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
ZFHX4	79776	broad.mit.edu	37	8	77768045	77768045	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:77768045G>A	uc003yau.2	+	9	9275	c.8888G>A	c.(8887-8889)gGg>gAg	p.G2963E	ZFHX4_uc003yaw.1_Missense_Mutation_p.G2918E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2918						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)			GAAATGTTAGGGAATGAGATT	0.423000										HNSCC(33;0.089)				33			6		0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69113056	69113056	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:69113056C>T	uc002arl.3	-	0	206	c.35G>A	c.(34-36)cGg>cAg	p.R12Q		NM_006305	NP_006296	P39687	AN32A_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A (ANP32A), mRNA.	12					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						CGTCCTGTTCCGCAGCTCTAA	0.557000														46			11		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137671975	137671975	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:137671975G>A	uc004cfe.3	+	27	2795	c.2413G>A	c.(2413-2415)Ggc>Agc	p.G805S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	805	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGTCTGAAGGGCACAAAGGG	0.592000														111			19		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	438991	438991	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:438991G>A	uc002loq.4	-	2	579	c.579C>T	c.(577-579)gtC>gtT	p.V193V		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	193	PID.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGATCCCCGGACGCCAGGCA	0.677000														5			3		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8587370	8587371	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:8587370_8587371GG>AA	uc002mkg.3	-	26	3248_3249	c.3110_3111CC>TT	c.(3109-3111)ccc>cTT	p.P1037L		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	1037						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCCGAGGCTGGGGCTTGGGTCG	0.634000														18			3		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19135467	19135467	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:19135467G>A	uc002nkz.1	-	2	1752	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	SUGP2_uc002nkx.2_Missense_Mutation_p.P564S|SUGP2_uc002nla.1_Missense_Mutation_p.P564S|SUGP2_uc002nlb.2_Missense_Mutation_p.P564S|SUGP2_uc010xqk.1_Missense_Mutation_p.P333S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	564					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGAATTTCAGGTTTCGTAGGA	0.468000														68			11		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993268	28993268	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr18:28993268G>A	uc002kwr.2	+	14	3025	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	DSG4_uc002kwq.2_Missense_Mutation_p.D945N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	945					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCTGTCTATGATATTCAAGG	0.433000														212			49		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869752	151869752	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:151869752C>T	uc022chf.1	+	0	442	c.442C>T	c.(442-444)Cct>Tct	p.P148S	MAGEA6_uc004ffq.1_Missense_Mutation_p.P148S|MAGEA6_uc004ffr.1_Missense_Mutation_p.P148S	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	148	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTACTTCTTTCCTGTGATCTT	0.522000														89			37		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768279	88768279	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:88768279C>T	uc001kee.2	+	11	1474	c.270C>T	c.(268-270)tcC>tcT	p.S90S	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	90					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TGGGCTGGTCCAACCTGTTTA	0.557000														252			39		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166915616	166915616	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:166915616G>A	uc003irh.2	+	3	1092	c.445G>A	c.(445-447)Gct>Act	p.A149T	TLL1_uc021xud.1_Missense_Mutation_p.A149T|TLL1_uc011cjn.2_Missense_Mutation_p.A149T|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	149	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A149T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCCAGAGCCGCTACATCAAG	0.418000														54			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078644	21078644	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:21078644G>A	uc010vbe.2	-	23	3478	c.3478C>T	c.(3478-3480)Ctg>Ttg	p.L1160L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1160	Stem (By similarity).				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)		TAATCATTCAGCCCTTTCTGG	0.448000														66			10		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839601	100839601	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:100839601G>A	uc003uyc.3	-	5	905	c.738C>T	c.(736-738)ggC>ggT	p.G246G	MOGAT3_uc010lhr.3_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	246					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTGCCAGGAGCCTGTGGCAA	0.582000														33			4		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589404	136589404	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:136589404C>T	uc003qgx.1	-	9	2546	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K	BCLAF1_uc011edb.1_Missense_Mutation_p.E93K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E763K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E763K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E592K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	765					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.E765K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCTTTTCTTCTCGAGAACTG	0.383000														163			10		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75228542	75228542	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:75228542A>C	uc003uds.2	-	1	189	c.144T>G	c.(142-144)atT>atG	p.I48M	HIP1_uc011kfz.2_Missense_Mutation_p.I48M	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	48	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.A47A(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTGCGTATTAATGGCCTTAT	0.498000			T	PDGFRB	CMML									101			18		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523659	95523659	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:95523659G>A	uc003ygo.2	-	12	3215	c.3144C>T	c.(3142-3144)ccC>ccT	p.P1048P	KIAA1429_uc003ygp.3_Silent_p.P1048P|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1048					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GACCTGAGAGGGGGATAGAGC	0.393000														40			4		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365929	88365929	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:88365929C>T	uc003ydy.2	+	9	1266	c.1218C>T	c.(1216-1218)agC>agT	p.S406S		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	406								p.S406S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTGAGATTAGCGTCCTTCTTC	0.323000														60			12		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226570	39226570	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:39226570C>T	uc003cjk.2	-	1	4596	c.4367G>A	c.(4366-4368)gGg>gAg	p.G1456E	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.G139E|XIRP1_uc021wvz.1_Missense_Mutation_p.G1456E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1456							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)		CTCAGGGGCCCCTTGGTGGGA	0.627000														87			19		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22586194	22586194	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:22586194A>G	uc002nqt.2	-	1	273	c.151T>C	c.(151-153)Ttt>Ctt	p.F51L		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(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)				TCACCCACAAAGACCAGGTTT	0.368000														124			7		0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402511	33402511	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:33402511G>A	uc010oho.2	-	8	2095	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Missense_Mutation_p.P698S	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	699						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGGCTCTGGGGGTCGAGGGG	0.587000														104			28		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949342	27949342	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:27949342G>A	uc003zqv.1	-	6	1978	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	LINGO2_uc010mjf.1_Missense_Mutation_p.S443F|LINGO2_uc003zqu.1_Missense_Mutation_p.S443F|LINGO2_uc022bfc.1_Missense_Mutation_p.S443F	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	443	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTCACCCAGGAAATCACAGG	0.532000														58			10		0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212538575	212538575	+	Silent	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:212538575T>C	uc010pte.2	-	8	1386	c.1218A>G	c.(1216-1218)gcA>gcG	p.A406A	TMEM206_uc001hjc.4_Silent_p.A345A	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	345						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGTGGCTCGTTGCCTGACCTC	0.418000														117			48		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77211094	77211094	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr18:77211094C>T	uc010xfg.2	+	4	2183	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	NFATC1_uc002lnc.1_Missense_Mutation_p.S577F|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.3_Missense_Mutation_p.S577F|NFATC1_uc002lne.3_Missense_Mutation_p.S105F|NFATC1_uc010xfh.2_Missense_Mutation_p.S577F|NFATC1_uc010xfi.1_Missense_Mutation_p.S564F|NFATC1_uc010xfj.2_Missense_Mutation_p.S105F|NFATC1_uc002lnf.3_Missense_Mutation_p.S564F|NFATC1_uc002lng.3_Missense_Mutation_p.S564F|NFATC1_uc010xfk.2_Missense_Mutation_p.S564F	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	577	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGCACGCTGTCCCTGCAGGTG	0.622000														93			22		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118202630	118202630	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:118202630C>T	uc001lcl.4	+	2	369	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	90					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CAAGATCACCCGTATCAACAT	0.388000														47			10		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21224993	21224993	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:21224993G>T	uc002red.3	-	28	13429	c.13301C>A	c.(13300-13302)tCc>tAc	p.S4434Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4434					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)	TGAGAGTTGGGAAGTAAAGTT	0.378000														72			13		7.03913e-09	7.15997e-09	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:13762882C>T	uc003jfd.2	-	59	10272	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3410	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)					CCATAGCTTTCGTCCAGGAAC	0.453000									Kartagener syndrome					74			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593051	179593051	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:179593051C>T	uc021vsy.1	-	63	15993	c.15768G>A	c.(15766-15768)atG>atA	p.M5256I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M1917I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6183	Ig-like 33.						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)			CCTTGCACTCCATATGAATAG	0.378000														35			7		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99725877	99725877	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:99725877G>A	uc002szg.4	-	3	654	c.26C>T	c.