA	0.498000														10			15		0	0	0.000219431	0	0
FMNL3	91010	broad.mit.edu	37	12	50044652	50044652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:50044652G>A	uc001ruv.1	-	16	2041	c.1807C>T	c.(1807-1809)Ctt>Ttt	p.L603F	FMNL3_uc001ruw.1_Missense_Mutation_p.L552F|FMNL3_uc001rut.1_Missense_Mutation_p.L169F|FMNL3_uc001ruu.1_Missense_Mutation_p.L453F	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	603	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AACTTATCAAGATCCAGGTCC	0.512000														7			34		0	0	0.000953801	0	0
PROKR2	128674	broad.mit.edu	37	20	5282770	5282770	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:5282770C>T	uc010zqw.2	-	1	1079	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	PROKR2_uc010zqx.2_Silent_p.R357R|PROKR2_uc010zqy.2_Silent_p.R357R	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	357						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACTTGCTCCCCCGCTGGGAGG	0.557000										HNSCC(71;0.22)				34			36		0	0	0.000491102	0	0
KRT12	3859	broad.mit.edu	37	17	39023211	39023211	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:39023211G>A	uc002hvk.2	-	0	252	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	76	Gly-rich.|Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CTCCTGCCATGGAACTTCCGG	0.612000														49			50		0	0	0.000781405	0	0
OR52M1	119772	broad.mit.edu	37	11	4566960	4566960	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:4566960C>T	uc010qyf.2	+	0	540	c.540C>T	c.(538-540)tcC>tcT	p.S180S		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCCACTCCTACTGTGAGC	0.527000														29			37		0	0	0.00128727	0	0
OR6X1	390260	broad.mit.edu	37	11	123624487	123624487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:123624487G>A	uc010rzy.2	-	0	740	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S247Y(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		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;0.0279)		GTAGAGCAGGGAGACAACTGT	0.468000														27			6		0	0	8.12818e-05	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671500	39671500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:39671500C>T	uc021wjc.1	+	0	317	c.317C>T	c.(316-318)cCc>cTc	p.P106L	KCNJ15_uc002ywv.3_Missense_Mutation_p.P106L|KCNJ15_uc002yww.3_Missense_Mutation_p.P106L|KCNJ15_uc002ywx.3_Missense_Mutation_p.P106L	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	106					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						AATCATACCCCCTGCATCATG	0.478000														54			23		0	0	0.00047179	0	0
RNF10	9921	broad.mit.edu	37	12	120990331	120990331	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:120990331C>T	uc001typ.4	+	2	867	c.384C>T	c.(382-384)agC>agT	p.S128S	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Silent_p.S34S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	128	Interaction with MEOX2.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGAGTTTAGCCCTGCCCAGT	0.453000														11			33		0	0	0.00128727	0	0
PLS3	5358	broad.mit.edu	37	X	114880811	114880811	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:114880811G>A	uc004eqe.3	+	12	1601	c.1467G>A	c.(1465-1467)ggG>ggA	p.G489G	PLS3_uc010nqg.3_Silent_p.G271G|PLS3_uc004eqd.3_Silent_p.G489G|PLS3_uc011mtf.2_Silent_p.G476G|PLS3_uc011mth.2_Silent_p.G444G|PLS3_uc011mtg.2_Silent_p.G462G|PLS3_uc011mti.2_Silent_p.G165G|PLS3_uc011mtj.2_Silent_p.G83G|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	489	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding	p.G489E(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TGAATGATGGGAACCAAACCC	0.423000														56			39		0	0	0.00148497	0	0
MUC16	94025	broad.mit.edu	37	19	9014552	9014552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:9014552C>T	uc002mkp.3	-	30	38627	c.38423G>A	c.(38422-38424)aGa>aAa	p.R12808K	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12810	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGACTGTTTCTGTCCAGGGT	0.552000														63			55		0	0	0.000781405	0	0
CPS1	1373	broad.mit.edu	37	2	211542674	211542674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:211542674C>T	uc010fur.3	+	38	4568	c.4486C>T	c.(4486-4488)Cac>Tac	p.H1496Y	CPS1_uc002vee.4_Missense_Mutation_p.H1490Y|CPS1_uc010fus.3_Missense_Mutation_p.H1039Y	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1490					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAGTCTTTTCCACTACAGGCA	0.448000														20			60		0	0	0.000781405	0	0
