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
DNAH9	1770	broad.mit.edu	37	17	11535956	11535956	+	Missense_Mutation	SNP	G	A	A	rs140374295	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:11535956G>A	uc002gne.3	+	7	1639	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	524	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCTTGACCGAAGATTGGGG	0.413000														22			29		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49173971	49173971	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:49173971G>A	uc002pkb.3	-	1	369	c.273C>T	c.(271-273)atC>atT	p.I91I	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.I91I	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	91						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CAGCAGACAGGATGAGGGCTG	0.662000														13			9		0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59148172	59148172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:59148172G>A	uc009wab.2	-	7	567	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	182					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TGAAGATTATGGCCGGTCTTC	0.333000														13			7		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174219	150174220	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:150174219_150174220GG>AA	uc003whj.3	+	4	1679_1680	c.1349_1350GG>AA	c.(1348-1350)ggg>gAA	p.G450E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	450						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCGGGACTGGGAAGAGTGCGA	0.550000														62			42		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183031	102183031	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:102183031G>A	uc003dvt.1	+	6	845	c.745G>A	c.(745-747)Gat>Aat	p.D249N	ZPLD1_uc003dvs.1_Missense_Mutation_p.D233N|ZPLD1_uc011bhg.1_Missense_Mutation_p.D233N	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	233	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGTTTTAATGGATTATTGCTA	0.318000														38			23		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188925	6188925	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:6188925C>T	uc001amb.2	-	22	3703	c.3592G>A	c.(3592-3594)Gag>Aag	p.E1198K	CHD5_uc001alz.2_Missense_Mutation_p.E55K|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1198					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGAGTTCCTCCGTGCCGAAC	0.652000														18			13		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97915750	97915750	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:97915750G>A	uc001drv.3	-	13	1907	c.1770C>T	c.(1768-1770)atC>atT	p.I590I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	590					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCCCCGGATGATTCTGGGGG	0.418000														27			16		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57604513	57604515	+	Missense_Mutation	DNP	GC	TA	TA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:57604513_57604515GC>TA	uc001snd.3	+	82	13233_13235	c.12767_12769GC>TA	c.(12766-12771)tgccgg>tTAgg	p.4256_4257CR>L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4256	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGCCCACGTGCCGGTGCCCCAC	0.660000														64			25		0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963846	66963846	+	Missense_Mutation	SNP	G	A	A	rs141686243		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:66963846G>A	uc003xvs.1	+	2	355	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	22	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E22K(4)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGCTCTATACGAAATTCTTGG	0.398000														33			35		0	0	1	0	0
MPP5	64398	broad.mit.edu	37	14	67768120	67768120	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:67768120G>A	uc001xjc.3	+	4	1057	c.591G>A	c.(589-591)ttG>ttA	p.L197L	MPP5_uc001xjd.3_Silent_p.L163L	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	Homo sapiens membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) (MPP5), mRNA.	197	Interaction with LIN7C (By similarity).|L27 2.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AAACTGTTTTGAAGCCAGTTC	0.333000														22			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719166	13719166	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13719166G>A	uc003jfd.2	-	71	12366	c.12324C>T	c.(12322-12324)ttC>ttT	p.F4108F	DNAH5_uc003jfc.2_Silent_p.F276F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4108	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCATCCATGAAATCAAGTC	0.443000									Kartagener syndrome					9			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414373	179414373	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179414373G>A	uc021vsy.1	-	286	84597	c.84372C>T	c.(84370-84372)ttC>ttT	p.F28124F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F21819F|TTN_uc021vta.1_Silent_p.F21752F|TTN_uc021vtb.1_Silent_p.F21627F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29051	Fibronectin type-III 105.						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)			CAGAAACACGGAATTGGTATT	0.413000														29			27		0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388009	104388009	+	Missense_Mutation	SNP	G	A	A	rs147175675	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:104388009G>A	uc003ylk.3	+	1	293	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	CTHRC1_uc011lhq.1_Missense_Mutation_p.R65Q	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	65	Collagen-like.					collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GTGCCTGGTCGAGACGGGAGC	0.498000														44			27		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48189006	48189006	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:48189006G>A	uc010slo.2	-	10	1440	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Silent_p.P378P|HDAC7_uc001rqk.4_Silent_p.P398P	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	376	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GCTCCAGGCGGGGCTGCATGG	0.647000														66			54		0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73321085	73321085	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:73321085G>C	uc010aen.1	+	9	1690	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	BORA_uc010thq.1_Missense_Mutation_p.E215Q|BORA_uc001viv.1_Missense_Mutation_p.E440Q|BORA_uc010thr.1_Missense_Mutation_p.E370Q	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	Homo sapiens bora, aurora kinase A activator (BORA), mRNA.	440					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										TGATCCTATAGAGATAGCAGA	0.408000														37			18		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164175	139164175	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:139164175G>A	uc003yuy.3	-	12	2714	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	FAM135B_uc003yux.3_Missense_Mutation_p.P749L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.P410L|FAM135B_uc003yvb.3_Missense_Mutation_p.P410L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	848										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTCCCTTTGGGGATGTCTAT	0.488000										HNSCC(54;0.14)				15			13		0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10062315	10062315	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:10062315C>T	uc004csx.4	+	6	849	c.651C>T	c.(649-651)atC>atT	p.I217I	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	217										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTGATATCATCGGGGAGGTAT	0.567000														0			38		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830189	61830189	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:61830189T>G	uc001jky.3	-	36	10788	c.10450A>C	c.(10450-10452)Agt>Cgt	p.S3484R	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3484	Poly-Ser.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATGAAGAACTTTTAGAAGGT	0.473000														18			26		0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452108	64452108	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:64452108A>G	uc011kdr.2	-	1	1891	c.1297T>C	c.(1297-1299)Tgg>Cgg	p.W433R	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.W433R	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	433						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gcccctgaccatttagctggc	0.507000														10			12		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764939	184764939	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:184764939C>T	uc001gra.3	-	13	2153	c.1959G>A	c.(1957-1959)gaG>gaA	p.E653E	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	653					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TAATCACCTGCTCAGTCCCAT	0.567000														49			18		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71825180	71825180	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:71825180C>T	uc004eax.4	-	24	3057	c.2756G>A	c.(2755-2757)cGa>cAa	p.R919Q	PHKA1_uc004eay.4_Missense_Mutation_p.R919Q|PHKA1_uc011mqi.2_Missense_Mutation_p.R860Q	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	919					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R919Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAGACCAATTCGAAGTCGAAA	0.403000														2			20		0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10631855	10631855	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:10631855G>A	uc002czx.3	-	3	440	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_001424	NP_001415	P54851	EMP2_HUMAN	Homo sapiens epithelial membrane protein 2 (EMP2), mRNA.	82					cell proliferation	integral to membrane		p.F82F(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCTGGAGCACGAAGATGAAGA	0.557000														60			35		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587886	204587886	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:204587886G>A	uc021phy.1	-	0	1235	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.P412L|LRRN2_uc001hbf.1_Missense_Mutation_p.P412L|LRRN2_uc009xbf.1_Missense_Mutation_p.P412L|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	412	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCCCGGAAGGGCACCTCACG	0.657000														39			20		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049388	70049388	+	Silent	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:70049388C>A	uc010kak.3	+	24	3727	c.3451C>A	c.(3451-3453)Cgg>Agg	p.R1151R	BAI3_uc003pev.4_Silent_p.R1151R|BAI3_uc011dxx.2_Silent_p.R357R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1151					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)				CTGCATTCTTCGGAGAGAGGT	0.373000														49			35		3.43241e-23	3.48868e-23	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30315398	30315398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:30315398C>T	uc009xle.2	-	2	3816	c.3679G>A	c.(3679-3681)Gca>Aca	p.A1227T	KIAA1462_uc001iux.3_Missense_Mutation_p.A1227T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A1089T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1227										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGAGCCTGCCACACTTGGG	0.483000														89			5		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170007497	170007497	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:170007497G>C	uc001ggv.3	-	4	722	c.451C>G	c.(451-453)Cgg>Ggg	p.R151G	KIFAP3_uc021pep.1_Missense_Mutation_p.R111G|KIFAP3_uc010ply.2_Missense_Mutation_p.R73G|KIFAP3_uc001ggw.2_Missense_Mutation_p.R107G	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	151					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.R151L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGAACCCCGAACTTTGTCA	0.328000														24			41		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153220911	153220911	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:153220911G>A	uc004fjp.3	-	16	3467	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	980					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAGAATGGACACAGGGAG	0.637000														1			24		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711345	20711345	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:20711345G>A	uc010tld.2	+	0	395	c.395G>A	c.(394-396)cGa>cAa	p.R132Q		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GCTTATGATCGATACCTGGCC	0.468000														18			23		0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975921	152975921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152975921C>T	uc021ozo.1	+	0	425	c.425C>T	c.(424-426)cCt>cTt	p.P142L	SPRR3_uc001fax.4_Missense_Mutation_p.P142L|SPRR3_uc001faz.4_Missense_Mutation_p.P142L|SPRR3_uc001fay.2_Missense_Mutation_p.P134L	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	142	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCAAAGTTCCTGTGCCAGGC	0.527000														19			27		0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:41962602G>C	uc004aca.4	-	2		c.907C>G								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373000														29			6		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565525	38565525	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38565525C>T	uc003cih.2	+	5	875	c.779C>T	c.(778-780)cCc>cTc	p.P260L	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_Missense_Mutation_p.P120L|EXOG_uc003cii.2_Missense_Mutation_p.P120L|EXOG_uc011ayq.1_Missense_Mutation_p.P210L|EXOG_uc003cij.2_Missense_Mutation_p.P120L|EXOG_uc010hhd.2_Missense_Mutation_p.P120L|EXOG_uc010hhe.2_Missense_Mutation_p.P120L|EXOG_uc003cik.2_Missense_Mutation_p.P120L	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	260						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGCTTCCAGCCCCAGTTAACT	0.493000														43			36		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70964852	70964852	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:70964852C>T	uc001swb.4	-	10	2700	c.2670G>A	c.(2668-2670)acG>acA	p.T890T	PTPRB_uc010sto.2_Silent_p.T890T|PTPRB_uc010stp.2_Silent_p.T800T|PTPRB_uc001swc.4_Silent_p.T1108T|PTPRB_uc001swa.4_Silent_p.T1020T|PTPRB_uc001swd.4_Silent_p.T1107T|PTPRB_uc009zrr.2_Silent_p.T987T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	890	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T890M(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCCCGCTAATCGTCAAGACAA	0.423000														17			9		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342338	29342338	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:29342338G>A	uc003nme.3	-	0	731	c.727C>T	c.(727-729)Cat>Tat	p.H243Y		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ACCATAAAATGGGAGGCACAA	0.463000														23			12		0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150905163	150905163	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:150905163C>T	uc003wjo.1	-	15	2010	c.1899G>A	c.(1897-1899)agG>agA	p.R633R		NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	0						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCTCATGGCCTTGGCAGAG	0.612000														28			24		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147096103	147096103	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:147096103G>A	uc001epq.3	+	9	4364	c.3624G>A	c.(3622-3624)ggG>ggA	p.G1208G	BCL9_uc010ozr.1_Silent_p.G1122G	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	1208	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGTCCTGGGGAACAGCATGC	0.587000			T	"""IGH@, IGL@"""	B-ALL									47			27		0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351826	123351826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:123351826G>A	uc001udl.3	-	3	798	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	232	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GTACGGCACGGCCTGTCCCGA	0.687000														5			4		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912607	77912607	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:77912607G>A	uc022bzi.1	-	0	1311	c.1311C>T	c.(1309-1311)gtC>gtT	p.V437V	ZCCHC5_uc004edc.1_Silent_p.V437V	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	437							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGTGCCAACGGACCCATTCAG	0.547000														1			20		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280205	32280205	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:32280205G>A	uc001bts.1	-	1	788	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	SPOCD1_uc001btu.3_Missense_Mutation_p.P244S|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	244					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCAACTTGGGGAGGGTCTCCC	0.617000														59			41		0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507955	144507955	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:144507955G>A	uc003qks.4	+	1	383	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	STX11_uc021zgk.1_Missense_Mutation_p.R64Q	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	64					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GACGTGAAGCGGCTGGGAAAG	0.622000									Familial Hemophagocytic Lymphohistiocytosis					10			9		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173466	5173466	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:5173466G>A	uc010qyy.2	-	0	134	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	45					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGCAAGGAATTTCCAAT	0.468000														2			26		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885772	39885772	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:39885772G>A	uc001zkh.3	+	18	3349	c.3170G>A	c.(3169-3171)gGa>gAa	p.G1057E	THBS1_uc010bbi.3_Missense_Mutation_p.G529E	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1057	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGGGCTCAGGGATACTCGGGC	0.572000														13			62		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529305	57529305	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:57529305T>C	uc011kdi.1	+	3	1250	c.1138T>C	c.(1138-1140)Tac>Cac	p.Y380H		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGAGAAACCCTACACTTGTGA	0.418000														16			17		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168810844	168810844	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:168810844C>T	uc011bpj.1	-	13	3469	c.3066G>A	c.(3064-3066)gcG>gcA	p.A1022A	MECOM_uc010hwk.1_Silent_p.A848A|MECOM_uc003ffj.3_Silent_p.A899A|MECOM_uc003ffi.3_Silent_p.A834A|MECOM_uc011bpi.1_Silent_p.A826A|MECOM_uc003ffn.3_Silent_p.A834A|MECOM_uc003ffk.2_Silent_p.A825A|MECOM_uc003ffl.2_Silent_p.A985A|MECOM_uc011bpk.1_Silent_p.A834A	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATCCAGAATCGCACCTGTAC	0.433000														35			19		0	0	1	0	0
RRP7B	91695	broad.mit.edu	37	22	42976321	42976321	+	RNA	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:42976321G>A	uc003bcs.3	-	1		c.128C>T			RRP7B_uc003bct.3_Non-coding_Transcript					Homo sapiens ribosomal RNA processing 7 homolog B (S. cerevisiae) (RRP7B), non-coding RNA.																		CTCACATAGAGGTAGTGAGAA	0.527000														7			6		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398140	111398140	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:111398140G>A	uc003iab.4	+	0	912	c.570G>A	c.(568-570)atG>atA	p.M190I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	190					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCCTGACCATGGAGTTCGCCG	0.517000														40			31		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676817	2676817	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:2676817C>T	uc009zdu.1	+	12	2065	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CACNA1C_uc001qkc.2_Silent_p.F584F|CACNA1C_uc001qjz.2_Silent_p.F584F|CACNA1C_uc001qkd.2_Silent_p.F584F|CACNA1C_uc001qke.2_Silent_p.F584F|CACNA1C_uc001qkf.2_Silent_p.F584F|CACNA1C_uc009zdw.1_Silent_p.F584F|CACNA1C_uc001qkg.2_Silent_p.F584F|CACNA1C_uc001qkh.2_Silent_p.F584F|CACNA1C_uc001qkl.2_Silent_p.F584F|CACNA1C_uc001qkj.2_Silent_p.F584F|CACNA1C_uc001qkk.2_Silent_p.F584F|CACNA1C_uc001qkn.2_Silent_p.F584F|CACNA1C_uc001qkm.2_Silent_p.F584F|CACNA1C_uc001qko.2_Silent_p.F584F|CACNA1C_uc001qkp.2_Silent_p.F584F|CACNA1C_uc001qkq.2_Silent_p.F584F|CACNA1C_uc001qku.2_Silent_p.F584F|CACNA1C_uc001qkr.2_Silent_p.F584F|CACNA1C_uc001qks.2_Silent_p.F584F|CACNA1C_uc001qkt.2_Silent_p.F584F|CACNA1C_uc009zdv.1_Silent_p.F581F|CACNA1C_uc001qkb.2_Silent_p.F584F|CACNA1C_uc001qka.1_Silent_p.F119F|CACNA1C_uc001qki.1_Silent_p.F320F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	584					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)	AGGCCTACTTCGTGTCCCTCT	0.607000														9			6		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1337436	1337436	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:1337436G>A	uc003boz.3	+	5	873	c.606G>A	c.(604-606)gaG>gaA	p.E202E	CNTN6_uc010hbo.2_Silent_p.E197E|CNTN6_uc011asj.2_Silent_p.E130E|CNTN6_uc003bpa.3_Silent_p.E202E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	202	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTAACAAAGAGGCCCAGAGAA	0.428000														13			17		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486813	131486813	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:131486813A>C	uc002trv.2	+	0	171	c.89A>C	c.(88-90)cAa>cCa	p.Q30P		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	30				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGCATGCCCCAAGCAGCCAGC	0.627000														51			33		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279878	152279878	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152279878G>A	uc001ezu.1	-	2	7520	c.7484C>T	c.(7483-7485)aCc>aTc	p.T2495I		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2495	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)			CTGGGATGTGGTGTGGCTGTG	0.547000									Ichthyosis					353			125		0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41146265	41146265	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:41146265C>T	uc001zna.3	+	5	1173	c.969C>T	c.(967-969)tcC>tcT	p.S323S	SPINT1_uc001znb.3_Silent_p.S307S|SPINT1_uc001znc.3_Silent_p.S307S|SPINT1_uc010ucs.2_Intron	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	323						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CAGGCCCCTCCATGGAAAGGC	0.602000														10			50		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468737	86468737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:86468737C>T	uc003uid.3	+	3	3006	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.P508L|GRM3_uc010leh.3_Missense_Mutation_p.P228L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	636					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATTGCCAAGCCATCACCAGTC	0.522000														106			77		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432305	20432305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:20432305C>T	uc001iqg.1	+	4	1260	c.623C>T	c.(622-624)cCc>cTc	p.P208L	PLXDC2_uc001iqh.1_Missense_Mutation_p.P159L|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	208						integral to membrane		p.P208L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AATTTCGATCCCAGTGTATCC	0.358000														40			22		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947814	165947814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:165947814G>A	uc002ucx.3	-	27	5341	c.4849C>T	c.(4849-4851)Cct>Tct	p.P1617S	SCN3A_uc010zcy.2_Missense_Mutation_p.P100S|SCN3A_uc002ucy.3_Missense_Mutation_p.P1568S|SCN3A_uc002ucz.3_Missense_Mutation_p.P1568S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1617						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AACAAGGTAGGGGACACAAAA	0.433000														37			28		0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898247	6898247	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:6898247C>T	uc010rat.2	+	0	392	c.369C>T	c.(367-369)cgC>cgT	p.R123R		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATATGACCGCTACGTGGCCA	0.542000														7			31		0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774273	14774273	+	Missense_Mutation	SNP	C	T	T	rs78327295		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:14774273C>T	uc021ved.1	+	0	170	c.170C>T	c.(169-171)gCc>gTc	p.A57V	FAM84A_uc002rbz.2_Missense_Mutation_p.A57V|AX747684_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.	57										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCGTGAAGGCCCCCCCGGGT	0.632000														12			11		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999404	72999404	+	Missense_Mutation	SNP	C	G	G	rs111787453	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:72999404C>G	uc002lly.3	+	1	2470	c.1907C>G	c.(1906-1908)cCg>cGg	p.P636R	TSHZ1_uc021uln.1_Missense_Mutation_p.P636R	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	681						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAAGATTTCCCGAAAACGGAG	0.557000														25			19		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802431	185802431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:185802431C>T	uc002uph.3	+	3	2902	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	770						intracellular	zinc ion binding	p.R770Q(2)|p.R770*(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGATTCTATCGAAAACGTAG	0.338000														27			16		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155698	155698	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:155698C>G	uc003fzt.4	+	3	1379	c.1223C>G	c.(1222-1224)gCa>gGa	p.A408G	ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript|ZNF718_uc003fzw.4_Missense_Mutation_p.Q188E	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAAGTGTTTGCAAACCTGCAT	0.363000														11			5		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811149	140811149	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:140811149G>A	uc021xsg.1	-	1	2193	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	481	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tgctgcATGAGTTTGGCCCTT	0.582000														7			6		0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57290244	57290244	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:57290244C>T	uc010zzs.1	+	11	1529	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	NPEPL1_uc010zzr.2_Silent_p.F430F|NPEPL1_uc010gjo.2_Silent_p.F450F|NPEPL1_uc002xzp.3_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	478					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCACAGGCTTCGGTGTGGCCC	0.672000														8			10		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904031	5904031	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:5904031G>A	uc002wmg.3	+	3	1547	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	CHGB_uc010zqz.2_Missense_Mutation_p.G97E	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	414						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTTGAGCCGGGAAAGGGACGC	0.532000														49			56		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272366	158272366	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:158272366C>T	uc002tzj.1	-	7	975	c.903G>A	c.(901-903)agG>agA	p.R301R	CYTIP_uc010zcl.1_Silent_p.R195R	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	301	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGCTCCGGTTCCTCCTTGAAG	0.547000														19			22		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241127	65241127	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:65241127C>A	uc001xht.3	-	22	5012	c.4961G>T	c.(4960-4962)gGc>gTc	p.G1654V	SPTB_uc001xhr.3_Missense_Mutation_p.G1654V|SPTB_uc001xhs.3_Missense_Mutation_p.G1654V|SPTB_uc001xhu.3_Missense_Mutation_p.G1654V|SPTB_uc010aqi.3_Missense_Mutation_p.G315V	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1654					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCAGGGTGGCCTGCAGACAG	0.642000														3			3		0.00024832	0.000249578	1	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361184	105361184	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:105361184C>T	uc003ylx.1	+	1	453	c.404C>T	c.(403-405)tCc>tTc	p.S135F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	135					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AAGAGCTTTTCCATACATTTT	0.393000														31			17		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84904618	84904618	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:84904618G>A	uc010kbp.3	-	9	1108	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	KIAA1009_uc003pkj.4_Silent_p.I261I|KIAA1009_uc003pkk.2_Silent_p.I337I|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	337					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CCATAGTAGAGATGTTTTTTG	0.289000														11			8		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53454293	53454293	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:53454293C>T	uc001sbp.3	+	18	2857	c.2722C>T	c.(2722-2724)Ccc>Tcc	p.P908S	TENC1_uc001sbl.3_Missense_Mutation_p.P784S|TENC1_uc001sbn.3_Missense_Mutation_p.P918S|TENC1_uc001sbq.3_Missense_Mutation_p.P306S|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Missense_Mutation_p.P403S	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	908	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GTTGTCTGGTCCCTCCACGCC	0.632000														26			20		0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6535057	6535057	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:6535057C>T	uc002mfh.2	+	2	783	c.745C>T	c.(745-747)Cct>Tct	p.P249S		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	249					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						AGCCGGACTCCCTTCACCGAG	0.632000														9			7		0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17517118	17517118	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:17517118G>A	uc003gpg.1	+	0	331	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	77						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GTGTGGGCTTGGGGGCCGCCA	0.488000														9			9		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464422	247464422	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:247464422G>A	uc009xgv.3	-	7	1308	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	ZNF496_uc001ico.3_Missense_Mutation_p.S388F	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	388					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTCCGGTGGGAGGCGGGGAG	0.632000														47			19		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117647515	117647515	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:117647515G>A	uc003pxp.1	-	32	5628	c.5429C>T	c.(5428-5430)tCc>tTc	p.S1810F	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1810	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S1810F(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTACTGCAGGATCCATTAAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									9			16		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228562329	228562329	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:228562329C>T	uc009xez.1	+	96	22583	c.22539C>T	c.(22537-22539)gcC>gcT	p.A7513A	OBSCN_uc001hsr.1_Silent_p.A2142A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7513	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCATCTCTGCCACCCTCAAGA	0.617000														34			68		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62733964	62733965	+	Missense_Mutation	DNP	GG	AA	AA	rs143575291		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:62733964_62733965GG>AA	uc001dah.4	-	4	2602_2603	c.2225_2226CC>TT	c.(2224-2226)gcc>gTT	p.A742V	KANK4_uc001dai.4_Missense_Mutation_p.A114V|KANK4_uc001dag.4_Missense_Mutation_p.A98V	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	742										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCACCTCTCGGCCTTGGAGTG	0.559000														20			11		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13911527	13911527	+	Missense_Mutation	SNP	C	T	T	rs141651575		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13911527C>T	uc003jfd.2	-	11	1654	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	538	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAACTCTTCGTAATCTTGG	0.343000									Kartagener syndrome					26			25		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:19995558G>A	uc002ktv.1	-	0	2321	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000														16			9		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49371646	49371646	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:49371646G>A	uc001jgi.3	-	27	3937	c.3606C>T	c.(3604-3606)atC>atT	p.I1202I	FRMPD2_uc001jgh.3_Silent_p.I1170I|FRMPD2_uc001jgj.3_Silent_p.I1171I|FRMPD2_uc001jgf.3_Silent_p.I213I|FRMPD2_uc001jgg.3_Silent_p.I154I|FRMPD2_uc001jgk.3_Silent_p.I154I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1202					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTTGATCCAGGATGGGGCTGG	0.527000														51			27		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48704093	48704093	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:48704093C>A	uc002irk.1	+	37	7487	c.7115C>A	c.(7114-7116)cCa>cAa	p.P2372Q	CACNA1G_uc002irj.1_Missense_Mutation_p.P2166Q|CACNA1G_uc002irl.1_Missense_Mutation_p.P2256Q|CACNA1G_uc002irm.1_Missense_Mutation_p.P2293Q|CACNA1G_uc002irn.1_Missense_Mutation_p.P2238Q|CACNA1G_uc002iro.1_Missense_Mutation_p.P2245Q|CACNA1G_uc002irp.1_Missense_Mutation_p.P2327Q|CACNA1G_uc002irq.1_Missense_Mutation_p.P2349Q|CACNA1G_uc002irr.1_Missense_Mutation_p.P2279Q|CACNA1G_uc002irs.1_Missense_Mutation_p.P2316Q|CACNA1G_uc002irt.1_Missense_Mutation_p.P2261Q|CACNA1G_uc002iru.1_Missense_Mutation_p.P2338Q|CACNA1G_uc002irv.1_Missense_Mutation_p.P2268Q|CACNA1G_uc002irw.1_Missense_Mutation_p.P2301Q|CACNA1G_uc002irx.1_Missense_Mutation_p.P2113Q|CACNA1G_uc002iry.1_Missense_Mutation_p.P2102Q|CACNA1G_uc002isg.1_Missense_Mutation_p.P2140Q|CACNA1G_uc002ish.1_Missense_Mutation_p.P2147Q|CACNA1G_uc002isi.1_Missense_Mutation_p.P2135Q|CACNA1G_uc002irz.1_Missense_Mutation_p.P2185Q|CACNA1G_uc002isa.1_Missense_Mutation_p.P2158Q|CACNA1G_uc002isd.1_Missense_Mutation_p.P2167Q|CACNA1G_uc002isb.1_Missense_Mutation_p.P2199Q|CACNA1G_uc002isc.1_Missense_Mutation_p.P2274Q|CACNA1G_uc002ise.1_Missense_Mutation_p.P2195Q|CACNA1G_uc002isf.1_Missense_Mutation_p.P2222Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2372					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTCTGACCCAGCAGACCTG	0.587000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			60		4.29146e-36	4.37526e-36	1	1	0
OR13D1	286365	broad.mit.edu	37	9	107457248	107457248	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:107457248C>T	uc011lvs.2	+	0	546	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GGTCCTGGATCATAGGCTGTC	0.463000														5			46		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123261	47123261	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:47123261A>G	uc002iom.3	+	12	1739	c.1405A>G	c.(1405-1407)Aga>Gga	p.R469G	IGF2BP1_uc010dbj.3_Missense_Mutation_p.R330G	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	469	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCAGGGAAGAATCTATGG	0.473000														14			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399759	179399759	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179399759C>A	uc021vsy.1	-	306	94104	c.93879G>T	c.(93877-93879)aaG>aaT	p.K31293N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K24988N|TTN_uc021vta.1_Missense_Mutation_p.K24921N|TTN_uc021vtb.1_Missense_Mutation_p.K24796N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32220	Fibronectin type-III 128.						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)			AAATTTCCTTCTTTACCAAAA	0.353000														24			14		1.49906e-05	1.50818e-05	1	1	0
ZNF678	339500	broad.mit.edu	37	1	227843230	227843230	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:227843230C>T	uc021pjy.1	+	3	1620	c.1444C>T	c.(1444-1446)Cat>Tat	p.H482Y	ZNF678_uc001hqw.2_Missense_Mutation_p.H427Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	482					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TAAGAGAATTCATACTGGAGA	0.368000														33			12		0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46135680	46135680	+	Silent	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:46135680A>G	uc002imz.4	+	5	1647	c.996A>G	c.(994-996)gcA>gcG	p.A332A	NFE2L1_uc002ina.4_Silent_p.A302A|NFE2L1_uc002inb.4_Silent_p.A302A|NFE2L1_uc010wle.2_Silent_p.A144A|NFE2L1_uc010wlf.2_Silent_p.A176A	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	332					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACATCAGCAAGTGAAATCC	0.567000														38			31		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577572	162577572	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:162577572G>A	uc003iqh.3	-	6	1238	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	FSTL5_uc003iqi.3_Silent_p.L267L|FSTL5_uc010iqv.3_Silent_p.L267L	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	268	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCACAGCTCAGAACAGCACTT	0.403000														25			15		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850753	50850753	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:50850753C>T	uc021vhh.1	-	5	1754	c.833_splice	c.e5-1	p.G278_splice	NRXN1_uc002rxb.4_Splice_Site|NRXN1_uc021vhg.1_Splice_Site_p.G311_splice|NRXN1_uc021vhi.1_Splice_Site_p.G307_splice|NRXN1_uc021vhj.1_Splice_Site_p.G274_splice|NRXN1_uc002rxc.1_Splice_Site	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	278					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCTTCTTTTCCTAGAGGAAA	0.363000														7			11		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816259	156816259	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:156816259C>T	uc021ygm.1	+	28	3405	c.3267C>T	c.(3265-3267)tcC>tcT	p.S1089S	CYFIP2_uc011ddn.2_Silent_p.S1064S|CYFIP2_uc011ddo.2_Silent_p.S894S|CYFIP2_uc021ygn.1_Silent_p.S1089S|CYFIP2_uc021ygo.1_Silent_p.S1089S|CYFIP2_uc003lwt.3_Silent_p.S993S|CYFIP2_uc011ddp.2_Silent_p.S824S	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1115					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGCCTGTCCATGTTCGAGG	0.602000														29			23		0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23688642	23688642	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:23688642G>A	uc001bgt.3	-	2	1614	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	ZNF436_uc001bgu.3_Silent_p.T411T	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCCTGTGTGGGTTCTCTGAT	0.473000														23			17		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336154	124336154	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:124336154G>A	uc001lgk.1	+	6	629	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	DMBT1_uc001lgl.1_Missense_Mutation_p.E175K|DMBT1_uc001lgm.1_Missense_Mutation_p.E175K|DMBT1_uc021qaf.1_Missense_Mutation_p.E175K|DMBT1_uc021qag.1_Missense_Mutation_p.E175K|DMBT1_uc021qah.1_Missense_Mutation_p.E175K|DMBT1_uc009xzz.1_Missense_Mutation_p.E175K|DMBT1_uc010qtx.1_Missense_Mutation_p.E175K|DMBT1_uc009yaa.1_Missense_Mutation_p.E27K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	175	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCAGGACACGAATCCTACCT	0.582000														46			47		0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35108110	35108110	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:35108110G>A	uc003zwl.3	-	2	487	c.162C>T	c.(160-162)tcC>tcT	p.S54S	FAM214B_uc003zwm.3_Silent_p.S54S|FAM214B_uc003zwn.3_Intron|FAM214B_uc003zwo.3_Silent_p.S54S|FAM214B_uc003zwp.1_Silent_p.S54S|FAM214B_uc010mkk.1_Intron|FAM214B_uc022bgj.1_Silent_p.S54S	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	54						nucleus											CAGCCGGAGGGGAAAAGATGG	0.672000														3			21		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820223	55820223	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:55820223G>A	uc010spm.2	+	0	186	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTCCTCAGGAATTTCTCCT	0.393000														48			52		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855306	79855306	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:79855306T>C	uc010jam.3	-	3	883	c.533A>G	c.(532-534)cAt>cGt	p.H178R	ANKRD34B_uc003kgw.3_Missense_Mutation_p.H178R|ANKRD34B_uc010jan.3_Missense_Mutation_p.H178R|ANKRD34B_uc021yax.1_Missense_Mutation_p.H178R	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	178						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGCTGGGGAATGACACCCATC	0.443000														54			38		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50786292	50786292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:50786292G>A	uc001zym.4	+	16	2973	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	USP8_uc001zyl.4_Missense_Mutation_p.E825K|USP8_uc001zyn.4_Missense_Mutation_p.E825K|USP8_uc010ufh.2_Missense_Mutation_p.E719K|AX746640_uc001zyo.1_Non-coding_Transcript|USP8_uc001zyp.4_5'UTR	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	825					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCATAAAGGTGAAGTGGCAGA	0.348000														6			26		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390024	48390024	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:48390024G>A	uc001jez.3	-	0	968	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	285	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCCCCAGGGACCTGGACAC	0.701000														11			10		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40589088	40589088	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:40589088G>A	uc001zld.3	-	13	1646	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	PLCB2_uc010bbo.3_Missense_Mutation_p.P449S|PLCB2_uc010ucm.2_Missense_Mutation_p.P449S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	449	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCAGGGCTGGGCAGGGGGACA	0.547000														1			22		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578650	58578650	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:58578650G>A	uc002qrg.3	+	3	873	c.870G>A	c.(868-870)ggG>ggA	p.G290G	ZNF135_uc002qre.3_Silent_p.G266G|ZNF135_uc002qrf.3_Silent_p.G224G|ZNF135_uc010yhq.2_Silent_p.G278G|ZNF135_uc010yhr.2_Silent_p.G87G|ZNF135_uc002qrd.2_Silent_p.G278G|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	278					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCCATACTGGGGAGAAACCCT	0.502000														46			42		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898705	36898705	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:36898705G>A	uc003cgj.3	-	11	2624	c.2376C>T	c.(2374-2376)atC>atT	p.I792I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	792					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGTGCACTCGATCTCCCAGG	0.493000														107			84		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053108	44053108	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:44053108A>C	uc001jaw.4	-	1	1073	c.420T>G	c.(418-420)aaT>aaG	p.N140K	ZNF239_uc001jax.4_Missense_Mutation_p.N140K|ZNF239_uc009xmj.3_Missense_Mutation_p.N140K|ZNF239_uc009xmk.3_Missense_Mutation_p.N140K|ZNF239_uc021pph.1_Missense_Mutation_p.N140K	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTAACTGGCCATTCTGGCAAG	0.438000														31			23		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485056	56485056	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:56485056G>A	uc002qmh.3	+	6	2644	c.2573G>A	c.(2572-2574)aGc>aAc	p.S858N	NLRP8_uc010etg.3_Intron	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	858						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACTTGTGAAAGCCTTGCCTCC	0.498000														97			67		0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431486	31431486	+	RNA	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:31431486G>A	uc003ntl.3	+	1		c.439G>A			HCP5_uc021yup.1_5'Flank			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						gaggccttgggaaattacctg	0.552000														44			37		0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082311	16082311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:16082311C>T	uc002rci.3	+	1	425	c.125C>T	c.(124-126)tCg>tTg	p.S42L	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Missense_Mutation_p.S42L	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	42					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGCCCCGACTCGACCCCCCCG	0.652000			A		neuroblastoma									28			12		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952793	119952793	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:119952793G>A	uc010inb.3	+	3	3059	c.2863G>A	c.(2863-2865)Gga>Aga	p.G955R	SYNPO2_uc010ina.3_Missense_Mutation_p.G955R|SYNPO2_uc003icm.4_Missense_Mutation_p.G955R|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.G883R|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	955						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAGAAAAAGGGAAAGAAACC	0.493000														29			15		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577553	162577553	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:162577553C>T	uc003iqh.3	-	6	1257	c.821G>A	c.(820-822)gGa>gAa	p.G274E	FSTL5_uc003iqi.3_Missense_Mutation_p.G273E|FSTL5_uc010iqv.3_Missense_Mutation_p.G273E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	274	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTCAGGGTTCCTTGAATGGC	0.383000														20			13		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40657610	40657611	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:40657610_40657611GG>AA	uc001rmg.4	+	13	1684_1685	c.1563_1564GG>AA	c.(1561-1566)agggag>agAAag	p.E522K	LRRK2_uc001rmh.1_Missense_Mutation_p.E144K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	522					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGAATCCAGGGAGGATACAGA	0.327000														16			13		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108833269	108833269	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:108833269G>A	uc003dxl.3	-	1	168	c.81C>T	c.(79-81)ttC>ttT	p.F27F	MORC1_uc011bhn.2_Silent_p.F27F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.S26I(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCCAAAAAGGAAACTGTGAG	0.358000														9			5		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548646	20548646	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:20548646C>T	uc002dhj.4	-	14	1878	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2B_uc002dhk.4_Silent_p.G556G	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	556					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G556W(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTGAATTTTCCCTGTGACAG	0.473000														11			59		0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918195	39918195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:39918195C>T	uc003axz.3	+	2	924	c.644C>T	c.(643-645)tCa>tTa	p.S215L	ATF4_uc011aol.1_Missense_Mutation_p.S127L|ATF4_uc003aya.3_Missense_Mutation_p.S215L	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	215					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GACACCCCTTCAGATAATGAT	0.522000														15			15		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17084434	17084434	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:17084434G>A	uc011awc.2	+	4	3159	c.3063G>A	c.(3061-3063)caG>caA	p.Q1021Q	PLCL2_uc011awd.2_Silent_p.Q903Q	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1029					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TACATTGTCAGAAGGCAGGTA	0.358000														46			36		0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101980593	101980593	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:101980593C>T	uc004azf.3	-	1	944	c.874G>A	c.(874-876)Gac>Aac	p.D292N	ALG2_uc004azg.3_Missense_Mutation_p.D199N	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	292					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TGGCCAAGGTCGGACTGTTGG	0.478000														1			51		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64624793	64624793	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:64624793C>T	uc001dbj.2	+	7	1703	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	435					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAGAAGTCATCGTCGGCACCA	0.453000														31			29		0	0	1	0	0