(25-27)cCa>cTa	p.P9L	TSGA10_uc002szh.4_Missense_Mutation_p.P9L|TSGA10_uc002szi.4_Missense_Mutation_p.P9L|TSGA10_uc010fin.1_Missense_Mutation_p.P9L|TSGA10_uc010yvn.1_Missense_Mutation_p.P9L	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	9					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGGGCGTCTTGGACTTTTAGA	0.388000														101			15		0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426893	6426893	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:6426893C>T	uc003spx.3	+	1	327	c.86C>T	c.(85-87)cCt>cTt	p.P29L	RAC1_uc003spw.3_Missense_Mutation_p.P29L|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.	29					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	p.P29S(1)		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)	AATGCATTTCCTGGAGAATAT	0.353000														80			12		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270284	1270284	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:1270284C>T	uc002cks.3	+	34	6600	c.6352C>T	c.(6352-6354)Cat>Tat	p.H2118Y	CACNA1H_uc002ckt.3_Missense_Mutation_p.H2112Y|CACNA1H_uc002cku.3_Missense_Mutation_p.H813Y|CACNA1H_uc010brj.3_Missense_Mutation_p.H829Y|CACNA1H_uc002ckv.3_Missense_Mutation_p.H807Y	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2118					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCGAGCCCCATGGCCCCGA	0.736000														9			3		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20044017	20044017	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:20044017G>A	uc010nfo.2	-	8	1178	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L	MAP7D2_uc004czq.2_Missense_Mutation_p.P198L|MAP7D2_uc011mji.2_Missense_Mutation_p.P261L|MAP7D2_uc004czr.2_Missense_Mutation_p.P313L|MAP7D2_uc011mjj.2_Missense_Mutation_p.P268L	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	313								p.P354Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGAGACCCTGGGTAGGGAGG	0.493000														105			40		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521247	23521247	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:23521247G>A	uc003jgo.3	+	5	649	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	156					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCCCTTCTGGAGAAGCAAGT	0.418000										HNSCC(3;0.000094)				85			13		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	A	A	rs146807462		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:24895592G>A	uc001upj.3	+	3	749	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428000														193			21		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47498936	47498936	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:47498936G>A	uc001cqt.3	+	3	638	c.388G>A	c.(388-390)Gga>Aga	p.G130R	CYP4X1_uc001cqr.3_Missense_Mutation_p.G129R|CYP4X1_uc001cqs.3_Missense_Mutation_p.G65R	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	130						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						GGCTCTAGACGGACCCAAGTG	0.433000														54			25		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71255498	71255498	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:71255498G>A	uc011cas.2	+	2	254	c.173G>A	c.(172-174)aGa>aAa	p.R58K	SMR3A_uc003hfh.3_Missense_Mutation_p.R58K	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	62	Pro-rich.					extracellular region		p.R58K(1)|p.Y58Y(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGTCCAGGGAGAATCCCACCT	0.602000														120			30		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917366	26917366	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:26917366C>T	uc001wqa.3	-	5	1743	c.957G>A	c.(955-957)ggG>ggA	p.G319G	NOVA1_uc001wpy.3_Silent_p.G441G|NOVA1_uc001wpz.3_Silent_p.G417G	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	444	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTAATGTTTTCCCTCCTTTGC	0.433000														39			6		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322730	79322730	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:79322730C>T	uc010mpk.3	-	7	4584	c.4460G>A	c.(4459-4461)cGa>cAa	p.R1487Q	PRUNE2_uc022bih.1_Missense_Mutation_p.R1309Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1487					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCAAGACTTCGGGGAACTCT	0.438000														25			6		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	A	A	rs121913387		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:21971186G>A	uc003zpk.3	-	1	478	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R58*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P72L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	58			R -> Q (in dbSNP:rs36204273).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R58*(163)|p.?(45)|p.M53_R58del(6)|p.A57V(5)|p.A57P(5)|p.R58fs*59(4)|p.R58fs*88(3)|p.P113L(3)|p.A57_R58>V*(2)|p.R58R(2)|p.M54fs*61(2)|p.A57fs*85(2)|p.A57T(2)|p.R58fs*61(2)|p.R58fs*62(2)|p.A57fs*62(1)|p.A57fs*63(1)|p.R58fs*89(1)|p.0(1)|p.R58Q(1)|p.P113fs*>61(1)|p.G55fs*86(1)|p.V28_V51del(1)|p.A57A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				9			3		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284169	152284169	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:152284169C>T	uc001ezu.1	-	2	3229	c.3193G>A	c.(3193-3195)Ggg>Agg	p.G1065R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1065	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)			CCACTGGACCCCCAGTGTCCA	0.577000									Ichthyosis					774			109		0	0	1	0	0
PRPF4	9128	broad.mit.edu	37	9	116041300	116041300	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:116041300G>A	uc004bgx.3	+	2	394	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	PRPF4_uc004bgy.3_Missense_Mutation_p.R94Q	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	95				HISERQAEVLAEFERRKRARQINVST -> ISASDRQKYWL SLREGSEPGRSMFPP (in Ref. 3; AAC02261).		Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AGAAGGAAGCGAGCCCGGCAG	0.468000														90			15		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525457	154525457	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:154525457C>T	uc010ipp.3	+	24	3345	c.3293C>T	c.(3292-3294)gCc>gTc	p.A1098V	KIAA0922_uc003inm.4_Missense_Mutation_p.A1097V|KIAA0922_uc010ipq.3_Missense_Mutation_p.A866V	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1097						integral to membrane		p.E1098Q(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GAGAACACAGCCGAGTTCAAG	0.423000														66			14		0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129951961	129951961	+	Splice_Site	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:129951961C>T	uc003vpr.3	+	10	1125	c.1078_splice	c.e10+1	p.Y360_splice	CPA4_uc011kpd.2_Splice_Site_p.Y327_splice|CPA4_uc011kpe.2_Splice_Site_p.Y256_splice	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	360					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCACCACTGTCTGTAAGTACT	0.502000														44			6		0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47308679	47308679	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:47308679G>A	uc010hjp.3	-	6	1270	c.666C>T	c.(664-666)atC>atT	p.I222I	KIF9_uc003cqx.3_Silent_p.I222I|KIF9_uc003cqy.3_Silent_p.I222I|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	222	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTCTAAGTAGATGGTGAAAA	0.493000														294			50		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307925	92307925	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:92307925G>A	uc003yez.3	+	3	710	c.471G>A	c.(469-471)gtG>gtA	p.V157V	SLC26A7_uc003yex.3_Silent_p.V157V|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.V157V	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	157						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGGAGGTGTGATTCAGGTAA	0.453000														51			5		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6972535	6972536	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:6972535_6972536CC>TT	uc001qri.4	+	14	2007_2008	c.1948_1949CC>TT	c.(1948-1950)ccg>TTg	p.P650L	USP5_uc001qrh.4_Intron	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	650					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTTCTCCTCTCCGACATGTTAG	0.569000														101			11		0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40095264	40095264	+	Silent	SNP	A	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:40095264A>G	uc002hyj.4	+	6	986	c.897A>G	c.(895-897)aaA>aaG	p.K299K	TTC25_uc021txp.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	299						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AAGCTGAGAAAGTGCTGAAGA	0.507000														12			6		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141771262	141771262	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:141771262C>T	uc002tvj.1	-	13	3215	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	748					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G748*(1)		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)		CACATAATTTCCATGATGCGA	0.378000										TSP Lung(27;0.18)				90			16		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331198	77331198	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:77331198G>A	uc002ffc.4	-	17	3208	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S518F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S626F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	930					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGCCGGGCAGGAGAAAGCGTT	0.403000														123			18		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124332563	124332563	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:124332563C>T	uc001uft.4	+	31	5541	c.5516C>T	c.(5515-5517)aCc>aTc	p.T1839I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1839	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCGGCAAAACCGAGACCACC	0.552000														103			28		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212683	26212683	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:26212683C>T	uc022buc.1	+	0	720	c.720C>T	c.(718-720)acC>acT	p.T240T	MAGEB6_uc004dbr.3_Silent_p.T240T	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	240	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCAACAGAACCTCCCAACATT	0.498000														38			21		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952522	54952522	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:54952522C>T	uc003dhl.3	-	2	1136	c.1002G>A	c.(1000-1002)gtG>gtA	p.V334V	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	334						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTTTTTCTTCCACCTTCCCAG	0.507000														194			31		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202232	248202232	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:248202232C>T	uc001idw.3	+	0	759	c.663C>T	c.(661-663)ctC>ctT	p.L221L	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V220A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GCCGGGTTCTCCTTGCTGTCT	0.502000														228			35		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522539	96522539	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:96522539G>A	uc010qnz.2	+	0	77	c.77G>A	c.(76-78)aGa>aAa	p.R26K	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	26					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)	AGCTCTGGGAGAGGAAAACTC	0.443000														132			32		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687671	158687671	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:158687671G>A	uc021pbn.1	-	0	235	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGCATCTTGGGAATGGTGGCT	0.453000														203			70		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49881982	49881982	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:49881982G>A	uc003cxs.1	-	3	378	c.272C>T	c.(271-273)tCc>tTc	p.S91F	TRAIP_uc010hla.1_Missense_Mutation_p.S91F|TRAIP_uc011bcx.2_Missense_Mutation_p.S91F	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	91					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	p.S91F(4)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTTCTGGGAAAGCTGGGC	0.532000														29			5		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768609	39768609	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:39768609C>T	uc002hxg.4	-	0	471	c.332G>A	c.