KCNK9	51305	broad.mit.edu	37	8	140631332	140631332	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:140631332G>C	uc003yvf.1	-	1	358	c.294C>G	c.(292-294)caC>caG	p.H98Q	KCNK9_uc003yvg.1_Missense_Mutation_p.H98Q|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	98						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.H98H(2)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CAGGTGCAGCGTGCCCATAAC	0.612000														25			6		0	0	8.12818e-05	0	0
OR2B2	81697	broad.mit.edu	37	6	27879876	27879876	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:27879876G>A	uc011dkw.2	-	0	299	c.222C>T	c.(220-222)acC>acT	p.T74T		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CTGTACTTGTGGTATAGCAAA	0.428000														46			18		0	0	0.00121646	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959560	61959560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:61959560G>A	uc001nsz.1	+	1	135	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_006552	NP_006543	O95968	SG1D1_HUMAN	Homo sapiens secretoglobin, family 1D, member 1 (SCGB1D1), mRNA.	30						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TCTTGGTTCTGAAATCACAGG	0.423000														15			26		0	0	0.001512	0	0
PMPCB	9512	broad.mit.edu	37	7	102937950	102937950	+	Missense_Mutation	SNP	G	A	A	rs1060201		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:102937950G>A	uc003vbk.1	+	0	78	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	PMPCB_uc010liu.1_Missense_Mutation_p.R15Q|PMPCB_uc003vbl.3_Missense_Mutation_p.R15Q|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	15					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGCGGCGCGGCGGCGGCTC	0.647000											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			89		0	0	0.000781405	0	0
TXNDC5	81567	broad.mit.edu	37	6	7904916	7904917	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:7904916_7904917GG>AA	uc003mxv.3	-	1	341_342	c.303_304CC>TT	c.(301-306)gacctg>gaTTtg	p.101_102DL>DL	TXNDC5_uc003mxw.3_Silent_p.58_59DL>DL|TXNDC5_uc010jnz.3_5'UTR|TXNDC5_uc010joa.2_5'UTR	NM_030810	NP_001139021	Q8NBS9	TXND5_HUMAN	Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum) (TXNDC5), transcript variant 1, mRNA.	101	Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTGTCTCCCAGGTCATTCCAAG	0.574000														68			15		0	0	6.4e-05	0	0
DNAH9	1770	broad.mit.edu	37	17	11872750	11872750	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:11872750G>C	uc002gne.3	+	68	13435	c.13367G>C	c.(13366-13368)cGg>cCg	p.R4456P	DNAH9_uc010coo.3_Missense_Mutation_p.R3674P|DNAH9_uc002gnf.3_Missense_Mutation_p.R768P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4456					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTAGTCAGCGGGGACCCACC	0.517000														12			12		0	0	0.00136819	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764262	109764262	+	RNA	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:109764262C>T	uc004eos.1	+	0		c.723C>T								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		TTGCCATTTTCGCTTTAGGAG	0.448000														18			15		0	0	0.000422831	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137188	32137188	+	Silent	SNP	C	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:32137188C>A	uc003oae.3	-	6	1052	c.717G>T	c.(715-717)acG>acT	p.T239T	EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Silent_p.T203T|AGPAT1_uc003oag.3_Silent_p.T129T|AGPAT1_uc003oah.3_Silent_p.T239T|AGPAT1_uc003oai.1_Silent_p.T239T|AGPAT1_uc011dpl.2_Silent_p.T127T	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	239					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.T239T(2)		central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCAGCCCTTCCGTGGGCACTG	0.637000														695			10		0.000673444	0.00437106	0.000673444	1	0
ZNF335	63925	broad.mit.edu	37	20	44589153	44589153	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:44589153G>A	uc002xqw.3	-	12	1917	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	ZNF335_uc010zxk.2_Silent_p.S443S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTTCTTAAAGGACTTTCCAC	0.617000														41			16		0	0	0.000308642	0	0