VPREB3	29802	broad.mit.edu	37	22	24095102	24095102	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:24095102C>T	uc002zxt.3	-	1	413	c.333G>A	c.(331-333)gcG>gcA	p.A111A	ZNF70_uc002zxs.3_5'Flank	NM_013378	NP_037510	Q9UKI3	VPRE3_HUMAN	Homo sapiens pre-B lymphocyte 3 (VPREB3), mRNA.	111	Ig-like.					endoplasmic reticulum				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				AGTAGTAATCCGCGTCGTCTT	0.602000														26			17		0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212955717	212955717	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:212955717G>A	uc001hjn.3	-	3	530	c.496C>T	c.(496-498)Cca>Tca	p.P166S	NSL1_uc001hjm.3_Missense_Mutation_p.P166S|NSL1_uc010pti.2_Intron	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	166					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GACTCACCTGGATCAGGGTCA	0.343000														24			35		0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6329956	6329956	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:6329956C>T	uc002gcp.3	-	4	858	c.763G>A	c.(763-765)Gat>Aat	p.D255N	AIPL1_uc021toq.1_Missense_Mutation_p.D216N|AIPL1_uc002gcq.3_Missense_Mutation_p.D195N|AIPL1_uc002gcr.3_Missense_Mutation_p.D192N|AIPL1_uc010clk.3_Missense_Mutation_p.D233N|AIPL1_uc010cll.3_Missense_Mutation_p.D231N|AIPL1_uc021tor.1_Missense_Mutation_p.D247N|AIPL1_uc002gcs.3_Missense_Mutation_p.D255N	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	255					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CGGAGAATATCACTGGTGTGC	0.607000														19			18		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121971176	121971176	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:121971176G>A	uc004bkc.2	-	6	1422	c.966C>T	c.(964-966)ttC>ttT	p.F322F		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	322					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CGATGGTCAGGAAGTGGTTGC	0.512000														7			30		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170014006	170014006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:170014006C>T	uc002ues.3	-	63	12107	c.11894G>A	c.(11893-11895)gGa>gAa	p.G3965E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3965					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTTTCTTTTCCTTTATCTGA	0.373000														11			9		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57738844	57738844	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:57738844G>A	uc002emi.3	+	5	845	c.756G>A	c.(754-756)agG>agA	p.R252R	CCDC135_uc002emj.3_Silent_p.R252R|CCDC135_uc002emk.3_Silent_p.R187R	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	252						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AACCCCCCAGGGACCTGTGCA	0.567000														14			18		0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106890098	106890098	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:106890098G>A	uc011cfd.2	+	12	1952	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E	NPNT_uc011cfc.2_Missense_Mutation_p.G567E|NPNT_uc011cfe.2_Missense_Mutation_p.G551E|NPNT_uc003hya.3_Missense_Mutation_p.G550E|NPNT_uc011cff.2_Missense_Mutation_p.G521E	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	550					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGGGAGATTGGATTAGATGAT	0.463000														9			7		0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67635255	67635255	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:67635255T>C	uc001ddo.3	+	2	386	c.301T>C	c.(301-303)Tgc>Cgc	p.C101R	IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_5'UTR|IL23R_uc010opk.2_Missense_Mutation_p.C58R|IL23R_uc010opl.2_5'UTR|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_5'UTR|IL23R_uc010opn.2_5'UTR|IL23R_uc001ddr.3_Non-coding_Transcript	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	101					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTCTATGTACTGCACTGCTGA	0.358000														39			25		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637249	129637249	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:129637249G>A	uc021zfb.1	+	26	4096	c.3991G>A	c.(3991-3993)Gat>Aat	p.D1331N	LAMA2_uc003qbn.3_Missense_Mutation_p.D1331N|LAMA2_uc003qbo.3_Missense_Mutation_p.D1331N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1331	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGACTTCTTGGATATACTATA	0.333000														19			19		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24344700	24344700	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:24344700G>A	uc003xeb.3	+	11	1074	c.961_splice	c.e11-1	p.D321_splice	ADAM7_uc003xec.3_Splice_Site_p.D93_splice	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	321	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATCATCAGGATCTTTTACC	0.408000														10			15		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79189748	79189748	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:79189748G>A	uc001vkw.1	-	5	2207	c.2148C>T	c.(2146-2148)tcC>tcT	p.S716S	BX647243_uc001vku.1_Intron|RNF219_uc010afb.1_Silent_p.S526S	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	716	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGCTGGCACTGGAAAGGCTGC	0.373000														37			23		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117728120	117728120	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:117728120G>A	uc001twn.2	-	3	1675	c.964C>T	c.(964-966)Cac>Tac	p.H322Y	NOS1_uc021ren.1_5'UTR|NOS1_uc021reo.1_5'UTR|NOS1_uc001twm.2_Missense_Mutation_p.H322Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	322					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)	CTCTTAAGGTGGAGGGTGTCA	0.512000														7			14		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661507	90661507	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:90661507G>A	uc011eab.2	-	6	1192	c.318C>T	c.(316-318)atC>atT	p.I106I	BACH2_uc003pnw.3_Silent_p.I106I|BACH2_uc010kch.3_Silent_p.I106I	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	106						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGACCTCGCGGATGTTTTCTC	0.562000														11			14		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518280	113518280	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:113518280G>A	uc010ljy.1	-	3	2898	c.2867C>T	c.(2866-2868)tCa>tTa	p.S956L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	956					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCTCTTGTTGAATTACAAAT	0.383000														55			43		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26534448	26534448	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:26534448G>A	uc002rhe.4	-	10	2148	c.2148C>T	c.(2146-2148)gtC>gtT	p.V716V	GPR113_uc010yky.1_Silent_p.V647V|GPR113_uc002rhb.1_Silent_p.V319V|GPR113_uc010eyk.1_Silent_p.V517V|GPR113_uc002rhc.1_Silent_p.V319V|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	716	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCCCAGAAGACACAGTGAG	0.602000														31			27		0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523486	42523486	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:42523486G>A	uc003bce.3	-	6	1226	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Missense_Mutation_p.S73F|CYP2D6_uc003bcf.3_Missense_Mutation_p.S328F	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	379							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATGTCACGGGATGTCATATG	0.617000														31			15		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185173954	185173954	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:185173954G>A	uc001grg.4	+	11	1906	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	SWT1_uc001grh.4_Missense_Mutation_p.E598K	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	598										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTCAATATTAGAAACAGAAAT	0.323000														26			13		0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32897411	32897411	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:32897411G>A	uc002rom.3	+	7	1285	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	TTC27_uc010ymx.2_Missense_Mutation_p.D288N	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	338							protein binding	p.P337P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CCAGATGCCGGATCTGTGTGC	0.378000														38			26		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984958	140984958	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:140984958C>T	uc011mwp.2	+	6	1414	c.1414C>T	c.(1414-1416)Caa>Taa	p.Q472*	MAGEC3_uc004fbs.3_Nonsense_Mutation_p.Q174*|MAGEC3_uc010nsj.3_Nonsense_Mutation_p.Q174*|MAGEC3_uc022cfh.1_Nonsense_Mutation_p.Q174*	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	472	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAAATATCAAACAAAAGA	0.458000														3			31		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776624	137776624	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:137776624C>T	uc003vtz.3	+	2	459	c.372C>T	c.(370-372)gcC>gcT	p.A124A	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Silent_p.A124A|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Silent_p.A124A|AKR1D1_uc011kqe.1_Silent_p.A124A|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	124					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TACCCATGGCCTTTAAGGTGA	0.507000														48			39		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904318	5904318	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:5904318C>T	uc002wmg.3	+	3	1834	c.1528C>T	c.(1528-1530)Cac>Tac	p.H510Y	CHGB_uc010zqz.2_Missense_Mutation_p.H193Y	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	510						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TAGCTCCCATCACACAGCTGA	0.483000														41			14		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956773	68956773	+	Silent	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:68956773T>G	uc003xxv.1	+	7	918	c.891T>G	c.(889-891)cgT>cgG	p.R297R	PREX2_uc003xxu.1_Silent_p.R297R|PREX2_uc011lez.1_Silent_p.R232R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R297H(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTTTTTCGTGGCCGGATCA	0.393000														26			13		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134477499	134477499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:134477499G>A	uc022bos.1	-	11	2105	c.1946C>T	c.(1945-1947)cCc>cTc	p.P649L	RAPGEF1_uc022bot.1_Missense_Mutation_p.P631L|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.P806L|RAPGEF1_uc022bov.1_Missense_Mutation_p.P636L|RAPGEF1_uc010mzr.1_Missense_Mutation_p.P216L|RAPGEF1_uc010mzq.1_Missense_Mutation_p.P215L|RAPGEF1_uc010mzs.1_Missense_Mutation_p.P163L|RAPGEF1_uc010mzl.1_Missense_Mutation_p.P129L|RAPGEF1_uc010mzo.1_Missense_Mutation_p.P77L|RAPGEF1_uc010mzp.1_Missense_Mutation_p.P108L	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	631					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GACCGCTGAGGGATCTCTGGG	0.652000														3			10		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042618	73042618	+	RNA	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:73042618G>A	uc004ebn.2	+	0		c.30579G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TCGTATGAACGAAAAAATAAA	0.343000														0			12		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59764311	59764311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:59764311C>T	uc003xtw.1	-	3	686	c.465G>A	c.(463-465)atG>atA	p.M155I		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	155						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCATGGCTGCCATCTGAGGAT	0.428000														36			29		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395580	124395580	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:124395580C>T	uc001lgk.1	+	49	6341	c.6235C>T	c.(6235-6237)Cga>Tga	p.R2079*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.R2069*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1451*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R2079*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R2069*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1451*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R2078*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R799*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R782*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R373*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2079	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTCATTGCTCGAGTTTGTGA	0.522000														25			21		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276734	16276734	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:16276734C>T	uc002den.4	-	15	2034	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	666	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTCCCTGCCCCCACTGGACC	0.627000														32			21		0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085338	5085338	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:5085338A>T	uc010cla.1	-	1	2370	c.2214T>A	c.(2212-2214)tgT>tgA	p.C738*	ZNF594_uc021tol.1_Nonsense_Mutation_p.C738*	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGGTTTTCTCACATTCTTCAA	0.433000														108			39		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729556	196729556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:196729556C>T	uc002utj.4	-	40	6924	c.6823G>A	c.(6823-6825)Gat>Aat	p.D2275N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2275					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D2275N(2)		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						CTCTTGGGATCATGGAAATCA	0.373000														46			41		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39162472	39162472	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:39162472G>A	uc003oon.3	-	2	727	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	121					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCGGCACCCCGAAGAGACCAT	0.587000														57			46		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47732018	47732018	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:47732018C>T	uc001ngg.3	-	3	445	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	AGBL2_uc010rhq.1_Missense_Mutation_p.R48Q|AGBL2_uc001ngh.1_Missense_Mutation_p.R48Q	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	48					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTTATTCTTCCGAACATGCTG	0.428000														4			51		0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72582467	72582467	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:72582467C>T	uc002aui.2	-	3	1302	c.841_splice	c.e3+1	p.G281_splice	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Splice_Site|CELF6_uc010biv.1_Splice_Site|CELF6_uc010ukl.1_Splice_Site_p.G60_splice|CELF6_uc010biw.2_Splice_Site_p.G62_splice|CELF6_uc002auh.2_Splice_Site_p.G175_splice|CELF6_uc010ukm.1_Splice_Site_p.G175_splice|CELF6_uc002auj.2_Splice_Site_p.G62_splice	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	175	Ala-rich.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GCTCAGGTCACCTTTACTGGT	0.627000														15			17		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169962	57169962	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:57169962G>A	uc001cyk.4	+	6	1178	c.1107G>A	c.(1105-1107)agG>agA	p.R369R		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	369					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	p.R369S(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATCCAGAAAGGATGCCACCTC	0.478000														26			19		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576419	158576419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:158576419C>T	uc010pio.2	+	0	191	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTCTTCCTTTCCTTCCTATCC	0.517000														145			75		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826292	117826292	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:117826292G>A	uc004bjj.4	-	11	3955	c.3543C>T	c.(3541-3543)ctC>ctT	p.L1181L	TNC_uc010mvf.3_Silent_p.L1181L|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1181	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGTTGAGTTTGAGGGCATCCC	0.532000														9			108		0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64095186	64095186	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:64095186A>T	uc010ooz.2	+	1	636	c.391A>T	c.(391-393)Att>Ttt	p.I131F	PGM1_uc001dbh.3_Missense_Mutation_p.I113F|PGM1_uc010ooy.2_5'UTR	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	113					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	p.I113V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGTGGGATCATTCTGACAGC	0.463000														67			52		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95513820	95513820	+	RNA	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:95513820C>T	uc010fhp.3	-	4		c.585G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATGTCTTGAGCGAAGACATCA	0.358000														388			6		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27457493	27457493	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:27457493C>T	uc002rji.3	+	22	3888	c.3726C>T	c.(3724-3726)atC>atT	p.I1242I	CAD_uc010eyw.3_Silent_p.I1179I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1242	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGCGGGTCATCATGGGGGAAG	0.507000														28			31		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584643	82584643	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:82584643T>A	uc003uhx.2	-	4	5915	c.5626A>T	c.(5626-5628)Aaa>Taa	p.K1876*	PCLO_uc003uhv.2_Nonsense_Mutation_p.K1876*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1807					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTATTATTTTTTCCGGGCTT	0.383000														35			28		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64491906	64491906	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:64491906G>A	uc001xgl.3	+	40	6249	c.6019G>A	c.(6019-6021)Gaa>Aaa	p.E2007K	SYNE2_uc001xgm.3_Missense_Mutation_p.E2007K|SYNE2_uc021ruh.1_Missense_Mutation_p.E2007K	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2007					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGGTTTACTGAAGAAGAAGA	0.358000														21			18		0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59908129	59908129	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:59908129G>A	uc003dkx.4	-	7	662	c.291C>T	c.(289-291)gtC>gtT	p.V97V	FHIT_uc003dky.3_Silent_p.V97V|FHIT_uc010hnn.1_Silent_p.V97V	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	97	Binding to substrate; phosphate linker.|HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	p.V97I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GAAGAACATGGACGTGAACGT	0.423000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3					19			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249868	140249868	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140249868T>A	uc003lia.2	+	0	2038	c.1180T>A	c.(1180-1182)Ttc>Atc	p.F394I	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_uc011dae.2_Missense_Mutation_p.F394I	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	410	Cadherin 4.				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)			CCACGTTCCCTTCAAGCTGGT	0.607000														51			55		0	0	1	0	0
HMGA2	8091	broad.mit.edu	37	12	66221809	66221809	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:66221809G>A	uc001ssu.1	+	1	951	c.140G>A	c.(139-141)aGa>aAa	p.R47K	RPSAP52_uc001sso.3_5'Flank|HMGA2_uc001ssw.1_Missense_Mutation_p.R47K|HMGA2_uc001ssx.3_Missense_Mutation_p.R47K|HMGA2_uc001ssp.1_Non-coding_Transcript|HMGA2_uc010ssv.1_Non-coding_Transcript|HMGA2_uc001sss.1_Non-coding_Transcript|HMGA2_uc001sst.1_Missense_Mutation_p.R47K|HMGA2_uc001ssv.3_Missense_Mutation_p.R47K	NM_003483	NP_003474	P52926	HMGA2_HUMAN	Homo sapiens high mobility group AT-hook 2 (HMGA2), transcript variant 1, mRNA.	47	Interaction with E4F1.				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		TCTCCTAAGAGACCCAGGGGA	0.448000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""									24			10		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38857459	38857459	+	Silent	SNP	G	A	A	rs150900239		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:38857459G>A	uc003tgy.3	-	6	434	c.408C>T	c.(406-408)ttC>ttT	p.F136F	VPS41_uc003tgz.3_Silent_p.F111F|VPS41_uc010kxn.3_Silent_p.F136F	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	136					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.F136F(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGATCTCACGAAATGTGGGT	0.468000														46			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599502	179599502	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179599502C>T	uc021vsy.1	-	47	11642	c.11417G>A	c.(11416-11418)gGg>gAg	p.G3806E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G467E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4733							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)			TGAGTAACTCCCACTGTCTTC	0.363000														47			38		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064768	7064768	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:7064768C>A	uc001mfb.1	+	3	1834	c.1511C>A	c.(1510-1512)tCc>tAc	p.S504Y		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	504					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.P503S(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAACCCTTCCTGCCAGCCT	0.408000														6			54		9.22156e-22	9.35356e-22	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13766133	13766133	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13766133C>T	uc003jfd.2	-	58	10095	c.10053G>A	c.(10051-10053)caG>caA	p.Q3351Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3351	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAAGGATTCCTGCCAGGAGG	0.448000									Kartagener syndrome					39			30		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890233	139890233	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:139890233G>A	uc003yvd.3	-	2	865	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	140	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGTAGGCGCGGTCCCTGGGG	0.726000										HNSCC(7;0.00092)				3			3		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955779	38955779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:38955779C>T	uc002hvh.1	-	0	433	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	123	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCGTATTTTTCATACCAACCC	0.413000														55			41		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202662	39202662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:39202662C>T	uc003jls.3	-	0	468	c.401G>A	c.(400-402)gGa>gAa	p.G134E	FYB_uc003jlt.3_Missense_Mutation_p.G134E|FYB_uc003jlu.3_Missense_Mutation_p.G134E|FYB_uc011cpl.2_Missense_Mutation_p.G144E	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	134					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCTTGTTTCCAGGAGGCCA	0.498000														30			37		0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129350899	129350899	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:129350899C>T	uc001ljx.1	+	2	286	c.266C>T	c.(265-267)tCa>tTa	p.S89L		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	Homo sapiens neuropeptide S (NPS), transcript variant 1, mRNA.	89					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AGAGCAAAATCATGACTAAGT	0.408000														43			35		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70070851	70070851	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:70070851G>A	uc010kak.3	+	27	3962	c.3686G>A	c.(3685-3687)gGa>gAa	p.G1229E	BAI3_uc003pev.4_Missense_Mutation_p.G1229E|BAI3_uc011dxx.2_Missense_Mutation_p.G435E	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1229					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)				GAAGAAAAGGGAACAAACCCT	0.428000														29			21		0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15540668	15540668	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:15540668G>A	uc004cww.3	+	6	898	c.710G>A	c.(709-711)aGg>aAg	p.R237K	BMX_uc004cwx.4_Missense_Mutation_p.R237K|BMX_uc004cwy.4_Missense_Mutation_p.R237K	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	237					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.P236A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TATATTCCAAGGGAAGACTTC	0.483000														3			27		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328613	152328613	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152328613G>A	uc001ezw.4	-	2	1722	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	550	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGACTTGAGCCAGAACC	0.488000														235			100		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18841059	18841059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:18841059G>A	uc021qvx.1	-	12	1746	c.1555C>T	c.(1555-1557)Caa>Taa	p.Q519*	PLCZ1_uc001rdv.4_Nonsense_Mutation_p.Q415*|PLCZ1_uc001rdw.4_Nonsense_Mutation_p.Q260*|PLCZ1_uc001rdu.1_Nonsense_Mutation_p.Q301*|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	519	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGCTTCATTTGATCATTTGGA	0.343000														29			17		0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229654618	229654618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:229654618G>A	uc001htp.4	-	11	1998	c.1955C>T	c.(1954-1956)cCc>cTc	p.P652L		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	652	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAGAATTTTGGGATTCTGAAG	0.299000														34			20		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50954001	50954001	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:50954001C>T	uc009xog.3	-	9	1434	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	OGDHL_uc001jie.3_Missense_Mutation_p.R440Q|OGDHL_uc010qgt.2_Missense_Mutation_p.R383Q|OGDHL_uc010qgu.2_Missense_Mutation_p.R231Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R231Q	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	440					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCGGGCCATTCGGGGGTCTGT	0.557000														18			18		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4245657	4245657	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:4245657G>A	uc002cvz.4	-	4	520	c.507C>T	c.(505-507)ttC>ttT	p.F169F	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	628	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GCTTCTCTAGGAAATTCTGGC	0.517000														49			35		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408186	10408186	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:10408186C>T	uc002gmo.3	-	21	2726	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	878						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTTTTTCTTCCAGCTCTTTC	0.418000														38			27		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128984510	128984510	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:128984510G>A	uc003kvb.1	+	12	2005	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	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.	669	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		TGAAGCAAGGGATTGTAATGG	0.343000														22			18		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	404910	404910	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:404910G>A	uc003bot.3	+	13	2071	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	CHL1_uc003bou.3_Missense_Mutation_p.E461K|CHL1_uc003bow.2_Missense_Mutation_p.E461K|CHL1_uc011asi.2_Missense_Mutation_p.E477K	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	461	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCAGAAGGTGGAAGAAGTGAA	0.448000														18			9		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159554557	159554557	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:159554557G>A	uc003ipz.3	+	12	1163	c.900_splice	c.e12-1	p.L300_splice	RXFP1_uc010iqj.2_Splice_Site_p.L129_splice|RXFP1_uc010iqk.3_Splice_Site_p.L168_splice|RXFP1_uc011cja.2_Splice_Site_p.L195_splice|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Splice_Site_p.L219_splice|RXFP1_uc011cjd.2_Splice_Site_p.L219_splice|RXFP1_uc010iql.3_Splice_Site_p.L144_splice|RXFP1_uc011cje.2_Splice_Site_p.L327_splice|RXFP1_uc010iqm.3_Splice_Site_p.L267_splice|RXFP1_uc011cjf.2_Splice_Site_p.L170_splice|RXFP1_uc010iqn.3_Splice_Site_p.L246_splice	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	300						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTTCTCCAGGGATTTAGGAA	0.338000														22			10		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329631	7329631	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:7329631C>T	uc002ggw.3	+	2	394	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	107						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACTCCTCTTTCTCCTGCCACC	0.617000														51			50		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519884	69519884	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:69519884G>A	uc021xow.1	-	4	1342	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	395					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CGCAAACAAGGGAATGCCCAC	0.463000														86			39		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88945680	88945680	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:88945680C>T	uc002fmm.2	-	10	1949	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	CBFA2T3_uc002fml.2_Missense_Mutation_p.E468K|CBFA2T3_uc002fmk.2_Missense_Mutation_p.E53K	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	554					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E554K(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCCCTACCTCGCTGGAGTCC	0.697000			T	RUNX1	AML									33			30		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:56035908C>T	uc003pcs.3	-	3	891	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R220Q|COL21A1_uc003pcu.1_Missense_Mutation_p.R220Q	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000														19			22		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70641765	70641765	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:70641765C>T	uc001jos.2	+	1	449	c.362C>T	c.(361-363)cCt>cTt	p.P121L	STOX1_uc001joq.3_Missense_Mutation_p.P11L|STOX1_uc001jor.3_Missense_Mutation_p.P121L|STOX1_uc009xpy.3_Missense_Mutation_p.P121L|STOX1_uc021prw.1_Missense_Mutation_p.P11L	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	121						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CAGTTCGTACCTTTGGGTGAA	0.378000														38			30		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415646	86415646	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:86415646G>A	uc003uid.3	+	2	1637	c.538G>A	c.(538-540)Gat>Aat	p.D180N	GRM3_uc010lef.3_Missense_Mutation_p.D178N|GRM3_uc010leg.3_Missense_Mutation_p.D52N|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	180					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAACTCAGTGATAAGTCGCG	0.552000														111			94		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10783110	10783110	+	Splice_Site	SNP	C	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:10783110C>G	uc002czz.1	-	3	791	c.719_splice	c.e3+1	p.R240_splice		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	240					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCCCTTACCGCATCTGGAT	0.413000														14			12		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123332506	123332506	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:123332506G>A	uc003ieo.3	+	8	1210	c.978G>A	c.(976-978)atG>atA	p.M326I	ADAD1_uc003iep.3_Missense_Mutation_p.M315I|ADAD1_uc003ieq.3_Missense_Mutation_p.M308I	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	326	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCCTTTACATGAACCAGTTGC	0.348000														28			18		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666588	50666588	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:50666588G>A	uc001csb.2	+	6	1149	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ELAVL4_uc001cry.3_Missense_Mutation_p.G283E|ELAVL4_uc001crz.3_Missense_Mutation_p.G280E|ELAVL4_uc001csa.3_Missense_Mutation_p.G297E|ELAVL4_uc001csc.3_Missense_Mutation_p.G280E|ELAVL4_uc010omz.2_Missense_Mutation_p.G285E	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	294					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGTCACACAGGAACTGGGTGG	0.537000														32			33		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29797013	29797013	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:29797013C>T	uc002kxj.4	+	12	1866	c.1819C>T	c.(1819-1821)Ctc>Ttc	p.L607F		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	607	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTTCAAGACCTCTGCTCAAA	0.453000														23			26		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505164	47505164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:47505164G>A	uc001cqt.3	+	7	1283	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CYP4X1_uc001cqr.3_Missense_Mutation_p.E344K|CYP4X1_uc001cqs.3_Missense_Mutation_p.E280K	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	345						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATGCCGGGAGGAGGTCAGGGG	0.507000														18			18		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069004	4069004	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:4069004T>C	uc003mvx.3	-	6	1859	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.I422V	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	485																	AGCTTCTGAATAGAGAATGGT	0.368000														25			25		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221216	48221216	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:48221216G>A	uc002eff.1	-	19	3179	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	ABCC11_uc002efg.1_Silent_p.V943V|ABCC11_uc002efh.1_Silent_p.V943V|ABCC11_uc010vgk.1_Non-coding_Transcript|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	943	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTAAGGACAGGACCAGGAACT	0.473000														30			16		0	0	1	0	0
ZNF22	7570	broad.mit.edu	37	10	45499062	45499062	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:45499062C>T	uc001jbw.3	+	1	489	c.246C>T	c.(244-246)tcC>tcT	p.S82S	C10orf25_uc001jbv.2_5'Flank|ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Silent_p.S82S	NM_006963	NP_008894	P17026	ZNF22_HUMAN	Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA.	82					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GAAAGAAATCCCATAAATGTG	0.398000														15			10		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887040	123887040	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:123887040C>T	uc010sac.2	+	0	759	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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)		TCTTTGTTCCCTGTGTTGTCA	0.537000														3			34		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15432684	15432684	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:15432684C>T	uc002rcc.1	-	40	5030	c.5004G>A	c.(5002-5004)agG>agA	p.R1668R	NBAS_uc010exl.1_Silent_p.R740R|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1668										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGATAGTTTCCCTTTTATACT	0.448000														17			5		0	0	1	0	0
SAAL1	113174	broad.mit.edu	37	11	18105252	18105253	+	Missense_Mutation	DNP	TG	GA	GA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:18105252_18105253TG>GA	uc001mnq.3	-	9	1118_1119	c.1068_1069CA>TC	c.(1066-1071)ctcatt>ctTCtt	p.I357L	SAAL1_uc001mnr.3_Missense_Mutation_p.I356L	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	357					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						AAGACCCGAATGAGGCTGTCAA	0.371000														1			29		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357838	38357838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38357838C>T	uc003cib.2	+	8	1629	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F	SLC22A14_uc010hhc.1_Missense_Mutation_p.S519F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	519						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)		GGGCTGGTGTCTCTGGCCTCG	0.617000														15			18		0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43155265	43155265	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:43155265G>A	uc001uyu.2	+	1	372	c.223G>A	c.(223-225)Gat>Aat	p.D75N	TNFSF11_uc001uyt.2_Missense_Mutation_p.D2N	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	75					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TCCTCAGATGGATCCTAATAG	0.373000														31			20		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718663	42718663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:42718663G>A	uc021xxv.1	+	9	1212	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	GHR_uc003jmt.3_Missense_Mutation_p.E352K|GHR_uc003jmu.3_Missense_Mutation_p.E352K|GHR_uc003jmv.2_Missense_Mutation_p.E352K|GHR_uc021xxw.1_Missense_Mutation_p.E352K|GHR_uc021xxx.1_Missense_Mutation_p.E352K|GHR_uc021xxy.1_Missense_Mutation_p.E352K|GHR_uc021xxz.1_Missense_Mutation_p.E352K|GHR_uc021xya.1_Missense_Mutation_p.E352K|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.E165K|GHR_uc021xyd.1_Missense_Mutation_p.E330K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	352					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGATATTGATGAGCCAGATGA	0.423000														52			44		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7441863	7441863	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:7441863G>A	uc001mfe.3	+	5	1701	c.1464G>A	c.(1462-1464)gtG>gtA	p.V488V	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	488						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATTCCCTGGTGGAGGTAAGAC	0.488000														3			29		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874738	33874738	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:33874738G>A	uc021wck.1	-	3	1962	c.1844C>T	c.(1843-1845)tCa>tTa	p.S615L	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.S270L	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	615										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGTCTGGCTGAGGAGTTGGT	0.622000														46			27		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987893	61987893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:61987893C>T	uc002jda.1	-	2	255	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	CSHL1_uc002jcz.1_Intron|CSHL1_uc002jdb.1_5'UTR|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc021ubn.1_Silent_p.K95K	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	65						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GTGATATAGGCTTCTTCCTAG	0.507000														60			36		0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75737656	75737656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:75737656G>A	uc001sxo.3	+	1	404	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.3_Missense_Mutation_p.E120K	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 1 (GLIPR1L1), mRNA.	120						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TTGGTATAATGAAACCCAATT	0.333000														17			15		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155257122	155257122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155257122C>T	uc001fjz.1	+	6	1644	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	HCN3_uc010pfz.1_Missense_Mutation_p.R241C	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	546						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGGCTGCTCCGCATCGGTGA	0.597000														41			19		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7320372	7320372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:7320372C>T	uc002ggt.1	+	6	1835	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	588					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCTGAAGCCACGCGTGCGTGA	0.582000														8			6		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649793	121649793	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:121649793G>A	uc003eep.2	+	17	1813	c.1660G>A	c.(1660-1662)Gga>Aga	p.G554R	SLC15A2_uc011bjn.1_Missense_Mutation_p.G523R	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	554					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTGCAAAGAGGAGAGTAAGT	0.393000														10			11		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022147	14022147	+	Silent	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:14022147C>A	uc003wwq.3	-	4	1149	c.489G>T	c.(487-489)gtG>gtT	p.V163V	SGCZ_uc010lss.3_Silent_p.V116V	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	150					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGAAAACAGCACCCTGCCAT	0.408000														35			8		0.0381472	0.0382629	1	1	0
MET	4233	broad.mit.edu	37	7	116380980	116380980	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:116380980C>T	uc003vij.3	+	4	1789	c.1602C>T	c.(1600-1602)ccC>ccT	p.P534P	MET_uc022akk.1_Silent_p.P534P|MET_uc010lkh.3_Silent_p.P534P|MET_uc011knc.1_Silent_p.P534P|MET_uc011knd.2_Silent_p.P534P|MET_uc011knf.2_Silent_p.P534P|MET_uc011kne.2_Intron|MET_uc011kng.1_Silent_p.P534P|MET_uc011knh.1_Silent_p.P534P|MET_uc011kni.2_Silent_p.P534P|MET_uc011knj.2_Silent_p.P104P|MET_uc011knb.1_Silent_p.P534P	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	534					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGCCCCACCCTTTGTTCAGT	0.537000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					98			81		0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27067869	27067869	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:27067869C>T	uc002hcp.3	+	11	1598	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	533						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S544Y(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GACCACCTCTCCCTGGGGGAG	0.607000														19			14		0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776017	144776018	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:144776017_144776018CC>TT	uc003yze.4	+	6	748_749	c.433_434CC>TT	c.(433-435)ccc>TTc	p.P145F	ZNF707_uc010mfh.3_Missense_Mutation_p.P145F|ZNF707_uc010mfi.3_Missense_Mutation_p.P145F|ZNF707_uc003yzf.4_Missense_Mutation_p.P145F|ZNF707_uc003yzh.4_Missense_Mutation_p.P72F|ZNF707_uc011lkq.1_Non-coding_Transcript	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGACGCCAAGCCCACGGCTTTC	0.634000														18			13		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137015310	137015310	+	Silent	SNP	C	T	T	rs145409110	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:137015310C>T	uc003qhc.3	-	6	1582	c.1221G>A	c.(1219-1221)acG>acA	p.T407T	MAP3K5_uc011edk.1_Silent_p.T252T|MAP3K5_uc010kgw.1_Silent_p.T407T	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	407					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTCAGTGTCCGTGAAATTAG	0.358000														20			11		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701916	56701916	+	Silent	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:56701916T>C	uc010ygh.2	-	3	768	c.768A>G	c.(766-768)gaA>gaG	p.E256E		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	256					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTTCTGGGGTTCCTTCCCCT	0.493000														37			32		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753824	48753824	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:48753824C>T	uc002isl.3	+	22	3333	c.3253C>T	c.(3253-3255)Cct>Tct	p.P1085S	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1085	ABC transmembrane type-1 2.				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)	GGTTCTGGCCCCTGTCATCCT	0.542000														64			71		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185029	24185029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:24185029G>A	uc003ccz.4	-	8	1221	c.701C>T	c.(700-702)gCc>gTc	p.A234V	THRB_uc010hfe.3_Missense_Mutation_p.A234V|THRB_uc003ccy.4_Missense_Mutation_p.A234V|THRB_uc003ccx.4_Missense_Mutation_p.A234V	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	234			A -> T (in GTHR).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTGCCTTGGGCGTTGGTCGC	0.512000														41			35		0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145659103	145659103	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:145659103C>A	uc011llg.2	-	21	3442	c.3427G>T	c.(3427-3429)Gac>Tac	p.D1143Y	AK298596_uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	1143					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCACAGCCGTCCCCCAGGGGG	0.657000														20			8		3.09899e-07	3.12418e-07	1	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255091	15255091	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:15255091C>T	uc001iob.3	-	7	2503	c.2496G>A	c.(2494-2496)caG>caA	p.Q832Q		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	832						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCGTCTCCTCCTGCAGGCTGG	0.642000														53			56		0	0	1	0	0
TSPO2	222642	broad.mit.edu	37	6	41011740	41011740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:41011740C>T	uc003opj.3	+	3	678	c.377C>T	c.(376-378)cCc>cTc	p.P126L	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.3_Silent_p.S88S|TSPO2_uc011dub.2_Missense_Mutation_p.P126L	NM_001010873	NP_001153198	Q5TGU0	TSPO2_HUMAN	Homo sapiens translocator protein 2 (TSPO2), transcript variant 1, mRNA.	126					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCTGGCATCCCATCAACAAA	0.617000														10			10		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873812	66873812	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:66873812C>T	uc002jhq.3	-	32	4387	c.4047G>A	c.(4045-4047)ctG>ctA	p.L1349L	ABCA8_uc002jhp.3_Silent_p.L1309L|ABCA8_uc010wqq.2_Silent_p.L1344L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1309	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)					CGCTCCCTTTCAGTAGCACCT	0.537000														26			23		0	0	1	0	0
C5orf43	643155	broad.mit.edu	37	5	60455943	60455943	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:60455943G>A	uc010iwm.1	-	2	483	c.56C>T	c.(55-57)cCc>cTc	p.P19L	C5orf43_uc010iwl.1_Non-coding_Transcript|C5orf43_uc021xzb.1_Missense_Mutation_p.P19L	NM_001048249	NP_001041714	Q7Z3B0	CE043_HUMAN	Homo sapiens chromosome 5 open reading frame 43 (C5orf43), mRNA.	19						integral to membrane				large_intestine(1)	1						GAAGCCATAGGGGTCCTTTGC	0.502000														29			17		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275254	54275254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:54275254G>A	uc004dtc.2	-	16	3966	c.3527C>T	c.(3526-3528)cCt>cTt	p.P1176L	WNK3_uc004dtd.2_Missense_Mutation_p.P1176L	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1176					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTGGAAATTAGGGGATTGTAC	0.443000														1			34		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348482	21348482	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:21348482C>T	uc002zto.3	+	13	1642	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	LZTR1_uc002ztn.3_Silent_p.I472I|LZTR1_uc011ahy.2_Silent_p.I494I|LZTR1_uc010gsr.1_Silent_p.I384I	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	513	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGTGGCCATCCGGGAGGCCG	0.697000														10			4		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113363430	113363430	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:113363430C>T	uc003ynu.3	-	39	6458	c.6299G>A	c.(6298-6300)tGg>tAg	p.W2100*	CSMD3_uc003yns.3_Nonsense_Mutation_p.W1302*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W2060*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W1996*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2100	Sushi 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGATAATTCCATCTTCTTAC	0.294000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				25			16		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8659749	8659749	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:8659749G>A	uc010cnz.1	-	2	523	c.346C>T	c.(346-348)Cct>Tct	p.P116S		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	116								p.P116T(2)|p.D115E(1)		breast(1)|endometrium(2)|kidney(1)	4						TGAACGACAGGATCCCCTGTG	0.537000														28			22		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329076	23329076	+	RNA	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:23329076C>T	uc002nrb.1	+	3		c.1429C>T								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTATCTCACACCTTACTACAC	0.363000														10			11		0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55371723	55371723	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:55371723G>A	uc003xsb.4	+	1	617	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	138					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TACAAGTACCGGCCGCGGCGG	0.726000														6			8		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242155653	242155654	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:242155653_242155654GG>AA	uc002wax.2	+	19	2237	c.2134_splice	c.e19+1	p.V712_splice		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	712						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGAAATGGGTAGGAGCCCG	0.634000														9			7		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067472	103067472	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:103067472C>T	uc002tbx.3	+	10	1859	c.1375C>T	c.(1375-1377)Cca>Tca	p.P459S	IL18RAP_uc010fiz.3_Missense_Mutation_p.P317S	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	459	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGATGTGGCTCCAGGAGGAGG	0.403000														18			18		0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129913336	129913336	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:129913336G>A	uc003igp.2	-	8	1178	c.672C>T	c.(670-672)ctC>ctT	p.L224L	SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Silent_p.L224L|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	224						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTTTTTTTCGGAGTTGTTCGA	0.303000														10			5		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123279642	123279642	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:123279642C>T	uc021pzz.1	-	6	1437	c.790G>A	c.(790-792)Gca>Aca	p.A264T	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Missense_Mutation_p.A149T|FGFR2_uc021pzx.1_Missense_Mutation_p.A175T|FGFR2_uc021pzy.1_Missense_Mutation_p.A264T|FGFR2_uc010qtl.2_Missense_Mutation_p.A264T|FGFR2_uc010qtm.2_Missense_Mutation_p.A149T|FGFR2_uc021qaa.1_Missense_Mutation_p.A264T|FGFR2_uc021qab.1_Missense_Mutation_p.A175T|FGFR2_uc021qac.1_Missense_Mutation_p.A194T|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.A283T|FGFR2_uc010qto.2_Missense_Mutation_p.A168T|FGFR2_uc001lfo.1_Missense_Mutation_p.A283T|FGFR2_uc010qtp.2_Missense_Mutation_p.A283T|FGFR2_uc001lfg.4_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	264	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GAGGCATTTGCCGGCAGTCCG	0.552000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					7			6		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518198	113518198	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:113518198C>T	uc010ljy.1	-	3	2980	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	983					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TACCTGATGTCACTATTCCTG	0.368000														52			42		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236620	140236620	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140236620G>A	uc003lhx.2	+	0	987	c.987G>A	c.(985-987)atG>atA	p.M329I	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_Missense_Mutation_p.M329I|PCDHAC2_uc011dad.2_Missense_Mutation_p.M329I	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	345	Cadherin 3.				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)			ACCCACCTATGGTTGGTCACT	0.408000														30			24		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961356	1961356	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:1961356C>T	uc010gaj.3	-	2	620	c.378G>A	c.(376-378)ctG>ctA	p.L126L	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.L126L|PDYN_uc021vzt.1_Silent_p.L126L|PDYN_uc021vzu.1_Silent_p.L126L|PDYN_uc002wfv.3_Silent_p.L126L	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	126					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTCTCCTCCAGGCTCTTGC	0.547000														49			83		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44610692	44610692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:44610692G>A	uc002oyh.2	+	5	696	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	127					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTTCTCCAAAGAAGGTGATTT	0.423000														33			27		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822687	97822687	+	Silent	SNP	G	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:97822687G>T	uc003upd.2	+	10	3203	c.2910G>T	c.(2908-2910)tcG>tcT	p.S970S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	970					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCTCTCCTCGGACTCAACCA	0.552000														101			80		2.02726e-29	2.06261e-29	1	1	0