(331-333)gGg>gAg	p.G111E	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.G111E	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	111	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CACCAGAAGCccatcaccacc	0.607000														97			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754313	140754313	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:140754313C>T	uc003ljy.2	+	0	663	c.663C>T	c.(661-663)gtC>gtT	p.V221V	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_uc011dau.2_Silent_p.V221V	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	221	Cadherin 2.				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)			GCGACCCTGTCCGCTCAAGCG	0.557000														12			3		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121748012	121748012	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:121748012C>T	uc010flp.3	+	12	4552	c.4522C>T	c.(4522-4524)Ccc>Tcc	p.P1508S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.P1180S|GLI2_uc002tmu.4_Missense_Mutation_p.P1163S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1508					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTGGAGGCCCCCCAGATTGA	0.617000														116			22		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459108	45459108	+	RNA	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:45459108C>T	uc001rol.3	-	0		c.87G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CAAACAGATTCCGCATATTCA	0.483000														40			6		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72255943	72255943	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:72255943C>T	uc021rkj.1	-	1	1377	c.954G>A	c.(952-954)ggG>ggA	p.G318G	DACH1_uc021rkk.1_Silent_p.G318G|DACH1_uc021rkl.1_Silent_p.G318G	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	316	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTGGAATTATCCCAGGAGACA	0.443000														56			8		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184787805	184787805	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:184787805G>A	uc001gra.3	-	8	1334	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	FAM129A_uc001grb.1_Silent_p.F143F|FAM129A_uc009wyh.1_Silent_p.F208F|FAM129A_uc009wyi.1_Silent_p.F178F	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	380					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						TGGTGGTCTGGAAGTTCTGGC	0.507000														182			17		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81625493	81625493	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:81625493C>T	uc021ssk.1	-	21	2570	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	857						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AAAGTCTTTTCGGAAAAGAGG	0.527000														106			17		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44073392	44073392	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:44073392C>T	uc002rtq.3	+	2	354	c.264C>T	c.(262-264)atC>atT	p.I88I	ABCG8_uc010yoa.2_Silent_p.I88I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	88	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.G87D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCTGGGCATCCAGAACCTAA	0.552000														51			9		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323206	31323206	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:31323206G>A	uc003jhe.2	+	11	2524	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.E722K(4)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGGTTAAAGGAAAATGACAC	0.562000														49			10		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117664496	117664496	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:117664496G>A	uc001twn.2	-	24	4509	c.3798C>T	c.(3796-3798)ttC>ttT	p.F1266F	NOS1_uc021ren.1_Silent_p.F896F|NOS1_uc021reo.1_Silent_p.F896F|NOS1_uc001twm.2_Silent_p.F1232F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1232					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	p.F1232F(1)		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)	ACCCTCTCACGAAACAGGGGA	0.488000														33			6		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84129265	84129265	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:84129265G>A	uc002fhi.3	-	3	1069	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	189					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTGGCGCGGGATGGCTCTCA	0.587000														98			13		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27017171	27017171	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:27017171G>A	uc010crt.3	+	26	3606	c.3414G>A	c.(3412-3414)cgG>cgA	p.R1138R	SUPT6H_uc002hby.3_Silent_p.R1138R|SUPT6H_uc002hbz.1_Silent_p.R70R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1138					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGGACCTCCGGACAGCCTACC	0.473000														94			26		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546473	11546473	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:11546473G>A	uc010shk.1	-	2	574	c.539C>T	c.(538-540)cCa>cTa	p.P180L		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTCCTTGTGGCTTTCCTGG	0.592000														370			58		0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16528446	16528446	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:16528446G>A	uc002ndx.3	-	11	1116	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.D260D|EPS15L1_uc002ndz.1_Silent_p.D370D|EPS15L1_uc010xpf.1_Silent_p.D273D|EPS15L1_uc002nea.1_Silent_p.D370D|EPS15L1_uc010eah.1_Silent_p.D370D|EPS15L1_uc002neb.1_Silent_p.D216D|EPS15L1_uc002nec.1_Silent_p.D370D	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	370					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.P369L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGCCTGAACTGTCCTAGAATT	0.507000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			8		0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39534665	39534665	+	Silent	SNP	C	T	T	rs150449795		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:39534665C>T	uc003axb.3	-	3	311	c.222G>A	c.(220-222)ccG>ccA	p.P74P	CBX7_uc003axc.3_Silent_p.P74P	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	74					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GCTTGGGTTTCGGACCTCTCT	0.582000														84			16		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113205879	113205879	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:113205879C>T	uc010mtz.3	-	26	4922	c.4585G>A	c.(4585-4587)Gat>Aat	p.D1529N	SVEP1_uc010mua.1_Missense_Mutation_p.D1529N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1529	Pentaxin.				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						AATTTCCCATCGATATAGACT	0.438000														22			7		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11325238	11325238	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:11325238G>A	uc002mqs.4	-	32	4235	c.4194C>T	c.(4192-4194)atC>atT	p.I1398I	DOCK6_uc010xlq.2_Silent_p.I737I	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1398					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTGCACGATGATCTCCAGTG	0.557000														36			17		0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2617906	2617906	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:2617906C>T	uc003sml.1	+	6	680	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	IQCE_uc010ksm.1_Silent_p.L166L|IQCE_uc011jvy.1_Silent_p.L150L|IQCE_uc011jvz.1_Silent_p.L101L|IQCE_uc003smo.4_Silent_p.L166L|IQCE_uc003smk.4_Silent_p.L150L|IQCE_uc003smn.4_Silent_p.L101L	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	166										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CGACGTGGACCTGATGAGAAC	0.612000														51			7		0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3806589	3806589	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:3806589G>A	uc002fww.3	-	6	1095	c.654C>T	c.(652-654)ctC>ctT	p.L218L		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	218					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TCTTGTGAAAGAGGCAGGTCT	0.597000														24			6		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127912721	127912721	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:127912721G>A	uc003qbh.3	+	5	959	c.947G>A	c.(946-948)aGa>aAa	p.R316K		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	316						extracellular region		p.Y315*(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AATGTATATAGAGATCATTCG	0.269000														15			5		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47046037	47046037	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:47046037C>T	uc003cqp.3	+	37	6430	c.6251C>T	c.(6250-6252)aCc>aTc	p.T2084I	NBEAL2_uc010hjm.2_Missense_Mutation_p.T1461I|NBEAL2_uc010hjn.2_Missense_Mutation_p.T480I	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2084	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAACTCAACACCATTGCGGGG	0.587000														47			9		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476830	120476830	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:120476830G>A	uc004bjz.3	+	2	2715	c.2424G>A	c.(2422-2424)tgG>tgA	p.W808*	TLR4_uc004bkb.3_Nonsense_Mutation_p.W608*|TLR4_uc004bka.3_Nonsense_Mutation_p.W768*	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	808	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.W808F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACATCTTCTGGAGACGACTCA	0.537000														89			10		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72307196	72307197	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:72307196_72307197CC>TT	uc001jrd.4	+	17	2537_2538	c.2256_2257CC>TT	c.(2254-2259)taccgc>taTTgc	p.R753C	KIAA1274_uc001jre.4_Missense_Mutation_p.R44C	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	753										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TCTGCACCTACCGCCAGGTGAG	0.649000														39			12		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	621259	621259	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:621259G>A	uc002lpf.1	-	9	2495	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	813	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTGGTTGAAGTGCGGCG	0.711000														20			4		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487988	24487988	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:24487988C>T	uc003jgr.2	-	11	2657	c.2151G>A	c.(2149-2151)agG>agA	p.R717R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	717					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R717M(1)|p.E716*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTCTTTTAGCCTTTCATTAA	0.458000										HNSCC(23;0.051)				98			21		0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26711525	26711525	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:26711525G>A	uc010crl.1	+	4	1300	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	SARM1_uc010waj.1_Non-coding_Transcript|SARM1_uc002hbe.1_5'Flank	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	Homo sapiens sterile alpha and TIR motif containing 1 (SARM1), mRNA.	413					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCAGCTGGAAGGAGGCCGAGG	0.657000														20			4		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54364889	54364889	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:54364889G>A	uc003hag.4	-	4	1153	c.897C>T	c.(895-897)gtC>gtT	p.V299V	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Silent_p.V203V|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	299	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAATGATATGGACCAGTGGGG	0.493000														51			9		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230231809	230231809	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:230231809C>T	uc002vpv.3	-	11	2029	c.1882G>A	c.