ELFN2	114794	broad.mit.edu	37	22	37771217	37771217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:37771217C>T	uc003asq.4	-	2	1144	c.358G>A	c.(358-360)Gag>Aag	p.E120K	ELFN2_uc021wph.1_Missense_Mutation_p.E120K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	120						cell surface|integral to membrane		p.E120K(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGCATGCCCTCCGTCAGGTTG	0.622000														62			20		0	0	0.00121646	0	0
SLC6A2	6530	broad.mit.edu	37	16	55727956	55727956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:55727956C>T	uc021tio.1	+	5	1004	c.953C>T	c.(952-954)tCc>tTc	p.S318F	SLC6A2_uc002eif.3_Missense_Mutation_p.S318F|SLC6A2_uc002eig.3_Missense_Mutation_p.S318F|SLC6A2_uc002eii.3_Missense_Mutation_p.S213F|SLC6A2_uc002eij.3_Missense_Mutation_p.S32F	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	318					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.S318fs*19(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATATTTTTTTCCTTGGGGGCT	0.438000														52			20		0	0	0.00047179	0	0
ZNF527	84503	broad.mit.edu	37	19	37879696	37879696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:37879696C>T	uc010efk.1	+	4	856	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	ZNF527_uc002ogf.3_Missense_Mutation_p.H217Y|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGAAAGTCATGATTTTTC	0.368000														54			20		0	0	0.000295444	0	0
ITGAE	3682	broad.mit.edu	37	17	3680914	3680914	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:3680914C>T	uc002fwo.4	-	1	174	c.75G>A	c.(73-75)cgG>cgA	p.R25R		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	25					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGAGCCAGGGCCGGGCCACAT	0.597000														56			23		0	0	0.000720815	0	0
DNAH9	1770	broad.mit.edu	37	17	11837243	11837243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:11837243G>A	uc002gne.3	+	64	12412	c.12344G>A	c.(12343-12345)gGa>gAa	p.G4115E	DNAH9_uc010coo.3_Missense_Mutation_p.G3333E|DNAH9_uc002gnf.3_Missense_Mutation_p.G427E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4115					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCATGTATGGAGGCCATATC	0.493000														40			25		0	0	0.00106085	0	0
DDX11L11	0	broad.mit.edu	37	12	92018	92018	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:92018T>C	uc010sdi.1	-	1	320	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GACTCCACACTCTCCTGGGTT	0.592000														3			3		0	0	6.4e-05	0	0
OR4C12	283093	broad.mit.edu	37	11	50003708	50003708	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:50003708G>A	uc010ria.2	-	0	364	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGCAGGATGATCTCAGTAG	0.458000														36			45		0	0	0.000781405	0	0
SLC4A10	57282	broad.mit.edu	37	2	162813650	162813650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:162813650G>A	uc002ubx.4	+	19	2877	c.2693G>A	c.(2692-2694)gGa>gAa	p.G898E	SLC4A10_uc010zcs.2_Missense_Mutation_p.G879E|SLC4A10_uc002uby.4_Missense_Mutation_p.G868E	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	898					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.T897N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAGCTCCAGGAGAACAACCC	0.458000														0			4		0	0	0.00116845	0	0
FOXH1	8928	broad.mit.edu	37	8	145699638	145699638	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:145699638A>T	uc003zdc.3	-	2	1660	c.1081T>A	c.(1081-1083)Tcc>Acc	p.S361T		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	361					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGCACCAGGAGAGCAGCCAG	0.662000														17			9		0	0	0.000442599	0	0
PTRH1	138428	broad.mit.edu	37	9	130476437	130476437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:130476437G>A	uc004bro.3	-	4	1907	c.587C>T	c.(586-588)aCc>aTc	p.T196I	PTRH1_uc004brm.3_Intron|PTRH1_uc010mxm.3_Missense_Mutation_p.P194S|PTRH1_uc011mah.2_Missense_Mutation_p.T196I|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) (PTRH1), mRNA.	196					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						GATCAGGTCGGTGGCTCGATC	0.662000														2			8		0	0	0.000274275	0	0
DSG1	1828	broad.mit.edu	37	18	28926126	28926126	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:28926126C>T	uc002kwp.3	+	13	2277	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	DSG1_uc010xbp.2_Silent_p.L48L|U6_uc021uin.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	689					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGAAGGAGGTCTGAATATGAA	0.428000														4			12		0	0	0.000219431	0	0