DDX50	79009	broad.mit.edu	37	10	70679599	70679599	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:70679599C>T	uc001jou.3	+	7	1208	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	367						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATTTGGCCATCCAGTGTCATT	0.358000														33			20		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289561	7289561	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:7289561C>T	uc001qss.3	+	5	1639	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	CLSTN3_uc001qsr.3_Silent_p.P355P	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	355					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCAGGTGCCCCTGGGTGGCC	0.622000														58			37		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249460	43249460	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:43249460C>T	uc002lbe.3	+	15	3042	c.2226C>T	c.(2224-2226)ccC>ccT	p.P742P	SLC14A2_uc010dnj.3_Silent_p.P742P	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	742						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCAAGTGCCCTTGGTACGTA	0.517000														43			34		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101936301	101936301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:101936301C>T	uc001vox.1	-	9	1306	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	NALCN_uc001voy.3_Missense_Mutation_p.A88T|NALCN_uc001voz.2_Missense_Mutation_p.A373T|NALCN_uc001vpa.2_Missense_Mutation_p.A373T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	373						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R372C(1)|p.R372H(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGGCTGGGGCGCGTCCCTGG	0.468000														21			11		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155449607	155449607	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155449607G>A	uc009wqq.3	-	2	3534	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	ASH1L_uc001fkt.3_Silent_p.L1018L|ASH1L_uc009wqr.1_Silent_p.L1018L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1018					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCGTATTATGGAGTTTGGATT	0.338000														53			17		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188225440	188225440	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:188225440C>T	uc010frt.3	-	8	1049	c.666G>A	c.(664-666)ctG>ctA	p.L222L	CALCRL_uc002upv.4_Silent_p.L222L	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	222						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TACAGCCCATCAGGTAAAGAT	0.378000														19			13		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6539198	6539198	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:6539198C>T	uc001iji.1	-	4	741	c.657G>A	c.(655-657)caG>caA	p.Q219Q	PRKCQ_uc001ijj.2_Silent_p.Q186Q|PRKCQ_uc009xim.2_Silent_p.Q186Q|PRKCQ_uc009xin.2_Silent_p.Q150Q|PRKCQ_uc010qax.2_Silent_p.Q61Q	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	186					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACTGGTAGCCCTGTTTGTTCA	0.388000														42			44		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888039	25888039	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:25888039C>T	uc001isj.3	+	10	3544	c.3484C>T	c.(3484-3486)Cag>Tag	p.Q1162*	GPR158_uc001isk.3_Nonsense_Mutation_p.Q537*	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1162						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						TAATAACTTCCAGCAACCTTT	0.438000														19			10		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198685931	198685931	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:198685931G>A	uc001gur.1	+	12	1586	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	PTPRC_uc001gut.1_Missense_Mutation_p.G308E|PTPRC_uc009wzf.1_Missense_Mutation_p.G357E|PTPRC_uc021pgy.1_Missense_Mutation_p.G423E|PTPRC_uc010ppg.1_Missense_Mutation_p.G405E	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	469	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAACGTAATGGAAGTGCTGCA	0.299000														20			15		0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262741	128262741	+	Silent	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:128262741A>G	uc002ton.2	-	2	1041	c.738T>C	c.(736-738)cgT>cgC	p.R246R	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	246	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGATACGAGGTTTGG	0.522000														89			72		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189608589	189608589	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:189608589G>A	uc003fry.2	+	12	1753	c.1664G>A	c.(1663-1665)aGg>aAg	p.R555K	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.R461K|TP63_uc003fsd.2_Intron|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Missense_Mutation_p.R376K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	555	SAM.				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)		TTCTTAGCGAGGTTGGGCTGT	0.463000										HNSCC(45;0.13)				12			11		0	0	1	0	0
RPL13	6137	broad.mit.edu	37	16	89628065	89628065	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:89628065C>T	uc002fnm.2	+	3	402	c.326C>T	c.(325-327)tCc>tTc	p.S109F	RPL13_uc010vpj.2_Intron|RPL13_uc021tmt.1_Missense_Mutation_p.S90F|RPL13_uc002fnn.2_Missense_Mutation_p.S109F|RPL13_uc002fno.2_Intron	NM_000977	NP_150254	P26373	RL13_HUMAN	Homo sapiens ribosomal protein L13 (RPL13), transcript variant 1, mRNA.	109					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	RNA binding|protein binding|structural constituent of ribosome			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		TCCACGGAGTCCCTGCAGGCC	0.612000														22			17		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969007	87969007	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:87969007C>T	uc003plm.4	+	7	5701	c.5660C>T	c.(5659-5661)tCt>tTt	p.S1887F		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1887					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGCCAGTTTCTGAAATGATA	0.378000														34			11		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30672231	30672231	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:30672231C>T	uc002wxh.3	+	7	957	c.720C>T	c.(718-720)ccC>ccT	p.P240P	HCK_uc010gdy.3_Silent_p.P220P|HCK_uc021wbv.1_Silent_p.P219P|HCK_uc002wxi.3_Silent_p.P218P	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	240	SH2.				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			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)			TGTCGGTGCCCTGCATGTCTT	0.572000														26			17		0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41007379	41007379	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:41007379C>T	uc001cft.2	+	3	486	c.235C>T	c.(235-237)Cca>Tca	p.P79S		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CGAGAGCTCTCCAGGTGAGTG	0.488000														9			4		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180894	96180894	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:96180894G>A	uc001tei.3	-	1	857	c.408C>T	c.(406-408)tcC>tcT	p.S136S	NTN4_uc009ztf.3_Silent_p.S136S|NTN4_uc009ztg.3_Silent_p.S99S	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	136	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCGGCCTGGGGGACTTGAACA	0.517000														20			9		0	0	1	0	0
NAA40	79829	broad.mit.edu	37	11	63719957	63719957	+	Silent	SNP	C	T	T	rs140498456		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:63719957C>T	uc009yoz.3	+	4	457	c.330C>T	c.(328-330)atC>atT	p.I110I	NAA40_uc010rmw.2_Silent_p.I70I|NAA40_uc010rmx.2_Silent_p.I89I|NAA40_uc010rmy.2_5'Flank	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	110	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGTACCTCATCGCGTGGGAAA	0.567000														7			69		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147120147	147120147	+	Silent	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:147120147A>G	uc001epr.2	-	8	1508	c.1044T>C	c.(1042-1044)ttT>ttC	p.F348F		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	348					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATTTGTGGTCAAAAATCCCCA	0.488000														45			20		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28900153	28900153	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:28900153G>A	uc002dro.1	+	8	1158	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R325Q|ATP2A1_uc002drp.1_Missense_Mutation_p.R200Q|ATP2A1_uc010bym.1_Non-coding_Transcript	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	325					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGTACCCGTCGGATGGCAAAG	0.602000														61			50		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574412	22574412	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:22574412C>T	uc002nqt.2	-	3	1747	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GAGTTTCTCTCCAGTATGAAT	0.348000														8			6		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123806238	123806238	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:123806238C>T	uc010tap.2	-	15	2167	c.2167G>A	c.(2167-2169)Ggt>Agt	p.G723S	SBNO1_uc010tao.2_Missense_Mutation_p.G722S|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.G722S|SBNO1_uc001uet.2_Missense_Mutation_p.G723S|SBNO1_uc001uev.2_Missense_Mutation_p.G721S|SBNO1_uc009zxy.1_Missense_Mutation_p.G688S	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	723							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTAAGGCCACCTACTTTTCGT	0.428000														27			27		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60448956	60448956	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:60448956G>A	uc002ybn.2	+	7	1138	c.1050_splice	c.e7+1	p.E350_splice	CDH4_uc002ybr.2_Splice_Site_p.E313_splice|CDH4_uc002ybp.2_Splice_Site_p.E276_splice	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	350	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGACCGAGAGGTGAGGCGGG	0.667000														38			57		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990578	137990578	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:137990578G>A	uc002tva.1	+	7	1932	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.E534E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.C643C(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTGTTCTGAGGACACATTGG	0.517000														30			12		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990228	70990228	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:70990228T>G	uc021rvs.1	-	0	1397	c.1397A>C	c.(1396-1398)gAa>gCa	p.E466A	ADAM20_uc001xme.3_Missense_Mutation_p.E466A	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	416	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTCCCCTTCTTCAACCACTAG	0.438000														36			34		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976644	119976644	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:119976644C>T	uc004bjt.2	-	2	1109	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	336						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACCTTTCTTCTCAAAGTCCA	0.567000														4			102		0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518042	84518042	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:84518042C>T	uc010ffz.1	+	0	237	c.100C>T	c.(100-102)Cca>Tca	p.P34S						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		GCTGTTTGGGCCAGAATCTGG	0.512000														24			15		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911537	67911537	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:67911537T>G	uc002eur.3	+	5	1006	c.767T>G	c.(766-768)gTg>gGg	p.V256G	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.V188G|EDC4_uc002eus.3_5'UTR	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	256					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGCCCAACAGTGGCCCTGCTG	0.622000														34			31		0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55371725	55371725	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:55371725C>G	uc003xsb.4	+	1	619	c.415C>G	c.(415-417)Ccg>Gcg	p.P139A		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	139					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CAAGTACCGGCCGCGGCGGCG	0.731000														6			9		0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19377336	19377336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:19377336G>A	uc002nmd.1	-	8	937	c.887C>T	c.(886-888)cCa>cTa	p.P296L	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	296						integral to membrane		p.P296S(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCCCAGTCTGGAAGCCAGGA	0.582000														46			25		0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16734623	16734623	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:16734623C>T	uc003stj.2	+	7	978	c.816C>T	c.(814-816)atC>atT	p.I272I	BZW2_uc011jxx.1_Silent_p.I78I|BZW2_uc003stl.2_Silent_p.I272I|BZW2_uc003stm.2_Silent_p.I78I|BZW2_uc003sto.1_Silent_p.I120I	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	272	W2.				RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AATGCCCGATCAAGGAGGTGG	0.527000														24			34		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848207	73848207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:73848207C>T	uc003xzb.3	+	2	1205	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	206					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATTGTGCTTTCCACCATTGCT	0.488000														59			58		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10620152	10620152	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:10620152G>A	uc002wnw.2	-	25	4167	c.3651C>T	c.(3649-3651)atC>atT	p.I1217I		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1217					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTGCTATACGATGTACTCCA	0.532000									Alagille Syndrome					143			76		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170735	58170735	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:58170735C>T	uc010rkf.2	-	0	148	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACAGGAATCCCAGAATATC	0.423000														4			47		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696612	20696612	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:20696612G>A	uc002dhm.1	-	1	374	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F102F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	102					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGGTCTGTGTGAAGACGTTGG	0.562000														30			30		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877315	38877315	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:38877315C>T	uc021yzh.1	+	64	9644	c.9535C>T	c.(9535-9537)Cgt>Tgt	p.R3179C	DNAH8_uc003ooe.2_Missense_Mutation_p.R2962C|LOC100131047_uc003oof.2_Intron	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						GTTCCGTGCCCGTTCTTTGAA	0.473000														12			7		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794329	111794329	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:111794329C>T	uc010hqb.2	+	12	1737	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	TMPRSS7_uc011bhr.1_Missense_Mutation_p.H378Y	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	649	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.P522H(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCACTGTTTTCATGGAAACAG	0.532000														66			66		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15113850	15113850	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:15113850C>T	uc001int.2	+	7	1042	c.788C>T	c.(787-789)tCt>tTt	p.S263F	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.S210F	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	210					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TTTGTTGGATCTGAAGACATA	0.308000														32			33		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52782019	52782019	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:52782019G>A	uc001wzr.3	+	0	1004	c.753G>A	c.(751-753)ggG>ggA	p.G251G		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	251						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	gcAGGAGAGGGGAAAGGGTGT	0.642000														22			10		0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427378	71427378	+	Silent	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:71427378A>G	uc004eaq.1	-	1	1336	c.1239T>C	c.(1237-1239)caT>caC	p.H413H	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.H290H	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	413					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GCAGCCTAGGATGATCACACA	0.458000														1			21		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400735	151400735	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:151400735G>A	uc001eyd.2	-	5	1038	c.723C>T	c.(721-723)gtC>gtT	p.V241V	POGZ_uc021oyq.1_Silent_p.V188V|POGZ_uc010pdb.2_Silent_p.V241V|POGZ_uc010pdc.2_Silent_p.V188V|POGZ_uc009wmv.2_Silent_p.V146V|POGZ_uc001eyf.2_Silent_p.V188V|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Silent_p.V241V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	241					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGACTGTGGGACGGTGCTTC	0.597000														106			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179584073G>A	uc021vsy.1	-	79	20537	c.20312C>T	c.(20311-20313)tCa>tTa	p.S6771L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3432L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7698	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6771L(1)		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)			CCAGCCAACTGAAATCGGGGC	0.502000														58			41		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135771901	135771901	+	Silent	SNP	G	C	C	rs118203747		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:135771901G>C	uc004cca.2	-	22	3450	c.3216C>G	c.(3214-3216)gcC>gcG	p.A1072A	TSC1_uc004ccb.3_Silent_p.A1071A|TSC1_uc011mcq.1_Silent_p.A1021A|TSC1_uc011mcr.2_Missense_Mutation_p.P265R	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	1072					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGGGGATGCTGGCAGACGCTT	0.562000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					5			33		0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90782052	90782052	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:90782052G>A	uc003yee.3	+	3	850	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	RIPK2_uc003yef.3_Missense_Mutation_p.R42Q	NM_003821	NP_003812	O43353	RIPK2_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 2 (RIPK2), mRNA.	179	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK 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	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	p.R179*(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCACAGTCACGAAGTAGCAAA	0.393000														67			58		0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91519980	91519980	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:91519980G>A	uc002bqm.3	-	8	1286	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	PRC1_uc002bqn.3_Nonsense_Mutation_p.R377*|PRC1_uc002bqo.3_Nonsense_Mutation_p.R377*|PRC1_uc010uqs.2_Nonsense_Mutation_p.R336*	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	377	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	p.R377*(2)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTTGTAAATCGATTTGGATCT	0.373000														32			34		0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37180534	37180534	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:37180534G>A	uc001wtz.2	-	6	902	c.592C>T	c.(592-594)Cct>Tct	p.P198S	SLC25A21_uc021rsf.1_Missense_Mutation_p.P198S	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	198					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TTATTGACAGGAATCATGTTT	0.373000														18			9		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813765	123813765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:123813765G>A	uc010sab.2	-	0	781	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261H(1)		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)		TCTGACATACGAATGTAGAGA	0.517000														6			55		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140071	54140071	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54140071C>T	uc002qcf.1	+	2	456	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TCCTGTACCCCAACCTCAAGG	0.517000														44			32		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375783	93375784	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:93375783_93375784CC>TT	uc022bjs.1	-	0	326_327	c.326_327GG>AA	c.(325-327)ggg>gAA	p.G109E	DIRAS2_uc004aqx.1_Missense_Mutation_p.G109E	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	109					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TCTCCACGTCCCCTTTGATCTC	0.589000														7			62		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22586296	22586296	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:22586296C>T	uc002nqt.2	-	1	171	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R16S(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AAGGCCACATCCCTAAATGTC	0.393000														27			28		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113846	117113846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:117113846C>T	uc003pxj.1	-	5	2262	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	GPRC6A_uc003pxk.1_Missense_Mutation_p.G572E|GPRC6A_uc003pxl.1_Missense_Mutation_p.G676E	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	747					response to amino acid stimulus		G-protein coupled receptor activity	p.G747E(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGTATGGATCCCTCCTCACA	0.453000														13			6		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56863296	56863296	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:56863296G>A	uc003xsk.4	+	5	722	c.440G>A	c.(439-441)gGa>gAa	p.G147E	LYN_uc003xsl.4_Missense_Mutation_p.G126E	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	147	SH2.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TTGGCACCAGGAAATAGCGCT	0.373000														37			14		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287924	46287924	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:46287924G>A	uc001van.1	+	2	844	c.764G>A	c.(763-765)cGc>cAc	p.R255H	SPERT_uc001vao.2_Missense_Mutation_p.R219H	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	255						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GAGGAGAATCGCGCGCTGCAG	0.692000														8			6		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053779	97053779	+	Splice_Site	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:97053779T>C	uc003pos.2	+	5	751	c.335_splice	c.e5-1	p.G112_splice	FHL5_uc003pot.2_Splice_Site_p.G112_splice	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	112	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GGAGTACAGGTTCCCGCAAAA	0.348000														14			15		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628409	173628409	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:173628409C>T	uc001gja.1	-	1	210	c.149G>A	c.(148-150)gGt>gAt	p.G50D	ANKRD45_uc001gjb.4_Missense_Mutation_p.G50D	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	66										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTTCTGCAAACCCTCTACATC	0.453000														25			12		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71853498	71853498	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:71853498C>T	uc001jqm.3	+	4	944	c.485C>T	c.(484-486)cCa>cTa	p.P162L		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	162					chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAGTCCAAACCAAAGGACAGC	0.463000														10			13		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987870	22987870	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:22987870G>A	uc001bgd.3	+	2	885	c.753G>A	c.(751-753)atG>atA	p.M251I		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	251	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCCAGATATGGAGGCCTGAC	0.597000														33			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223141	140223141	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140223141G>A	uc003lhs.2	+	0	2235	c.2235G>A	c.(2233-2235)gtG>gtA	p.V745V	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_uc003lhr.1_Silent_p.V745V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	782					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)			CCAGTGCGGTGGGGAGCTGGT	0.667000														25			25		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163292034	163292034	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:163292034C>T	uc002uch.2	-	7	1857	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	KCNH7_uc002uci.3_Missense_Mutation_p.R536Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	543					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCTGAATATCGATCCAGTTT	0.453000														23			15		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764013	77764013	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:77764013C>G	uc003yau.2	+	9	5243	c.4856C>G	c.(4855-4857)aCa>aGa	p.T1619R	ZFHX4_uc003yaw.1_Missense_Mutation_p.T1574R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1574						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCCACCAGACAAAGGCTAGG	0.517000										HNSCC(33;0.089)				20			18		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141607508	141607508	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:141607508C>T	uc010ioj.3	-	2	622	c.350G>A	c.(349-351)gGa>gAa	p.G117E		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	117						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGTATTTTTCCTCTCACAAA	0.318000														32			27		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189899663	189899663	+	Silent	SNP	G	A	A	rs138837670		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:189899663G>A	uc002uqk.3	-	52	4607	c.4332C>T	c.(4330-4332)atC>atT	p.I1444I	COL5A2_uc010frx.3_Silent_p.I1020I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1444	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTGAAGAACGATATACCGGA	0.343000														25			18		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102546733	102546733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:102546733G>A	uc001krk.4	+	5	1200	c.650G>A	c.(649-651)gGa>gAa	p.G217E	PAX2_uc001krm.4_Missense_Mutation_p.G217E|PAX2_uc001krn.4_Intron|PAX2_uc001kro.4_Intron|PAX2_uc010qps.2_Intron|PAX2_uc001krl.4_Intron|PAX2_uc001krp.1_Intron	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	217					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CACATTAGAGGAGGTGGAGGT	0.522000											OREG0002760	type=REGULATORY REGION|Gene=PAX2(intragenic)|Dataset=Vista Enhancers|EvidenceSubtype=In-vivo LacZ Expression Assay		18			6		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878118	5878118	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:5878118T>A	uc010qzr.2	-	0	815	c.815A>T	c.(814-816)aAt>aTt	p.N272I	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTGGGATATTATGGCCAAA	0.403000														7			73		0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671193	131671193	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:131671193C>T	uc004bwl.4	+	2	2004	c.1750C>T	c.(1750-1752)Ctc>Ttc	p.L584F	LRRC8A_uc010myp.3_Missense_Mutation_p.L584F|LRRC8A_uc010myq.3_Missense_Mutation_p.L584F	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	584					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCTCATCGTCCTCAACAGCCT	0.572000														2			45		0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60601685	60601685	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:60601685C>T	uc010ddp.3	+	5	624	c.356C>T	c.(355-357)cCc>cTc	p.P119L	TLK2_uc002izx.4_5'UTR|TLK2_uc002izz.4_Missense_Mutation_p.P119L|TLK2_uc002jaa.4_Intron|TLK2_uc010wpd.2_Intron	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	119					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTATCCAATCCCTTACCGGTA	0.502000														8			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281357	152281357	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152281357C>T	uc001ezu.1	-	2	6041	c.6005G>A	c.(6004-6006)gGa>gAa	p.G2002E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2002	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)			ATGTCTTTCTCCTGCACTTGA	0.547000									Ichthyosis					724			178		0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84229646	84229646	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:84229646C>T	uc002fhq.2	+	7	1638	c.1524C>T	c.(1522-1524)atC>atT	p.I508I	ADAD2_uc002fhr.2_Silent_p.I426I|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	426	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCAGCCTCATCCTGGGTGAGC	0.667000														20			26		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31621780	31621780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:31621780G>A	uc003akh.3	+	1	236	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	LIMK2_uc003aki.3_Missense_Mutation_p.E31K	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	31	LIM zinc-binding 1.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.E31K(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GACTGTCAACGAAACCTGGCA	0.512000														11			5		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149602590	149602590	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:149602590G>A	uc003lru.2	-	16	1610	c.1395C>T	c.(1393-1395)gtC>gtT	p.V465V	CAMK2A_uc003lrt.2_Silent_p.V476V	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	465					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGAAGTGGACGATCTGCC	0.637000														47			38		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320800	52320800	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:52320800G>A	uc003xqu.4	-	16	3485	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1128					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATAAGCCGCGGAGAAGAGCC	0.567000														34			37		0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005350	150005350	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:150005350G>A	uc003qmu.1	-	3	1423	c.875C>T	c.(874-876)cCa>cTa	p.P292L	LATS1_uc010kif.1_Missense_Mutation_p.P187L|LATS1_uc003qmv.2_Missense_Mutation_p.P292L|LATS1_uc003qmw.3_Missense_Mutation_p.P292L|LATS1_uc010kig.1_Missense_Mutation_p.P187L	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	292					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGCCCCAGGTGGGACAGGAGA	0.502000														41			32		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43170918	43170918	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:43170918G>A	uc003ouk.3	+	17	3900	c.3825G>A	c.(3823-3825)caG>caA	p.Q1275Q	CUL9_uc003oul.3_Silent_p.Q1275Q|CUL9_uc010jyk.3_Silent_p.Q427Q	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1275	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCATCATCCAGATCCGCATAA	0.582000														24			16		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996085	19996085	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:19996085G>A	uc002ktv.1	-	0	1794	c.1690C>T	c.(1690-1692)Ctg>Ttg	p.L564L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	564						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGGTGCCAGGGGCCCAGCG	0.507000														22			19		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97057618	97057618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:97057618G>A	uc021rcc.1	+	5	824	c.746G>A	c.(745-747)cGa>cAa	p.R249Q				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	249								p.R249Q(2)		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						ATAACTTGCCGAAATTTCATT	0.308000														20			14		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255022	51255022	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:51255022G>A	uc021vhh.1	-	0	1311	c.390C>T	c.(388-390)atC>atT	p.I130I	NRXN1_uc021vhg.1_Silent_p.I130I|NRXN1_uc021vhi.1_Silent_p.I130I|NRXN1_uc021vhj.1_Silent_p.I130I|NRXN1_uc021vhk.1_Silent_p.I130I	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	130	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCACCTGGTCGATGAAGAGCG	0.682000														15			15		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163717	159163717	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:159163717C>T	uc001ftl.2	+	4	757	c.578C>T	c.(577-579)tCg>tTg	p.S193L	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.S227L	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	193	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.S227L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTCAGCAGCTCGGTGACATTC	0.522000														15			21		0	0	1	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034835	107034835	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:107034835G>A	uc001ysz.3	-	1	274	c.245C>T	c.(244-246)tCc>tTc	p.S82F	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		GCCTTGGAAGGACGGGCTGTA	0.592000														29			42		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420144	49420144	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:49420144C>T	uc001jgi.3	-	12	1795	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E	FRMPD2_uc001jgh.3_Silent_p.E456E|FRMPD2_uc001jgj.3_Silent_p.E457E	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	488	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATGGCTTACTCTCCACCTGCT	0.507000														12			7		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739041	119739041	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:119739041G>A	uc002tln.1	+	8	955	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	MARCO_uc010yyf.1_Missense_Mutation_p.A197T	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	275	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCCTCCTGGAGCCCAGGGGAG	0.517000														6			7		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212557	50212557	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:50212557C>T	uc001zxu.3	-	17	1951	c.1809G>A	c.(1807-1809)ctG>ctA	p.L603L	ATP8B4_uc010ber.3_Silent_p.L476L|ATP8B4_uc010ufd.2_Silent_p.L413L|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	603					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTTGTCATCCAGGTCTCTGT	0.453000														5			21		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864593	13864594	+	Missense_Mutation	DNP	GG	AA	AA	rs138157585	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13864593_13864594GG>AA	uc003jfd.2	-	27	4550_4551	c.4508_4509CC>TT	c.(4507-4509)acc>aTT	p.T1503I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1503	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTGTGCCCGGTGAGGGTGGT	0.455000									Kartagener syndrome					18			13		0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7947339	7947339	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:7947339C>T	uc009zfy.1	+	3	782	c.566C>T	c.(565-567)cCg>cTg	p.P189L		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	189					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTGGTGAACCCGACTGGGAAC	0.532000														15			4		0	0	1	0	0
UBTD2	92181	broad.mit.edu	37	5	171639123	171639123	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:171639123A>T	uc003mbp.1	-	2	542	c.416T>A	c.(415-417)cTg>cAg	p.L139Q		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA.	139						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGAATATCCAGAGTCTCTAT	0.488000														46			25		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100887879	100887879	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:100887879G>A	uc003yiv.3	+	61	12165	c.12054G>A	c.(12052-12054)agG>agA	p.R4018R	VPS13B_uc003yiw.3_Silent_p.R3993R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	4018					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGCCCTGAGGAAAGGGTTTC	0.443000														24			20		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39047471	39047471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:39047471C>T	uc003ooj.4	+	10	1235	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	392					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCCTTCACCTCCTTCCAGGTG	0.552000														9			24		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44107417	44107417	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:44107417C>T	uc003bdy.2	-	9	1283	c.969G>A	c.(967-969)aaG>aaA	p.K323K	EFCAB6_uc003bdz.2_Silent_p.K171K|EFCAB6_uc010gzi.2_Silent_p.K171K|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Silent_p.K217K|EFCAB6_uc003bea.2_Silent_p.K320K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	323	EF-hand 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CGAGGACAATCTTTAGATAAT	0.373000														23			9		0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21615726	21615726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:21615726C>T	uc001rew.3	+	9	1173	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	PYROXD1_uc009ziq.3_Missense_Mutation_p.S90F	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	349							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ATGCACACATCCCTTCCTGAT	0.418000														18			14		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791071	15791071	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:15791071G>A	uc002nbl.3	+	3	480	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CYP4F12_uc010xoo.2_Missense_Mutation_p.D121N|CYP4F12_uc010xop.2_Missense_Mutation_p.D121N	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCACCCAAGGATAATCTCTT	0.567000														84			66		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2985562	2985562	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:2985562C>T	uc003smv.3	-	3	583	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	83	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCTTTGCCCCTTGGTATGTA	0.488000			Mis		DLBCL									124			90		0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196083597	196083597	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:196083597G>A	uc003fwm.4	-	10	1504	c.1429C>T	c.(1429-1431)Ctt>Ttt	p.L477F	UBXN7_uc003fwn.4_Missense_Mutation_p.L329F|UBXN7_uc010iae.3_Missense_Mutation_p.L315F	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	477	UBX.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGAGGACAAAGGCCTGCCTCT	0.413000														27			22		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891980	18891980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:18891980C>T	uc001rdy.3	+	0	936	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	260					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.D259Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACGAAGGGATCTTCCAGTGAC	0.408000														25			16		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079275	1079275	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:1079275G>A	uc002qwq.3	+	1	273	c.144G>A	c.(142-144)acG>acA	p.T48T	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.T48T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	48					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAAGCTGACGAAAGAGGTGC	0.468000														32			29		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604852	90604852	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:90604852C>T	uc011eaa.2	+	0	665	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	222					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAGCCATTTCCTTGTTACTC	0.413000														45			26		0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629554	9629554	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:9629554C>T	uc003jem.1	-	0	910	c.591G>A	c.(589-591)ttG>ttA	p.L197L		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	197					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGAGAAAATCAAGAGCAAAA	0.488000														25			16		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956541	188956541	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:188956541G>A	uc003frv.2	+	8	1549	c.322G>A	c.(322-324)Gag>Aag	p.E108K	TPRG1_uc003frw.2_Missense_Mutation_p.E108K	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	108										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTGGAACAATGAGAAGGAGAG	0.423000														28			24		0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335410	335410	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:335410G>A	uc002cgn.1	+	10	2002	c.894G>A	c.(892-894)ggG>ggA	p.G298G	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Silent_p.G298G|PDIA2_uc010bqt.1_Silent_p.G143G	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	298					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGGCTTTGGGGAGGCAGCTC	0.672000														10			6		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63411348	63411348	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:63411348C>A	uc022byb.1	-	0	1819	c.1819G>T	c.(1819-1821)Gaa>Taa	p.E607*	FAM123B_uc004dvo.3_Nonsense_Mutation_p.E607*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	607					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GCATAGGCTTCCCTGCCATAA	0.637000														2			9		0.000673444	0.000676171	1	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17363326	17363326	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:17363326T>A	uc001ipd.3	-	7	748	c.748A>T	c.(748-750)Aaa>Taa	p.K250*	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	250					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGGGCTTTTTTTTCCTTTAAG	0.348000														14			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434308	179434308	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179434308C>T	uc021vsy.1	-	274	69072	c.68847G>A	c.(68845-68847)agG>agA	p.R22949R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R16644R|TTN_uc021vta.1_Silent_p.R16577R|TTN_uc021vtb.1_Silent_p.R16452R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23876	Fibronectin type-III 66.						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)			TTATGATTTTCCTTAGTTCTA	0.393000														9			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370876	126370876	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:126370876G>A	uc003ifj.4	+	8	8705	c.8705G>A	c.(8704-8706)gGa>gAa	p.G2902E	FAT4_uc011cgp.2_Missense_Mutation_p.G1200E|FAT4_uc003ifi.1_Missense_Mutation_p.G380E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2902	Cadherin 28.				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						CCTGATGAGGGATCAAATGGA	0.358000														43			25		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133065543	133065543	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:133065543C>T	uc003qdt.3	-	6	1470	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	VNN2_uc003qds.3_Missense_Mutation_p.D196N|VNN2_uc010kgb.3_Missense_Mutation_p.D266N|VNN2_uc003qdv.3_Missense_Mutation_p.D434N	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	487					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TAAAGTGAGTCCTTTGTGTAC	0.383000														21			22		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834554	107834554	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:107834554G>A	uc022aka.1	-	13	1798	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S	NRCAM_uc011kmk.2_Silent_p.S564S|NRCAM_uc003vfd.3_Silent_p.S545S|NRCAM_uc003vfe.3_Silent_p.S545S|NRCAM_uc003vfc.3_Silent_p.S558S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	564	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGCATTCAAAGGACACCATGC	0.453000														57			58		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134851628	134851628	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:134851628C>T	uc003eqt.3	+	4	1409	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Nonsense_Mutation_p.Q234*|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	345	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGCACCCTCCAAGGGAGACA	0.572000														9			13		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55028623	55028623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:55028623C>T	uc001sgi.1	-	0	41	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	1					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TGGTAAATTTCATTCTTTGGG	0.512000														24			20		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50833650	50833650	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:50833650G>A	uc001jhz.2	+	5	1037	c.884G>A	c.(883-885)aGc>aAc	p.S295N	CHAT_uc001jhv.1_Missense_Mutation_p.S177N|CHAT_uc001jhx.1_Missense_Mutation_p.S177N|CHAT_uc001jhy.1_Missense_Mutation_p.S177N|CHAT_uc001jia.2_Missense_Mutation_p.S213N|CHAT_uc010qgs.1_Missense_Mutation_p.S177N	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	295					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCTCAGAACAGCAGCATCATG	0.592000														3			3		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887657	3887657	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:3887657C>T	uc003bpt.4	+	1	2093	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.F444F	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	444	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CGACGGTTTTCCTAGACTGTC	0.448000														19			18		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549926	205549926	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:205549926G>A	uc001hcv.4	+	2	653	c.567G>A	c.(565-567)agG>agA	p.R189R	MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.R134R	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	189					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATGTCTCCAGGGTGCTGGGCC	0.617000														24			32		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70707808	70707808	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:70707808C>T	uc003heo.3	-	7	902	c.789G>A	c.