(1882-1884)Gcg>Acg	p.A628T		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	628					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGGCTCTCCGCCATGTGCCCG	0.512000														24			6		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10858146	10858146	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:10858146G>A	uc003bvz.3	+	0	230	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SLC6A11_uc003bvy.1_Missense_Mutation_p.E66K	NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	66					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CGTGGCCGGGGAGATCATTGG	0.677000														26			4		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52523558	52523558	+	Missense_Mutation	SNP	C	T	T	rs146356041		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:52523558C>T	uc003ded.4	+	16	3454	c.3320C>T	c.(3319-3321)cCg>cTg	p.P1107L	NISCH_uc003dee.4_Missense_Mutation_p.P596L|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1107					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		gcccAGTACCCGAGTGAGCAC	0.687000														50			8		0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27238545	27238545	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:27238545C>T	uc001bnf.3	-	1	701	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	189	Ligand-binding (By similarity).		G -> E (in early-onset obesity; Japanese population; strong decrease of repressor activity).		cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGGTGCCCAATGTGGGAG	0.652000														41			9		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617024	1617025	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr20:1617024_1617025CC>TT	uc002wfm.1	-	2	622_623	c.557_558GG>AA	c.(556-558)ggg>gAA	p.G186E	SIRPG_uc002wfn.1_Missense_Mutation_p.G186E|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	186	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGAGCTCATTCCCATTTTTGAA	0.579000														99			16		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121724107	121724107	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:121724107C>T	uc003ees.3	-	2	566	c.363G>A	c.(361-363)aaG>aaA	p.K121K	ILDR1_uc003eeq.3_Silent_p.K133K|ILDR1_uc003eer.3_Silent_p.K121K|ILDR1_uc010hrg.3_Silent_p.K121K	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	121	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGATGGTGATCTTGCGCTGCC	0.632000														25			4		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477426	128477426	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:128477426G>A	uc002tpg.2	-	15	2372	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	725	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGACCCTGAGGGCCAGGCGGG	0.632000														87			24		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833041	24833041	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:24833041G>A	uc001iru.4	+	18	5245	c.4842G>A	c.(4840-4842)ctG>ctA	p.L1614L	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.L1297L|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.L450L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1614					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGGCACCCTGAAACAGCACA	0.512000														70			15		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177226328	177226328	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:177226328C>T	uc001glf.3	+	3	789	c.477C>T	c.(475-477)acC>acT	p.T159T	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Silent_p.T54T	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	159						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGTCCCTGACCATTTTTGTGG	0.502000														56			8		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74309129	74309129	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:74309129G>A	uc003hgz.1	+	5	728	c.681G>A	c.(679-681)atG>atA	p.M227I	AFP_uc011cbg.1_Missense_Mutation_p.M1I	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	227	Albumin 2.				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)			GTGCAGTAATGAAAAATTTTG	0.388000									Alpha-Fetoprotein, Hereditary Persistence of					61			12		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53007995	53007995	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:53007995G>A	uc002pzp.4	+	4	395	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTGTACAGGGAAGTGATGTT	0.498000														179			30		0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58862778	58862778	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:58862778C>T	uc002qsd.4	-	4	951	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	297	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		ATCAGCTCGACCGGCGCGCTG	0.662000														85			11		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211066	38211066	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:38211066C>T	uc010abx.3	-	10	3158	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K	TRPC4_uc010abv.3_Missense_Mutation_p.E550K|TRPC4_uc001uwt.3_Missense_Mutation_p.E886K|TRPC4_uc001uws.3_Missense_Mutation_p.E970K|TRPC4_uc010tey.2_Missense_Mutation_p.E829K|TRPC4_uc010abw.3_Missense_Mutation_p.E797K|TRPC4_uc010aby.3_Missense_Mutation_p.E821K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	970	Binds to ITPR1, ITPR2 and ITPR3.|PDZ-binding domain.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.E970K(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACGTAATCTTCGTGGGTGACT	0.433000														68			18		0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999696	45999696	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr21:45999696G>A	uc002zfl.1	-	0	786	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	254	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGGAGGCCGGGCGGCAGCAG	0.706000														62			10		0	0	1	0	0
FGFBP1	9982	broad.mit.edu	37	4	15938092	15938092	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:15938092C>T	uc003gom.3	-	2	459	c.164G>A	c.(163-165)gGg>gAg	p.G55E	FGFBP1_uc021xml.1_Missense_Mutation_p.G55E	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	55					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GCCTTTGTTCCCGGGCCTGCT	0.493000														129			25		0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080376	126080376	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:126080376C>T	uc003qad.3	+	4	633	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	HEY2_uc011ebr.2_Missense_Mutation_p.P102S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	148	Orange.				Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTCCTCGGATCCGCTGCGGGT	0.617000														64			8		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85448774	85448774	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:85448774C>T	uc002blg.3	+	7	810	c.608C>T	c.(607-609)tCc>tTc	p.S203F	SLC28A1_uc010upd.1_Missense_Mutation_p.S125F|SLC28A1_uc010bnb.3_Missense_Mutation_p.S203F|SLC28A1_uc010upe.2_Missense_Mutation_p.S203F|SLC28A1_uc010upf.1_Missense_Mutation_p.S203F|SLC28A1_uc010upg.1_Missense_Mutation_p.S203F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	203					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.V202V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGTAGGTGTCCTGGAGGGCC	0.597000														33			10		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975511	116975512	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:116975511_116975512GG>AA	uc001lcg.3	+	8	1791_1792	c.1405_1406GG>AA	c.(1405-1407)ggc>AAc	p.G469N		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	469						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)		AGGTGGATATGGCCATACTAGT	0.332000														41			4		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921574	247921574	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:247921574G>A	uc010pza.2	-	0	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCGTCGCAATGATGAGCATGT	0.493000														32			11		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36079601	36079601	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr21:36079601C>T	uc010gmt.1	+	2	1452	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	CLIC6_uc002yuf.1_Silent_p.I466I	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	484						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.G483G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GTGAGAGTATCGGAAATTGCC	0.438000														72			9		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26688384	26688384	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:26688384G>A	uc001bmg.1	-	6	1451	c.1333C>T	c.(1333-1335)Cat>Tat	p.H445Y	ZNF683_uc001bmh.1_Missense_Mutation_p.H425Y|ZNF683_uc009vsj.1_Missense_Mutation_p.H425Y	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGCAGCCGATGGTGCAGCTTC	0.662000														59			10		0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31903733	31903733	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:31903733C>T	uc010aaz.3	+	14	1535	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	B3GALTL_uc001utn.4_Non-coding_Transcript|B3GALTL_uc001uto.4_Silent_p.F80F	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	475					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AGGTGTATTTCACATGGTTGG	0.507000														81			11		0	0	1	0	0
C2orf66	401027	broad.mit.edu	37	2	197672278	197672278	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:197672278G>A	uc002utv.3	-	1	1132	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	Homo sapiens chromosome 2 open reading frame 66 (C2orf66), mRNA.	81						extracellular region		p.F81F(2)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						CATTCGTGGGGAAAGGATTTG	0.398000														129			32		0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34424175	34424175	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr18:34424175C>T	uc002kzz.3	+	3	264	c.242C>T	c.(241-243)tCc>tTc	p.S81F	KIAA1328_uc021uiw.1_Missense_Mutation_p.S81F	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	81										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTTAAGAATTCCTGCAGGGGA	0.308000														22			10		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33094022	33094022	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:33094022C>T	uc001iwm.1	+	8	1070	c.834C>T	c.(832-834)ttC>ttT	p.F278F	C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwn.4_Silent_p.F302F|C10orf68_uc010qei.1_Silent_p.F250F|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	302										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CAAAGAGTTTCCCTGGTAAGA	0.313000														148			24		0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92772800	92772800	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:92772800C>T	uc001dot.2	+	5	564	c.455C>T	c.(454-456)cCc>cTc	p.P152L	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	152						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GCACAAATTCCCAAAACTCCA	0.284000														49			9		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44228513	44228513	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:44228513C>T	uc003tkl.2	-	0	510	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	14					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATACCTTCTCCTTCTTGGCG	0.562000														31			5		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:165218847G>A	uc001gcz.2	-	3	488	c.294C>T	c.(292-294)ttC>ttT	p.F98F	LMX1A_uc021pdz.1_Silent_p.F98F	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	98	LIM zinc-binding 2.					