PAX6	5080	broad.mit.edu	37	11	31815095	31815095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:31815095G>A	uc009yjr.3	-	10	1392	c.923C>T	c.(922-924)tCc>tTc	p.S308F	PAX6_uc001mtd.4_Missense_Mutation_p.S308F|PAX6_uc001mte.4_Missense_Mutation_p.S308F|PAX6_uc001mtg.4_Missense_Mutation_p.S322F|PAX6_uc001mtf.4_Missense_Mutation_p.S308F|PAX6_uc001mth.4_Missense_Mutation_p.S308F|PAX6_uc021qfl.1_Missense_Mutation_p.S322F|PAX6_uc021qfm.1_Missense_Mutation_p.S322F|PAX6_uc021qfn.1_Missense_Mutation_p.S308F	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	308	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AGATGTGAAGGAGGAAACTGA	0.488000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					52			22		0	0	0.00152264	0	0
TRIM31	11074	broad.mit.edu	37	6	30079500	30079500	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:30079500G>A	uc003npg.1	-	2	548	c.438C>T	c.(436-438)atC>atT	p.I146I	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	146						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GCAAGACTTGGATCTGCTCTT	0.512000														72			172		0	0	0.000781405	0	0
UNC119B	84747	broad.mit.edu	37	12	121154827	121154827	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:121154827C>A	uc001tyz.3	+	3	1072	c.625C>A	c.(625-627)Cag>Aag	p.Q209K		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	209										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGAGTTTCCCCAGCTTTCGGA	0.473000														93			264		5.36533e-145	3.53218e-144	0.000781405	1	0
GON4L	54856	broad.mit.edu	37	1	155735878	155735878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:155735878G>A	uc001flz.2	-	20	3483	c.3386C>T	c.(3385-3387)cCc>cTc	p.P1129L	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1129L|GON4L_uc009wrh.1_Missense_Mutation_p.P1129L|GON4L_uc001fma.1_Missense_Mutation_p.P1129L|GON4L_uc001fmb.4_Missense_Mutation_p.P325L|GON4L_uc001fmc.3_Missense_Mutation_p.P1129L|GON4L_uc001fmd.4_Missense_Mutation_p.P1129L|GON4L_uc009wri.3_Missense_Mutation_p.P715L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1129					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTCATACAGGGAGAGGCCTT	0.527000														66			11		0	0	0.00185496	0	0
SLC9A6	10479	broad.mit.edu	37	X	135106572	135106572	+	Silent	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:135106572C>T	uc004ezk.3	+	11	1622	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	SLC9A6_uc011mvx.2_Silent_p.L464L|SLC9A6_uc004ezj.3_Silent_p.L484L	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	484					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCACGCTTCTGATTGTGTT	0.468000														65			24		0	0	0.000720815	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645996	51645996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:51645996C>T	uc002pvv.1	+	0	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_uc002pvw.1_Missense_Mutation_p.R124C|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.R124C	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	124					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(2)|p.R124H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATACTTCTTTCGTATGGAGAA	0.478000														59			27		0	0	0.000878237	0	0
ASB15	142685	broad.mit.edu	37	7	123264737	123264737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:123264737G>A	uc003vku.1	+	7	858	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	ASB15_uc003vkv.1_Missense_Mutation_p.R189Q|ASB15_uc003vkw.1_Missense_Mutation_p.R189Q	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	189					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AAGCAAGGCCGAAAAGATATC	0.512000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			19		0	0	0.00152264	0	0
TMC5	79838	broad.mit.edu	37	16	19492699	19492699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:19492699G>A	uc002dgc.4	+	14	3024	c.2275G>A	c.(2275-2277)Ggg>Agg	p.G759R	TMC5_uc010vaq.2_Missense_Mutation_p.G707R|TMC5_uc002dgb.4_Missense_Mutation_p.G759R|TMC5_uc010var.2_Missense_Mutation_p.G759R|TMC5_uc002dgd.1_Missense_Mutation_p.G513R|TMC5_uc002dge.4_Missense_Mutation_p.G513R|TMC5_uc002dgf.4_Missense_Mutation_p.G442R|TMC5_uc002dgg.4_Missense_Mutation_p.G400R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	759						integral to membrane		p.P758Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGAATCATTGGGATGCAACT	0.438000														28			17		0	0	0.000958276	0	0