(787-789)tgG>tgA	p.W263*		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	263					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AGTGATTTTTCCAGTCTCCTG	0.313000														21			13		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961252	30961252	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:30961252G>A	uc002yno.1	-	10	1940	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	GRIK1_uc002ynn.3_Silent_p.F477F|GRIK1_uc011acs.2_Silent_p.F492F|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Silent_p.F335F	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	492					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.A491D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCATAAATGAAACCCAGGA	0.393000														43			22		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207615746	207615746	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:207615746G>A	uc002vbs.3	-	5	1019	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.L322L|MDH1B_uc021vvm.1_Silent_p.L224L	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	322					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTTTTTCTCAGATCAACGTAA	0.323000														26			18		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846060	130846060	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:130846060C>T	uc001uik.3	+	15	2155	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	PIWIL1_uc001uij.2_Silent_p.I628I	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	628	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGTGATGATCGTTGGCATCG	0.418000														38			18		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113233820	113233820	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:113233820C>T	uc010mtz.3	-	15	3159	c.2822G>A	c.(2821-2823)cGa>cAa	p.R941Q	SVEP1_uc010mua.1_Missense_Mutation_p.R941Q	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	941					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGAAGGAGTCGTTGCTGATT	0.378000														1			16		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802139	66802139	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:66802139G>A	uc009yrl.3	+	2	288	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SYT12_uc001oju.3_Missense_Mutation_p.E20K	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	20						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCCTGGCTGGGAGGTGGGTGT	0.647000														5			45		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155239494	155239494	+	Missense_Mutation	SNP	G	A	A	rs146292560	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155239494G>A	uc001fjy.3	-	2	474	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	CLK2_uc001fjw.3_Missense_Mutation_p.R62C|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Missense_Mutation_p.R62C	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	62						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGGACGAACGATCATCATAA	0.498000								Other conserved DNA damage response genes						87			33		0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426900	6426900	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:6426900A>T	uc003spx.3	+	1	334	c.93A>T	c.(91-93)gaA>gaT	p.E31D	RAC1_uc003spw.3_Missense_Mutation_p.E31D|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	31					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TTCCTGGAGAATATATCCCTA	0.358000														66			42		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676975	234676975	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:234676975G>A	uc002vuw.3	+	3	1197	c.1197G>A	c.(1195-1197)atG>atA	p.M399I	UGT1A1_uc010zmv.1_Missense_Mutation_p.M395I|UGT1A1_uc002vup.3_Missense_Mutation_p.M395I|UGT1A1_uc002vuq.3_Missense_Mutation_p.M395I|UGT1A1_uc002vur.3_Missense_Mutation_p.M395I|UGT1A1_uc010zmw.1_Missense_Mutation_p.M395I|UGT1A1_uc002vus.3_Missense_Mutation_p.M395I|UGT1A1_uc010zmx.1_Missense_Mutation_p.M395I|UGT1A1_uc002vut.3_Missense_Mutation_p.M395I|UGT1A1_uc002vuu.3_Missense_Mutation_p.M130I|UGT1A1_uc010zmy.1_Missense_Mutation_p.M397I|UGT1A1_uc002vuv.4_Missense_Mutation_p.M397I|UGT1A1_uc010zmz.1_Missense_Mutation_p.M399I|UGT1A1_uc010zna.1_Missense_Mutation_p.M399I|UGT1A1_uc002vux.3_Missense_Mutation_p.M399I|UGT1A1_uc010znb.1_Missense_Mutation_p.M399I|UGT1A1_uc002vuy.3_Missense_Mutation_p.M399I|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Missense_Mutation_p.M398I|UGT1A1_uc002vvb.3_Missense_Mutation_p.M398I	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	398					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTGATCAGATGGACAATGCAA	0.458000														31			23		0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554123	223554123	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:223554123C>T	uc010fws.1	+	2	461	c.413C>T	c.(412-414)tCa>tTa	p.S138L	MOGAT1_uc010fwt.1_Missense_Mutation_p.S98L	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	138					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GGCTTTACTTCATATCTTCAC	0.428000														36			26		0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59061522	59061522	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:59061522C>T	uc002qtg.1	+	15	2491	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	TRIM28_uc010eut.1_Silent_p.P652P|TRIM28_uc002qth.1_Silent_p.P349P	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	734	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGGACCAGCCCGGTGGCACCC	0.607000														14			12		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765611	50765611	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:50765611C>T	uc021vhh.1	-	8	2844	c.1923G>A	c.(1921-1923)gtG>gtA	p.V641V	NRXN1_uc002rxb.4_Silent_p.V313V|NRXN1_uc021vhg.1_Silent_p.V681V|NRXN1_uc021vhi.1_Silent_p.V677V|NRXN1_uc021vhj.1_Silent_p.V637V|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	641	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.V681V(1)|p.V682V(1)|p.V641V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGATGCAGCCCACGTAGCCAT	0.522000														88			58		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45864786	45864786	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:45864786G>A	uc002pbj.2	-	11	1280	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A	ERCC2_uc002pbh.2_5'Flank|ERCC2_uc002pbi.2_Silent_p.A104A|ERCC2_uc010ejz.2_Silent_p.A333A|ERCC2_uc002pbk.2_Silent_p.A387A|ERCC2_uc002pbl.4_Silent_p.A387A	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	411					UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCTTACCTTTGGCGTAGGTGC	0.587000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					25			23		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619460	141619460	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:141619460C>T	uc003vwu.1	+	0	785	c.785C>T	c.(784-786)cCc>cTc	p.P262L		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TACGTGAAACCCAAGCAAACG	0.498000														36			42		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100148193	100148193	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:100148193G>A	uc001kpc.3	-	12	1451	c.1365C>T	c.(1363-1365)tcC>tcT	p.S455S	PYROXD2_uc001kpb.3_Intron	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	455							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGTGAAGAGGGAGACTACAT	0.612000														10			7		0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101432059	101432059	+	RNA	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:101432059G>A	uc003dvj.3	+	0		c.782G>A								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		ATCACATGCCGAACTTTCTTG	0.388000														5			4		0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45297383	45297383	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:45297383G>A	uc002ilg.3	+	3	405	c.277G>A	c.(277-279)Gag>Aag	p.E93K	MYL4_uc002ilh.3_Missense_Mutation_p.E93K	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	93					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						TACCAATGCCGAGGTGCTGCG	0.617000														19			11		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62195239	62195239	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:62195239C>T	uc002yfm.2	-	8	5828	c.4936G>A	c.(4936-4938)Gcg>Acg	p.A1646T	PRIC285_uc002yfl.1_Missense_Mutation_p.A1077T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1646					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGGCCGAACGCCGAGCGCTCC	0.687000														9			5		0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20914557	20914557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:20914557G>A	uc002gym.4	-	7	1214	c.1010C>T	c.(1009-1011)cCa>cTa	p.P337L	USP22_uc002gyn.4_Missense_Mutation_p.P325L|USP22_uc002gyl.4_Missense_Mutation_p.P232L	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	337					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGCCAGAATGGGGTGGAAGA	0.617000														6			5		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255117	30255117	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:30255117G>A	uc001msl.3	+	3	229	c.160_splice	c.e3-1	p.D54_splice	FSHB_uc001msm.3_Splice_Site_p.D54_splice|FSHB_uc001msn.3_Splice_Site_p.D54_splice	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	54					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AACTCCTCAGGATCTGGTGTA	0.428000														6			15		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161771200	161771200	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:161771200G>A	uc021zhu.1	-	12	1561	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Silent_p.L252L|PARK2_uc003qtx.4_Silent_p.L443L|PARK2_uc021zhs.1_Silent_p.L365L|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.L415L|PARK2_uc003qtz.4_Silent_p.L294L|PARK2_uc021zhv.1_Silent_p.L364L|PARK2_uc021zhw.1_Silent_p.L252L|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.L393L|PARK2_uc011egf.2_Silent_p.L117L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	443					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)		AGCACCACTCGAGCCTGCACT	0.627000														14			6		0	0	1	0	0
FGF20	26281	broad.mit.edu	37	8	16853181	16853181	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:16853181C>T	uc003wxc.1	-	1	506	c.373G>A	c.(373-375)Gga>Aga	p.G125R	FGF20_uc010lsw.1_Intron	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	125					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	p.G125E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TAGAGTTCTCCTTTGTCATTC	0.323000														10			12		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974850	49974850	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:49974850G>A	uc010rhz.2	+	0	908	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGCTCAAATGAAAAATGCCA	0.383000														1			27		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080427	54080427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54080427C>T	uc002qbx.1	+	6	2047	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	ZNF331_uc002qby.1_Missense_Mutation_p.H205Y|ZNF331_uc002qbz.1_Missense_Mutation_p.H205Y|ZNF331_uc010eqr.1_Missense_Mutation_p.H205Y|ZNF331_uc002qca.1_Missense_Mutation_p.H205Y|ZNF331_uc021uzg.1_Missense_Mutation_p.H205Y|ZNF331_uc021uzh.1_Missense_Mutation_p.H205Y|ZNF331_uc002qcb.1_Missense_Mutation_p.H205Y|ZNF331_uc002qcc.1_Missense_Mutation_p.H205Y|ZNF331_uc002qcd.1_Missense_Mutation_p.H205Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CCTCGTTATTCATAAGAGGAT	0.453000			T	?	follicular thyroid adenoma									37			22		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651747	7651747	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:7651747C>T	uc001qsz.3	-	3	623	c.495G>A	c.(493-495)ggG>ggA	p.G165G	CD163_uc001qta.3_Silent_p.G165G|CD163_uc009zfw.2_Silent_p.G165G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	165	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AACACATATTCCCTCCACGCG	0.403000														80			61		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201507521	201507521	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:201507521G>A	uc002uvx.3	+	24	2945	c.2844G>A	c.(2842-2844)gaG>gaA	p.E948E	AOX1_uc010zhf.2_Silent_p.E504E|AOX1_uc010fsu.3_Silent_p.E314E	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	948					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	p.E948Q(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TATCCCCTGAGAAGGTAATAC	0.493000														20			15		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600549	29600549	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:29600549C>T	uc001usl.4	+	0	1802	c.1744C>T	c.(1744-1746)Cca>Tca	p.P582S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	572						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTTGGTAGTTCCACCCCCTAC	0.532000														36			25		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3653441	3653441	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:3653441G>A	uc002lyj.2	-	6	857	c.768C>T	c.(766-768)ggC>ggT	p.G256G	PIP5K1C_uc010xhq.2_Silent_p.G256G|PIP5K1C_uc010xhr.2_Silent_p.G256G	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	256	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGTAGGTGGAGCCCTTGAGGT	0.602000														25			26		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165439	139165439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:139165439G>A	uc003yuy.3	-	12	1450	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	FAM135B_uc003yux.3_Missense_Mutation_p.P328S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_5'UTR|FAM135B_uc003yvb.3_5'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	427										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCAAAATTAGGATAAACACTC	0.294000										HNSCC(54;0.14)				16			6		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516462	1516462	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:1516462G>A	uc003skn.2	-	35	5132	c.5031C>T	c.(5029-5031)atC>atT	p.I1677I		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1677					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCAGGACTCGGATGCACTGGT	0.657000														14			13		0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249287	71249287	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:71249287C>T	uc001oqr.1	+	0	217	c.186C>T	c.(184-186)tcC>tcT	p.S62S		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	62	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCCGTGGCTCCTGTGGGGGCT	0.657000														13			233		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114057	56114057	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:56114057C>G	uc010rjg.2	+	0	543	c.543C>G	c.(541-543)agC>agG	p.S181R		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACATAATCAGCTATTTTTACT	0.358000										HNSCC(65;0.19)				7			66		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658413	33658413	+	Missense_Mutation	SNP	G	A	A	rs144000005		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:33658413G>A	uc003jia.1	-	6	1229	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R356C	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	356	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N355I(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						TCGCAGGGGCGATTGAAACCA	0.498000										HNSCC(64;0.19)				38			37		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701415	13701415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13701415C>T	uc003jfd.2	-	76	13511	c.13469G>A	c.(13468-13470)gGa>gAa	p.G4490E	DNAH5_uc003jfc.2_Missense_Mutation_p.G658E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4490					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G4490G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTTAAAAATCCCTGGGGGTT	0.408000									Kartagener syndrome					32			29		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666631	50666631	+	Silent	SNP	C	T	T	rs138724011		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:50666631C>T	uc001csb.2	+	6	1192	c.924C>T	c.(922-924)tcC>tcT	p.S308S	ELAVL4_uc001cry.3_Silent_p.S297S|ELAVL4_uc001crz.3_Silent_p.S294S|ELAVL4_uc001csa.3_Silent_p.S311S|ELAVL4_uc001csc.3_Silent_p.S294S|ELAVL4_uc010omz.2_Silent_p.S299S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	308	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.S308S(2)|p.S311S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CCCCCGATTCCGATGAGAGTG	0.502000														29			31		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793676	13793676	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13793676G>A	uc003jfd.2	-	48	8214	c.8172C>T	c.(8170-8172)ttC>ttT	p.F2724F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2724	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F2724L(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAAATATAGAGAACTGCCTCT	0.502000									Kartagener syndrome					41			24		0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10263534	10263534	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:10263534C>T	uc021vdr.1	+	2	426	c.375C>T	c.(373-375)ccC>ccT	p.P125P		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	65					DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CAGCTGCCCCCGGCGTGGAGG	0.493000														27			19		0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381320	102381320	+	Silent	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:102381320A>G	uc003ykc.1	+	0	200	c.183A>G	c.(181-183)gaA>gaG	p.E61E	NACAP1_uc010mbs.1_Non-coding_Transcript					Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA.																		TTGATGAAGAACCAGTCAGTA	0.473000														32			27		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926203	1926203	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:1926203C>T	uc002qxe.3	-	9	2165	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K	MYT1L_uc002qxd.3_Silent_p.K446K|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	446					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCTCATGGCCTTTGCTCTTT	0.547000														47			43		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119469231	119469231	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:119469231C>T	uc001ehl.1	-	2	420	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	141						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGGAAACATCCTCCTATGAA	0.403000														8			17		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14758153	14758153	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:14758153G>A	uc002mzi.4	-	7	870	c.722C>T	c.(721-723)tCa>tTa	p.S241L	EMR3_uc010dzp.3_Missense_Mutation_p.S189L|EMR3_uc010xnv.2_Missense_Mutation_p.S115L	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	241					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGAAGAATATGAGATAAAGGC	0.338000														24			9		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143713811	143713811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:143713811C>T	uc010fnm.3	+	6	691	c.475C>T	c.(475-477)Ctt>Ttt	p.L159F	KYNU_uc002tvk.3_Missense_Mutation_p.L159F|KYNU_uc002tvl.3_Missense_Mutation_p.L159F	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	159					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATATAAAATTCTTCTAGAAGC	0.313000														18			14		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822129	93822129	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:93822129G>A	uc001pep.2	+	11	2446	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	763	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACGCAAGAGGGGAAAGGTACC	0.532000														7			31		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398253	89398253	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:89398253C>T	uc010upo.1	+	11	2811	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	ACAN_uc010upp.1_Missense_Mutation_p.P813S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	813					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCATTCCCCTCAGTGGA	0.607000														7			4		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76054489	76054489	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:76054489G>A	uc003ufd.4	+	0	218	c.208G>A	c.(208-210)Gac>Aac	p.D70N	ZP3_uc003ufc.4_Missense_Mutation_p.D19N	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	70	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CAGGGCTGCTGACCTCACCTT	0.577000														29			22		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9967548	9967548	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9967548G>A	uc002mmp.3	-	4	650	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	208	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCCATGGCCCGAACGGTGATG	0.652000														9			4		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139724423	139724423	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:139724423G>A	uc003vvl.1	-	11	2917	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	681	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	p.S680T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCGAGGGCTTGGAGGAGGTGG	0.567000														42			25		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180420075	180420075	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:180420075C>T	uc003mmr.3	+	1	496	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	104					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TAAAAAACATCACTCCCTCGG	0.522000														5			4		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168176487	168176487	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:168176487G>A	uc010jjg.3	-	18	2547	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	SLIT3_uc003mab.3_Silent_p.F709F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	709	LRRCT 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCACAGGTGAAGTCCTGGA	0.547000														32			28		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39379418	39379418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:39379418C>T	uc003thb.2	+	5	832	c.689C>T	c.(688-690)cCc>cTc	p.P230L	POU6F2_uc022acb.1_Missense_Mutation_p.P230L|POU6F2_uc010kxo.3_Missense_Mutation_p.P222L	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	230	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						cagccaccacccgcctctcag	0.687000														6			6		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436237	158436237	+	Missense_Mutation	SNP	G	A	A	rs142494640		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:158436237G>A	uc010pij.2	+	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGAAATAAGGAATTCAAATC	0.378000														26			53		0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67858669	67858669	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:67858669C>T	uc010vka.2	+	5	741	c.665C>T	c.(664-666)tCa>tTa	p.S222L	TSNAXIP1_uc010cep.2_Missense_Mutation_p.S32L|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.S153L|TSNAXIP1_uc002eug.4_5'UTR|TSNAXIP1_uc002euh.4_5'UTR|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Missense_Mutation_p.S168L|TSNAXIP1_uc002euk.3_5'UTR	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	168					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GAGAAGATTTCATTGCAGAGC	0.478000														15			3		0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161127075	161127075	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:161127075C>T	uc001fyd.4	+	2	477	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	USP21_uc010pkc.2_5'Flank|USP21_uc010pkd.2_5'Flank	NM_016406	NP_057490	Q9Y3C8	UFC1_HUMAN	Homo sapiens ubiquitin-fold modifier conjugating enzyme 1 (UFC1), mRNA.	75					protein ufmylation		UFM1 conjugating enzyme activity|protein binding			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TATCCATGACCTCCTGAAATA	0.413000														92			35		0	0	1	0	0
RND3	390	broad.mit.edu	37	2	151326666	151326666	+	Silent	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:151326666A>G	uc002txg.3	-	5	755	c.570T>C	c.(568-570)ttT>ttC	p.F190F	RND3_uc002txe.3_Silent_p.F190F|RND3_uc010zbv.2_Intron	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	190					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGGCAACGTGAAAAATGTCTC	0.433000														49			30		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533290	88533290	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:88533290G>A	uc003hqu.3	+	2	205	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	29					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGACATGTCGAAAAATCCAT	0.368000														15			7		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107847066	107847066	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:107847066C>T	uc003hyi.3	-	1	968	c.263G>A	c.(262-264)aGg>aAg	p.R88K	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.R88K	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	88	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTGGCAATACCTCCCAACTTC	0.512000														30			28		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27152555	27152555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:27152555G>A	uc010sjl.2	-	2	539	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	101						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCTGGTCTAAGGATGAAAACC	0.468000														22			22		0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72725603	72725603	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:72725603C>A	uc010fep.3	-	12	1455	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	EXOC6B_uc002sij.2_Missense_Mutation_p.K439N	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	439					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTGCCCACTTCTTTAGCAGAG	0.353000														3			10		5.50884e-06	5.54799e-06	1	1	0
CYP2C19	1557	broad.mit.edu	37	10	96602605	96602605	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:96602605G>A	uc010qnz.2	+	6	973	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CYP2C19_uc010qny.2_Missense_Mutation_p.E303K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	325					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.Q324R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TAAAGTCCAGGAAGAGATTGA	0.488000														33			40		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653718	159653718	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:159653718G>A	uc010kjv.3	+	10	2374	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	FNDC1_uc010kjw.1_Missense_Mutation_p.G610E	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	725	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCCATGGGGGATCATCTCGG	0.652000														13			16		0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094462	72094462	+	Silent	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:72094462T>C	uc002fbr.4	+	6	938	c.894T>C	c.(892-894)taT>taC	p.Y298Y	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.Y239Y|HP_uc021tld.1_Silent_p.Y239Y|HP_uc002fbt.4_Silent_p.Y239Y|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	298	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ATCTGAAGTATGTCATGCTGC	0.493000														19			15		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346756	102346756	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:102346756C>T	uc010utr.2	+	0	834	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGCAGTTATCACTCCCGTTT	0.358000														31			25		0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47294040	47294040	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:47294040C>T	uc002iop.1	+	1	763	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	ABI3_uc002ioq.1_Missense_Mutation_p.R89C	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	89					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGTGGAAGCCCGTGTAAGCAC	0.642000										HNSCC(55;0.14)				7			4		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105819932	105819932	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:105819932G>A	uc001kxr.3	-	13	1255	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	COL17A1_uc010qqv.1_Silent_p.I346I	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	362	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTGGTCATGATGAGCAGCT	0.522000														39			21		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231379810	231379810	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:231379810G>A	uc002vqt.3	+	25	2236	c.2095_splice	c.e25-1	p.E699_splice	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	699			E -> G (in dbSNP:rs34700604).		DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AACTTGTCAGGAGGAGCATAA	0.388000														28			17		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844264	131844264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:131844264G>A	uc003vra.4	-	24	4857	c.4628C>T	c.(4627-4629)tCc>tTc	p.S1543F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1543						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGCCGGTGGGAGCAAGGCAC	0.557000														264			76		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515435	56515435	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:56515435C>T	uc002qmj.3	+	1	416	c.416C>T	c.(415-417)tCg>tTg	p.S139L	NLRP5_uc002qmi.3_Missense_Mutation_p.S139L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	139	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGAACCCTCTCGGAGAAGGCA	0.512000														20			16		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338846	151338846	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:151338846G>A	uc010pcy.2	-	6	1004	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	SELENBP1_uc001exx.3_Missense_Mutation_p.P250S|SELENBP1_uc010pcz.2_Missense_Mutation_p.P188S|SELENBP1_uc001eya.3_Missense_Mutation_p.P186S	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	250					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTCCAAGGGAATAAGCCCA	0.572000														134			52		0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897454	11897454	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:11897454C>T	uc001ate.4	+	19	2306	c.2193C>T	c.(2191-2193)acC>acT	p.T731T	CLCN6_uc010oat.2_Silent_p.T447T|CLCN6_uc010oau.2_Silent_p.T709T|CLCN6_uc010oba.1_5'Flank|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oaz.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	731					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACTGGACCATGGAGGAGC	0.562000														62			31		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90046367	90046367	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:90046367G>A	uc003kju.3	+	53	11071	c.10975_splice	c.e53-1	p.N3659_splice	GPR98_uc003kjt.3_Splice_Site_p.N1365_splice|GPR98_uc003kjv.3_Splice_Site_p.N1259_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3659					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)		TATTTTTTCAGAATTCATTAT	0.363000														37			24		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080218	23080218	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:23080218G>A	uc002dll.3	-	15	3208	c.3208C>T	c.(3208-3210)Ccc>Tcc	p.P1070S	USP31_uc002dlk.3_Missense_Mutation_p.P342S|USP31_uc010vca.2_Missense_Mutation_p.P373S|USP31_uc010bxm.3_Missense_Mutation_p.P358S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1070	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAGCGGGAGGGCTTTAGAGAG	0.552000														27			18		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602911	138602911	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:138602911G>A	uc011kql.2	-	1	1510	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	KIAA1549_uc011kqj.2_Silent_p.S487S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	487						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGATAGGTCTGGAGGGGAAAA	0.463000			O	BRAF	pilocytic astrocytoma									24			11		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50056163	50056163	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:50056163C>T	uc003jon.4	+	5	494	c.312C>T	c.(310-312)tcC>tcT	p.S104S	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Silent_p.S104S|PARP8_uc003jop.3_Silent_p.S104S	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	104						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTTGCTTATCCATAAAATCCA	0.234000														16			8		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452019	138452019	+	Silent	SNP	C	T	T	rs141359488		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:138452019C>T	uc003ihe.4	-	0	1611	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	PCDH18_uc003ihf.4_Silent_p.Q401Q|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.Q188Q|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	408	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATATGTCTTCTGAAGTTTAA	0.378000														46			16		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043085	102043085	+	Missense_Mutation	SNP	G	A	A	rs147400257		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:102043085G>A	uc001tii.3	+	12	1309	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	MYBPC1_uc001tif.2_Missense_Mutation_p.R403Q|MYBPC1_uc001tig.3_Missense_Mutation_p.R415Q|MYBPC1_uc010svr.2_Missense_Mutation_p.R390Q|MYBPC1_uc010svs.2_Missense_Mutation_p.R390Q|MYBPC1_uc001tij.3_Missense_Mutation_p.R390Q|MYBPC1_uc010svt.2_Missense_Mutation_p.R378Q|MYBPC1_uc010svu.2_Missense_Mutation_p.R371Q|MYBPC1_uc001tik.3_Missense_Mutation_p.R364Q|MYBPC1_uc001tih.3_Missense_Mutation_p.R415Q|MYBPC1_uc010svq.2_Missense_Mutation_p.R377Q	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	390	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCAAGATACCGAATTAGAGTT	0.348000														16			17		0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167721306	167721306	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:167721306T>G	uc003qvq.3	+	6	1191	c.1016T>G	c.(1015-1017)cTg>cGg	p.L339R	UNC93A_uc003qvr.3_Missense_Mutation_p.L297R	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	339						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCCCTACTGCTGTGGAGACCT	0.617000														44			33		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248980	20248980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:20248980C>T	uc010tku.2	+	0	499	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCGACTTCCTTTCTGTGG	0.488000														192			54		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275983	113275983	+	Silent	SNP	G	A	A	rs61754530		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:113275983G>A	uc003ynu.3	-	60	9906	c.9747C>T	c.(9745-9747)ttC>ttT	p.F3249F	CSMD3_uc003yns.3_Silent_p.F2451F|CSMD3_uc003ynt.3_Silent_p.F3209F|CSMD3_uc011lhx.2_Silent_p.F3080F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3249	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCCCCAGTCGAAATTTGTTC	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				19			9		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944217	50944217	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:50944217G>T	uc009xog.3	-	20	2876	c.2842C>A	c.(2842-2844)Cca>Aca	p.P948T	OGDHL_uc001jie.3_Missense_Mutation_p.P921T|OGDHL_uc010qgt.2_Missense_Mutation_p.P864T|OGDHL_uc010qgu.2_Missense_Mutation_p.P712T	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	921					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAGGGGAATGGAGAGATCTGG	0.597000														8			10		4.68919e-08	4.73212e-08	1	1	0
SI	6476	broad.mit.edu	37	3	164700823	164700823	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:164700823G>A	uc003fei.3	-	45	5277	c.5214C>T	c.(5212-5214)gaC>gaT	p.D1738D		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1738	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATAAATATAGGTCTCTTTCAT	0.318000										HNSCC(35;0.089)				12			15		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225563	21225563	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:21225563G>A	uc002red.3	-	28	12859	c.12731C>T	c.(12730-12732)tCc>tTc	p.S4244F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4244					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGAAATAGGAAAACAGTAT	0.378000														39			24		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031559	79031559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:79031559G>A	uc003kgc.3	+	1	7043	c.6971G>A	c.(6970-6972)gGt>gAt	p.G2324D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2324						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCACTAATCGGTGAGAAATTG	0.383000														21			17		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45369757	45369757	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:45369757C>T	uc002ilj.3	+	9	1533	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	505	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.R505H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGAGGACTATCGCCCTTCCCA	0.627000														31			24		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137651	40137651	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:40137651C>T	uc021qgf.1	-	0	192	c.192G>A	c.(190-192)cgG>cgA	p.R64R	LRRC4C_uc001mxc.1_Silent_p.R60R|LRRC4C_uc001mxd.1_Silent_p.R60R|LRRC4C_uc001mxa.1_Silent_p.R64R|LRRC4C_uc001mxb.1_Silent_p.R60R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	64	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCAGGTTTTTCCGAACACAAA	0.532000														3			23		0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105474321	105474321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:105474321G>A	uc003pqv.1	+	2	550	c.347G>A	c.(346-348)gGg>gAg	p.G116E	LIN28B_uc010kda.1_Missense_Mutation_p.G76E	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	116					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGACCCAAAGGGAAGACACTA	0.373000														59			38		0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457336	107457336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:107457336G>A	uc011lvs.2	+	0	634	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TATTACCTGTGAAATTTTGGC	0.383000														7			66		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229794915	229794915	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:229794915C>T	uc001hts.1	+	9	4582	c.4446C>T	c.(4444-4446)atC>atT	p.I1482I	URB2_uc009xfd.1_Silent_p.I1482I	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1482						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCTCTGCATCGAGCCTGACG	0.507000														82			120		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106214249	106214249	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:106214249G>A	uc001kyh.3	+	17	2714	c.2580G>A	c.(2578-2580)ggG>ggA	p.G860G		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	860										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GTTTTACTGGGGGCGGATTTC	0.458000														38			35		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854241	12854241	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:12854241C>T	uc001auj.2	+	2	568	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	155										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACATCTGCCTCAAGGAAATAC	0.498000														151			19		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1916926	1916926	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:1916926G>A	uc001aim.1	-	5	555	c.399C>T	c.(397-399)gcC>gcT	p.A133A	KIAA1751_uc009vkz.1_Silent_p.A133A|KIAA1751_uc001ain.1_Silent_p.A133A	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	133										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGCCCACAGCGGCCCTGCAGT	0.662000														39			40		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634780	6634780	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:6634780G>A	uc001ant.3	+	2	684	c.588G>A	c.(586-588)gtG>gtA	p.V196V	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.V118V	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	196					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGTACCAGGTGGAGACCATGG	0.587000														17			13		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058242	152058242	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152058242C>T	uc001ezo.1	-	2	1981	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	639							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTTTGGTCCCTGGGCCTTG	0.547000														62			75		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155150656	155150656	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155150656T>A	uc001fhs.1	+	5	1171	c.1088T>A	c.(1087-1089)gTg>gAg	p.V363E	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.V363E|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.V237E|TRIM46_uc001fhu.1_Missense_Mutation_p.V340E|TRIM46_uc009wpg.1_Missense_Mutation_p.V350E|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	363						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAGGTCTGGTGGGCTATGCC	0.602000														53			3		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559872	140559872	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140559872G>A	uc011dai.2	+	0	2502	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	753					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y752Y(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATCAGTACGAGGTGTGCCT	0.577000														45			26		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11407739	11407739	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:11407739C>T	uc003wty.3	+	5	1021	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	147	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AAGGCCGGCTCCTTTCTTATC	0.562000														20			17		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148166	34148166	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:34148166G>A	uc004ddg.3	-	0	2282	c.2230C>T	c.(2230-2232)Cta>Tta	p.L744L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	744										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCTTGCTTAGAATGAAATCC	0.423000														3			20		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734212	92734212	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:92734212C>T	uc003umf.3	-	2	1469	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	SAMD9_uc003umg.3_Missense_Mutation_p.G400E|SAMD9_uc022ahg.1_Missense_Mutation_p.G400E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	400						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCTTGATTTCCTGTCAATAA	0.328000														21			19		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564680	142564680	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:142564680C>T	uc011kst.2	+	10	2391	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	EPHB6_uc011ksu.2_Missense_Mutation_p.S535F|EPHB6_uc003wbs.3_Missense_Mutation_p.S243F|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_Missense_Mutation_p.S243F|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	535	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAATCCCACTCCTTCACCCTG	0.657000														84			60		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023476	67023476	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:67023476G>A	uc002jhu.3	-	13	2049	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	ABCA9_uc010dez.3_Missense_Mutation_p.P636S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	636	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTTACTTGAGGATCTCCTAAA	0.299000														7			7		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100691270	100691270	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:100691270G>A	uc003uxp.1	+	3	12462	c.12409G>A	c.(12409-12411)Gga>Aga	p.G4137R	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4137	EGF-like.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACAGGCTTTGGAGATGGGTG	0.517000														101			78		0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228476136	228476136	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:228476136G>A	uc002vph.3	-	2	662	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	143						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATCTAGAATGGCTCCAGAGC	0.478000														31			31		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375679	113375679	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:113375679G>A	uc003eam.3	-	6	5261	c.4850C>T	c.(4849-4851)tCa>tTa	p.S1617L	KIAA2018_uc003eal.3_Missense_Mutation_p.S1561L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1617					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATGTTCAGATGAAACCCCTGA	0.448000														27			25		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311113	117311113	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:117311113G>A	uc001egu.4	+	4	793	c.764G>A	c.(763-765)aGa>aAa	p.R255K		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	255					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGAGCCCACAGAGTAGCTACT	0.473000														19			6		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684371	100684371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:100684371C>T	uc003uxp.1	+	2	9727	c.9674C>T	c.(9673-9675)aCt>aTt	p.T3225I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3225	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCATTAACTAGTGTACCT	0.483000														247			232		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241537805	241537805	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:241537805C>T	uc002vzk.2	+	10	2176	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Silent_p.F126F|CAPN10_uc002vzl.2_Silent_p.F505F|CAPN10_uc002vzn.2_Silent_p.F532F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	660					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGGCCAGTTCCTCCAAGAGG	0.622000														19			15		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94690554	94690554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:94690554G>A	uc011cdt.2	+	14	2812	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	GRID2_uc011cdu.2_Missense_Mutation_p.E757K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	852					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	p.L851L(1)		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)	AGCCATGCTGGAGACGTGGTG	0.483000														26			16		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756558	248756558	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:248756558G>A	uc010pzn.2	-	0	512	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATCTCATGGGATCTGCAGAA	0.507000														43			45		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575874	52575874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:52575874G>A	uc001jjj.3	-	8	1221	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	A1CF_uc010qho.2_Missense_Mutation_p.P353S|A1CF_uc010qhn.2_Missense_Mutation_p.P353S|A1CF_uc009xov.3_Missense_Mutation_p.P345S|A1CF_uc001jji.3_Missense_Mutation_p.P345S|A1CF_uc001jjh.3_Missense_Mutation_p.P353S	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	345					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TAGAAGACAGGAGCTCCAAGG	0.532000														22			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495906	179495906	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179495906C>T	uc021vsy.1	-	185	36390	c.36165G>A	c.(36163-36165)aaG>aaA	p.K12055K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5750K|TTN_uc021vta.1_Silent_p.K5683K|TTN_uc021vtb.1_Silent_p.K5558K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12982	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N12055D(1)		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)			GCTTTATTTCCTTCCCATCCT	0.373000														18			11		0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21516879	21516879	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:21516879C>T	uc003sva.3	+	3	2042	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	SP4_uc003svb.3_Nonsense_Mutation_p.R308*	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	621					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAAGAGGCTTCGAAGAGTTGC	0.458000														19			21		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	635807	635807	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:635807C>T	uc003siu.2	-	6	817	c.684G>A	c.(682-684)cgG>cgA	p.R228R	PRKAR1B_uc021zyi.1_Silent_p.R228R|PRKAR1B_uc003siv.3_Silent_p.R228R|PRKAR1B_uc021zyj.1_Silent_p.R228R|PRKAR1B_uc021zyk.1_Silent_p.R228R|PRKAR1B_uc003siw.2_Silent_p.R228R|PRKAR1B_uc003six.1_Non-coding_Transcript	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	228					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGTAGCTGTCCCGGTCGATCC	0.642000														65			36		0	0	1	0	0