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)					CGATGGCCTCGAAGCAGCCCC	0.542000														34			4		0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773476	17773476	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:17773476C>T	uc002rcm.3	+	1	519	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_003385	NP_003376	P62760	VISL1_HUMAN	Homo sapiens visinin-like 1 (VSNL1), mRNA.	45	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCTAAATCTCGAGGAATTTC	0.428000														135			32		0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107037521	107037521	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:107037521G>A	uc010ilv.2	-	23	2615	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	TBCK_uc003hyb.2_Silent_p.I493I|TBCK_uc003hye.2_Silent_p.I711I|TBCK_uc003hyc.2_Silent_p.I687I|TBCK_uc003hyd.2_Silent_p.I578I|TBCK_uc003hyf.2_Silent_p.I750I	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	750						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CATTTAATGGGATGGATTCTC	0.353000														46			12		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985573	108985573	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:108985573C>T	uc001tng.3	-	1	750	c.587G>A	c.(586-588)gGa>gAa	p.G196E	TMEM119_uc021rdl.1_Missense_Mutation_p.G196E	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	196						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CATCCTGGCTCCGTCCCCACC	0.677000														29			10		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600146	141600146	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:141600146G>A	uc010ioj.3	-	4	1073	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	267						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)				GTTTGGGCAGGGATCGATCTT	0.418000														177			45		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043436	20043436	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:20043436G>A	uc002dgu.1	-	1	845	c.683C>T	c.(682-684)gCc>gTc	p.A228V	GPR139_uc010vaw.1_Missense_Mutation_p.A135V	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	228						integral to membrane|plasma membrane		p.A228T(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GAACAAGATGGCGGTGGTCTT	0.527000														78			7		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003616	75003616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:75003616C>T	uc004ecj.2	-	0	1464	c.1271G>A	c.(1270-1272)tGg>tAg	p.W424*		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	424	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCAAGTTCCAGACATTGGC	0.488000														84			31		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129712776	129712776	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:129712776G>A	uc021zfb.1	+	35	5317	c.5212G>A	c.(5212-5214)Gaa>Aaa	p.E1738K	LAMA2_uc003qbn.3_Missense_Mutation_p.E1738K|LAMA2_uc003qbo.3_Missense_Mutation_p.E1738K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1738	Domain II and I.				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	p.E1738K(2)		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)		GACACAAAAGGAAATTGCTGA	0.343000														98			17		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316581	30316581	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:30316581G>A	uc009xle.2	-	2	2633	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	KIAA1462_uc001iux.3_Silent_p.I832I|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.I694I	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	832										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						CTAACTGACTGATCAAATCCC	0.557000														124			24		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250705	43250705	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:43250705G>A	uc003ouq.1	+	13	2506	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	TTBK1_uc021yzs.1_Missense_Mutation_p.E31K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	743	Glu-rich.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ggaagatgaggaagaggaaga	0.577000														17			4		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791108	95791108	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:95791108T>A	uc001kjk.3	+	1	939	c.305T>A	c.(304-306)cTt>cAt	p.L102H	PLCE1_uc010qnx.2_Missense_Mutation_p.L102H	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	102					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCGAAAAACCTTAACATTAAC	0.383000														71			22		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946334	66946334	+	Splice_Site	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:66946334C>T	uc002eql.3	-	12	1554	c.1360_splice	c.e12-1	p.I454_splice	CDH16_uc010cdy.3_Splice_Site_p.I454_splice|CDH16_uc021tjx.1_Splice_Site_p.I454_splice|CDH16_uc002eqm.3_Splice_Site_p.I357_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	454					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TAGGCCCAATCTGGAGGAGGA	0.617000														50			14		0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53588086	53588086	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:53588086G>A	uc009zmv.3	-	8	1275	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	ITGB7_uc001scc.3_Missense_Mutation_p.P402S|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	402					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGACCCCAGGAGGGAGTGAA	0.547000														62			16		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329469	56329469	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:56329469C>T	uc010ygf.2	-	3	783	c.72G>A	c.(70-72)caG>caA	p.Q24Q	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	24	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCTTAAAACTCTGAAATTCCT	0.433000														72			12		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137703363	137703363	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:137703363G>A	uc004cfe.3	+	45	3990	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1203	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGGGCCTCGGGGCCAGCAG	0.652000											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			4		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153486393	153486393	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:153486393G>A	uc002tye.3	+	19	2891	c.2524G>A	c.(2524-2526)Gga>Aga	p.G842R	FMNL2_uc010fob.3_Missense_Mutation_p.G298R|FMNL2_uc002tyf.3_Missense_Mutation_p.G291R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	842	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGCAGTTTATGGATTTAAACT	0.418000														24			5		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722110	196722110	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:196722110G>A	uc002utj.4	-	43	8506	c.8405C>T	c.(8404-8406)tCa>tTa	p.S2802L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2802	Stalk (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						CTTATCATATGAATCCATTGC	0.343000														81			11		0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73274394	73274394	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:73274394G>A	uc002jns.4	-	3	1392	c.482C>T	c.(481-483)gCc>gTc	p.A161V	SLC25A19_uc010dge.3_Missense_Mutation_p.A104V|SLC25A19_uc002jnv.4_Missense_Mutation_p.A161V|SLC25A19_uc002jnu.4_Missense_Mutation_p.A161V|SLC25A19_uc002jnw.4_Missense_Mutation_p.A161V|SLC25A19_uc002jnt.4_Missense_Mutation_p.A161V	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	161						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GGTCCCCACGGCGTGGCGCAG	0.562000														102			17		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480495	102480495	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:102480495T>G	uc002tbc.3	+	16	2457	c.2079T>G	c.(2077-2079)agT>agG	p.S693R	MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.S608R|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.S588R|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	617					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GATCAGACAGTGACGAGGTGC	0.448000														83			14		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646595	80646595	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:80646595C>T	uc010ysh.2	+	7	1164	c.1159C>T	c.(1159-1161)Cac>Tac	p.H387Y	CTNNA2_uc010yse.2_Missense_Mutation_p.H387Y|CTNNA2_uc010ysf.2_Missense_Mutation_p.H387Y|CTNNA2_uc010ysg.2_Missense_Mutation_p.H387Y|CTNNA2_uc010ysi.2_Missense_Mutation_p.H19Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	387					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGATGGATCACATATCTGA	0.348000														76			14		0	0	1	0	0
BMPR1A	657	broad.mit.edu	37	10	88672037	88672037	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:88672037C>T	uc001kdy.3	+	7	1119	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	191					BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TCGTTACAATCGTGATTTGGA	0.353000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2					63			8		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123983703	123983703	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:123983703G>A	uc003ktq.1	-	3	2557	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.P792S|ZNF608_uc003ktt.1_Missense_Mutation_p.P792S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	792						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATAATTGTGGGCTTTGGTTGA	0.488000														101			13		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67215859	67215859	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:67215859A>C	uc010dfa.1	-	6	1236	c.357T>G	c.(355-357)aaT>aaG	p.N119K	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfc.1_Missense_Mutation_p.N11K	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	119					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTATCTTCATATTTATTCCAA	0.294000														70			19		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33154568	33154568	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:33154568G>A	uc003ocx.1	-	4	862	c.634C>T	c.(634-636)Cca>Tca	p.P212S	COL11A2_uc003ocy.1_Missense_Mutation_p.P212S|COL11A2_uc003ocz.1_Missense_Mutation_p.P212S|COL11A2_uc003oda.3_Missense_Mutation_p.P212S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	212	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGACCCCTGGGACAATGGCC	0.557000														117			22		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062663	73062663	+	RNA	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:73062663G>A	uc004ebm.1	-	0		c.9926C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AAGGGAAGAGGGAGACAGCAC	0.488000														41			6		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142132991	142132991	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:142132991G>A	uc003eus.3	-	13	1646	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	XRN1_uc010huu.3_5'Flank|XRN1_uc003eut.3_Missense_Mutation_p.P527S|XRN1_uc003euu.3_Missense_Mutation_p.P527S|XRN1_uc003euv.1_Missense_Mutation_p.P388S	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	527					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGCATGCAGGAAGTAAATTT	0.358000														99			20		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190430274	190430274	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:190430274G>A	uc002uqp.4	-	5	917	c.566C>T	c.(565-567)cCc>cTc	p.P189L		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	189					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AACAGCCATGGGGGCTAAGAT	0.483000														73			16		0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91099395	91099395	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:91099395C>T	uc001kgf.3	+	1	1212	c.983C>T	c.(982-984)cCt>cTt	p.P328L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Missense_Mutation_p.P328L	NM_001549	NP_001540	O14879	IFIT3_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA.	328					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GGACTGAATCCTCTGAATGCA	0.418000														95			12		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54095647	54095647	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:54095647C>T	uc011dxa.2	+	11	2887	c.2854C>T	c.