GRK7	131890	broad.mit.edu	37	3	141535598	141535598	+	Silent	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:141535598G>A	uc011bnd.2	+	3	1452	c.1368G>A	c.(1366-1368)acG>acA	p.T456T		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	456	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTTTAAAACGATCAACTTTC	0.423000														54			17		0	0	0.000422831	0	0
C8orf47	203111	broad.mit.edu	37	8	99101579	99101579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:99101579G>A	uc003yih.1	+	1	482	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	112										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGGACTGGAGGAATCTGGGCC	0.582000														33			13		0	0	0.00185496	0	0
UNC45B	146862	broad.mit.edu	37	17	33504046	33504046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:33504046C>T	uc002hja.3	+	15	2139	c.2042C>T	c.(2041-2043)cCc>cTc	p.P681L	UNC45B_uc002hjb.3_Missense_Mutation_p.P679L|UNC45B_uc002hjc.3_Missense_Mutation_p.P679L|UNC45B_uc010cto.3_Missense_Mutation_p.P600L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	681					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCCTGATTCCCCTGGCTTTG	0.567000														31			47		0	0	0.000781405	0	0
MST1P2	11209	broad.mit.edu	37	1	16975890	16975891	+	RNA	INS	-	A	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:16975890_16975891insA	uc010och.2	+	10		c.1912_1913insA			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCCTCTCACGGGCTATGAGGTA	0.584													---	25	---	---	8	---					
FLG	2312	broad.mit.edu	37	1	152282785	152282785	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:152282785delC	uc001ezu.1	-	2	4613	c.4577delG	c.(4576-4578)ggafs	p.G1526fs		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1526	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGGTGT	0.572									Ichthyosis				---	98	---	---	287	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:42196333delT	uc003ose.2	-	17	3976	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													---	1169	---	---	7	---					
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	-	-	rs72369323		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:43970504_43970509delGCGGCG	uc003own.3	+	3	390_395	c.370_375delGCGGCG	c.(370-375)gcggcgdel	p.AA130del	AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772													---	7	---	---	5	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	CTC	CTC	rs67569765	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:72413723_72413724insCTC	uc003twk.2	+	10	3191_3192	c.3191_3192insCTC	c.(3190-3192)ttc>ttCTCc	p.1064_1065insS	POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1064	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													---	96	---	---	13	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	53	---	---	8	---					
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	-	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:39346425_39346427delGTG	uc021txf.1	+	0	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP4-1_uc010cxm.1_Intron	NM_001190460	NP_001177389	A8MXZ3	KRA91_HUMAN	Homo sapiens keratin associated protein 9-1 (KRTAP9-1), mRNA.	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													---	9	---	---	4	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	-	-	rs141441894	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													---	145	---	---	7	---					
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:17818550delA	uc022btm.1	-	0	1581	c.1581delT	c.(1579-1581)tttfs	p.F527fs	RAI2_uc004cyf.3_Frame_Shift_Del_p.F527fs|RAI2_uc004cyg.3_Frame_Shift_Del_p.F527fs|RAI2_uc011miy.2_Frame_Shift_Del_p.F477fs|RAI2_uc022btl.1_Frame_Shift_Del_p.F527fs|RAI2_uc004cyh.4_Frame_Shift_Del_p.F527fs|RAI2_uc010nfa.3_Frame_Shift_Del_p.F527fs	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	527					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333													---	1085	---	---	8	---					
BRCC3	79184	broad.mit.edu	37	X	154344998	154344998	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:154344998delG	uc004fna.3	+	9	876	c.768delG	c.(766-768)ctgfs	p.L256fs	BRCC3_uc004fnb.3_Frame_Shift_Del_p.L231fs|BRCC3_uc011mzy.2_Frame_Shift_Del_p.L232fs	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	256					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTACACATCTGGACTCAGTAA	0.398													---	4	---	---	2	---					