BC073927	0	broad.mit.edu	37	11	71513960	71513960	+	RNA	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:71513960C>T	uc001oqx.1	-	2		c.640G>A								Homo sapiens cDNA clone IMAGE:5297769.																		CCACCACCTTCATGGGCAGGT	0.577000														27			3		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182413311	182413311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:182413311G>A	uc002unx.3	-	8	1273	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.S365L|CERKL_uc010zfm.2_Missense_Mutation_p.S347L|CERKL_uc002unz.3_Missense_Mutation_p.S113L|CERKL_uc002uoa.3_Missense_Mutation_p.S296L|CERKL_uc002uob.3_Missense_Mutation_p.S113L|CERKL_uc002uoc.3_Missense_Mutation_p.S252L|CERKL_uc021vth.1_Missense_Mutation_p.S160L|CERKL_uc021vti.1_Missense_Mutation_p.S113L|CERKL_uc021vtj.1_Missense_Mutation_p.S68L|CERKL_uc021vtk.1_Missense_Mutation_p.S113L|CERKL_uc021vtl.1_Missense_Mutation_p.S68L|CERKL_uc021vtm.1_Missense_Mutation_p.S160L|CERKL_uc002uod.2_Missense_Mutation_p.S160L|CERKL_uc002uoe.3_Missense_Mutation_p.S365L|CERKL_uc002unw.3_5'Flank	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	391					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGTAAAAATGATATTTCACA	0.303000														11			6		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055344	72055344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:72055344G>A	uc001xms.3	+	1	1116	c.755G>A	c.(754-756)gGc>gAc	p.G252D	SIPA1L1_uc001xmt.3_Missense_Mutation_p.G252D|SIPA1L1_uc001xmu.3_Missense_Mutation_p.G252D|SIPA1L1_uc001xmv.3_Missense_Mutation_p.G252D	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	252					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTGGTGGCAAGGGTTCT	0.443000														30			25		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797334	101797334	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:101797334G>A	uc004azb.1	+	17	2324	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	706	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G706G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACCCCCGGGGAAAAAGGGAC	0.617000														3			52		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113220765	113220765	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:113220765C>T	uc010mtz.3	-	19	3899	c.3562G>A	c.(3562-3564)Gaa>Aaa	p.E1188K	SVEP1_uc010mua.1_Missense_Mutation_p.E1188K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1188					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.H1187N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCTGATTTCATGCCTCTTT	0.398000														0			10		0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269321	37269321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:37269321G>A	uc001uvt.4	+	1	552	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	SERTM1_uc021rii.1_Missense_Mutation_p.G36S	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	36						integral to membrane											CCCATCCTCAGGCCACCTGTC	0.468000														61			49		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088518	94088518	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:94088518G>A	uc001ybv.1	+	27	4557	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K	UNC79_uc001ybs.1_Missense_Mutation_p.E1470K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1647						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGAGAGTGACGAAGAAGAGGA	0.552000														30			23		0	0	1	0	0
AK094599	0	broad.mit.edu	37	2	133066856	133066856	+	RNA	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:133066856C>T	uc002ttk.1	+	1		c.55C>T								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		TTTCCAGAATCCTGCCCTTTC	0.363000														58			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750787	140750787	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140750787G>T	uc003ljw.2	+	0	826	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Nonsense_Mutation_p.E276*|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	276	Cadherin 3.				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)			CATCAATGCCGAAATCATCTA	0.473000														49			37		1.26612e-14	1.27901e-14	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308966	248308966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:248308966G>A	uc010pze.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E173K(2)|p.R172W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGGTCTCGGGAAATAGCCCA	0.428000														199			89		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175780	79175780	+	Missense_Mutation	SNP	A	G	G	rs144756457		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:79175780A>G	uc001xun.3	+	3	814	c.323A>G	c.(322-324)aAt>aGt	p.N108S	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.N242S	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACAGAGCCCAATGGCCTGATC	0.512000														39			29		0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186257163	186257163	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:186257163G>A	uc003fqe.3	-	1	297	c.245C>T	c.(244-246)tCc>tTc	p.S82F		NM_017541	NP_060011	P22914	CRBS_HUMAN	Homo sapiens crystallin, gamma S (CRYGS), mRNA.	82	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		AGCTCTGCAGGAGCTGAGGCG	0.517000														18			9		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53073958	53073958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:53073958C>T	uc003xqz.2	-	8	1727	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	ST18_uc011ldq.1_Missense_Mutation_p.R171Q|ST18_uc011ldr.1_Missense_Mutation_p.R489Q|ST18_uc011lds.1_Missense_Mutation_p.R429Q|ST18_uc003xra.2_Missense_Mutation_p.R524Q|ST18_uc003xrb.2_Missense_Mutation_p.R524Q	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R524Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTGTTTTTCGTCCTTGCAC	0.438000														40			30		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86393000	86393000	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:86393000C>T	uc003ydk.2	+	6	945	c.765C>T	c.(763-765)atC>atT	p.I255I	CA2_uc022axe.1_Non-coding_Transcript	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	255					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACAGGCAAATCAAAGCTTCCT	0.448000														20			15		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31018774	31018774	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:31018774C>T	uc003tbx.3	+	12	1235	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	GHRHR_uc003tby.3_Missense_Mutation_p.P332L|GHRHR_uc003tbz.3_3'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	396					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GGCCATGACCCTGAGCTTCTG	0.602000														45			25		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17165542	17165542	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:17165542C>T	uc004cxv.1	+	17	2092	c.1921C>T	c.(1921-1923)Cat>Tat	p.H641Y	REPS2_uc004cxw.1_Missense_Mutation_p.H640Y|REPS2_uc011miw.1_Missense_Mutation_p.H439Y	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	641	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCAGGAGGTTCATCAAGAACG	0.408000														10			91		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447651	96447651	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:96447651G>A	uc001kjv.4	+	1	619	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CYP2C19_uc001kjw.4_Missense_Mutation_p.G98E|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	98					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCTGGAAGAGGAAGTTTTCCA	0.443000														54			39		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39306534	39306534	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:39306534G>A	uc002oji.3	-	8	930	c.845C>T	c.(844-846)tCc>tTc	p.S282F	LGALS4_uc002ojg.3_5'Flank|LGALS4_uc010xuj.2_5'Flank	NM_001398	NP_001389	P14866	HNRPL_HUMAN	Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA.	0					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ATGGTCGCGGGAATACAGCAG	0.612000														24			25		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83378555	83378555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:83378555G>A	uc010vns.2	+	6	1130	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	CDH13_uc002fgx.3_Missense_Mutation_p.R242Q|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Missense_Mutation_p.R203Q	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	242	Cadherin 2.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AATGACAACCGACCGATCTTT	0.502000														35			35		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51130860	51130860	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:51130860C>T	uc001rwv.3	+	34	4299	c.4143C>T	c.(4141-4143)acC>acT	p.T1381T	DIP2B_uc009zlt.3_Silent_p.T811T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1381						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ATCCTGAGACCAAAGGGCCGG	0.373000														43			23		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114947	40114947	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:40114947C>T	uc001rmc.3	+	12	2020	c.1853C>T	c.(1852-1854)tCa>tTa	p.S618L	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	618										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GATCTAATTTCAAAATGTACA	0.413000														14			18		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647489	38647489	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38647489C>T	uc021wvo.1	-	8	1343	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	SCN5A_uc021wvk.1_Missense_Mutation_p.E431K|SCN5A_uc021wvl.1_Missense_Mutation_p.E431K|SCN5A_uc021wvm.1_Missense_Mutation_p.E431K|SCN5A_uc021wvn.1_Missense_Mutation_p.E431K|SCN5A_uc021wvp.1_Missense_Mutation_p.E431K|SCN5A_uc021wvq.1_Missense_Mutation_p.E431K|SCN5A_uc021wvr.1_Missense_Mutation_p.E431K|SCN5A_uc021wvs.1_Missense_Mutation_p.E431K|SCN5A_uc021wvt.1_Missense_Mutation_p.E431K|SCN5A_uc021wvu.1_Missense_Mutation_p.E431K|SCN5A_uc021wvv.1_Missense_Mutation_p.E431K|SCN5A_uc021wvj.1_Missense_Mutation_p.E297K|SCN5A_uc021wvi.1_Missense_Mutation_p.E297K|SCN5A_uc021wvw.1_Missense_Mutation_p.E42K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	431					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	p.E431K(2)		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)	AAGCGCTTTTCCTTCTCCTCG	0.572000														36			27		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67365778	67365778	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:67365778C>T	uc002lkl.3	+	4	745	c.548C>T	c.(547-549)tCa>tTa	p.S183L		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	183	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CCTCTCAGCTCACTGAGGAGA	0.463000														14			18		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090631	111090631	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:111090631T>A	uc004epl.1	-	5	2330	c.1411A>T	c.(1411-1413)Atg>Ttg	p.M471L	TRPC5_uc004epm.1_Missense_Mutation_p.M471L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	471					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGTGCCACATTTCCCATTCC	0.438000														3			19		0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79914551	79914551	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:79914551G>A	uc010wvg.2	-	7	1235	c.963C>T	c.(961-963)ggC>ggT	p.G321G		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	321						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGACCTTGTAGCCAAAGAAGC	0.637000														11			7		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212587206	212587206	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:212587206G>A	uc002veg.1	-	6	893	c.795C>T	c.(793-795)acC>acT	p.T265T	ERBB4_uc002veh.1_Silent_p.T265T|ERBB4_uc010zji.1_Silent_p.T265T|ERBB4_uc010zjj.1_Silent_p.T265T|ERBB4_uc010fut.1_Silent_p.T265T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	265	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTAGACAAAGGTTTGGGGAC	0.383000										TSP Lung(8;0.080)				19			13		0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47794973	47794973	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:47794973G>A	uc002ipk.3	-	5	881	c.812C>T	c.(811-813)cCt>cTt	p.P271L	FAM117A_uc010wlz.2_5'UTR	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	271										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGACATGGAAGGAGAGCTGGC	0.632000														35			17		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032162	197032162	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:197032162C>T	uc001gtt.1	-	1	134	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	30	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCATTTTCCACATGAGGAA	0.313000														101			60		0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110849256	110849256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:110849256G>A	uc002tfk.3	-	1	971	c.197C>T	c.(196-198)tCg>tTg	p.S66L	MALL_uc010fju.3_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	66	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GATGAGAAACGAGGTGAGCGA	0.458000														37			13		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967944	49967944	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:49967944C>T	uc002pnt.3	+	11	1609	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	ALDH16A1_uc010yar.2_Missense_Mutation_p.S447F|ALDH16A1_uc010yas.2_Missense_Mutation_p.S333F|ALDH16A1_uc010yat.2_Missense_Mutation_p.S335F	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	498							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCCTGCCTCTCCAAGAACCTG	0.632000														126			94		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30889739	30889739	+	Silent	SNP	G	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:30889739G>T	uc011dmz.2	+	18	1944	c.1863G>T	c.(1861-1863)ctG>ctT	p.L621L	VARS2_uc003nsc.2_Silent_p.L591L|VARS2_uc011dmx.2_Silent_p.L591L|VARS2_uc011dmy.2_Silent_p.L451L|VARS2_uc011dna.2_Silent_p.L589L|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Intron|VARS2_uc011dnd.2_Missense_Mutation_p.V7F|VARS2_uc010jsg.2_Intron|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	591					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTTCTGCCCTGTTCCCCTTTT	0.552000														46			31		1.42033e-22	1.44214e-22	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93716288	93716288	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:93716288T>G	uc001khr.3	+	6	803	c.705T>G	c.(703-705)aaT>aaG	p.N235K	BTAF1_uc009xua.1_Non-coding_Transcript|BTAF1_uc001khs.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	235					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTTAGCAATGATAGCACTG	0.303000														11			6		0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114695241	114695241	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:114695241C>T	uc004bft.3	+	8	1439	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_003358	NP_003349	Q16739	CEGT_HUMAN	Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.	383					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ACAGATTACGCTGTGGGGGTA	0.378000														3			32		0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75279839	75279839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:75279839C>T	uc001owr.3	+	2	984	c.686C>T	c.(685-687)tCc>tTc	p.S229F	SERPINH1_uc009yuf.3_Missense_Mutation_p.S229F|SERPINH1_uc009yug.3_Missense_Mutation_p.S229F|SERPINH1_uc001ows.3_Missense_Mutation_p.S229F|SERPINH1_uc001owt.3_Missense_Mutation_p.S12F	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	229					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGACTCGGTCCTATACCGTG	0.557000														4			28		0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53427596	53427596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:53427596C>T	uc001sbh.4	+	8	1192	c.986C>T	c.(985-987)cCc>cTc	p.P329L	EIF4B_uc010snu.2_Missense_Mutation_p.P329L|EIF4B_uc010snv.2_Missense_Mutation_p.P290L	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	329	Arg-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTAGGTCCCCCCCAAAGACCC	0.428000														15			13		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77254172	77254172	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:77254172C>T	uc004ecx.4	+	4	1694	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	ATP7A_uc004ecw.2_Missense_Mutation_p.R512W	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	512	HMA 5.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.R512W(3)|p.R512R(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GAATTTAAGGCGGGAAGAAGG	0.393000														2			30		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532304	50532304	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:50532304C>T	uc021pqb.1	+	0	1714	c.1714C>T	c.(1714-1716)Ccc>Tcc	p.P572S	C10orf71_uc021pqa.1_Missense_Mutation_p.P571S|C10orf71_uc021pqc.1_Missense_Mutation_p.P572S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	572										endometrium(1)	1						ACACATCAATCCCCAGAAGGA	0.542000														22			12		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139346524	139346525	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:139346524_139346525AG>TA	uc003etj.3	-	0	82_83	c.42_43CT>TA	c.(40-45)tccttt>tcTAtt	p.F15I	NMNAT3_uc010hul.3_Missense_Mutation_p.F15I|NMNAT3_uc003etk.3_Intron|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	15					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						ATGGGGTTAAAGGAGCCACAGG	0.550000														10			9		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191366	152191366	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152191366G>A	uc001ezt.1	-	2	2815	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	913					keratinization		calcium ion binding|protein binding	p.S913Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCGACCGGAGCCAGACC	0.637000														146			55		0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842987	35842987	+	Missense_Mutation	SNP	C	T	T	rs143187042		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:35842987C>T	uc002nzc.2	+	0	543	c.533C>T	c.(532-534)tCt>tTt	p.S178F		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	178					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GACCCGGCCTCTGCCGGCCCG	0.677000														17			19		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864668	160864668	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:160864668C>T	uc003qti.3	+	8	1431	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	468						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ACAGAAATTTCGGAGTTTCGC	0.383000														7			9		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216436	208216436	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:208216436G>A	uc001hgz.3	-	20	4745	c.3987C>T	c.(3985-3987)atC>atT	p.I1329I		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1329					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTGGTCCTCGATGCCCGGGA	0.597000														40			23		0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161496333	161496333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:161496333C>T	uc001gaq.3	+	0	2298	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	629					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACTCAAGCCCGCCAGGGGGA	0.602000														12			8		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430368	149430369	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:149430368_149430369CC>TT	uc003wfz.3	+	17	2721_2722	c.2322_2323CC>TT	c.(2320-2325)ccccct>ccTTct	p.P775S	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.P383S	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	776	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGAGCTGCCCCCTCCGGAAGC	0.678000														85			86		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558190	149558190	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:149558190C>T	uc010lpn.3	+	6	2133	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCCGCTACTTCAAGCAGATGG	0.587000														15			25		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180165422	180165422	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:180165422C>T	uc001gnz.3	+	11	1569	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	QSOX1_uc001gny.3_Silent_p.F498F|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	498	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCCCCAGTTCCCCAAGGTGC	0.597000														57			74		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645290	38645290	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38645290G>A	uc021wvo.1	-	10	1855	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	SCN5A_uc021wvk.1_Silent_p.V601V|SCN5A_uc021wvl.1_Silent_p.V601V|SCN5A_uc021wvm.1_Silent_p.V601V|SCN5A_uc021wvn.1_Silent_p.V601V|SCN5A_uc021wvp.1_Silent_p.V601V|SCN5A_uc021wvq.1_Silent_p.V601V|SCN5A_uc021wvr.1_Silent_p.V601V|SCN5A_uc021wvs.1_Silent_p.V601V|SCN5A_uc021wvt.1_Silent_p.V601V|SCN5A_uc021wvu.1_Silent_p.V601V|SCN5A_uc021wvv.1_Silent_p.V601V|SCN5A_uc021wvj.1_Silent_p.V467V|SCN5A_uc021wvi.1_Silent_p.V467V|SCN5A_uc021wvw.1_Silent_p.V212V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	601					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)	CCAGTAATGAGACCACCCCAT	0.662000														48			39		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010110	35010110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:35010110C>T	uc003jjf.3	-	11	1576	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	AGXT2_uc003jje.1_Missense_Mutation_p.D98N|AGXT2_uc011com.2_Missense_Mutation_p.D370N	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	445					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCTACCTTATCCTGCACCATT	0.458000														27			22		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970443	108970443	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:108970443G>A	uc003yms.3	-	4	1139	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	RSPO2_uc003ymq.3_Missense_Mutation_p.R94C|RSPO2_uc003ymr.3_Missense_Mutation_p.R97C	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	161	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCACATGTGCGATTATTTCTG	0.383000														41			24		0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63826365	63826365	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:63826365C>T	uc010ypv.2	+	4	668	c.491C>T	c.(490-492)tCc>tTc	p.S164F	MDH1_uc002scj.2_Missense_Mutation_p.S146F|MDH1_uc010ypw.2_Missense_Mutation_p.S57F	NM_001199111	NP_001186040	P40925	MDHC_HUMAN	Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), transcript variant 1, mRNA.	146					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TCAGCTCCATCCATCCCCAAG	0.423000														22			23		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56566761	56566761	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:56566761G>A	uc021zay.1	-	4	492	c.366C>T	c.(364-366)ccC>ccT	p.P122P	DST_uc011dxl.1_Silent_p.P111P|DST_uc021zaz.1_Silent_p.P82P	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	82	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTTTCTCTGGGCTAAGAAC	0.328000														7			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050196	9050196	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9050196G>A	uc002mkp.3	-	4	31639	c.31435C>T	c.(31435-31437)Ctg>Ttg	p.L10479L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10481	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						GTGGTCTTCAGAGCTGTGGTG	0.488000														126			99		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155299	139155299	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:139155299G>A	uc003yuy.3	-	15	3765	c.3594C>T	c.(3592-3594)atC>atT	p.I1198I	FAM135B_uc003yux.3_Silent_p.I1099I|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.I760I|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1198										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTGTTGAATGATTTCATCCA	0.448000										HNSCC(54;0.14)				23			15		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60373499	60373499	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:60373499C>T	uc001czq.3	-	5	967	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	321					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CAGAGCCCATCGCAGAGTTGT	0.507000														29			24		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685768	51685768	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:51685768C>T	uc001ryg.3	-	9	1174	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	BIN2_uc009zlz.3_Silent_p.L342L|BIN2_uc001ryh.3_Silent_p.L250L|BIN2_uc010sng.2_Silent_p.L348L	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	374						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTGAAGGGCTCAGGGCTCCGC	0.597000														25			19		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61935342	61935342	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:61935342G>A	uc002eog.2	-	2	1243	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	96	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGATATACTTGATTTTTTTGC	0.378000														19			8		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55857580	55857580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:55857580G>A	uc002eim.3	-	3	526	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	CES1_uc002eil.3_Missense_Mutation_p.H141Y|CES1_uc002ein.3_Missense_Mutation_p.H140Y	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	140					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCCCCTCCGTGGATCCACACC	0.562000														37			6		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24268220	24268220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:24268220G>A	uc002dmf.3	+	0	1347	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	49					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E49K(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AAGTGATAATGAAACCAGCAG	0.443000														21			21		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147016597	147016597	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:147016597G>A	uc010jgo.1	-	9	1693	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	JAKMIP2_uc003loq.1_Silent_p.L515L|JAKMIP2_uc011dbx.1_Silent_p.L473L|JAKMIP2_uc003lor.1_Silent_p.L515L|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	515						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGCTTGGAGCTGTTCTT	0.438000														48			37		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186968051	186968051	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:186968051G>A	uc003frh.2	-	7	1468	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	MASP1_uc003fri.3_Missense_Mutation_p.P360S|MASP1_uc003frj.3_Missense_Mutation_p.P329S|MASP1_uc003frk.2_Missense_Mutation_p.P360S|MASP1_uc011bse.2_Missense_Mutation_p.P334S	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	360	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTACAGGTGGGAATCTTGTTA	0.488000														50			47		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184629671	184629671	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:184629671C>T	uc003ivx.3	+	28	3503	c.3301C>T	c.(3301-3303)Cct>Tct	p.P1101S	TRAPPC11_uc003ivw.3_Intron|TRAPPC11_uc010isc.3_Intron|TRAPPC11_uc003ivy.3_Missense_Mutation_p.P707S	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	1101																	GCTTAGATTTCCTAACTTCAC	0.393000														15			16		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59789900	59789900	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:59789900T>C	uc001xdz.1	+	5	856	c.731T>C	c.(730-732)aTg>aCg	p.M244T	DAAM1_uc001xea.1_Missense_Mutation_p.M244T|DAAM1_uc001xeb.1_Missense_Mutation_p.M244T	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	244	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGCAGGCCATGCTGCACTAC	0.552000														5			10		0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44531169	44531169	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:44531169G>A	uc002xqm.2	-	9	1612	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	PLTP_uc002xql.2_Silent_p.P251P|PLTP_uc010zxj.2_Silent_p.P244P|PLTP_uc002xqq.2_Silent_p.P308P|PLTP_uc002xqn.2_Silent_p.P339P|PLTP_uc002xqo.2_Silent_p.P287P	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	339					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TGGTGCCAGAGGGCTTGATGG	0.637000														38			17		0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158877	77158877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:77158877G>A	uc001jxg.3	-	1	1907	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CTTGTCGCACGGCCCGTTGGC	0.652000														25			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085057	9085057	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9085057G>A	uc002mkp.3	-	0	6962	c.6758C>T	c.(6757-6759)tCc>tTc	p.S2253F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2253	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2253F(3)		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						AGGGGAGGGGGAAAAGGAGAC	0.458000														11			9		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634389	180634389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:180634389G>A	uc002unn.4	-	2	698	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	32						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AAGGAGAAAAGAATTTTCTTT	0.473000														31			15		0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80943070	80943070	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:80943070C>T	uc004ala.3	+	7	1041	c.973C>T	c.(973-975)Ctt>Ttt	p.L325F	PSAT1_uc004alb.3_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	325					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGATAAAGCTCTTGAACTCAA	0.383000														4			22		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968803	119968803	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:119968803C>T	uc001txe.3	+	12	1951	c.1486C>T	c.(1486-1488)Ctg>Ttg	p.L496L	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	496										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCATGTCCTCCTGAAGGTGCT	0.527000														20			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864596	13864596	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13864596G>A	uc003jfd.2	-	27	4548	c.4506C>T	c.(4504-4506)ctC>ctT	p.L1502L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1502	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCCCGGTGAGGGTGGTTA	0.458000									Kartagener syndrome					19			12		0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156169797	156169797	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:156169797C>T	uc009wrr.3	+	1	481	c.159C>T	c.(157-159)ctC>ctT	p.L53L	SLC25A44_uc001fnp.3_Silent_p.L53L|SLC25A44_uc010phc.2_Silent_p.L53L|SLC25A44_uc010phd.2_Intron|SLC25A44_uc010phe.2_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	Homo sapiens solute carrier family 25, member 44 (SLC25A44), mRNA.	53					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GGAAGAGCCTCTACCATGGGA	0.527000														15			27		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493150	173493150	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:173493150G>A	uc001giz.2	-	20	3021	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	SLC9C2_uc009wwe.2_Silent_p.I424I	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	866					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCAGCCAAATGATGTTGTGAA	0.348000														52			18		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175110	133175110	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:133175110G>A	uc002ttl.3	+	0	964	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	165						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCCGCCCTGGTGGCACTGC	0.627000														20			20		0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440821	168440821	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:168440821G>A	uc003qwk.1	+	5	833	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	KIF25_uc003qwl.1_Missense_Mutation_p.V191M	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	191	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCCCACCCTGGTGCACGCGGA	0.577000														40			12		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52544958	52544958	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:52544958G>A	uc002lfr.3	+	1	385	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	48					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AGACTTTCGGGAAAAACGTGT	0.378000														45			20		0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74452089	74452089	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:74452089C>T	uc002fct.3	-	2	524	c.324G>A	c.(322-324)tgG>tgA	p.W108*	CLEC18B_uc002fcu.3_Nonsense_Mutation_p.W108*|CLEC18B_uc010vmu.1_Intron|CLEC18B_uc010vmw.1_Nonsense_Mutation_p.W108*	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	108	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGCATGTTCCAGCCCACTT	0.662000														37			14		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56330936	56330936	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:56330936G>A	uc003pcy.4	-	79	14866	c.14758C>T	c.(14758-14760)Cgt>Tgt	p.R4920C	DST_uc003pcv.4_5'Flank|DST_uc003pcw.4_Missense_Mutation_p.R3C|DST_uc003pcx.4_Missense_Mutation_p.R3C	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7332					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTCCAACACGAACCATCACA	0.433000														13			10		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7731380	7731380	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:7731380C>T	uc003gkb.4	+	22	3049	c.3049C>T	c.(3049-3051)Ctg>Ttg	p.L1017L	SORCS2_uc011bwi.2_Silent_p.L845L	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	1017						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTGGCCGATCTGTACGTGCT	0.632000														4			5		0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:108672495C>T	uc003dxj.2	-	0	183	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_uc003dxk.2_Missense_Mutation_p.E39K	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000														43			28		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730850	92730850	+	Missense_Mutation	SNP	C	T	T	rs115350620	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:92730850C>T	uc003umf.3	-	2	4831	c.4561G>A	c.(4561-4563)Gaa>Aaa	p.E1521K	SAMD9_uc003umg.3_Missense_Mutation_p.E1521K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1521K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1521						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGACTTTTTCCTCCTTCCAC	0.363000														32			26		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468850	160468850	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:160468850C>T	uc003qta.3	+	16	2404	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	752					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCTACAACTTCCGGTGGTACA	0.552000														40			42		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22994651	22994651	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:22994651C>T	uc001wbw.2	+	2	381	c.372C>T	c.(370-372)taC>taT	p.Y124Y	TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Intron|TCRA_uc010ajz.1_Intron|TCRA_uc001wfs.2_Intron|TCRA_uc001wft.2_Intron|TCRA_uc001wfu.3_Intron|TCRA_uc001wfv.2_Intron|TCRA_uc001wfw.1_5'UTR|TCRA_uc021rqm.1_5'Flank|TCRA_uc001wfx.3_5'Flank|TCRA_uc001wfy.2_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																		GGAGGCTATACTTTGGAAGAG	0.488000														31			19		0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76191779	76191779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:76191779C>T	uc002bbg.2	+	12	1494	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	UBE2Q2_uc002bbh.2_Missense_Mutation_p.P335S|UBE2Q2_uc010umn.1_Missense_Mutation_p.P354S|UBE2Q2_uc002bbi.2_Missense_Mutation_p.P180L	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA.	370					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						CTGGTACACCCCTCCAAAGGA	0.328000														11			11		0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39077585	39077585	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:39077585G>A	uc003gtr.2	+	2	805	c.522_splice	c.e2-1	p.R174_splice	KLHL5_uc003gtp.3_Splice_Site_p.R128_splice|KLHL5_uc003gtq.3_Splice_Site|KLHL5_uc003gts.3_Splice_Site_p.R174_splice|KLHL5_uc003gtt.3_Intron	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	174						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTCTTTTCAGGACTTCCAATA	0.318000														28			19		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096879	53096879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:53096879C>T	uc001saw.3	-	0	369	c.340G>A	c.(340-342)Ggt>Agt	p.G114S	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	114	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AATCCAGCACCCCCAAAACCA	0.587000														20			15		0	0	1	0	0
PHF17	79960	broad.mit.edu	37	4	129764135	129764135	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:129764135C>T	uc011cgy.2	+	2	394	c.80C>T	c.(79-81)tCc>tTc	p.S27F	PHF17_uc003igj.3_Missense_Mutation_p.S27F|PHF17_uc003igk.3_Missense_Mutation_p.S27F|PHF17_uc003igl.3_Missense_Mutation_p.S27F|PHF17_uc003igm.3_Missense_Mutation_p.S27F	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	27					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCCCAGAATTCCCGATCCCAG	0.448000														21			10		0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517962	84517962	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:84517962G>A	uc010ffz.1	+	0	157	c.20G>A	c.(19-21)gGa>gAa	p.G7E						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		TCCAGTCAAGGAAACTTTGAG	0.577000														12			11		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394581	164394581	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:164394581C>T	uc003iqp.4	-	0	467	c.306G>A	c.(304-306)agG>agA	p.R102R		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	102						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTGAAGTTTCCTCAGGTTCA	0.547000														15			15		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:168105217G>A	uc002udx.3	+	8	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAATAAGAACGATTTTTCCCC	0.408000														36			31		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850360	40850360	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:40850360G>A	uc002law.3	-	3	1593	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Silent_p.I390I	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	408						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.E407Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTAGTCACAGATCTCTTTCC	0.498000														98			68		0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97490892	97490892	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:97490892C>T	uc002swy.3	+	1	1347	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	CNNM3_uc002swz.3_Intron	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	Homo sapiens cyclin M3 (CNNM3), transcript variant 1, mRNA.	441	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						AGGACGTGATCGAGGAGATCA	0.602000														16			8		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72301382	72301382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:72301382G>A	uc002jkf.3	+	8	1122	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	DNAI2_uc002jkg.3_Missense_Mutation_p.E338K|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_3'UTR|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	338					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.E338K(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGTGGGGACCGAGCAGGGCAT	0.582000									Kartagener syndrome					23			20		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413929	22413929	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:22413929C>T	uc001yuf.3	+	0	468	c.228C>T	c.(226-228)tcC>tcT	p.S76S	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TTGTCCACTCCATTATCCAGG	0.507000														53			33		0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703946	156703946	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:156703946G>A	uc001fpu.3	+	5	1416	c.782G>A	c.(781-783)gGg>gAg	p.G261E	RRNAD1_uc001fpv.3_Intron	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	261						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CACGCCTGTGGGGATCTGAGT	0.627000														41			21		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231194	42231194	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:42231194C>T	uc002orl.3	+	8	2188	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	CEACAM5_uc002orj.1_Silent_p.V688V	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	689				V -> A (in Ref. 3; AAA62835).		anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGGCCACTGTCGGCATCATGA	0.473000														174			126		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017438	9017438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9017438C>T	uc002mkp.3	-	25	38090	c.37886G>A	c.(37885-37887)aGg>aAg	p.R12629K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12631	SEA 4.			L -> V (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						TAGCTGCTCCCTGTCCACTCC	0.587000														60			40		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	A	A	rs144536521		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:141673385G>A	uc003vwx.1	-	0	189	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAAGAAAACGAAGGCATTGG	0.483000														31			34		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670039	44670039	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:44670039G>A	uc010zxl.1	+	7	1071	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTTGGGAAGGAAATGAGACG	0.552000														51			15		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964976	48964976	+	Silent	SNP	G	A	A	rs79457039	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:48964976G>A	uc010kyv.1	+	0	820	c.708G>A	c.(706-708)agG>agA	p.R236R						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TGAATAAAAGGATGTATGATG	0.408000														21			11		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229250	39229250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:39229250G>A	uc003cjk.2	-	1	1916	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	XIRP1_uc003cji.3_Missense_Mutation_p.H563Y|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.H563Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	563	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCCGTTGGTGGATCATCTCC	0.622000														24			19		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79572091	79572091	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:79572091G>A	uc001jzk.3	-	20	4140	c.4070C>T	c.(4069-4071)tCa>tTa	p.S1357L	DLG5_uc001jzi.3_Missense_Mutation_p.S112L|DLG5_uc001jzj.3_Missense_Mutation_p.S772L|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1357	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGCGGCTCTGAGCCCTTCTG	0.577000														21			16		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54802537	54802537	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54802537T>G	uc002qfd.3	-	4	996	c.904A>C	c.(904-906)Aac>Cac	p.N302H	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.N238H	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	301	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGAGAGGTTGTATGCACCG	0.682000														61			13		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381439	101381439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:101381439G>A	uc010svm.1	+	7	1297	c.725G>A	c.(724-726)aGg>aAg	p.R242K	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R207K|ANO4_uc001thx.2_Missense_Mutation_p.R242K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	242						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGCCAGCAAAGGATCCATCAG	0.527000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			41		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222222	53222222	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:53222222G>A	uc004drz.3	-	25	5143	c.4610C>T	c.(4609-4611)tCg>tTg	p.S1537L	KDM5C_uc022bxe.1_Intron|KDM5C_uc004dsa.3_Missense_Mutation_p.S1536L|AY927613_uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1537					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAAAGGGGCCGAGGGGCCTGA	0.662000			"""N, F, S"""		clear cell renal carcinoma									0			11		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053549	106053549	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:106053549G>A	uc001yrt.3	-	3	797	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		TGCAGCCAGCGAACCAGCACA	0.677000														21			11		0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960919	7960919	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:7960919G>A	uc010rbi.2	-	0	149	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGGTTTAAGGAGATGATGAC	0.473000														6			45		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104213	53104213	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:53104213C>T	uc003tpz.3	+	0	865	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	283								p.F283L(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGTCTCCTTCGCCCTCGAGG	0.617000														44			44		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20710962	20710962	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:20710962C>T	uc010tld.2	+	0	12	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TGTCTTTCTTCTTTGTAGACT	0.423000														18			15		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334225	108334225	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:108334225T>C	uc003ymn.3	-	3	1175	c.707A>G	c.(706-708)cAa>cGa	p.Q236R	ANGPT1_uc011lhv.2_Missense_Mutation_p.Q36R|ANGPT1_uc003ymo.3_Missense_Mutation_p.Q236R|ANGPT1_uc003ymp.4_Missense_Mutation_p.Q36R	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	236					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCTGTTTAATTGCTTTTCCAG	0.433000														26			13		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29587415	29587415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:29587415C>T	uc002hgg.3	+	33	4842	c.4459C>T	c.(4459-4461)Cct>Tct	p.P1487S	NF1_uc002hgh.3_Missense_Mutation_p.P1466S|NF1_uc002hgi.1_Missense_Mutation_p.P499S	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1487					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCTGATTGTCCTACAAGTGA	0.353000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				38			30		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74308114	74308114	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:74308114C>T	uc003hgz.1	+	4	631	c.584C>T	c.(583-585)gCt>gTt	p.A195V	AFP_uc011cbg.1_5'UTR	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	195	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGCAAAGCTGAAAATGCA	0.373000									Alpha-Fetoprotein, Hereditary Persistence of					30			12		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681884	136681884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:136681884C>T	uc011edg.2	-	12	2093	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	MAP7_uc011edf.2_Missense_Mutation_p.R570Q|MAP7_uc010kgu.3_Missense_Mutation_p.R607Q|MAP7_uc011edh.2_Missense_Mutation_p.R570Q|MAP7_uc010kgv.3_Missense_Mutation_p.R607Q|MAP7_uc010kgs.3_Missense_Mutation_p.R439Q|MAP7_uc011edi.2_Missense_Mutation_p.R439Q|MAP7_uc010kgq.2_Missense_Mutation_p.R491Q|MAP7_uc003qgz.3_Missense_Mutation_p.R585Q|MAP7_uc003qha.2_Missense_Mutation_p.R548Q	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	585					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ATGCTTCTCTCGTTCCTGCCG	0.552000														197			166		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168123384	168123384	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:168123384C>T	uc010jjg.3	-	27	3436	c.3016G>A	c.(3016-3018)Gac>Aac	p.D1006N	SLIT3_uc003mab.3_Missense_Mutation_p.D999N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	999	EGF-like 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCACAGTCATCTGGGTTG	0.562000														28			27		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578642	58578642	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:58578642C>T	uc002qrg.3	+	3	865	c.862C>T	c.(862-864)Cat>Tat	p.H288Y	ZNF135_uc002qre.3_Missense_Mutation_p.H264Y|ZNF135_uc002qrf.3_Missense_Mutation_p.H222Y|ZNF135_uc010yhq.2_Missense_Mutation_p.H276Y|ZNF135_uc010yhr.2_Missense_Mutation_p.H85Y|ZNF135_uc002qrd.2_Missense_Mutation_p.H276Y|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	276					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGAGAATCCATACTGGGGA	0.517000														49			35		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299363	158299363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:158299363C>T	uc001frx.3	-	3	791	c.683G>A	c.(682-684)gGa>gAa	p.G228E	CD1B_uc001frw.3_Missense_Mutation_p.G228E	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	228	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGGGTAGAATCCTGAGACATG	0.587000														72			42		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104494	168104494	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:168104494G>A	uc002udx.3	+	8	6681	c.6592G>A	c.(6592-6594)Gat>Aat	p.D2198N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2023N|XIRP2_uc010fpq.3_Missense_Mutation_p.D1976N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2023	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCTAATAAGGATATAAAGAA	0.378000														17			15		0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15469323	15469323	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:15469323C>T	uc003zlv.4	-	11	1375	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	PSIP1_uc003zlw.4_Missense_Mutation_p.D349N	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	349					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AGTCGAGAATCCATTGATGTT	0.284000														2			23		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5963220	5963220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:5963220G>A	uc001qnm.2	-	3	682	c.610C>T	c.