(2854-2856)Ctg>Ttg	p.L952L	MLIP_uc003pcg.4_Silent_p.L417L|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	417						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTTCAGTCATCTGTCCTTCTC	0.488000														192			40		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38545122	38545122	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:38545122C>T	uc003cih.2	+	3	566	c.470C>T	c.(469-471)aCc>aTc	p.T157I	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_Missense_Mutation_p.T17I|EXOG_uc003cii.2_Missense_Mutation_p.T17I|EXOG_uc011ayq.1_Missense_Mutation_p.T107I|EXOG_uc003cij.2_Missense_Mutation_p.T17I|EXOG_uc010hhd.2_Missense_Mutation_p.T17I|EXOG_uc010hhe.2_Missense_Mutation_p.T17I|EXOG_uc003cik.2_Missense_Mutation_p.T17I	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.	157						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						ATGGCTGAAACCTTTTACCTT	0.328000														83			13		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863430	55863430	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:55863430C>T	uc010spn.2	-	0	493	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D165N(2)|p.L164F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GCACAGAAATCCAAGTTAAGA	0.368000														87			11		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654630	49654630	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:49654630C>T	uc001jgu.3	-	9	2246	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R544Q|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R634Q|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R591Q|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R640Q|ARHGAP22_uc001jgv.3_Missense_Mutation_p.R332Q|ARHGAP22_uc001jgr.3_Missense_Mutation_p.R351Q	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	634					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCGGGACATTCGTTTTCTCAG	0.498000														48			8		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229662	20229662	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:20229662C>T	uc002nor.2	+	3	1438	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	433						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GTGACAAAGTCTTCAAACGCT	0.413000														38			8		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125094565	125094565	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:125094565C>T	uc003yqw.3	+	32	4463	c.4257C>T	c.(4255-4257)tcC>tcT	p.S1419S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1419	C2 5.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAAAGAGTCCCTGCTCTCCA	0.488000														152			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9033650	9033650	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:9033650G>A	uc002mkp.3	-	8	36491	c.36287C>T	c.(36286-36288)tCc>tTc	p.S12096F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12098	SEA 1.				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						GAACTTCCTGGAACCAGGGTG	0.587000														70			9		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762860	130762860	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:130762860G>A	uc003qcb.3	+	1	3671	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TMEM200A_uc003qca.3_Missense_Mutation_p.M431I|TMEM200A_uc010kfh.3_Missense_Mutation_p.M431I|TMEM200A_uc010kfi.3_Missense_Mutation_p.M431I|TMEM200A_uc021zfg.1_Missense_Mutation_p.M431I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	431						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGGGATATATGAAACTAGAGA	0.453000														84			17		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673127	20673127	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:20673127C>T	uc002dhm.1	-	5	1049	c.981G>A	c.(979-981)caG>caA	p.Q327Q	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.Q327Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	327					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						TGGTGAAATCCTGCTGCAGAA	0.368000														59			14		0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150776809	150776809	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:150776809G>A	uc003wix.1	-	1	381	c.283C>T	c.(283-285)Cct>Tct	p.P95S	FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Missense_Mutation_p.P95S|FASTK_uc003wja.1_Missense_Mutation_p.P61S	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	95					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGCTCCCCAGGGCTCTTCGCC	0.677000														7			3		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882347	152882347	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:152882347C>T	uc021ozl.1	+	0	74	c.74C>T	c.(73-75)cCt>cTt	p.P25L	IVL_uc001fau.3_Missense_Mutation_p.P25L	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	25					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGTTCCTCCTCCAGTCAAT	0.552000														64			26		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39544347	39544347	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:39544347C>T	uc001uwx.3	-	4	629	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	STOML3_uc010tez.2_Missense_Mutation_p.R155Q	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	164						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GATCTCTTCTCGTCCAGCTAA	0.408000														82			22		0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357726	114357726	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:114357726C>T	uc010nqe.3	-	17	1910	c.1879G>A	c.(1879-1881)Ggg>Agg	p.G627R	LRCH2_uc004epz.3_Missense_Mutation_p.G610R	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	627										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCTGCTGCCCCATATTCTTGG	0.418000														12			6		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47221585	47221585	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:47221585C>T	uc010fbb.3	+	6	1301	c.933C>T	c.(931-933)ttC>ttT	p.F311F	TTC7A_uc002rvm.3_Silent_p.F277F|TTC7A_uc002rvn.1_Silent_p.F192F|TTC7A_uc002rvo.3_Silent_p.F311F|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Silent_p.F192F|TTC7A_uc002rvq.3_Silent_p.F51F|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	311							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCTGAGTTCATGGGCAAGG	0.612000														79			17		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160742967	160742967	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:160742967C>T	uc002ubb.4	-	4	951	c.877G>A	c.(877-879)Gac>Aac	p.D293N	LY75-CD302_uc010fos.3_Missense_Mutation_p.D293N|LY75-CD302_uc002ubc.4_Missense_Mutation_p.D293N|LY75-CD302_uc010fot.2_Missense_Mutation_p.D293N	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	293	C-type lectin 1.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GGTTTGTGGTCTGACCATTCC	0.378000														71			16		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51497504	51497504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:51497504G>A	uc003pah.1	-	64	11800	c.11524C>T	c.(11524-11526)Cga>Tga	p.R3842*		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3842			R -> L.		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.A3841V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCTTGGATCGAGCTGTAAAA	0.423000														65			10		0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131191038	131191038	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:131191038G>T	uc004buz.4	+	6	1287	c.889G>T	c.(889-891)Gac>Tac	p.D297Y	CERCAM_uc004buy.1_Missense_Mutation_p.D219Y|CERCAM_uc010mxz.3_Missense_Mutation_p.D219Y|CERCAM_uc010mya.1_Missense_Mutation_p.D138Y	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	297					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTTTGCAGTGGACGGCCCCCG	0.617000														42			5		3.59834e-05	3.64447e-05	1	1	0
ATP12A	479	broad.mit.edu	37	13	25266999	25266999	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:25266999T>C	uc010aaa.3	+	9	1693	c.1360T>C	c.(1360-1362)Ttc>Ctc	p.F454L	ATP12A_uc001upp.3_Missense_Mutation_p.F448L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	448					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.F448L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCGAGCAGAGTTCAAGCCAGG	0.458000														197			31		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546731	11546731	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:11546731G>A	uc010shk.1	-	2	316	c.281C>T	c.(280-282)cCt>cTt	p.P94L		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTCCTGGAGGTGGGGGACC	0.617000														461			75		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513264	61513264	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr20:61513264G>A	uc002ydr.2	-	15	4356	c.4044C>T	c.(4042-4044)acC>acT	p.T1348T	DIDO1_uc002yds.2_Silent_p.T1348T	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1348					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCTCTGCTGTGGTTTTGGGCT	0.577000														110			20		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54847647	54847647	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:54847647G>A	uc021smr.1	+	26	5889	c.5889G>A	c.(5887-5889)gaG>gaA	p.E1963E	UNC13C_uc021sms.1_Silent_p.E1965E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1965	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGATTCGAGAGGATGCCAGGG	0.413000														25			4		0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105905473	105905473	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:105905473C>T	uc004emi.4	+	11	2358	c.2207C>T	c.(2206-2208)cCc>cTc	p.P736L	CXorf57_uc004emj.4_Missense_Mutation_p.P639L	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	736								p.R735K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAAGGAAGGCCCCCAAAACTT	0.383000														49			29		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2716177	2716177	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:2716177G>A	uc009zdu.1	+	26	3610	c.3297G>A	c.(3295-3297)ggG>ggA	p.G1099G	CACNA1C_uc001qkc.2_Silent_p.G1079G|CACNA1C_uc001qjz.2_Silent_p.G1079G|CACNA1C_uc001qkd.2_Silent_p.G1079G|CACNA1C_uc001qke.2_Silent_p.G1079G|CACNA1C_uc001qkf.2_Silent_p.G1079G|CACNA1C_uc009zdw.1_Silent_p.G1079G|CACNA1C_uc001qkg.2_Silent_p.G1079G|CACNA1C_uc001qkh.2_Silent_p.G1079G|CACNA1C_uc001qkl.2_Silent_p.G1099G|CACNA1C_uc001qkj.2_Silent_p.G1079G|CACNA1C_uc001qkk.2_Silent_p.G1079G|CACNA1C_uc001qkn.2_Silent_p.G1079G|CACNA1C_uc001qkm.2_Silent_p.G1079G|CACNA1C_uc001qko.2_Silent_p.G1099G|CACNA1C_uc001qkp.2_Silent_p.G1079G|CACNA1C_uc001qkq.2_Silent_p.G1079G|CACNA1C_uc001qku.2_Silent_p.G1079G|CACNA1C_uc001qkr.2_Silent_p.G1079G|CACNA1C_uc001qks.2_Silent_p.G1079G|CACNA1C_uc001qkt.2_Silent_p.G1079G|CACNA1C_uc009zdv.1_Silent_p.G1076G|CACNA1C_uc001qkb.2_Silent_p.G1079G|CACNA1C_uc001qka.1_Silent_p.G614G|CACNA1C_uc001qki.1_Silent_p.G815G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1099					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)	ACAAAGACGGGGAGGTTGACC	0.552000														24			4		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175763826	175763826	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:175763826C>G	uc003mds.4	+	9	2625	c.2218C>G	c.(2218-2220)Ctg>Gtg	p.L740V	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Missense_Mutation_p.L325V|C5orf25_uc003mdv.3_Missense_Mutation_p.L201V			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	740												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GCCTCTGTCTCTGGCCCAGGC	0.488000														71			16		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292889	33292889	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:33292889T>C	uc001wrq.3	+	12	6040	c.5870T>C	c.(5869-5871)gTt>gCt	p.V1957A		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1957					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCAAGATGTTAGACATCTT	0.388000														82			20		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005475	74005475	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:74005475C>G	uc010wss.1	-	21	4105	c.3877G>C	c.(3877-3879)Gac>Cac	p.D1293H	EVPL_uc002jqi.2_Missense_Mutation_p.D1271H|EVPL_uc010wst.1_Missense_Mutation_p.D741H	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1271	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCAGGCGGTCGATCTCACGC	0.672000														118			11		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264052	67264052	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:67264052C>T	uc002esl.3	-	19	3243	c.3131G>A	c.(3130-3132)cGg>cAg	p.R1044Q	FHOD1_uc010ced.3_Missense_Mutation_p.R851Q	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1044					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCATCTCCCCGGCCTGGCCC	0.597000														81			16		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554752	140554752	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:140554752G>A	uc003lit.3	+	0	2510	c.2336G>A	c.(2335-2337)aGg>aAg	p.R779K	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	779					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACAGGCAGGGAAGTGGAA	0.443000														55			19		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220161167	220161167	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:220161167G>A	uc002vkz.3	-	16	2623	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	PTPRN_uc010zlc.2_Silent_p.F704F|PTPRN_uc002vla.3_Silent_p.F765F|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	794	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCACCTGCCAGAAGTCTGCGA	0.602000														69			7		0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23113987	23113987	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:23113987C>T	uc003xdc.2	+	4	1320	c.672C>T	c.(670-672)gcC>gcT	p.A224A	CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Silent_p.A114A|CHMP7_uc003xde.2_Silent_p.A82A	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	224					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGAAGTTTGCCCGAGGGCCAC	0.532000														151			36		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113085146	113085146	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:113085146G>A	uc021qqp.1	+	7	1338	c.966G>A	c.(964-966)caG>caA	p.Q322Q	NCAM1_uc001pno.3_Silent_p.Q206Q|NCAM1_uc001pnp.3_Silent_p.Q322Q|NCAM1_uc021qqo.1_Silent_p.Q322Q|NCAM1_uc001pnq.3_Silent_p.Q322Q|NCAM1_uc001pnr.3_Silent_p.Q322Q	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	324	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TAGAGGAGCAGGTCACTCTTA	0.458000														25			5		0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99948259	99948259	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:99948259C>T	uc001vog.3	-	1	315	c.141G>A	c.(139-141)gtG>gtA	p.V47V	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR183_uc021rma.1_Silent_p.V47V	NM_004951	NP_004942	P32249	GP183_HUMAN	Homo sapiens G protein-coupled receptor 183 (GPR183), mRNA.	47					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GTAAGTTTCCCACGAGCCCAA	0.428000														85			15		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152500560	152500560	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:152500560C>T	uc021vrb.1	-	54	7757	c.7728G>A	c.(7726-7728)tgG>tgA	p.W2576*	NEB_uc002txu.3_Nonsense_Mutation_p.W2576*|NEB_uc021vrc.1_Nonsense_Mutation_p.W2576*|NEB_uc010fnx.3_Nonsense_Mutation_p.W2576*|NEB_uc021vrd.1_Nonsense_Mutation_p.W2576*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2576					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATGCATGGACCACATCATCT	0.507000														398			66		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50173529	50173529	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:50173529C>T	uc002ppa.3	+	5	1420	c.738C>T	c.(736-738)ttC>ttT	p.F246F	BCL2L12_uc002ppb.3_Silent_p.F245F	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	246					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGACTCTTTCGCCCGCCTGG	0.731000														14			3		0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75312380	75312380	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:75312380C>T	uc021xpc.1	+	1	401	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	64					G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			AGTGAGATTTCCCCTGTGAGT	0.473000														105			15		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142606682	142606682	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:142606682G>A	uc003wby.1	-	13	2133	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	623					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCCCCAGCCCGAATTCGCACC	0.617000														61			8		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976383	4976383	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:4976383C>T	uc010qyt.2	-	0	561	c.561G>A	c.(559-561)atG>atA	p.M187I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAACTTCATGACATCCT	0.423000														40			18		0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49131969	49131969	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:49131969C>A	uc002pjw.3	+	4	1787	c.1090C>A	c.(1090-1092)Ctc>Atc	p.L364I	SPHK2_uc010xzt.2_Missense_Mutation_p.L243I|SPHK2_uc002pjt.3_Missense_Mutation_p.L96I|SPHK2_uc002pjr.3_Missense_Mutation_p.L302I|SPHK2_uc002pjs.3_Missense_Mutation_p.L302I|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Missense_Mutation_p.L266I	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	302					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGACCTGTTGCTCAACTGCTC	0.607000														66			5		0.00198382	0.00200354	1	1	0
PTH2	113091	broad.mit.edu	37	19	49925742	49925742	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:49925742C>T	uc002pnn.1	-	1	388	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	96					neuropeptide signaling pathway	extracellular region				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GCATCCAACACCAGCAGCTTG	0.687000														38			6		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33046326	33046326	+	Splice_Site	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:33046326G>A	uc001wrq.3	+	5	2517	c.2347_splice	c.e5-1	p.G783_splice	AKAP6_uc010aml.3_Splice_Site_p.G780_splice	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	783					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTTTCACAAGGGGTTTGTAAA	0.358000														68			15		0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159420872	159420872	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:159420872C>T	uc003qrx.3	-	0	327	c.137G>A	c.(136-138)gGg>gAg	p.G46E	RSPH3_uc010kju.3_Missense_Mutation_p.G46E	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	46										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTTCCGGTCCCCAGGTTTCCC	0.687000														48			8		0	0	1	0	0
SYN1	6853	broad.mit.edu	37	X	47434645	47434646	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:47434645_47434646CC>TT	uc004die.3	-	9	1315_1316	c.1186_1187GG>AA	c.(1186-1188)ggt>AAt	p.G396N	SYN1_uc004did.3_Missense_Mutation_p.G396N	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	396	C; actin-binding and synaptic-vesicle binding.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CTGGTGGTCACCAATGAGCGGC	0.624000														9			8		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235132	5235132	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:5235132C>T	uc003jdl.3	+	12	1994	c.1856C>T	c.(1855-1857)tCg>tTg	p.S619L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S619L|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	619	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCAGGCCATCGCATGGAGGG	0.428000														70			6		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18692074	18692074	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:18692074G>A	uc001bau.2	+	5	1281	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	IGSF21_uc001bav.2_Missense_Mutation_p.E121K	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	300						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGGCACTGTGGAAGTACGTGC	0.642000														92			22		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984815	90984815	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:90984815C>T	uc002bpl.1	+	7	828	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	243					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTGAAAAATCCGAATGCCAT	0.373000														76			10		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105187113	105187113	+	Silent	SNP	C	T	T	rs144287622	byFrequency	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:105187113C>T	uc001kwy.1	+	20	3420	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1111					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACCCCAGATTCGTTCGAACCA	0.478000														109			35		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102787	92102788	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:92102787_92102788CC>TT	uc001xzs.1	-	16	1863_1864	c.1723_1724GG>AA	c.(1723-1725)gga>AAa	p.G575K	CATSPERB_uc010aub.1_Missense_Mutation_p.G97K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	575					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TATCACTTTTCCATAGTGTATA	0.366000														114			12		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170667	72170667	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:72170667C>A	uc002fcc.4	-	7	1142	c.970G>T	c.(970-972)Gag>Tag	p.E324*	PMFBP1_uc002fcd.3_Nonsense_Mutation_p.E324*|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Nonsense_Mutation_p.E179*	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	324										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTGGTACTCCTCCACATGC	0.542000														32			4		0.00909568	0.00913422	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159284299	159284299	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:159284299G>A	uc010piu.2	-	0	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGGTCCAGGCGAATAATGGTC	0.478000														151			50		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117641144	117641144	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:117641144C>T	uc003pxp.1	-	35	6026	c.5827G>A	c.(5827-5829)Gaa>Aaa	p.E1943K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Missense_Mutation_p.E269K	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1943					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R1942L(1)	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)		GTCAGTTTTTCCCGAGGGAAG	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									62			16		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982316	9982316	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:9982316G>A	uc003gmc.3	-	4	642	c.581C>T	c.(580-582)cCc>cTc	p.P194L	SLC2A9_uc003gmd.3_Missense_Mutation_p.P165L	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	194					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GATCTCCTTGGGTGAGATCTC	0.582000														44			10		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450332	110450332	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:110450332G>A	uc001pkz.1	-	15	3623	c.3338C>T	c.