(610-612)Cct>Tct	p.P204S	ANO2_uc021qtt.1_Missense_Mutation_p.P208S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	208						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCTTGGTAGGAACTTTGATC	0.507000														72			33		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559964	33559964	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:33559964C>T	uc001rll.1	-	2	1134	c.837G>A	c.(835-837)agG>agA	p.R279R	SYT10_uc009zju.1_Silent_p.R89R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	279	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.D278N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTTCTTTTTCCTATCTGGAA	0.358000														5			11		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:47120418C>T	uc001wwg.3	-	0	611	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000														43			23		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018827	143018827	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:143018827G>A	uc003wcr.1	+	4	669	c.582G>A	c.(580-582)atG>atA	p.M194I	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Missense_Mutation_p.M42I	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	194					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCCCCGAAATGAAGACAATAC	0.498000														53			54		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296141	233296141	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:233296141G>A	uc001hvl.2	-	18	3640	c.3405C>T	c.(3403-3405)gcC>gcT	p.A1135A	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1135						integral to membrane		p.A1135S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAAACCCCACGGCTCCAGCCA	0.493000														7			22		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72406140	72406140	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:72406140G>A	uc001osu.3	-	26	3768	c.3579C>T	c.(3577-3579)gtC>gtT	p.V1193V	ARAP1_uc001osv.3_Silent_p.V1193V|ARAP1_uc001osr.3_Silent_p.V953V|ARAP1_uc001oss.3_Silent_p.V948V|ARAP1_uc009yth.3_Silent_p.V887V|ARAP1_uc010rre.2_Silent_p.V948V	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1193	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGATGCTGGGACCTGCAAGG	0.582000														1			42		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113114668	113114668	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:113114668C>T	uc003ead.2	-	14	1886	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	WDR52_uc003eae.2_Missense_Mutation_p.D607N	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	607										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGCTTATAATCCCTTTCCACT	0.348000														33			16		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794688	42794688	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:42794688T>C	uc002otf.1	+	9	1808	c.1768T>C	c.(1768-1770)Ttc>Ctc	p.F590L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	590	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCAACCCGGTTCCTCCCAAT	0.697000			"""Mis, F, S"""		oligodendroglioma									67			36		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110252476	110252476	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:110252476C>T	uc001tpj.2	-	0	221	c.126G>A	c.(124-126)ggG>ggA	p.G42G	TRPV4_uc001tpg.2_Intron|TRPV4_uc021rdp.1_Silent_p.G42G|TRPV4_uc001tph.2_Silent_p.G42G|TRPV4_uc001tpi.2_Silent_p.G42G|TRPV4_uc001tpk.2_Silent_p.G42G	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	42					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGCCATCCTCCCCCTCAAACA	0.677000														5			8		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480638	57480638	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:57480638C>T	uc009vzx.1	-	11	1682	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	DAB1_uc001cyt.1_Silent_p.Q452Q|DAB1_uc001cyq.1_Silent_p.Q452Q|DAB1_uc001cyr.1_Silent_p.Q368Q|DAB1_uc009vzw.1_Silent_p.Q436Q|DAB1_uc001cys.1_Silent_p.Q454Q	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	487					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CGTCTGTATCCTGTGCCACCC	0.567000														17			19		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98865158	98865158	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:98865158C>T	uc003htt.2	-	8	1024	c.934_splice	c.e8-1	p.E312_splice		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	312										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TGCCAAAATTCCTGTTGAAAG	0.323000														42			18		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860910	52860910	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:52860910G>A	uc003gzi.3	-	3	2285	c.2278C>T	c.(2278-2280)Caa>Taa	p.Q760*		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	760						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGAATTGTTTGGAAGGTAACA	0.478000														29			28		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900668	151900668	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:151900668G>A	uc022chj.1	-	0	133	c.133C>T	c.(133-135)Cta>Tta	p.L45L	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.L45L|MAGEA12_uc022chi.1_Silent_p.L45L|MAGEA12_uc004fgc.3_Silent_p.L45L|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	45										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCCACTAGAGTAGAGGAG	0.632000														3			21		0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153946425	153946425	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:153946425G>A	uc001fdm.1	+	9	1340	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CREB3L4_uc001fdn.3_Missense_Mutation_p.E358K|CREB3L4_uc010pef.1_Missense_Mutation_p.E211K|CREB3L4_uc001fdo.3_Missense_Mutation_p.E338K|CREB3L4_uc001fdr.2_Missense_Mutation_p.E358K|CREB3L4_uc001fdq.2_Missense_Mutation_p.E338K	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	358					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGACTGAGGGAGCCACCTGG	0.552000														25			34		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121875	103121875	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:103121875G>A	uc002tbz.4	+	3	1600	c.1143G>A	c.(1141-1143)tgG>tgA	p.W381*		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	381					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATCACGAGTGGAACTGGGCCT	0.532000														23			17		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59835523	59835523	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:59835523C>T	uc001xdz.1	+	25	3308	c.3183C>T	c.(3181-3183)acC>acT	p.T1061T	DAAM1_uc001xea.1_Silent_p.T1051T|DAAM1_uc001xec.1_Non-coding_Transcript	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	1061					actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AACGTATTACCAACCAGATGA	0.383000														24			11		0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52020621	52020621	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:52020621G>A	uc003dcp.3	+	8	851	c.527_splice	c.e8-1	p.G176_splice	ACY1_uc011bea.2_Splice_Site_p.G266_splice|ACY1_uc011beb.2_Splice_Site_p.G176_splice|ACY1_uc003dcq.3_Splice_Site_p.G176_splice|ACY1_uc021wzb.1_Splice_Site_p.G141_splice|ACY1_uc021wzc.1_Splice_Site_p.G104_splice|ACY1_uc021wzd.1_Splice_Site_p.G176_splice	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	176					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CCCTCCTCAGGCATAGCCAAT	0.582000														65			67		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28913665	28913665	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:28913665C>T	uc002kwp.3	+	6	1010	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	266	Cadherin 2.				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)			ATGATAATATCCCTTACATGG	0.393000														26			10		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432674	50432674	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:50432674G>A	uc002lfe.2	+	2	1289	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	DCC_uc010xdr.1_Missense_Mutation_p.E73K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	225	Ig-like C2-type 2.				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)		AACAGGAAATGAAGCAGAAGT	0.423000														29			19		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74367330	74367330	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:74367330G>A	uc002axa.1	-	10	901	c.860C>T	c.(859-861)tCc>tTc	p.S287F	DQ596164_uc021sqd.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	287										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGGCGCCAGGGATGGGGGCTC	0.547000														17			20		0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677431	55677431	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:55677431C>T	uc002qjl.1	-	3	229	c.227_splice	c.e3-1	p.R76_splice	DNAAF3_uc002qji.1_Intron|DNAAF3_uc002qjj.1_Intron|DNAAF3_uc002qjk.1_Intron	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	28																	CGTAGCATCCCCTATAAAAAA	0.572000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			8		0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90212868	90212868	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:90212868G>A	uc010upx.1	-	5	744	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	PLIN1_uc002boh.2_Missense_Mutation_p.P212S	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	212					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TTGGCCTTGGGAGACTTCTGG	0.622000														21			14		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40191608	40191608	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:40191608C>T	uc002yxf.3	+	8	1453	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	ETS2_uc002yxg.3_Silent_p.F331F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	331					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CCATGTCTTTCAAGGATTACA	0.537000														9			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509279	110509279	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:110509279T>A	uc003yne.3	+	63	10563	c.10459T>A	c.(10459-10461)Tat>Aat	p.Y3487N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3487					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)			ATGCTGGGATTATGGAATTTA	0.338000										HNSCC(38;0.096)				22			12		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66872782	66872782	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:66872782C>T	uc002jhq.3	-	33	4602	c.4262G>A	c.(4261-4263)gGa>gAa	p.G1421E	ABCA8_uc002jhp.3_Missense_Mutation_p.G1381E|ABCA8_uc010wqq.2_Missense_Mutation_p.G1416E	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1381	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)					TCTCTTTATTCCCTCTGACAA	0.527000														37			22		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128558	55128558	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:55128558G>A	uc003pcl.3	+	3	1015	c.700G>A	c.(700-702)Gca>Aca	p.A234T	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.A169T	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	234					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GACATACATGGCACCACTGTG	0.388000														10			11		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801066	185801066	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:185801066C>T	uc002uph.3	+	3	1537	c.943C>T	c.(943-945)Caa>Taa	p.Q315*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	315						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGCAAGTTTCAACTTCAGTT	0.338000														15			9		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160263246	160263246	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:160263246G>A	uc001fvv.4	-	25	3105	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F	COPA_uc009wti.3_Missense_Mutation_p.S895F	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	895					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCCCCAGGGGATATATCCTA	0.473000														11			5		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385583	58385583	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:58385583T>A	uc002qqo.2	-	2	1447	c.1175A>T	c.(1174-1176)tAt>tTt	p.Y392F	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	392					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GAAGCTAGCATATTTGCTAAA	0.368000														5			3		0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24566227	24566228	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:24566227_24566228CC>TT	uc001wlt.3	+	1	288_289	c.156_157CC>TT	c.(154-159)gcccgc>gcTTgc	p.R53C	NRL_uc001wlp.3_5'Flank|NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.R53C|PCK2_uc010tnw.2_Intron|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.2_5'UTR|PCK2_uc001wlu.4_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	53					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGCACAGTGCCCGCCTGTGCCA	0.579000														41			17		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923842	43923842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:43923842C>T	uc010wka.2	+	0	1587	c.1570C>T	c.(1570-1572)Ctc>Ttc	p.L524F	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	524						integral to membrane	aspartic-type endopeptidase activity										AGAGCTCAGCCTCTTCTGGAC	0.632000														35			39		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42088185	42088185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:42088185G>A	uc011kbh.2	-	4	675	c.584C>T	c.(583-585)cCc>cTc	p.P195L	GLI3_uc011kbg.2_Missense_Mutation_p.P136L	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	195					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTAATGTAGGGATGTGGAGG	0.552000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					74			50		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11012923	11012923	+	RNA	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:11012923T>C	uc002yis.1	-	8		c.1698A>G						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACCTAGCTTTTTTACTTTT	0.289000														13			11		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	88394	88394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrGL000209.1:88394C>T	uc002quk.1	+	2	209	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	52							receptor activity										GTGTCGCTCTCGTCTTGGGTT	0.557000														15			20		0	0	1	0	0
ATP6V1G2	534	broad.mit.edu	37	6	31513937	31513937	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:31513937C>T	uc003nua.3	-	1	421	c.132G>A	c.(130-132)gtG>gtA	p.V44V	DDX39B_uc003ntv.3_5'UTR|ATP6V1G2_uc003ntz.3_Silent_p.V3V|ATP6V1G2_uc021yur.1_Intron|NFKBIL1_uc011dnr.2_5'Flank|NFKBIL1_uc011dns.2_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.3_5'Flank|NFKBIL1_uc003nub.3_5'Flank	NM_130463	NP_612139	O95670	VATG2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 (ATP6V1G2), transcript variant 1, mRNA.	44					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						GGTATTGCTCCACCTCCATCT	0.592000														53			20		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121020	124121020	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:124121020C>T	uc001pzx.3	+	0	598	c.598C>T	c.(598-600)Cta>Tta	p.L200L		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		ACTACTTATTCTATGTGTTGG	0.403000														4			28		0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563765	156563765	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:156563765C>T	uc001fph.3	+	5	795	c.756C>T	c.(754-756)acC>acT	p.T252T	APOA1BP_uc001fpi.3_Missense_Mutation_p.R234W|APOA1BP_uc001fpk.3_Silent_p.T149T|APOA1BP_uc010php.1_Silent_p.T149T	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	252	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCAGTTTACCGGTCGCTACC	0.542000														137			59		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894365	54894365	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:54894365C>T	uc001sgc.4	+	2	341	c.262C>T	c.(262-264)Ctc>Ttc	p.L88F	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.L38F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	88					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTAGATTCCTCACCAACTA	0.388000														43			26		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111729274	111729274	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:111729274C>T	uc001tsa.2	+	4	508	c.354C>T	c.(352-354)ccC>ccT	p.P118P	CUX2_uc001tsb.2_Silent_p.P173P	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GACTGCAGCCCCCCAGCTTTG	0.617000														40			25		0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161127057	161127057	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:161127057T>A	uc001fyd.4	+	2	459	c.205T>A	c.(205-207)Tgc>Agc	p.C69S	USP21_uc010pkc.2_5'Flank|USP21_uc010pkd.2_5'Flank	NM_016406	NP_057490	Q9Y3C8	UFC1_HUMAN	Homo sapiens ubiquitin-fold modifier conjugating enzyme 1 (UFC1), mRNA.	69					protein ufmylation		UFM1 conjugating enzyme activity|protein binding			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTTTGGAAAATGCTGGTATAT	0.438000														90			33		0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004791	102004791	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:102004791C>T	uc022cbi.1	+	0	868	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	BHLHB9_uc010nog.3_Nonsense_Mutation_p.Q290*|BHLHB9_uc011mrq.2_Nonsense_Mutation_p.Q290*|BHLHB9_uc011mrr.2_Nonsense_Mutation_p.Q290*|BHLHB9_uc011mrs.2_Nonsense_Mutation_p.Q290*|BHLHB9_uc011mrt.2_Nonsense_Mutation_p.Q290*|BHLHB9_uc004ejo.3_Nonsense_Mutation_p.Q290*|BHLHB9_uc011mru.2_Nonsense_Mutation_p.Q290*|BHLHB9_uc011mrv.2_Nonsense_Mutation_p.Q290*	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	290						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCTGCATCCAGACCATAGA	0.473000														3			27		0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149919801	149919801	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:149919801C>T	uc003lsk.4	+	7	2226	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	NDST1_uc011dcj.2_Missense_Mutation_p.S575F	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	575	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATCTTCTCCGAGGAGAAG	0.617000														17			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834088	61834088	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:61834088G>A	uc001jky.3	-	36	6889	c.6551C>T	c.(6550-6552)cCc>cTc	p.P2184L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2184					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGGGTCTGGGGAACATCCCC	0.448000														48			27		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872587	213872587	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:213872587G>A	uc002vem.3	-	7	1247	c.1078C>T	c.(1078-1080)Cat>Tat	p.H360Y	IKZF2_uc010fuu.3_Missense_Mutation_p.H215Y|IKZF2_uc002vej.3_Missense_Mutation_p.H307Y|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.H286Y|IKZF2_uc002vel.3_Missense_Mutation_p.H281Y|IKZF2_uc010fuw.3_Missense_Mutation_p.H134Y|IKZF2_uc010fux.3_Missense_Mutation_p.H134Y|IKZF2_uc010fuy.3_Missense_Mutation_p.H288Y|IKZF2_uc002ven.3_Missense_Mutation_p.H334Y|IKZF2_uc002vei.3_Missense_Mutation_p.H138Y	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H360L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTATTTGGATGATAGACCTGA	0.498000														17			17		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196699017	196699017	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:196699017C>T	uc002utj.4	-	47	9114	c.9013G>A	c.(9013-9015)Gaa>Aaa	p.E3005K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3005	AAA 5 (By similarity).				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						TTGGCTTTTTCCATGTTCTTG	0.408000														15			17		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65394966	65394966	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:65394966C>A	uc001oey.2	+	21	3615	c.3615C>A	c.(3613-3615)ttC>ttA	p.F1205L	PCNXL3_uc001oez.2_Missense_Mutation_p.F92L	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1205						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGTTGGCCTTCACCGTCCTGC	0.617000														8			96		3.79737e-34	3.86755e-34	1	1	0
SLC6A12	6539	broad.mit.edu	37	12	306561	306561	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:306561A>C	uc001qhz.3	-	10	1721	c.1057T>G	c.(1057-1059)Tct>Gct	p.S353A	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.S353A|SLC6A12_uc001qib.3_Missense_Mutation_p.S353A|SLC6A12_uc009zdh.2_Missense_Mutation_p.S353A	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	353					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCCACTTCAGAAATGGGCACC	0.557000														12			6		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35808549	35808549	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:35808549C>T	uc003anu.4	+	7	1060	c.966C>T	c.(964-966)ttC>ttT	p.F322F	MCM5_uc003anv.4_Silent_p.F279F|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Silent_p.F106F	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	322					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGGAGGAGTTCCGTCGCCTGG	0.612000														45			39		0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363885	70363885	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:70363885C>T	uc002eyo.3	+	8	1066	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Silent_p.L287L|DDX19B_uc010vlw.2_Silent_p.L204L|DDX19B_uc002eyp.3_Silent_p.L282L|DDX19B_uc002eyq.3_Silent_p.L204L|DDX19B_uc010vlx.2_Silent_p.L162L|LOC100506083_uc002eyt.3_Intron	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	313	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GTACTATGTCCTGTGCAGCAG	0.522000														49			53		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111034	11111034	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:11111034C>T	uc003jfa.1	-	13	2544	c.2399G>A	c.(2398-2400)gGc>gAc	p.G800D	CTNND2_uc010itt.2_Missense_Mutation_p.G709D|CTNND2_uc011cmy.1_Missense_Mutation_p.G463D|CTNND2_uc011cmz.1_Missense_Mutation_p.G367D|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G367D	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	800					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCATCCTTGCCATTGGCCTC	0.552000														152			105		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756761	54756761	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54756761G>A	uc010yer.1	-	8	1531	c.1420C>T	c.(1420-1422)Cgg>Tgg	p.R474W	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.R483W|LILRB5_uc002qez.3_Missense_Mutation_p.R383W|LILRB5_uc002qex.3_Missense_Mutation_p.R482W|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	482					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.L473F(1)|p.L473L(1)		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)		CTCTGATGCCGATGTCggagg	0.627000														51			36		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437379	1437379	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:1437379G>A	uc002qwr.3	+	4	435	c.349_splice	c.e4+1	p.D117_splice	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Splice_Site_p.D117_splice|TPO_uc002qww.3_Splice_Site_p.D117_splice|TPO_uc002qwx.3_Splice_Site_p.D117_splice|TPO_uc002qwu.3_Splice_Site_p.D117_splice|TPO_uc010yio.2_Splice_Site_p.D117_splice|TPO_uc010yip.2_Splice_Site_p.D117_splice	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	117					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.D117N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCATCCAACGGGTAATGTGTG	0.498000														14			8		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41726102	41726102	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:41726102C>T	uc003azw.3	+	5	736	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	ZC3H7B_uc003azv.1_Missense_Mutation_p.P174S	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	174					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTATAAGAGGCCCCAGGTAGG	0.642000														18			18		0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31119828	31119828	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:31119828G>A	uc001wqm.1	+	8	751	c.727G>A	c.(727-729)Ggt>Agt	p.G243S	SCFD1_uc001wqn.1_Missense_Mutation_p.G176S|SCFD1_uc010tpg.1_Missense_Mutation_p.G184S|SCFD1_uc010tph.1_Missense_Mutation_p.G58S|SCFD1_uc010amf.1_Missense_Mutation_p.G58S|SCFD1_uc010tpi.1_Missense_Mutation_p.G151S|SCFD1_uc010amd.1_Missense_Mutation_p.G75S	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	243					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCTTTTTACAGGTGATACACT	0.289000														19			5		0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107100110	107100110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:107100110C>T	uc003prm.3	+	5	700	c.584C>T	c.(583-585)tCg>tTg	p.S195L	QRSL1_uc003prl.2_Missense_Mutation_p.S195L	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	195					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		ACAGGAGGATCGACCAGAAAT	0.408000														30			19		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510905	104510906	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:104510905_104510906GG>AA	uc003hxe.1	-	4	1472_1473	c.1331_1332CC>TT	c.(1330-1332)tcc>tTT	p.S444F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	444						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGCAGATTTGGAATTCCTGCG	0.470000														44			46		0	0	1	0	0
ZAR1	326340	broad.mit.edu	37	4	48495020	48495020	+	Silent	SNP	C	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:48495020C>A	uc003gyd.3	+	2	1122	c.1122C>A	c.(1120-1122)atC>atA	p.I374I		NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN	Homo sapiens zygote arrest 1 (ZAR1), mRNA.	374					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						TGGAGGATATCACCTGTCAAG	0.408000														21			25		2.41591e-17	2.443e-17	1	1	0
TMC2	117532	broad.mit.edu	37	20	2604920	2604920	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:2604920G>A	uc002wgf.1	+	16	2199	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G	TMC2_uc002wgg.1_Silent_p.G712G	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	728						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCCAGTGGGAAAAACAGAA	0.517000														56			25		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60821803	60821803	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:60821803C>T	uc010dds.3	-	5	868	c.583G>A	c.(583-585)Gca>Aca	p.A195T	MARCH10_uc010ddr.3_Missense_Mutation_p.A157T|MARCH10_uc002jag.4_Missense_Mutation_p.A157T|MARCH10_uc002jah.2_Missense_Mutation_p.A156T	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	157							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCCCCAGATGCTCTCGGGCTG	0.537000														49			38		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349307	90349307	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:90349307G>A	uc002bop.4	-	1	800	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	170	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCTTCACCAGGGAGCCCTTG	0.622000														39			27		0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33517323	33517323	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:33517323G>A	uc002xbg.3	-	11	1262	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	GSS_uc010zun.2_Silent_p.S266S|GSS_uc010zuo.2_Silent_p.S283S|GSS_uc010zup.2_Silent_p.S325S|GSS_uc010gez.1_Silent_p.S124S	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	394					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TGAGGATGTAGGAGGCCCTCT	0.552000														207			93		0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222920008	222920008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:222920008G>A	uc001hnt.3	+	2	387	c.121G>A	c.(121-123)Gag>Aag	p.E41K	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	41	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TAGCACAgaggaggaggagga	0.443000														29			7		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22362782	22362782	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:22362782C>T	uc021rpj.1	+	0	213	c.42C>T	c.(40-42)acC>acT	p.T14T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		TGATTTTTACCCTGGGTTAGT	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			16		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2019087	2019087	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:2019087G>A	uc021qsx.1	-	3	702	c.471C>T	c.(469-471)ttC>ttT	p.F157F	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.F157F	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	157						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGGATTCATTGAATTCGTGGT	0.592000														6			9		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903583	5903583	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:5903583G>A	uc002wmg.3	+	3	1099	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	265						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAATCTGAGGAAGGTGAGGA	0.607000														19			4		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459884	186459884	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:186459884G>A	uc011bsa.2	+	9	1933	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	567					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TCAGGACTCTGATCTCATTGC	0.473000														37			29		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302002	128302002	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:128302002G>A	uc003kuy.3	+	1	568	c.172G>A	c.(172-174)Gat>Aat	p.D58N	SLC27A6_uc003kuz.3_Missense_Mutation_p.D58N	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	58					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GACTGTGCTGGATAAATTCTT	0.448000														22			27		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121867	103121867	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:103121867C>T	uc002tbz.4	+	3	1592	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	379					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGCAAGAATCACGAGTGGAA	0.537000														23			17		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9757672	9757672	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:9757672C>T	uc021wst.1	+	13	1008	c.837C>T	c.(835-837)tcC>tcT	p.S279S	CPNE9_uc003bsd.3_Silent_p.S278S	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	279										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CGCTGCTCTCCTTCTCTGTGG	0.532000											OREG0015381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			7		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982328	118982328	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:118982328C>T	uc004bjn.3	+	4	2412	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	PAPPA_uc011lxp.1_Silent_p.L372L|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	677					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGTTGCCCTCGCCCCCCAAG	0.577000														8			125		0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128841	197128841	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:197128841G>A	uc001gtx.1	-	9	2447	c.2378C>T	c.(2377-2379)tCg>tTg	p.S793L	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTTGGCTTCCGACTGATAAAC	0.423000														89			39		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217148305	217148305	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:217148305G>A	uc002vgb.3	-	1	2431	c.664C>T	c.(664-666)Cct>Tct	p.P222S		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	222						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCTGCAGAGGATTTTTTGTG	0.572000														38			23		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404411	20404411	+	Missense_Mutation	SNP	G	A	A	rs149331048		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:20404411G>A	uc001vwj.2	+	0	645	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATGAAATGGAAATTATGAC	0.448000														61			25		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555261	10555261	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:10555261G>A	uc003wtd.1	+	2	423	c.394G>A	c.(394-396)Gac>Aac	p.D132N	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	132										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGGCCAGGACCAGCAGGT	0.622000														99			76		0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229675332	229675332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:229675332G>A	uc001htp.4	-	5	1253	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	404	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTCCGGAGAGCCCAGTCTGT	0.493000														45			24		0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40717077	40717077	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:40717077C>T	uc001cfe.2	+	1	453	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	120						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATAATCTTTTCCTGTCCTTGG	0.388000														29			12		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769369	148769369	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:148769369G>A	uc003wfh.2	-	3	632	c.495C>T	c.(493-495)atC>atT	p.I165I	ZNF786_uc011kuk.1_Silent_p.I128I|ZNF786_uc003wfi.2_Silent_p.I79I	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGACCTGGGATTCCTTCTT	0.612000														15			17		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641458	99641458	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:99641458C>T	uc001yga.3	-	3	1982	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	BCL11B_uc001ygb.3_Missense_Mutation_p.G501E	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	572	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cccgggcACCCCACCACCGCC	0.711000			T	TLX3	T-ALL									7			6		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36211033	36211033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:36211033C>T	uc021usv.1	+	2	784	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	714	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.A262D(2)|p.A262A(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGTGAAACATCAGACTGGCAG	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				4			5		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183667837	183667837	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:183667837G>A	uc003fmg.3	-	20	3186	c.3021C>T	c.(3019-3021)atC>atT	p.I1007I	ABCC5_uc011bqt.2_Silent_p.I535I|ABCC5_uc010hxl.3_Silent_p.I1007I	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1007	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGACTCCTGCGATCATTCCCA	0.512000														13			7		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52779371	52779371	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:52779371T>G	uc002xwv.2	-	6	1273	c.875A>C	c.(874-876)aAg>aCg	p.K292T	CYP24A1_uc002xwu.1_Missense_Mutation_p.K150T|CYP24A1_uc002xww.2_Missense_Mutation_p.K292T	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	292					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.L290_Y293>Y(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CTGAGAATACTTCTCTAACCG	0.423000														52			15		0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50482441	50482441	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:50482441G>A	uc002prg.2	-	13	1433	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	VRK3_uc002prh.1_Silent_p.P445P|VRK3_uc002pri.1_Silent_p.P395P|VRK3_uc010ens.2_Silent_p.P445P|VRK3_uc010ybl.1_Silent_p.P395P|VRK3_uc010ybm.1_Silent_p.P214P	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	445	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GCATGGCGTAGGGCGGCTTCT	0.577000														17			16		0	0	1	0	0
TFPI2	7980	broad.mit.edu	37	7	93516626	93516626	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:93516626C>T	uc003umy.1	-	3	653	c.578G>A	c.(577-579)gGg>gAg	p.G193E	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.G168R|TFPI2_uc003una.1_Missense_Mutation_p.G182E	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	193	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTGTCATTCCCTCCACAGCC	0.388000														57			37		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997465	115997465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:115997465G>A	uc003ibu.3	-	1	1407	c.728C>T	c.(727-729)tCc>tTc	p.S243F	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	243	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGATGACAGGGATTTTTCTGT	0.423000														36			33		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102486385	102486385	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:102486385C>T	uc001yks.2	+	41	8663	c.8499C>T	c.(8497-8499)ttC>ttT	p.F2833F	DYNC1H1_uc001ykt.1_Silent_p.F324F	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2833					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCGTCTCTTCCAAGATAGGT	0.557000														19			6		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603211	47603211	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:47603211C>T	uc001cqv.1	+	0	105	c.54C>T	c.(52-54)atC>atT	p.I18I	CYP4A22_uc009vyo.3_Silent_p.I18I|CYP4A22_uc009vyp.3_Silent_p.I18I	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	18						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCGGGATCCTCCAAGTGA	0.597000														45			33		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811950	156811950	+	Silent	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:156811950T>C	uc010pht.2	-	18	3650	c.3351A>G	c.(3349-3351)gcA>gcG	p.A1117A	NTRK1_uc001fqf.1_Silent_p.A29A|NTRK1_uc009wsi.1_5'UTR	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1117	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTTGCGGGCTGCTAGATCTC	0.567000														30			11		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374087	39374087	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:39374087C>T	uc010hhr.2	+	1	403	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	CCR8_uc003cjm.2_Intron|CCR8_uc021wwe.1_Missense_Mutation_p.P89S	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	89					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTCTCCTTCCCCTTTCAGAC	0.488000														74			59		0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43964457	43964457	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:43964457G>A	uc002xnu.3	-	1	204	c.164C>T	c.(163-165)tCt>tTt	p.S55F	SDC4_uc010zws.2_Intron	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	55						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AAAGTCATCAGATTCCTGCCC	0.602000			T	ROS1	NSCLC									20			33		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948485	198948485	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:198948485C>T	uc010fsp.3	+	1	642	c.244C>T	c.(244-246)Cct>Tct	p.P82S	PLCL1_uc002uuv.4_Missense_Mutation_p.P3S	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	82					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTACAGGATCCTTCAAACCA	0.343000														14			8		0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24981921	24981921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:24981921G>A	uc003aaq.2	-	3	910	c.881C>T	c.(880-882)cCt>cTt	p.P294L	GGT1_uc003aan.1_Intron|FAM211B_uc003aao.2_Non-coding_Transcript	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	Homo sapiens family with sequence similarity 211, member B (FAM211B), mRNA.	294																	GGTGGAGGCAGGGGTGGTGGC	0.701000														13			12		0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97328251	97328251	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:97328251C>T	uc002bue.3	+	2	429	c.222C>T	c.(220-222)atC>atT	p.I74I	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	74								p.R73R(1)|p.R73K(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			ACGGAAGGATCCAAAGGGTTC	0.453000														41			24		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885802	88885802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:88885802G>A	uc003ydz.3	-	0	495	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	133										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATTCAGTGAGGCCCAGCACAT	0.562000														31			29		0	0	1	0	0
MED18	54797	broad.mit.edu	37	1	28661339	28661339	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:28661339C>T	uc021okc.1	+	2	751	c.506C>T	c.(505-507)gCc>gTc	p.A169V	MED18_uc001bpt.4_Missense_Mutation_p.A162V|MED18_uc009vtg.3_Missense_Mutation_p.A162V	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	Homo sapiens mediator complex subunit 18 (MED18), transcript variant 1, mRNA.	162					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		AGCACTGAGGCCTTGTCACTC	0.483000														23			35		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43034711	43034711	+	Silent	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:43034711A>G	uc002xma.3	+	1	218	c.129A>G	c.(127-129)tcA>tcG	p.S43S	HNF4A_uc010zwo.1_Missense_Mutation_p.Q34R|HNF4A_uc002xlt.3_Silent_p.S21S|HNF4A_uc002xlu.3_Silent_p.S21S|HNF4A_uc002xlv.3_Silent_p.S21S|HNF4A_uc002xly.3_Silent_p.S43S|HNF4A_uc010ggq.3_Silent_p.S36S|HNF4A_uc002xlz.3_Silent_p.S43S|MIR3646_uc021wed.1_5'Flank	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	43					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTCCCCATCAGAAGGCACCA	0.622000														198			83		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975021	20975021	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:20975021G>A	uc010vbe.2	-	52	10185	c.10185C>T	c.(10183-10185)ttC>ttT	p.F3395F	DNAH3_uc010vbd.2_Silent_p.F830F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3395					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGTGAGAAGGAAGTACCACA	0.527000														18			18		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304276	10304276	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:10304276C>T	uc002gmm.2	-	26	3350	c.3255_splice	c.e26-1	p.K1085_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1085					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAAATTCTTTCCTTTAGACAG	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					23			8		0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186647530	186647530	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:186647530G>A	uc001gsb.3	-	3	457	c.320C>T	c.(319-321)tCa>tTa	p.S107L	PTGS2_uc009wyo.3_5'UTR	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	107					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	AATCAAATGTGATCTGGCTGA	0.353000														21			14		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218211	57218211	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:57218211C>T	uc010lyk.1	-	5	1419	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	SDR16C5_uc003xsy.1_Missense_Mutation_p.E261K|SDR16C5_uc010lyl.1_Missense_Mutation_p.E217K	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	261					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TACATTTTTTCTTGTAGAATA	0.313000														14			12		0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894232	63894232	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:63894232G>A	uc003jtj.3	+	4	652	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	RGS7BP_uc011cqu.2_Missense_Mutation_p.E85K	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	218					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.R217M(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CAAACTCAGGGAAACTATGCC	0.333000														56			33		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945352	119945352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:119945352C>T	uc003yon.4	-	1	541	c.218G>A	c.(217-219)aGc>aAc	p.S73N	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	73					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GGTGTGCCAGCTGTCTGTGTA	0.547000														49			56		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38912770	38912770	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:38912770C>T	uc021uub.1	-	1	261	c.47G>A	c.(46-48)gGa>gAa	p.G16E	RASGRP4_uc010efz.2_5'Flank|RASGRP4_uc010ega.2_5'Flank|RASGRP4_uc021utz.1_Missense_Mutation_p.G16E|RASGRP4_uc021uua.1_Missense_Mutation_p.G16E|RASGRP4_uc021uuc.1_Missense_Mutation_p.G16E|RASGRP4_uc021uud.1_Missense_Mutation_p.G16E|RASGRP4_uc021uue.1_Missense_Mutation_p.G16E|RASGRP4_uc021uuf.1_Missense_Mutation_p.G16E	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	16					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCTATTTTTCCGGTGCATTC	0.592000														15			14		0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2988248	2988248	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:2988248C>T	uc002csd.3	+	7	2204	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	FLYWCH1_uc002csb.3_Missense_Mutation_p.S613F|FLYWCH1_uc002csc.3_Missense_Mutation_p.S613F|FLYWCH1_uc010bsv.3_Missense_Mutation_p.S338F|FLYWCH1_uc002cse.3_Missense_Mutation_p.S69F	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	614						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GTGCACGAGTCCTTCCTCTAC	0.647000														8			5		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961840	73961840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:73961840G>A	uc004eby.3	-	2	3169	c.2552C>T	c.(2551-2553)tCa>tTa	p.S851L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	851					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						GGGTACAAATGATTTTTCGGT	0.448000														4			43		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3263620	3263620	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:3263620C>T	uc022aqr.1	-	14	2585	c.2195G>A	c.(2194-2196)gGa>gAa	p.G732E	CSMD1_uc011kwj.2_Missense_Mutation_p.G125E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	733	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACTCGGATCCCTGGGTCTT	0.562000														15			11		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154461711	154461711	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:154461711C>T	uc001ffb.3	-	2	864	c.840G>A	c.(838-840)aaG>aaA	p.K280K	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	280										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGAGGTCCTTGGAACTCC	0.637000														60			25		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67014668	67014668	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:67014668A>T	uc002jhu.3	-	19	2796	c.2653T>A	c.(2653-2655)Tac>Aac	p.Y885N	ABCA9_uc010dez.3_Missense_Mutation_p.Y885N	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	885					transport	integral to membrane	ATP binding|ATPase activity	p.F884L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATGACTCGTAGAATAGATGT	0.368000														105			89		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055810	68055810	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:68055810G>A	uc003dnd.3	+	1	257	c.41G>A	c.(40-42)tGg>tAg	p.W14*	FAM19A1_uc003dne.3_Nonsense_Mutation_p.W14*|FAM19A1_uc003dng.3_Nonsense_Mutation_p.W14*|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	14						endoplasmic reticulum|extracellular region		p.L13F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CTGTATTTGTGGATAAGTGCT	0.522000														54			26		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64669617	64669617	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:64669617C>T	uc001xgl.3	+	99	18367	c.18137C>T	c.(18136-18138)tCc>tTc	p.S6046F	SYNE2_uc001xgm.3_Missense_Mutation_p.S6046F|SYNE2_uc010apy.3_Missense_Mutation_p.S2431F|SYNE2_uc001xgn.3_Missense_Mutation_p.S1008F|SYNE2_uc021rui.1_Missense_Mutation_p.S1053F|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.S16F|SYNE2_uc001xgq.3_Missense_Mutation_p.S411F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6046					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGAGCTTTCCAAGCCTGTT	0.478000														15			15		0	0	1	0	0
C20orf160	140706	broad.mit.edu	37	20	30610479	30610479	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:30610479C>T	uc002wxf.2	+	5	963	c.950C>T	c.(949-951)tCc>tTc	p.S317F	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	317										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						GCAGAGGAGTCCTGCGCACTC	0.552000														112			32		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203600	26203600	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:26203600T>A	uc002rgu.2	-	0	1844	c.1187A>T	c.(1186-1188)aAg>aTg	p.K396M	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.K396M	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	396					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCCCCCTCTTCTCCAGCTG	0.637000														35			27		0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760883	186760883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:186760883C>T	uc003frb.3	+	3	1025	c.392C>T	c.(391-393)cCa>cTa	p.P131L	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Missense_Mutation_p.P131L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	131					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGCCAGGACCAGGCATCAAG	0.488000														15			12		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24181439	24181439	+	Silent	SNP	C	T	T	rs141430545	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:24181439C>T	uc003xdy.3	+	8	896	c.813C>T	c.(811-813)ttC>ttT	p.F271F	ADAM28_uc003xdx.3_Silent_p.F271F|ADAM28_uc011kzz.2_Silent_p.F38F|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	271	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGCAAGCTTCACCTTGGAGA	0.388000														26			16		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149294570	149294570	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:149294570C>T	uc003lrg.4	-	6	1054	c.934_splice	c.e6-1	p.E312_splice	PDE6A_uc021yfs.1_Splice_Site_p.E231_splice	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	312	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAGTTAATTTCCTGGCAAAAG	0.368000														22			22		0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335167	192335167	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:192335167C>T	uc001gsh.3	+	4	546	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	124	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AGGATTCTTTCCCTCGATTTC	0.373000														31			30		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52851021	52851021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:52851021C>T	uc011bem.2	-	20	2393	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	ITIH4_uc011bel.2_Missense_Mutation_p.E498K|ITIH4_uc003dfy.3_Missense_Mutation_p.E579K|ITIH4_uc003dfz.3_Missense_Mutation_p.E784K|ITIH4_uc011ben.2_Missense_Mutation_p.E754K	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	784					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGTCACTTCGATCCATGAG	0.582000														44			35		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130785890	130785890	+	RNA	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:130785890C>T	uc002tpy.1	-	0		c.3602G>A			LOC440905_uc002tpz.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		ACCTGGGTTTCCTTCCAGTGA	0.493000														8			9		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39433696	39433696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:39433696G>A	uc001uwv.3	+	13	7797	c.7488G>A	c.(7486-7488)atG>atA	p.M2496I	FREM2_uc001uww.3_Missense_Mutation_p.M582I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2496					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGAGCTCATGAGCCCTATTG	0.488000														8			10		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958829	51958829	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:51958829C>T	uc002pwt.3	-	3	961	c.894G>A	c.(892-894)ggG>ggA	p.G298G	SIGLEC8_uc010yda.2_Silent_p.G189G|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Silent_p.G205G	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	298	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGTCAGGCTCCCCCGGGTCC	0.622000														14			16		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40397449	40397449	+	Silent	SNP	C	T	T	rs137879982		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:40397449C>T	uc002rrx.3	-	5	2034	c.2010G>A	c.(2008-2010)ccG>ccA	p.P670P	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.P665P|SLC8A1_uc002rsb.2_Silent_p.P662P|SLC8A1_uc002rrz.3_Silent_p.P657P|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	670					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAGAGAGAATCGGATGTTCTC	0.423000														22			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228338	140228338	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140228338G>A	uc003lhu.2	+	0	982	c.258G>A	c.(256-258)gtG>gtA	p.V86V	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_uc003lht.1_Silent_p.V86V	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	101	Cadherin 1.				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)			TTTTGTTTGTGAATTCTCGGA	0.607000														119			68		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458654	12458654	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:12458654G>A	uc003bwx.3	+	6	1361	c.1270_splice	c.e6+1	p.D424_splice	PPARG_uc003bwr.3_Splice_Site_p.D396_splice|PPARG_uc003bws.3_Splice_Site_p.D396_splice|PPARG_uc003bwu.3_Splice_Site_p.D396_splice|PPARG_uc003bwv.3_Intron	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	424	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CTCAGTGGAGGTAAGATTTGT	0.398000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							10			4		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27805005	27805006	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:27805005_27805006CC>TT	uc002rkz.4	+	0	5617_5618	c.5566_5567CC>TT	c.(5566-5568)ccc>TTc	p.P1856F	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1856	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.							p.S1873Y(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCACCTCAGTCCCTTGGAAAGA	0.550000														47			23		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141108564	141108564	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:141108564G>A	uc002tvj.1	-	76	12666	c.11694C>T	c.(11692-11694)atC>atT	p.I3898I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3898					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAACCCAGGATATCAGTGT	0.289000										TSP Lung(27;0.18)				36			22		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831723	32831723	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:32831723C>T	uc003amn.2	-	7	892	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	BPIFC_uc010gwo.2_Missense_Mutation_p.G112R|BPIFC_uc011amb.1_Missense_Mutation_p.G22R	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	298						extracellular region	lipopolysaccharide binding|phospholipid binding										TTGAAAACCCCAGCTGTGAAA	0.443000														15			18		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101933	47101933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:47101933G>A	uc002ldv.3	+	4	1018	c.766G>A	c.(766-768)Gat>Aat	p.D256N	LIPG_uc002ldu.1_Missense_Mutation_p.D256N|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	256					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.D256N(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGGACTCAACGATGTCTTGGG	0.483000														19			9		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872800	213872800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:213872800G>A	uc002vem.3	-	7	1034	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F	IKZF2_uc010fuu.3_Missense_Mutation_p.L144F|IKZF2_uc002vej.3_Missense_Mutation_p.L236F|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.L215F|IKZF2_uc002vel.3_Missense_Mutation_p.L210F|IKZF2_uc010fuw.3_Missense_Mutation_p.L63F|IKZF2_uc010fux.3_Missense_Mutation_p.L63F|IKZF2_uc010fuy.3_Missense_Mutation_p.L217F|IKZF2_uc002ven.3_Missense_Mutation_p.L263F|IKZF2_uc002vei.3_Missense_Mutation_p.L67F	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATCGCATGAGCTTTTCCCCT	0.378000														8			5		0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468450	52468450	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:52468450T>C	uc002pyd.3	-	4	1484	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	419					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TCTCTTATGCTTAACCAGACA	0.473000														23			28		0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656684	240656684	+	Missense_Mutation	SNP	G	A	A	rs17854405		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:240656684G>A	uc021plf.1	-	0	92	c.92C>T	c.(91-93)cCc>cTc	p.P31L	GREM2_uc001hys.3_Missense_Mutation_p.P31L	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	31				P -> H (in Ref. 3; AAH46632).	BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GTAAGGCGAGGGGATGGCGCC	0.637000														31			10		0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799982	119799982	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:119799982T>A	uc001ldj.2	-	1	888	c.448A>T	c.(448-450)Agt>Tgt	p.S150C	RAB11FIP2_uc009xyz.2_Missense_Mutation_p.S150C	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	150					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCAAACATACTTGCGGTCATA	0.333000														19			17		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126333096	126333096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:126333096G>A	uc001qea.3	-	5	1059	c.698C>T	c.(697-699)gCc>gTc	p.A233V	KIRREL3_uc001qeb.3_Missense_Mutation_p.A233V|KIRREL3_uc001qec.1_Missense_Mutation_p.A233V	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	233	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCGGGGATGGCTTTGTTGGT	0.627000														1			22		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141201963	141201963	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:141201963G>A	uc002tvj.1	-	64	11202	c.10230C>T	c.(10228-10230)atC>atT	p.I3410I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3410	LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTACTGGGATACATTTCT	0.393000										TSP Lung(27;0.18)				24			24		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69252767	69252768	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:69252767_69252768GG>AA	uc001sup.3	-	7	1085_1086	c.1024_1025CC>TT	c.(1024-1026)ccc>TTc	p.P342F	CPM_uc001sur.3_Missense_Mutation_p.P342F|CPM_uc001suq.3_Missense_Mutation_p.P342F	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	342					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGTTCTATAGGGGCAGATATGT	0.332000														34			20		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119936442	119936442	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:119936442G>A	uc001ehr.1	+	7	1167	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L	HAO2_uc001ehq.1_Silent_p.L345L	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	345	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ATCGAAACTTGGTCCAGTTTT	0.473000														44			124		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41727078	41727078	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:41727078G>A	uc010ehj.3	+	2	526	c.336G>A	c.(334-336)acG>acA	p.T112T	AXL_uc010ehi.1_Silent_p.T112T|AXL_uc010ehk.3_Silent_p.T112T	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	112	Ig-like C2-type 1.		T -> M (in dbSNP:rs35202236).			integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTTCCGACACGGGACAGTACC	0.592000														17			17		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072945	125072945	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:125072945G>A	uc003yqw.3	+	23	3348	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1048	C2 4.					integral to membrane		p.E1048K(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGACGCTTTCGAAGTGGTGCG	0.517000														26			19		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48769844	48769844	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:48769844G>C	uc003xqi.3	-	49	6536	c.6479C>G	c.(6478-6480)gCg>gGg	p.A2160G	PRKDC_uc003xqj.3_Missense_Mutation_p.A2160G	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2161					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGTGCTTCGCGTAAGGGCG	0.428000								Non-homologous end-joining						10			10		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167453	97167453	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:97167453C>T	uc010how.1	+	6	1816	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	496						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGTCCAAAGCCCCCAGTGTCA	0.453000														17			17		0	0	1	0	0
MALSU1	115416	broad.mit.edu	37	7	23340497	23340497	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:23340497C>T	uc003swd.1	+	1	328	c.296C>T	c.(295-297)tCa>tTa	p.S99L		NM_138446	NP_612455	Q96EH3	CG030_HUMAN	Homo sapiens chromosome 7 open reading frame 30 (C7orf30), mRNA.	99						mitochondrion											ATGATGGTTTCACTTCTGAGG	0.408000														102			86		0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89091967	89091967	+	RNA	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:89091967G>A	uc010fhg.3	+	11		c.1011G>A			ANKRD36BP2_uc010fhh.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		GGCATCAGAGGGAGAGCAAAA	0.328000														6			4		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:86808051G>A	uc002blz.1	+	9	1591	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000														22			17		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46995453	46995453	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:46995453C>T	uc003oyt.3	-	2	313	c.114G>A	c.(112-114)aaG>aaA	p.K38K	GPR110_uc011dwl.2_Intron|GPR110_uc003oyu.1_Silent_p.K38K	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	38					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GATGTTTTTTCTTATTCACAA	0.393000														20			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486229	179486229	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179486229G>A	uc021vsy.1	-	193	37843	c.37618C>T	c.(37618-37620)Cga>Tga	p.R12540*	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R6235*|TTN_uc021vta.1_Nonsense_Mutation_p.R6168*|TTN_uc021vtb.1_Nonsense_Mutation_p.R6043*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13467	Ig-like 83.						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)			CCATCGGTTCGAGAGCTTGGG	0.393000														20			19		0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879856	1879856	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:1879856C>T	uc003jcz.2	-	3	617	c.498G>A	c.(496-498)aaG>aaA	p.K166K	IRX4_uc011cmf.1_Silent_p.K27K	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	166					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGTAGGGGTTCTTGCGGTGCT	0.647000														37			20		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52509103	52509103	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:52509103G>A	uc001vfw.2	-	20	4344	c.4187C>T	c.(4186-4188)aCg>aTg	p.T1396M	ATP7B_uc001vfy.2_Missense_Mutation_p.T1285M|ATP7B_uc010adv.2_Missense_Mutation_p.T966M|ATP7B_uc001vfx.2_Missense_Mutation_p.T1189M|ATP7B_uc010tgt.1_Missense_Mutation_p.T1331M|ATP7B_uc010tgu.1_Missense_Mutation_p.T1348M|ATP7B_uc010tgv.1_Missense_Mutation_p.T1318M|ATP7B_uc001vfv.2_Missense_Mutation_p.T668M|ATP7B_uc010tgs.1_Missense_Mutation_p.T607M	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1396					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTGGGATGCCGTCAGGGGCTT	0.587000									Wilson disease					35			14		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	C	C	rs143761036	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000														49			5		0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74806756	74806756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:74806756G>A	uc021ptk.1	-	6	1036	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	P4HA1_uc010qka.2_Missense_Mutation_p.P335L|P4HA1_uc001jth.3_Missense_Mutation_p.P335L|P4HA1_uc001jtg.3_Missense_Mutation_p.P335L|P4HA1_uc010qkb.2_Missense_Mutation_p.P335L|P4HA1_uc021ptj.1_Missense_Mutation_p.P335L	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	335						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	p.K334N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AATAATACGAGGCTTGTCCCA	0.393000														35			33		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013316	99013316	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:99013316G>A	uc010fij.3	+	7	1836	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G	CNGA3_uc002syt.3_Silent_p.G561G|CNGA3_uc002syu.3_Silent_p.G543G			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	561			T -> M (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAAGTCGGGGAACCGCAGGA	0.592000														75			42		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418926	178418926	+	Silent	SNP	G	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:178418926G>T	uc003mjr.3	-	1	842	c.663C>A	c.(661-663)tcC>tcA	p.S221S	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	221					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGTTGCCCTCGGAGGCCAGCG	0.612000														38			3		1	1	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20638635	20638635	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:20638635C>T	uc002dhm.1	-	9	1371	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.D435N	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	435					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCTCTGGGTCACCCTGCAAA	0.483000														170			120		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747141	26747141	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:26747141C>T	uc003acb.3	+	11	2727	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F	SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Missense_Mutation_p.S844F|SEZ6L_uc003ace.3_Missense_Mutation_p.S844F|SEZ6L_uc011akc.2_Missense_Mutation_p.S844F|SEZ6L_uc003acc.3_Missense_Mutation_p.S844F|SEZ6L_uc003acf.1_Missense_Mutation_p.S617F|SEZ6L_uc010gvc.1_Missense_Mutation_p.S617F|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	844	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAAGGGAGTTCTCTTCTGACC	0.557000														21			16		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157053483	157053483	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:157053483G>A	uc003lxb.1	-	4	2469	c.2127C>T	c.(2125-2127)aaC>aaT	p.N709N	SOX30_uc003lxc.1_3'UTR|SOX30_uc011dds.1_Silent_p.N404N	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	709					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGCACAGGGTTTAAGTTTT	0.458000														26			18		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151772033	151772033	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:151772033T>G	uc003luv.2	-	3	1133	c.967A>C	c.(967-969)Aac>Cac	p.N323H		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	323					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.N323K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ATAATGGGGTTGACAGCTGAG	0.473000														25			25		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832719	150832719	+	Missense_Mutation	SNP	G	A	A	rs72349307		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:150832719G>A	uc004fev.4	+	10	1302	c.970G>A	c.(970-972)Gac>Aac	p.D324N		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	324						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGACCAGCAGGACCCAGAGAA	0.617000														1			29		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167141091	167141091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:167141091C>T	uc010fpl.3	-	11	2187	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.G487R|SCN9A_uc002uds.1_Missense_Mutation_p.G487R|SCN9A_uc002udt.1_Missense_Mutation_p.G487R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	616						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCATTTTCCCGTTCACCGGC	0.592000														28			22		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117027875	117027875	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:117027875G>A	uc001lcg.3	+	12	2440	c.2054G>A	c.(2053-2055)tGg>tAg	p.W685*		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	685	PSI 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGGTGCCAATGGTGTGATGAC	0.403000														28			15		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190182	58190182	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:58190182G>A	uc010rkg.2	-	0	605	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGCAAGACAGAGCCATGACT	0.378000														3			26		0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50357928	50357928	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:50357928G>A	uc001rvo.2	+	2	1104	c.582G>A	c.(580-582)gtG>gtA	p.V194V		NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	194					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						GCCCTGCGGTGGTCATGAATC	0.607000														28			20		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54040559	54040559	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:54040559G>T	uc001jjm.3	+	12	1597	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	PRKG1_uc001jjo.3_Nonsense_Mutation_p.E472*|PRKG1_uc009xow.2_Nonsense_Mutation_p.E175*|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	457	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGGTTCGTTTGAAGATTCTAC	0.333000														29			27		2.85442e-18	2.88937e-18	1	1	0
PLCD1	5333	broad.mit.edu	37	3	38065923	38065923	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38065923A>G	uc003chm.3	-	0	356	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PLCD1_uc003chn.3_Intron	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	0					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGGCACTGCATGGCCCTCCA	0.687000														8			6		0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55783668	55783668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:55783668C>T	uc004dup.3	+	9	1582	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	RRAGB_uc004duq.3_Nonsense_Mutation_p.Q283*	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Homo sapiens Ras-related GTP binding B (RRAGB), transcript variant RAGBl, mRNA.	311					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TGCCTCTTTCCAGAGTATGGA	0.373000														2			15		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133475757	133475757	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:133475757G>A	uc003epu.2	+	11	2502	c.774G>A	c.(772-774)aaG>aaA	p.K258K	TF_uc011blt.2_Silent_p.K131K|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.K258K	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	258	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ATGAATACAAGGACTGCCACT	0.572000														42			34		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168807854	168807854	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:168807854C>T	uc011bpj.1	-	14	3738	c.3335G>A	c.(3334-3336)gGa>gAa	p.G1112E	MECOM_uc010hwk.1_Missense_Mutation_p.G938E|MECOM_uc003ffj.3_Missense_Mutation_p.G989E|MECOM_uc003ffi.3_Missense_Mutation_p.G924E|MECOM_uc011bpi.1_Missense_Mutation_p.G916E|MECOM_uc003ffn.3_Missense_Mutation_p.G924E|MECOM_uc003ffk.2_Missense_Mutation_p.G915E|MECOM_uc003ffl.2_Missense_Mutation_p.G1075E|MECOM_uc011bpk.1_Missense_Mutation_p.G924E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCAGGGTTTCCTTCATGTAA	0.423000														53			24		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043960	117043960	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:117043960G>A	uc011mtp.2	-	5	812	c.679C>T	c.(679-681)Cct>Tct	p.P227S	KLHL13_uc004eqk.3_Missense_Mutation_p.P173S|KLHL13_uc004eql.3_Missense_Mutation_p.P224S|KLHL13_uc011mtn.2_Missense_Mutation_p.P64S|KLHL13_uc011mto.2_Missense_Mutation_p.P218S|KLHL13_uc011mtq.2_Missense_Mutation_p.P208S|KLHL13_uc004eqm.3_Missense_Mutation_p.P182S|KLHL13_uc022cde.1_Missense_Mutation_p.P208S	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	224	BACK.				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						AGCAATGCAGGAAAATTCTTC	0.438000														5			31		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104025427	104025427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:104025427C>T	uc001tjw.3	+	5	725	c.539C>T	c.(538-540)aCc>aTc	p.T180I		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	180	EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCGATGGAACCTGTGAGTGC	0.488000														43			36		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111319004	111319004	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:111319004G>A	uc001trv.1	+	6	952	c.757G>A	c.(757-759)Gag>Aag	p.E253K	CCDC63_uc009zvt.1_Missense_Mutation_p.G107E|CCDC63_uc010sye.1_Missense_Mutation_p.E213K|CCDC63_uc001trw.1_Missense_Mutation_p.E168K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	253										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCGAGAGCTGGAGCGTCTCTA	0.552000														10			10		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42700097	42700097	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:42700097G>A	uc021xxv.1	+	5	769	c.632G>A	c.(631-633)tGg>tAg	p.W211*	GHR_uc003jmt.3_Nonsense_Mutation_p.W204*|GHR_uc003jmu.3_Nonsense_Mutation_p.W204*|GHR_uc003jmv.2_Nonsense_Mutation_p.W204*|GHR_uc021xxw.1_Nonsense_Mutation_p.W204*|GHR_uc021xxx.1_Nonsense_Mutation_p.W204*|GHR_uc021xxy.1_Nonsense_Mutation_p.W204*|GHR_uc021xxz.1_Nonsense_Mutation_p.W204*|GHR_uc021xya.1_Nonsense_Mutation_p.W204*|GHR_uc021xyb.1_Nonsense_Mutation_p.W204*|GHR_uc021xyc.1_Nonsense_Mutation_p.W204*|GHR_uc011cpq.2_Nonsense_Mutation_p.W17*|GHR_uc021xyd.1_Nonsense_Mutation_p.W182*	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	204	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAAACTAAATGGAAAATGGTA	0.358000														6			4		0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	11999180	11999180	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:11999180C>T	uc002kqp.2	+	1	466	c.224C>T	c.(223-225)tCa>tTa	p.S75L	IMPA2_uc010dlb.2_5'UTR|IMPA2_uc021uhq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	75					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	AGGTTTCCTTCACACAGGTAG	0.488000														28			15		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420246	55420246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:55420246C>T	uc001sgp.4	+	1	401	c.23C>T	c.(22-24)tCc>tTc	p.S8F	NEUROD4_uc021qyr.1_Missense_Mutation_p.S8F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	8					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S8F(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TTTGTAAAATCCAAGGAGATG	0.393000														14			7		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155450436	155450436	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155450436A>T	uc009wqq.3	-	2	2705	c.2225T>A	c.(2224-2226)tTt>tAt	p.F742Y	ASH1L_uc001fkt.3_Missense_Mutation_p.F742Y|ASH1L_uc009wqr.1_Missense_Mutation_p.F742Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	742					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACGTTTTTAAAAAGCTCTGA	0.383000														35			43		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034605	128034605	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:128034605C>T	uc011kol.1	-	11	1450	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	IMPDH1_uc011kom.1_Silent_p.Q443Q|IMPDH1_uc003vmt.2_Silent_p.Q423Q|IMPDH1_uc003vmu.2_Silent_p.Q533Q|IMPDH1_uc003vmx.2_Silent_p.Q456Q|IMPDH1_uc003vmy.2_Silent_p.Q464Q|IMPDH1_uc003vmw.2_Silent_p.Q523Q|IMPDH1_uc011kon.1_Silent_p.Q500Q|IMPDH1_uc003vmv.2_Silent_p.Q497Q|DQ595173_uc022ala.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	448					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ATCCTTTGTCCTGGATGGAGC	0.602000														75			45		0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36644056	36644056	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:36644056C>T	uc001bzz.3	+	9	1961	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	MAP7D1_uc001caa.3_Missense_Mutation_p.P550L|MAP7D1_uc001cab.3_Missense_Mutation_p.P545L|MAP7D1_uc001cac.3_Missense_Mutation_p.P282L|MAP7D1_uc001cad.3_Missense_Mutation_p.P119L	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	582	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCCCTGCTCCCCCGGTGACC	0.682000														8			16		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285333	44285333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:44285333C>T	uc010qfe.1	-	0	533	c.503G>A	c.(502-504)gGa>gAa	p.G168E						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		AGAAGCAAATCCTCTCTTTTT	0.348000														12			13		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141795408	141795408	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:141795408C>T	uc003vwy.3	+	40	4868	c.4814C>T	c.(4813-4815)tCc>tTc	p.S1605F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1605	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGAATATTTCCAGAACTGTC	0.493000														49			57		0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100499	3100499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:3100499G>A	uc002cth.3	+	3	850	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	MMP25_uc002cti.1_Missense_Mutation_p.G141R	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	205					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S204S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCCCATCTCCGGGGACACTCA	0.562000														23			18		0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167435937	167435937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:167435937C>T	uc003qvj.3	+	7	705	c.620C>T	c.(619-621)tCc>tTc	p.S207F	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Missense_Mutation_p.S160F|FGFR1OP_uc003qvk.3_Missense_Mutation_p.S187F	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	207					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ACAAGTGTCTCCTTGTCAGAA	0.398000			T	FGFR1	"""MPD, NHL"""									23			15		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629608	118629608	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:118629608G>A	uc001ehk.2	-	10	1451	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	461						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGGGTGGGACGAGATCTTCTT	0.522000														97			31		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593428	137593429	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:137593428_137593429CC>TT	uc003lcn.3	-	3	824_825	c.684_685GG>AA	c.(682-687)ggggag>ggAAag	p.E229K	GFRA3_uc003lco.3_Missense_Mutation_p.E198K	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	229					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.G228G(4)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCCGGCGCTCCCCGCAGCCCC	0.708000														23			33		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855779	79855779	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:79855779C>T	uc010jam.3	-	3	410	c.60G>A	c.(58-60)caG>caA	p.Q20Q	ANKRD34B_uc003kgw.3_Silent_p.Q20Q|ANKRD34B_uc010jan.3_Silent_p.Q20Q|ANKRD34B_uc021yax.1_Silent_p.Q20Q	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	20						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GAAGCCGGCTCTGATGGACTG	0.458000														25			16		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57707352	57707352	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:57707352G>A	uc002emh.3	+	1	281	c.178G>A	c.(178-180)Gac>Aac	p.D60N	GPR97_uc010cdc.3_Missense_Mutation_p.D60N|GPR97_uc010vhv.2_5'UTR|GPR97_uc010cdd.3_Non-coding_Transcript	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	60					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTCGGGCAGCGACTCCTGCAA	0.567000														25			16		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037264	129037264	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:129037264G>A	uc003kvb.1	+	19	3120	c.3120G>A	c.(3118-3120)tgG>tgA	p.W1040*	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.	1040	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V1039M(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)		TGACCGTGTGGGAGGCGGGAG	0.567000														27			15		0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563132	22563132	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:22563132C>T	uc002wsm.3	-	1	933	c.748G>A	c.(748-750)Gag>Aag	p.E250K	FOXA2_uc002wsn.3_Missense_Mutation_p.E244K	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	244					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific 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	p.E244*(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CAGCCGTTCTCGAACATGTTG	0.667000														8			15		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224866	42224866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:42224866C>T	uc002orl.3	+	7	1917	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F	CEACAM5_uc002orj.1_Missense_Mutation_p.S598F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547000														55			46		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101818677	101818677	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:101818677C>T	uc004azb.1	+	34	3534	c.3328C>T	c.(3328-3330)Ctg>Ttg	p.L1110L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1110	Nonhelical region 9 (NC9).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCAGCTATCCTGGGAGCAGG	0.622000														1			39		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541014	178541014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:178541014G>A	uc003mjw.3	-	21	3592	c.3490C>T	c.(3490-3492)Ccc>Tcc	p.P1164S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1164					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTTTGTAGGGTTCATCTACG	0.547000														37			36		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:55932118C>T	uc003pcs.3	-	22	2334	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_uc010jzz.3_Missense_Mutation_p.G86E|COL21A1_uc011dxg.2_Intron|COL21A1_uc011dxh.2_Missense_Mutation_p.G86E|COL21A1_uc003pcr.3_Missense_Mutation_p.E59K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	701	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTTGATTTCCTTTGTCCCC	0.299000														15			10		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178943785	178943785	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:178943785C>T	uc003fjk.3	+	16	2609	c.2452C>T	c.(2452-2454)Cgt>Tgt	p.R818C		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	818	PI3K/PI4K.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCAAATTATTCGTATTATGGA	0.353000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				20			7		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804085	71804085	+	Silent	SNP	C	T	T	rs149967896		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:71804085C>T	uc011bge.2	+	0	885	c.885C>T	c.(883-885)ctC>ctT	p.L295L	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	295						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TCTTCCTGCTCCTCTGGGGGC	0.697000														28			8		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35710651	35710651	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:35710651G>A	uc003zxt.2	-	32	4587	c.4233C>T	c.(4231-4233)tcC>tcT	p.S1411S		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1411	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCATTTTGGGAGATGCCAG	0.552000														2			27		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	121985724	121985724	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:121985724C>T	uc022akp.1	-	26	3938	c.3516G>A	c.(3514-3516)atG>atA	p.M1172I	CADPS2_uc003vkg.4_Missense_Mutation_p.M826I|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.M1131I|CADPS2_uc022akr.1_Missense_Mutation_p.M1172I	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1172					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTGCCAGATCCATTCCTGGTT	0.323000														39			37		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767678	105767678	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:105767678T>G	uc004bbs.2	+	4	835	c.765T>G	c.(763-765)gaT>gaG	p.D255E		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	255	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACAAAGGTGATGAATCGAAGG	0.383000														0			17		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203736	56203736	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:56203736C>T	uc002lhj.4	-	4	3897	c.3683G>A	c.(3682-3684)gGa>gAa	p.G1228E	ALPK2_uc002lhk.1_Missense_Mutation_p.G559E	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1228							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCCCAATTTCCAGGTCTATA	0.473000														50			40		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25478179	25478180	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:25478179_25478180GG>AA	uc001upt.4	-	7	2962_2963	c.2709_2710CC>TT	c.(2707-2712)tcccag>tcTTag	p.Q904*	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'UTR	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	904					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCAAAACCTGGGATCGAGCAT	0.371000														34			23		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519023	53519023	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:53519023C>T	uc003pcb.4	-	1	1189	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCTGGCATTTCCGTAAGCTTG	0.473000														30			22		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633803	7633803	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:7633803C>T	uc001qsz.3	-	14	3425	c.3297G>A	c.(3295-3297)atG>atA	p.M1099I	CD163_uc001qta.3_Missense_Mutation_p.M1099I|CD163_uc009zfw.2_Missense_Mutation_p.M1132I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1099					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCAAGAATTCATCTCCCGGT	0.453000														22			17		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407305	105407305	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:105407305G>A	uc010axc.1	-	6	14603	c.14483C>T	c.(14482-14484)tCc>tTc	p.S4828F	AHNAK2_uc021sen.1_Missense_Mutation_p.S225F|AHNAK2_uc021seo.1_5'UTR|AHNAK2_uc001ypx.2_Missense_Mutation_p.S4728F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4828						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGGTCAGTGGAGCACTCTGT	0.527000														10			5		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1540060	1540060	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:1540060C>T	uc002fsz.1	-	9	1626	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	SCARF1_uc002fsy.1_Silent_p.P513P|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.D440N	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	526	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACTCAGGATCGGATGAGAAG	0.612000														57			52		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976883	46976883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:46976883G>A	uc001cpx.3	+	2	640	c.625G>A	c.(625-627)Gac>Aac	p.D209N	DMBX1_uc001cpw.3_Missense_Mutation_p.D204N	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	209					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGCTGAGGACCCCAAAGC	0.662000														14			9		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004462	248004462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:248004462G>A	uc001idn.1	-	0	737	c.737C>T	c.(736-738)gCt>gTt	p.A246V		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTGACAACAGCCAGGTGGGA	0.498000														40			14		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685177	100685178	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:100685177_100685178CC>TT	uc003uxp.1	+	2	10533_10534	c.10480_10481CC>TT	c.(10480-10482)cca>TTa	p.P3494L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3494	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTTCTCCAACCAATTCA	0.490000														250			221		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176267	112176267	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:112176267A>T	uc003kpz.4	+	16	5169	c.4976A>T	c.(4975-4977)gAt>gTt	p.D1659V	APC_uc011cvt.2_Missense_Mutation_p.D1641V|APC_uc003kpy.4_Missense_Mutation_p.D1659V|APC_uc010jbz.3_Missense_Mutation_p.D1376V|APC_uc010jca.3_Missense_Mutation_p.D959V	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1659	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTCTAAGTGATCTAACAATC	0.448000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				22			20		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63143210	63143210	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:63143210G>A	uc001nww.3	+	4	1192	c.924G>A	c.(922-924)atG>atA	p.M308I	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	308					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGTGGAATGAAGAATGCCA	0.468000														2			36		0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646388	19646388	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:19646388C>T	uc002nmt.2	+	5	666	c.594C>T	c.(592-594)ggC>ggT	p.G198G	YJEFN3_uc021uqw.1_Silent_p.G197G|YJEFN3_uc010ecf.2_Silent_p.G148G|YJEFN3_uc002nmu.2_Non-coding_Transcript|CILP2_uc002nmv.4_5'Flank|CILP2_uc002nmw.4_5'Flank	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	198	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						CCGTACTGGGCCCCGGCGTGG	0.697000														12			12		0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873800	88873800	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:88873800A>G	uc002flu.3	+	8	1441	c.1387A>G	c.(1387-1389)Agc>Ggc	p.S463G		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	463					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGTGCTGCGGAGCGTCTTTGT	0.647000														21			17		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108296932	108296932	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:108296932C>T	uc003ymn.3	-	6	1651	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	ANGPT1_uc011lhv.2_Missense_Mutation_p.G195R|ANGPT1_uc003ymo.3_Missense_Mutation_p.G394R|ANGPT1_uc003ymp.4_Missense_Mutation_p.G194R	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	395	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTTTCATTTCCTATGTGGAAT	0.378000														27			23		0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136082624	136082624	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:136082624C>T	uc004ccz.3	-	3	419	c.377G>A	c.(376-378)gGa>gAa	p.G126E	OBP2B_uc010nad.3_Non-coding_Transcript|OBP2B_uc011mcy.2_Missense_Mutation_p.G58E	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	126					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CACAAGCTTTCCCATGTGGAG	0.622000														4			21		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583405	135583405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:135583405G>A	uc003lbn.2	-	6	1820	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L	TRPC7_uc010jef.2_Missense_Mutation_p.P469L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.P84L|TRPC7_uc010jeh.2_Missense_Mutation_p.P472L|TRPC7_uc010jei.2_Missense_Mutation_p.P417L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	533					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGGTCTGAAGGCCACCACTT	0.498000														27			14		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78522585	78522585	+	Silent	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:78522585T>C	uc001syp.3	+	17	4553	c.4380T>C	c.(4378-4380)ccT>ccC	p.P1460P	NAV3_uc001syo.3_Silent_p.P1460P|NAV3_uc010sub.2_Silent_p.P946P|NAV3_uc009zsf.3_Silent_p.P291P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1460	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCAGTCACCTCTGGTTTCCC	0.438000										HNSCC(70;0.22)				33			26		0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529258	13529258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:13529258C>T	uc001rbs.2	-	1	334	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		gaagtgtcttcatcaggaaca	0.473000														11			3		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027438	37027438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:37027438C>T	uc004ddl.2	+	0	1007	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	319								p.R319C(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCATCTCCGCCCAGAGCC	0.607000														1			39		0	0	1	0	0
RAB15	376267	broad.mit.edu	37	14	65417111	65417111	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:65417111T>G	uc021rut.1	-	4	427	c.346A>C	c.(346-348)Aag>Cag	p.K116Q	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_Missense_Mutation_p.R159S|RAB15_uc021rur.1_Non-coding_Transcript|RAB15_uc021rus.1_Non-coding_Transcript			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	116					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.P116P(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		ATAAGGATCTTCTGGACGCCT	0.562000														120			92		0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995786	61995786	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:61995786G>A	uc002jdj.3	-	1	153	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	GH1_uc002jdi.3_Missense_Mutation_p.P31S|GH1_uc002jdk.3_Missense_Mutation_p.P31S|GH1_uc002jdl.3_Missense_Mutation_p.P31S|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Missense_Mutation_p.P31S	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	31					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CTGGATAAGGGAATGGTTGGG	0.597000														86			64		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190423972	190423972	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:190423972G>A	uc001gse.1	-	1	281	c.49C>T	c.(49-51)Cta>Tta	p.L17L	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	17						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CACTCCCATAGAGCCATCAGA	0.512000														38			7		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625451	19625451	+	RNA	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:19625451C>T	uc001umb.1	-	7		c.3072G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		ACAGTTTCTTCATGGTGTCAG	0.552000														0			9		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275301	71275301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:71275301C>T	uc003hfi.3	+	2	430	c.256C>T	c.(256-258)Caa>Taa	p.Q86*		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	86	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATTCTATCTCAACTCTTTCC	0.423000														84			74		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45724608	45724608	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:45724608C>T	uc003tne.4	+	11	2032	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	672					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GATTCAGATTCGCACTGTCCT	0.453000														117			104		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39851789	39851789	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:39851789C>T	uc003oow.3	+	14	2036	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	DAAM2_uc003oox.3_Missense_Mutation_p.R633W|AX747174_uc003ooz.1_Non-coding_Transcript	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	633	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCAGGTATTTCGGATCCTGGA	0.493000														8			8		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398358	23398358	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:23398358C>T	uc004dal.4	+	1	1010	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	PTCHD1_uc010nfu.2_Silent_p.F334F	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	334	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GAGTCCCTTTCGTCATGCTAG	0.483000														3			29		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43412939	43412939	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:43412939G>A	uc021wjo.1	-	0	1266	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	ZNF295_uc002yzz.4_Silent_p.S422S|ZNF295_uc002zab.4_Silent_p.S422S|ZNF295_uc002yzy.4_Silent_p.S422S|ZNF295_uc002zaa.4_Silent_p.S422S|ZNF295_uc010gov.1_Silent_p.S422S|ZNF295_uc002zac.2_Silent_p.S422S	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	422					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CAGTCACAGGGGAAGCTCCCT	0.572000														18			14		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38997496	38997496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:38997496C>T	uc002oit.3	+	56	8850	c.8720C>T	c.(8719-8721)cCc>cTc	p.P2907L	RYR1_uc002oiu.3_Missense_Mutation_p.P2907L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2907	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCTGGTCCCCTACGACACG	0.607000														22			12		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138333805	138333805	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:138333805G>A	uc011kqh.2	-	6	612	c.612C>T	c.(610-612)ctC>ctT	p.L204L	SVOPL_uc003vue.3_Silent_p.L52L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	204						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CGACGCGAATGAGCCAGCGCC	0.607000														37			30		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400549	83400549	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:83400549C>T	uc004eej.2	-	5	474	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RPS6KA6_uc011mqt.2_Silent_p.G146G|RPS6KA6_uc011mqu.2_Silent_p.G43G|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	146	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTACAGTTTCCCTTCAGTCT	0.289000														1			6		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154176065	154176065	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:154176065C>T	uc004fmt.3	-	12	2192	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	674	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GAAGGTATATCCAGAGAAGAA	0.413000														2			31		0	0	1	0	0
FAM22D	728130	broad.mit.edu	37	10	89127097	89127098	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:89127097_89127098CC>TT	uc009xte.1	+	6	2188_2189	c.1642_1643CC>TT	c.(1642-1644)cct>TTt	p.P548F		NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	Homo sapiens family with sequence similarity 22, member D (FAM22D), mRNA.	783										large_intestine(2)|lung(2)	4						GTAGGGAGCCCCTTCAGATGCT	0.634000														12			9		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46292272	46292272	+	Missense_Mutation	SNP	C	T	T	rs141576642	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:46292272C>T	uc002xto.3	-	15	2482	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	SULF2_uc002xtr.3_Missense_Mutation_p.D718N|SULF2_uc002xtq.3_Missense_Mutation_p.D718N|SULF2_uc010zyd.2_5'UTR	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	718					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTGCACGTGTCGTTGTTCTGC	0.612000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			83		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758782	54758782	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54758782C>T	uc010yer.1	-	5	1155	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.K357K|LILRB5_uc002qez.3_Silent_p.K257K|LILRB5_uc002qex.3_Silent_p.K357K|LILRB5_uc002qfa.1_Silent_p.K247K|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.	357	Ig-like C2-type 4.				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)		CTGCCCCCTCCTTGGTCAAAA	0.572000														22			17		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71357892	71357892	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:71357892G>A	uc010dfm.3	-	38	5398	c.5398C>T	c.(5398-5400)Cgc>Tgc	p.R1800C	SDK2_uc002jjt.4_Missense_Mutation_p.R940C|SDK2_uc010dfn.2_Missense_Mutation_p.R1479C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1800	Fibronectin type-III 12.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTCTGATGCGGAACCTGTAG	0.627000														12			13		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995902	140995902	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:140995902C>T	uc004fbt.3	+	3	3036	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.F563F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	904							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCTTGTTCACTTATACAC	0.478000										HNSCC(15;0.026)				6			61		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165182996	165182996	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:165182996C>T	uc001gcz.2	-	4	745	c.551G>A	c.(550-552)gGa>gAa	p.G184E	LMX1A_uc021pdz.1_Missense_Mutation_p.G184E|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	184						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTCAGCAGTTCCTTTCCCTGC	0.488000														159			68		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860722	45860722	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:45860722C>T	uc010gpt.1	+	31	4570	c.4470C>T	c.(4468-4470)atC>atT	p.I1490I	TRPM2_uc002zet.1_Silent_p.I1440I|TRPM2_uc002zeu.1_Silent_p.I1440I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I1440I|TRPM2_uc002zex.1_Silent_p.I1226I|TRPM2_uc002zey.1_Silent_p.I919I|TRPM2_uc011aff.1_Silent_p.I121I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1440	Nudix hydrolase.					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						ATGCCTGGATCGAGACGGTGG	0.617000														50			26		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603275	111603275	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:111603275C>T	uc010hqa.3	+	1	762	c.351C>T	c.(349-351)tcC>tcT	p.S117S	PHLDB2_uc003dyc.3_Silent_p.S144S|PHLDB2_uc003dyd.3_Silent_p.S117S|PHLDB2_uc003dyg.3_Silent_p.S117S|PHLDB2_uc003dyh.3_Silent_p.S117S|PHLDB2_uc003dye.4_Silent_p.S117S|PHLDB2_uc003dyf.4_Silent_p.S117S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	117						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTACATCCTCCCTCAGTGGAT	0.453000														146			94		0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55253054	55253054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:55253054C>T	uc003jqq.3	-	8	1352	c.1039G>A	c.(1039-1041)Gta>Ata	p.V347I	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.V58I|IL6ST_uc003jqr.3_Intron|IL6ST_uc010iwb.3_Missense_Mutation_p.V347I	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	347	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ACGAGTTGTACAGTTCTGTAG	0.338000			O		hepatocellular ca									44			29		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34008362	34008362	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:34008362A>G	uc001bxm.1	-	57	9412	c.9235T>C	c.(9235-9237)Tcg>Ccg	p.S3079P	CSMD2_uc001bxn.1_Missense_Mutation_p.S2935P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3053	Sushi 24.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATTGACCGAGCAGTGACGG	0.592000														14			12		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57185697	57185697	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:57185697G>A	uc001cym.4	-	18	2569	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	721										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAGCTTACTTGAAATCTAGAT	0.274000														20			4		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:150499314C>T	uc003whx.1	+	2	264	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000														75			50		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956418	128956418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:128956418G>A	uc003kvb.1	+	8	1568	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	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.	523	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R523Q(2)		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)		TCATGGTCTCGATGTAGCAAG	0.388000														76			58		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52536092	52536092	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:52536092G>A	uc003dej.3	+	3	476	c.402G>A	c.(400-402)ggG>ggA	p.G134G	STAB1_uc003dei.1_Silent_p.G134G	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	134	EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGAATGGGACCTGTGTGT	0.627000														23			14		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481597	140481597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140481597C>T	uc003lio.3	+	0	1364	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	455					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)			ACCCAAATCTCCTACACCCTG	0.582000														77			51		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799137	209799137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:209799137G>A	uc001hhg.3	-	12	2222	c.1832C>T	c.(1831-1833)tCa>tTa	p.S611L	LAMB3_uc009xco.3_Missense_Mutation_p.S611L|LAMB3_uc001hhh.3_Missense_Mutation_p.S611L|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	611	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCCAGGCCCTGACCACAGGCT	0.632000														50			26		0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50617356	50617356	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:50617356C>T	uc003dau.3	+	8	1148	c.852C>T	c.(850-852)ctC>ctT	p.L284L	HEMK1_uc003dav.3_Silent_p.L284L	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA.	284					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CACCCCGGCTCCTGAAAGACT	0.597000														22			19		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124034607	124034607	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:124034607C>T	uc001lgc.1	+	1	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_uc001lgd.1_Missense_Mutation_p.S2L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	4										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ATGATAATGTCGAACACGGTG	0.393000														34			31		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709727	52709727	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:52709727C>T	uc001saf.2	-	6	1275	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	404	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCGATATCCAGGCCTAGCT	0.622000														52			26		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373091	86373091	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:86373091C>T	uc010sum.2	-	5	1644	c.1485G>A	c.(1483-1485)agG>agA	p.R495R	MGAT4C_uc001tal.4_Silent_p.R471R|MGAT4C_uc001taj.4_Silent_p.R471R|MGAT4C_uc001tak.4_Silent_p.R471R|MGAT4C_uc001tai.4_Silent_p.R471R|MGAT4C_uc001tah.4_Silent_p.R471R	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	471					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTAATACTCCTAATAATTA	0.343000														18			6		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123983539	123983539	+	Splice_Site	SNP	T	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:123983539T>G	uc003ehg.3	+	4	577	c.450_splice	c.e4+2	p.E150_splice	KALRN_uc010hrv.1_Splice_Site_p.E150_splice|KALRN_uc003ehf.1_Splice_Site_p.E150_splice|KALRN_uc011bjy.1_Splice_Site_p.E150_splice	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	150	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCTTTGAGGTGAGCCAGATT	0.468000														14			15		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201434611	201434611	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:201434611C>T	uc002uvw.2	+	5	812	c.699C>T	c.(697-699)ccC>ccT	p.P233P	SGOL2_uc002uvv.4_Silent_p.P233P|SGOL2_uc010zhd.1_Silent_p.P233P|SGOL2_uc010zhe.1_Silent_p.P233P	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	233					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATGTACCTCCCAGAGGTGAGA	0.289000														18			17		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73759368	73759368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:73759368G>A	uc001ouu.2	-	27	5604	c.5377C>T	c.(5377-5379)Ccc>Tcc	p.P1793S	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1793						centrosome		p.P1793L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAGGAAAAGGGACTGTATATT	0.418000														2			18		0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74963125	74963125	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:74963125C>T	uc002lms.4	+	0	1118	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	207					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTTCGTCTTCGGCTACCTGC	0.692000														61			48		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255502	140255502	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140255502G>A	uc003lic.2	+	0	572	c.445G>A	c.(445-447)Gac>Aac	p.D149N	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.D149N	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	164	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)			TGCGCCTCTGGACTCTCATTT	0.458000														32			32		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54212290	54212290	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:54212290G>A	uc003pcj.2	+	5	1020	c.874G>A	c.(874-876)Gct>Act	p.A292T	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	292					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CATCGATAGGGCTTGGTGGTA	0.433000														19			11		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909394	123909394	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:123909394G>A	uc001pzq.1	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGCTCCCCAGGAAGTGGAAAA	0.547000														35			91		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391098	31391098	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:31391098G>A	uc002ebt.3	+	24	2956	c.2889G>A	c.(2887-2889)agG>agA	p.R963R	ITGAX_uc002ebu.1_Silent_p.R963R	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	963					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGGGACAGAGGGACCTGCCTG	0.627000														14			6		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735440	40735440	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:40735440G>A	uc002xkg.3	-	23	3560	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L	PTPRT_uc010ggj.3_Silent_p.L1145L|PTPRT_uc010ggi.3_Silent_p.L329L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1126	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCTGTACCAGGTTGACCCTT	0.542000														95			27		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876260	35876260	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:35876260C>T	uc003jjs.3	+	7	1141	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	351					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AACTGCCCATCTGAGGATGTA	0.502000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							15			17		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633363	70633363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:70633363C>T	uc001xly.3	-	1	2531	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E593K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E593K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E593K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	593	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TACACAGTTTCATCATTCTTG	0.468000														22			10		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932432	83932432	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:83932432G>A	uc002bjt.1	-	3	1659	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	BNC1_uc010uos.1_Missense_Mutation_p.S512L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	524					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CATTTCGTTTGAAATGAGCTG	0.483000														33			22		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66902208	66902208	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:66902208C>T	uc002jhq.3	-	18	2715	c.2375G>A	c.(2374-2376)gGa>gAa	p.G792E	ABCA8_uc002jhp.3_Missense_Mutation_p.G752E|ABCA8_uc010wqq.2_Missense_Mutation_p.G792E|ABCA8_uc010wqr.2_Missense_Mutation_p.G731E|ABCA8_uc002jhr.3_Missense_Mutation_p.G792E	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	752						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)					TGTAGATTTTCCTTCTAGCTT	0.313000														31			21		0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151908847	151908847	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:151908847G>A	uc004fge.3	+	3	414	c.86G>A	c.(85-87)aGa>aAa	p.R29K	CSAG1_uc004fgf.3_Missense_Mutation_p.R29K|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	29										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGACTGTACAGAGACACTGGT	0.532000														4			77		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609762	32609762	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:32609762C>T	uc003obr.3	+	2	398	c.345C>T	c.(343-345)gtC>gtT	p.V115V	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Silent_p.V115V|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	114	Alpha-1.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTCCTGAGGTCACAGTGTTTT	0.512000														17			25		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				58			146		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52561986	52561986	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:52561986C>T	uc010bff.3	-	7	1066	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	302	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTACCATTTCAGCTCGATCA	0.358000														6			46		0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27679898	27679898	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:27679898C>T	uc001mrv.3	-	1	572	c.214G>A	c.(214-216)Gat>Aat	p.D72N	BDNF-AS_uc009yip.3_Non-coding_Transcript|BDNF-AS_uc001mrn.3_Non-coding_Transcript|BDNF-AS_uc001mro.3_Non-coding_Transcript|BDNF-AS_uc001mrm.3_Non-coding_Transcript|BDNF-AS_uc009yiq.3_Non-coding_Transcript|BDNF-AS_uc001mrp.3_Non-coding_Transcript|BDNF-AS_uc009yij.3_Non-coding_Transcript|BDNF-AS_uc009yik.3_Non-coding_Transcript|BDNF-AS_uc009yil.3_Non-coding_Transcript|BDNF-AS_uc009yin.3_Non-coding_Transcript|BDNF-AS_uc009yio.3_Non-coding_Transcript|BDNF-AS_uc009yim.3_Non-coding_Transcript|BDNF-AS_uc009yir.3_Non-coding_Transcript|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Non-coding_Transcript|BDNF-AS_uc009yix.3_Non-coding_Transcript|BDNF-AS_uc009yiy.3_Non-coding_Transcript|BDNF-AS_uc001mrq.4_Non-coding_Transcript|BDNF-AS_uc009yiw.3_Non-coding_Transcript|BDNF-AS_uc009yiz.3_Non-coding_Transcript|BDNF-AS_uc001mrr.4_Non-coding_Transcript|BDNF-AS_uc009yit.3_Non-coding_Transcript|BDNF-AS_uc009yiv.3_Non-coding_Transcript|BDNF-AS_uc009yja.3_Non-coding_Transcript|BDNF-AS_uc009yjb.3_Non-coding_Transcript|BDNF_uc021qff.1_Missense_Mutation_p.D72N|BDNF_uc010rdu.2_Missense_Mutation_p.D72N|BDNF_uc001mrt.3_Missense_Mutation_p.D87N|BDNF_uc010rdw.2_Missense_Mutation_p.D72N|BDNF_uc009yjd.3_Missense_Mutation_p.D72N|BDNF_uc001mru.3_Missense_Mutation_p.D72N|BDNF_uc010rdx.2_Missense_Mutation_p.D72N|BDNF_uc009yjf.3_Missense_Mutation_p.D101N|BDNF_uc010rdy.2_Missense_Mutation_p.D72N|BDNF_uc009yjg.3_Missense_Mutation_p.D72N|BDNF_uc009yje.3_Missense_Mutation_p.D154N|BDNF_uc001mrw.4_Missense_Mutation_p.D72N|BDNF_uc001mry.4_Missense_Mutation_p.D72N|BDNF_uc001mrz.4_Missense_Mutation_p.D72N|BDNF_uc001mrx.3_Missense_Mutation_p.D72N|BDNF_uc001msa.3_Missense_Mutation_p.D80N	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	72						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TGGTCCTCATCCAACAGCTCT	0.517000														10			83		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536375	74536375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:74536375C>T	uc002axo.3	+	1	465	c.71C>T	c.(70-72)cCt>cTt	p.P24L		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	227							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCACGGAACCTGAGATCGGT	0.567000														46			39		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350952	101350952	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:101350952G>A	uc010txj.1	-	0	233	c.174C>T	c.(172-174)ccC>ccT	p.P58P	MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	58										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGCCACTGGGGGGCTCCTTCT	0.632000														19			12		0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955267	57955268	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:57955267_57955268CC>TT	uc002qoq.2	+	2	1005_1006	c.751_752CC>TT	c.(751-753)cct>TTt	p.P251F		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGGAGAAAGGCCTTATGAGGGC	0.406000														29			18		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811305	7811305	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:7811305G>A	uc001aoi.3	+	19	4943	c.4736G>A	c.(4735-4737)aGc>aAc	p.S1579N	CAMTA1_uc001aok.4_Missense_Mutation_p.S622N|CAMTA1_uc001aoj.3_Missense_Mutation_p.S542N|CAMTA1_uc009vmf.3_Missense_Mutation_p.S169N	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1579	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTTATCCAGAGCAAATTCCGA	0.458000			T	WWTR1	epitheliod hemangioendothelioma									142			92		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73493206	73493206	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:73493206C>T	uc010wsa.2	+	24	3556	c.3364C>T	c.(3364-3366)Ctg>Ttg	p.L1122L	KIAA0195_uc002jnz.4_Silent_p.L1112L|KIAA0195_uc010wsb.2_Silent_p.L752L|KIAA0195_uc002job.4_Silent_p.L120L	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1112					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTTCTTGCCTGGTCCAGCT	0.562000														33			16		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135372833	135372833	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:135372833C>T	uc001lno.2	-	2	273	c.168G>A	c.(166-168)ctG>ctA	p.L56L	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Silent_p.L56L|SYCE1_uc001lnn.2_Silent_p.L20L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	56					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCCGGTTAATCAGGACCTCAA	0.582000														26			24		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69028022	69028022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:69028022G>A	uc003xxv.1	+	25	3208	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1061					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCCTAAATTAGAACGTAAGAC	0.338000														16			16		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621442	65621443	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:65621442_65621443GG>AT	uc002aos.2	-	13	2501_2502	c.2249_2250CC>AT	c.(2248-2250)tcc>tAT	p.S750Y	IGDCC3_uc002aor.1_Missense_Mutation_p.S36Y	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	750										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGGCAGCACGGAGAGCTGGGT	0.703000														2			5		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201436	187201436	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:187201436G>T	uc003iza.1	+	8	1258	c.925G>T	c.(925-927)Gtt>Ttt	p.V309F		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	309	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ACTGGATATTGTTGCTGCAAA	0.498000														109			5		1	1	1	1	0
ERGIC3	51614	broad.mit.edu	37	20	34135216	34135216	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:34135216C>T	uc002xcs.3	+	4	490	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	ERGIC3_uc002xcr.1_Missense_Mutation_p.R141C|ERGIC3_uc010zvg.2_Missense_Mutation_p.R141C|ERGIC3_uc002xct.3_Missense_Mutation_p.R141C	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	141					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGACCCTGATCGCTGTGAGAG	0.597000														22			25		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530438	54530438	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:54530438T>C	uc001jjt.3	-	1	361	c.296A>G	c.(295-297)aAa>aGa	p.K99R		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	99	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						ACCCGGACTTTTTCCAGGGTC	0.567000														59			38		0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95167013	95167013	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:95167013C>T	uc011kij.2	+	4	1294	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	408	SOCS box.				intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTTTGCTTTCCCTCCCATTG	0.408000														47			48		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15870016	15870016	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:15870016G>C	uc002ddx.3	-	8	936	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	MYH11_uc002ddv.3_Missense_Mutation_p.R277G|MYH11_uc002ddw.3_Missense_Mutation_p.R270G|MYH11_uc002ddy.3_Missense_Mutation_p.R270G|MYH11_uc010bvg.3_Missense_Mutation_p.R102G|MYH11_uc002dea.1_5'UTR	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	270	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGAATTGCCCGTGATTTTTCT	0.493000			T	CBFB	AML									60			44		0	0	1	0	0
CRCT1	54544	broad.mit.edu	37	1	152487912	152487912	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152487912C>T	uc021oyy.1	+	0	53	c.53C>T	c.(52-54)tCc>tTc	p.S18F	CRCT1_uc001ezz.3_Missense_Mutation_p.S18F	NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	Homo sapiens cysteine-rich C-terminal 1 (CRCT1), mRNA.	18										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGGGGTCGTCCCAGGGcccc	0.692000														16			19		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329259	75329260	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:75329259_75329260CC>TT	uc021rwo.1	-	0	1278_1279	c.1278_1279GG>AA	c.(1276-1281)atggag>atAAag	p.426_427ME>IK	PROX2_uc001xqp.2_Missense_Mutation_p.426_427ME>IK|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	426					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGCAGTGCCTCCATGACAGCAT	0.515000														30			29		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28276336	28276336	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:28276336C>T	uc009xky.3	-	2	459	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ARMC4_uc001itz.3_Missense_Mutation_p.E121K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	121							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTTGGGCTTCCTTCAACTTC	0.438000														15			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764517	140764517	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140764517C>T	uc003lka.2	+	0	2051	c.2051C>T	c.(2050-2052)cCt>cTt	p.P684L	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_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Missense_Mutation_p.P684L	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	685					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)			TCCGACGGTCCTTACAACTAT	0.632000														26			25		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169194505	169194505	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:169194505C>T	uc003irp.3	-	17	2791	c.2499G>A	c.(2497-2499)acG>acA	p.T833T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	833	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GCAGATTTTTCGTAAAACGAT	0.383000														20			10		0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582444	180582444	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:180582444C>T	uc011dhj.2	+	0	502	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGAATTTCCCCTACTGTGG	0.473000														87			47		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43559041	43559041	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:43559041G>T	uc001zrd.2	-	0	15	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K	TGM5_uc001zre.2_Missense_Mutation_p.Q3K	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	3					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		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;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCCCTACCTTGGGCCATGGTA	0.562000														3			18		4.54149e-19	4.60179e-19	1	1	0
EYA4	2070	broad.mit.edu	37	6	133767818	133767818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:133767818G>A	uc011ecs.2	+	3	450	c.134G>A	c.(133-135)gGt>gAt	p.G45D	EYA4_uc011ecq.2_Missense_Mutation_p.G45D|EYA4_uc011ecr.2_Missense_Mutation_p.G45D|EYA4_uc003qec.4_Missense_Mutation_p.G45D|EYA4_uc003qed.4_Missense_Mutation_p.G45D|EYA4_uc003qee.4_Missense_Mutation_p.G45D|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	45					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTTGGAGGTGGTGATACTCCA	0.443000														18			26		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19440498	19440498	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:19440498G>A	uc001bbi.3	-	75	11273	c.11269C>T	c.(11269-11271)Cgg>Tgg	p.R3757W	UBR4_uc001bbj.1_Missense_Mutation_p.R172W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3757					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCTGTGGCCGGTGTCCCATC	0.512000											OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			26		0	0	1	0	0
C10orf96	374355	broad.mit.edu	37	10	118137945	118137945	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:118137945G>A	uc001lck.3	+	7	915	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	222								p.E222K(2)		kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		ACTTAAAAAAGAATTAGAACT	0.279000														17			11		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724548	113724548	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:113724548G>A	uc003eax.3	-	9	1822	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Nonsense_Mutation_p.Q537*|KIAA1407_uc011bip.1_Nonsense_Mutation_p.Q546*	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	559										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGCTGTTGCTGGAAGACATGG	0.502000														40			34		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756350	94756350	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:94756350T>A	uc001yct.3	-	1	1047	c.581A>T	c.(580-582)aAt>aTt	p.N194I	SERPINA10_uc001ycu.4_Missense_Mutation_p.N194I	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.	194					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)		ATTGCGAAAATTCATAGGCAC	0.398000														26			16		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10025188	10025188	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:10025188C>T	uc002wno.3	+	4	1086	c.693C>T	c.(691-693)ttC>ttT	p.F231F	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.F231F|ANKRD5_uc010gbz.3_Silent_p.F42F	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	231							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GAGGCTTTTTCGATGTAATAA	0.358000														40			52		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992767	42992767	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:42992767G>A	uc021tyh.1	-	0	154	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	GFAP_uc002ihq.3_Missense_Mutation_p.R30C|GFAP_uc002ihr.3_Missense_Mutation_p.R30C|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	30	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GGACCCAGACGGCGGCCAGGA	0.672000														11			8		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609012	47609012	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:47609012G>A	uc001cqv.1	+	4	633	c.582G>A	c.(580-582)ctG>ctA	p.L194L	CYP4A22_uc009vyo.3_Silent_p.L194L|CYP4A22_uc009vyp.3_Silent_p.L194L	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	194						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATGACCCTGGACACCATCA	0.567000														24			22		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21327630	21327630	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:21327630G>A	uc011ahx.1	+	2	351	c.140G>A	c.(139-141)aGg>aAg	p.R47K	LZTR1_uc002ztk.2_Silent_p.K22K|LZTR1_uc002ztj.2_Silent_p.K22K|LZTR1_uc002ztl.2_Silent_p.K28K			Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), transcript variant 4, non-coding RNA.	474					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCCTGAGAAGGAGCGAGGCA	0.672000														10			5		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301901	120301901	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:120301901C>T	uc001eid.3	-	3	778	c.690G>A	c.(688-690)ctG>ctA	p.L230L	HMGCS2_uc010oxj.2_Silent_p.L188L|HMGCS2_uc021osw.1_5'UTR|HMGCS2_uc021osx.1_Intron	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	230					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.G229W(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGTTCCCCTCAGCCCTGGAA	0.458000														19			26		0	0	1	0	0
LOC644936	644936	broad.mit.edu	37	5	79595593	79595593	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:79595593G>A	uc010jai.3	-	0	705	c.564C>T	c.(562-564)tcC>tcT	p.S188S						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		AGGCCAGGATGGAGCCTCTGA	0.562000														25			16		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54646866	54646866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54646866C>T	uc002qdj.2	+	2	361	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	CNOT3_uc010yel.2_Missense_Mutation_p.R13C|CNOT3_uc002qdi.3_5'UTR|CNOT3_uc002qdk.2_Missense_Mutation_p.R13C|CNOT3_uc010ere.2_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	13					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.R13R(1)|p.D12H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGATTGATCGCTGCCTCAA	0.537000														89			64		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371051	33371051	+	Missense_Mutation	SNP	C	T	T	rs141493785	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:33371051C>T	uc002yph.3	+	10	2059	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	567					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCTGTGGATCGCGACGACCA	0.602000														18			8		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32740386	32740386	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:32740386G>A	uc001bux.3	+	2	292	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	LCK_uc001buy.3_Missense_Mutation_p.E52K|LCK_uc001buz.3_Missense_Mutation_p.E52K|LCK_uc010ohc.1_Missense_Mutation_p.E96K|LCK_uc001bva.3_Missense_Mutation_p.E52K	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	52	Interactions with CD4 and CD8 (By similarity).				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGTTACCTACGAAGGCTCCAA	0.612000			T	TRB@	T-ALL									26			14		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143482	103143482	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:103143482G>A	uc022ajr.1	-	51	8630	c.8470C>T	c.(8470-8472)Cct>Tct	p.P2824S	RELN_uc022ajq.1_Missense_Mutation_p.P2824S|RELN_uc010liz.3_Missense_Mutation_p.P2824S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2824					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGCTTTCAGGAAGTGGGTAG	0.448000														28			14		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9318684	9318684	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:9318684C>T	uc021wam.1	+	2	210	c.195C>T	c.(193-195)atC>atT	p.I65I	PLCB4_uc010gbw.1_Silent_p.I65I|PLCB4_uc010gbx.3_Silent_p.I65I|PLCB4_uc021wal.1_Silent_p.I65I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	65					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTCCCTCATCAACAGTATTC	0.423000														27			14		0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435592	104435592	+	RNA	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:104435592G>A	uc003kok.3	+	0		c.418G>A								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		GCCCAAGCCTGGTGCAGGGAC	0.443000														14			11		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422315	115422315	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:115422315C>T	uc011lwx.1	+	4	2376	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	KIAA1958_uc004bgf.1_Missense_Mutation_p.S706F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	706										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ACTCAGGTCTCCCGGAGGCTT	0.612000														2			45		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120386063	120386063	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:120386063G>A	uc003vjj.1	+	4	2662	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	566					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGTGTGGAGAGAACACCTCTG	0.443000														26			22		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34806815	34806815	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:34806815C>T	uc010gfq.3	+	7	2943	c.2580C>T	c.(2578-2580)tcC>tcT	p.S860S	EPB41L1_uc002xeu.3_Silent_p.S660S|EPB41L1_uc010zvo.1_Silent_p.S734S|EPB41L1_uc002xev.3_Silent_p.S761S|EPB41L1_uc002xew.3_Silent_p.S653S|EPB41L1_uc002xex.3_Silent_p.S582S|EPB41L1_uc002xey.3_Silent_p.S512S|EPB41L1_uc002xez.3_Silent_p.S660S|EPB41L1_uc002xfb.3_Silent_p.S762S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	762	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GTCTCAAGTCCGGGAAGGGGG	0.617000														37			11		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55883554	55883554	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:55883554C>T	uc021tir.1	-	11	1638	c.1492G>A	c.(1492-1494)Ggg>Agg	p.G498R	CES5A_uc002eip.2_Missense_Mutation_p.G469R|CES5A_uc002eio.2_Intron|CES5A_uc002eiq.2_Missense_Mutation_p.G230R|CES5A_uc002eir.2_Missense_Mutation_p.G363R	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	469						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAATGTCCCCCTTCAGGAAG	0.567000														67			40		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69948661	69948661	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:69948661G>A	uc001jnm.4	+	14	2889	c.2704_splice	c.e14-1	p.E902_splice	MYPN_uc001jnn.4_Splice_Site_p.E627_splice|MYPN_uc001jno.4_Splice_Site_p.E902_splice|MYPN_uc009xpt.3_Splice_Site_p.E902_splice|MYPN_uc010qit.2_Splice_Site_p.E608_splice|MYPN_uc010qiu.2_Splice_Site	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	902						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CATTTTGACAGGAGTACAAAA	0.373000														10			10		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635399	42635399	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:42635399G>A	uc010ggo.3	+	2	418	c.378G>A	c.(376-378)caG>caA	p.Q126Q	TOX2_uc002xle.4_Silent_p.Q84Q|TOX2_uc010ggp.3_Silent_p.Q84Q|TOX2_uc002xlf.4_Silent_p.Q135Q|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCTAGCACAGGACAGCCACC	0.627000														33			16		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851397	43851397	+	Missense_Mutation	SNP	C	T	T	rs146527428		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:43851397C>T	uc010ggz.3	+	1	1181	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	SEMG2_uc002xnk.3_Missense_Mutation_p.S375L|SEMG2_uc002xnl.3_Missense_Mutation_p.S375L	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	375	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGCAGTATTTCGATCCAAACT	0.368000														48			16		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72423453	72423453	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:72423453C>T	uc010iic.3	+	21	2905	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	SLC4A4_uc003hfy.3_Silent_p.L930L|SLC4A4_uc010iib.3_Silent_p.L846L|SLC4A4_uc003hfz.3_Silent_p.L930L|SLC4A4_uc003hgc.4_Silent_p.L886L|SLC4A4_uc010iid.3_Silent_p.L134L	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	930						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAAGCTGCTTCTGATGCCTCT	0.493000														19			9		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4005636	4005636	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:4005636G>A	uc002fxe.3	-	8	1711	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	ZZEF1_uc002fxk.1_Silent_p.L549L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	549							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTCAACAAGGAGGTTTTCGG	0.483000														38			35		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191897741	191897741	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:191897741G>A	uc002usm.2	-	20	2302	c.1987C>T	c.(1987-1989)Cct>Tct	p.P663S	STAT4_uc002usn.2_Missense_Mutation_p.P663S|STAT4_uc010zgk.1_Missense_Mutation_p.P508S|STAT4_uc002uso.2_Missense_Mutation_p.P663S	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	663	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGAATGTCAGGATATAGGTAC	0.413000														34			24		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106714581	106714581	+	RNA	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:106714581G>A	uc021ser.1	-	1006		c.23275C>T								Parts of antibodies, mostly variable regions.																		AACTGAAGGTGAATCCAGAGG	0.572000														24			36		0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100013501	100013501	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:100013501C>T	uc001kpa.1	-	10	1795	c.1644G>A	c.(1642-1644)ttG>ttA	p.L548L		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	548	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCGGTCCTCCAAGTAGGCCG	0.627000														17			16		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60587958	60587958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:60587958C>T	uc001xer.4	+	6	1807	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	C14orf135_uc001xeq.2_Missense_Mutation_p.R429C|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	663						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TTTTCAGGATCGTTTAATGTG	0.313000														36			31		0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44177177	44177177	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:44177177G>A	uc003gwu.3	-	1	1336	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	351						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTCATTACAGGAAGTCCCACT	0.468000										HNSCC(17;0.042)				16			21		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5960966	5960966	+	RNA	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:5960966C>T	uc003git.2	-	6		c.2265G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AACACAAAATCCCAAAGCCGA	0.438000														6			6		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266586	107266586	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:107266586C>T	uc011lvm.2	+	0	43	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	15					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						ATTTTTCTTCCTGGGATTTTT	0.388000														10			35		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609331	32609331	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:32609331C>T	uc003obr.3	+	1	380	c.327C>T	c.(325-327)acC>acT	p.T109T	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Silent_p.T109T|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	108	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CCGCTGCTACCAATGGTATGC	0.453000														1			28		0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368264	27368264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:27368264G>A	uc003njf.1	+	2	633	c.115G>A	c.(115-117)Gag>Aag	p.E39K	ZNF391_uc021ypw.1_Missense_Mutation_p.E39K	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATCCTCTTTTGAGAACACAGT	0.418000														28			21		0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225634	9225634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9225634C>T	uc021uoi.1	-	0	806	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	OR7G1_uc002mks.1_Missense_Mutation_p.R269Q	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGCAGTAATTCGGGAAGACTC	0.458000														32			20		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5685010	5685010	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:5685010G>A	uc001qnm.2	-	23	2683	c.2611C>T	c.(2611-2613)Cag>Tag	p.Q871*		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	876						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.E870K(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGCAGAACTGAACCTCCTGG	0.502000														15			13		0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56604277	56604277	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:56604277G>A	uc010wnx.2	-	2	313	c.168C>T	c.(166-168)ttC>ttT	p.F56F	SEPT4_uc002iwk.2_5'UTR|SEPT4_uc010wnw.2_5'UTR|SEPT4_uc002iwl.2_5'UTR|SEPT4_uc002iwm.2_Silent_p.F41F|SEPT4_uc002iwo.2_Silent_p.F22F|SEPT4_uc002iwp.2_Silent_p.F22F|SEPT4_uc010wny.2_Silent_p.F33F|SEPT4_uc010dcy.2_Intron	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	41					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTTCCTGAGAAATCCTTCA	0.592000														52			38		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25182349	25182349	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:25182349A>G	uc003sxn.1	-	7	1330	c.769T>C	c.(769-771)Tgg>Cgg	p.W257R		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	257										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATAGGGTCCCATGAATTTAAA	0.398000														58			53		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179545869	179545869	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179545869C>T	uc021vsy.1	-	134	29770	c.29545G>A	c.(29545-29547)Gaa>Aaa	p.E9849K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6510K|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10776	Ig-like 79.						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)			CGTATTTTTTCCTCAAAAACT	0.318000														10			11		0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98249158	98249158	+	Silent	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:98249158C>T	uc003upl.2	+	1	807	c.630C>T	c.(628-630)acC>acT	p.T210T		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	210					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGGGTCACCGAGCTGGAGC	0.592000														24			22		0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38167344	38167344	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38167344G>A	uc003cht.3	-	9	1233	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	ACAA1_uc003chu.3_Silent_p.F249F	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	342					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	p.F342F(2)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATTGATCTCGAAGATGTCCA	0.602000														63			42		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729620	13729620	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13729620C>T	uc003jfd.2	-	68	11853	c.11811G>A	c.(11809-11811)tgG>tgA	p.W3937*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.W105*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3937					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W3937*(3)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTCCAGGATCCATTTTGATG	0.368000									Kartagener syndrome					19			19		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068422	103068422	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:103068422G>A	uc002tbx.3	+	11	2065	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	IL18RAP_uc010fiz.3_Silent_p.V385V	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	527	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTCATCTCGTGAAAAAAGCTC	0.438000														38			39		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139186271	139186271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:139186271C>T	uc003qif.2	+	11	1755	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L	ECT2L_uc021zfx.1_Missense_Mutation_p.P477L|ECT2L_uc011edq.1_Missense_Mutation_p.P408L	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	477					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCTGTATCCTTTCTTCAAG	0.448000			"""N, Splice, Mis"""		ETP ALL									23			22		0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134734	203134734	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:203134734G>A	uc010pqh.1	+	2	823	c.786G>A	c.(784-786)gaG>gaA	p.E262E	ADORA1_uc001gzf.1_Silent_p.E229E|ADORA1_uc001gze.1_Silent_p.E229E|ADORA1_uc010pqg.1_Silent_p.E161E|ADORA1_uc009xak.1_Missense_Mutation_p.A155T	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	229					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.S262S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATGGGAAGGAGCTGAAGATCG	0.572000														33			69		0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135307286	135307286	+	Silent	SNP	G	A	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:135307286G>A	uc003qez.2	-	10	1548	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	HBS1L_uc003qey.2_Silent_p.L283L|HBS1L_uc011ecy.1_Silent_p.L171L|HBS1L_uc011ecz.1_Silent_p.L283L|HBS1L_uc011eda.1_Silent_p.L405L	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	447					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTTCACCACTGAGACCACTTG	0.303000														17			18		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	39	---	---	7	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:147091501delC	uc001epq.3	+	7	2280	c.1540delC	c.(1540-1542)cccfs	p.P514fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.P440fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	514	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								---	188	---	---	10	---					
SLC35F5	80255	broad.mit.edu	37	2	114500277	114500277	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:114500277delA	uc002tku.1	-	6	1156	c.742delT	c.(742-744)tgcfs	p.C248fs	SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Frame_Shift_Del_p.C242fs	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	248					transport	integral to membrane		p.C248fs*22(4)|p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACCACAAAGCAAAAAAAAAAG	0.343													---	68	---	---	7	---					
PHIP	55023	broad.mit.edu	37	6	79655836	79655836	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:79655836delA	uc011dyp.2	-	37	4735	c.4509delT	c.(4507-4509)gttfs	p.V1503fs	PHIP_uc003piq.3_Frame_Shift_Del_p.V528fs|PHIP_uc003pir.3_Frame_Shift_Del_p.V1504fs|IRAK1BP1_uc010kbg.1_Non-coding_Transcript|PHIP_uc003pio.4_Frame_Shift_Del_p.V390fs	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1504					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCTGGTTCGAACCACAGAAC	0.433													---	34	---	---	30	---					
KLHL9	55958	broad.mit.edu	37	9	21333565	21333565	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:21333565delT	uc003zoy.3	-	0	1865	c.1294delA	c.(1294-1296)atgfs	p.M432fs	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	432					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GGTTCACTCATTTTTGCAACA	0.443													---	16	---	---	80	---					
PROZ	8858	broad.mit.edu	37	13	113817346	113817346	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:113817346delC	uc001vta.1	+	3	290	c.283delC	c.(283-285)cccfs	p.P95fs	PROZ_uc010agr.1_Frame_Shift_Del_p.P117fs	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	95	EGF-like 1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	CATCTCCCAGCCCTGCCTCCA	0.682													---	4	---	---	2	---					
SH2D7	646892	broad.mit.edu	37	15	78390841	78390842	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:78390841_78390842insC	uc010blb.1	+	3	548_549	c.548_549insC	c.(547-549)agcfs	p.S183fs		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	183										endometrium(2)|kidney(2)|lung(3)	7						AAGGCCGCCAGCCCCCGCTCTT	0.614													---	21	---	---	23	---