(3337-3339)tCt>tTt	p.S1113F	ARHGAP20_uc001pky.1_Missense_Mutation_p.S1090F|ARHGAP20_uc009yyb.1_Missense_Mutation_p.S1077F|ARHGAP20_uc001pla.1_Missense_Mutation_p.S1077F|ARHGAP20_uc001plb.2_Missense_Mutation_p.S656F	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	1113					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTGGAAGGGAGAAGAACTACA	0.512000														65			12		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700687	192700687	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:192700687C>T	uc002utb.3	-	1	1595	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	414						caveola|cytosol	phosphatidylserine binding|protein binding	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCGGGCTGCACGGGGTCCCCA	0.632000														61			6		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5463182	5463182	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:5463182G>A	uc002gci.3	-	3	1389	c.834C>T	c.(832-834)ttC>ttT	p.F278F	NLRP1_uc002gcg.1_Silent_p.F278F|NLRP1_uc002gch.4_Silent_p.F278F|NLRP1_uc002gck.3_Silent_p.F278F|NLRP1_uc002gcj.3_Silent_p.F278F|NLRP1_uc002gcl.3_Silent_p.F278F|NLRP1_uc010clh.3_Silent_p.F278F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	278					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCAGCTGTGTGAATTTTTGGT	0.502000														216			31		0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277532	135277532	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:135277532G>A	uc004cbl.3	-	1	746	c.677C>T	c.(676-678)tCc>tTc	p.S226F	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	226					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCGGTTACTGGACTTTTTCTT	0.502000														46			8		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846494	47846494	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:47846494C>T	uc011dwm.2	-	2	2120	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	PTCHD4_uc011dwn.2_Missense_Mutation_p.E443K	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	696						integral to membrane	hedgehog receptor activity										ACGCCCAGCTCAATTGAGGTG	0.453000														30			11		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810809	7810809	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:7810809G>A	uc002mht.2	-	3	410	c.343C>T	c.(343-345)Cca>Tca	p.P115S	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.P91S|CD209_uc002mhr.2_Missense_Mutation_p.P91S|CD209_uc002mhs.2_Missense_Mutation_p.P91S|CD209_uc002mhu.2_Missense_Mutation_p.P115S|CD209_uc010dvq.2_Missense_Mutation_p.P115S|CD209_uc002mhq.2_Missense_Mutation_p.P115S|CD209_uc002mhv.2_Missense_Mutation_p.P91S|CD209_uc002mhx.2_Missense_Mutation_p.P71S|CD209_uc002mhw.2_Missense_Mutation_p.P71S|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	115	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GATTTCTCTGGAAGCTCACCC	0.547000														185			29		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307065	14307065	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr20:14307065G>A	uc021war.1	-	0	1088	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.T363I|FLRT3_uc002wow.2_Missense_Mutation_p.T363I	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	363					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TATCTGAATGGTGCTTACAAT	0.493000														170			27		0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029714	150029714	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:150029714C>T	uc003lsn.3	+	2	2983	c.2609C>T	c.(2608-2610)tCc>tTc	p.S870F	SYNPO_uc021yfu.1_Missense_Mutation_p.S870F|SYNPO_uc003lso.4_Missense_Mutation_p.S626F|SYNPO_uc003lsp.3_Missense_Mutation_p.S626F|SYNPO_uc021yfv.1_Missense_Mutation_p.S626F	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	870	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTACACCTCCCCCGGCCAG	0.706000														96			24		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138187013	138187013	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:138187013A>C	uc003esk.3	+	11	1511	c.1285A>C	c.(1285-1287)Act>Cct	p.T429P	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	429						integral to membrane|plasma membrane		p.L428F(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTCATTGCTTACTGACCAAGA	0.577000														39			7		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77756558	77756558	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:77756558G>A	uc003ugx.3	-	18	3633	c.3379C>T	c.(3379-3381)Ccc>Tcc	p.P1127S	MAGI2_uc003ugy.3_Missense_Mutation_p.P1113S|MAGI2_uc010ldx.1_Missense_Mutation_p.P720S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1127						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGTGTCGGGGGAGTGCTGC	0.637000														124			15		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210856645	210856645	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:210856645C>T	uc001hib.2	-	10	3118	c.2948G>A	c.(2947-2949)aGa>aAa	p.R983K	KCNH1_uc001hic.2_Missense_Mutation_p.R956K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	983					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AAAAATGTCTCTCTCTGATTC	0.468000														202			30		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239053	170239053	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:170239053G>A	uc003mau.3	+	9	1312	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	372						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCCAGCATTGAAATTTCCAG	0.413000														115			20		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389519	48389519	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:48389519C>T	uc001jez.3	-	0	1473	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	453	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)	CCAACACACCCAGGACGGAGG	0.617000														34			6		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284596	45284596	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:45284596C>T	uc002ozs.3	+	2	696	c.633C>T	c.(631-633)ttC>ttT	p.F211F	CBLC_uc010ejt.3_Silent_p.F211F	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	211	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TCTTCGAGTTCGACGTCTTCA	0.612000			M		AML									78			10		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530441	54530441	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:54530441C>T	uc001jjt.3	-	1	358	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	98	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						CGGACTTTTTCCAGGGTCTCC	0.577000														117			19		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366918	10366918	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:10366918C>T	uc002gmn.3	-	7	802	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	231	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCGAAGGCTTCCAGTAGGGGG	0.413000														70			7		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34002635	34002635	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:34002635G>A	uc001bxm.1	-	61	10043	c.9866C>T	c.(9865-9867)tCt>tTt	p.S3289F	CSMD2_uc001bxn.1_Missense_Mutation_p.S3145F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3145						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)				GTAGCCCTGAGAATTGTTCTG	0.517000														77			13		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13056097	13056097	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr18:13056097C>T	uc010xac.2	+	18	3588	c.3508C>T	c.(3508-3510)Ctg>Ttg	p.L1170L	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.L695L|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Silent_p.L911L	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	765										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTGGCTCTCCTGGGCAAGTC	0.502000														30			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222899	140222899	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:140222899G>A	uc003lhs.2	+	0	1993	c.1993G>A	c.(1993-1995)Gtt>Att	p.V665I	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_Missense_Mutation_p.V665I	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	676	Cadherin 6.				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)			CACGGCCACGGTTCTGGTGTC	0.647000														67			14		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359606	66359606	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:66359606G>A	uc001oiq.4	-	0	949	c.881C>T	c.(880-882)aCc>aTc	p.T294I	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	294										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGCCCTGCTGGTGGGGGCCAC	0.597000														74			11		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14559293	14559293	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:14559293C>T	uc021wtn.1	-	11	1431	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	381	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTTTGGTCCTGGCCAGCAG	0.647000														8			3		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4852125	4852125	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:4852125G>A	uc002mbj.2	-	4	714	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PLIN3_uc002mbk.2_Silent_p.S167S|PLIN3_uc002mbl.3_Silent_p.S179S	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	179					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGCCCAAGCGGGAGCCCATGA	0.647000											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			6		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884615	24884615	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:24884615C>T	uc001wpf.4	+	8	3978	c.3660C>T	c.(3658-3660)tcC>tcT	p.S1220S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1220					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCATTTTTCCCGCTGCATTG	0.632000														58			13		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44071655	44071655	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:44071655G>A	uc002rtq.3	+	1	163	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ABCG8_uc010yoa.2_Missense_Mutation_p.D25N	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	25					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGGCCTCCAGGATAGATTGTT	0.522000														20			5		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41323714	41323714	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:41323714G>A	uc001rmm.1	+	6	726	c.613G>A	c.(613-615)Gac>Aac	p.D205N	CNTN1_uc009zjy.2_Missense_Mutation_p.D205N|CNTN1_uc001rmn.1_Missense_Mutation_p.D194N|CNTN1_uc001rmo.3_Missense_Mutation_p.D205N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	205	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGAGGCTTCCGACAAAGGCAA	0.388000														152			26		0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99817684	99817684	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:99817684A>G	uc003ppk.3	-	6	929	c.902T>C	c.(901-903)gTt>gCt	p.V301A		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	Homo sapiens coenzyme Q3 homolog, methyltransferase (S. cerevisiae) (COQ3), mRNA.	301					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		CACTGTTTGAACTGACAGACC	0.348000														119			22		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990217	990217	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:990217G>A	uc003zgw.1	+	1	669	c.631G>A	c.(631-633)Gga>Aga	p.G211R		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	211					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCAGAAAAACGGAGGCAACCC	0.602000														62			11		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879284	144879284	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:144879284G>A	uc021ouh.1	-	26	4468	c.4166C>T	c.(4165-4167)tCg>tTg	p.S1389L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1389L|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1345L|PDE4DIP_uc001elv.4_Missense_Mutation_p.S396L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1389					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S1389S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGACTAGACGAATAATCACT	0.517000			T	PDGFRB	MPD									226			33		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9862352	9862352	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:9862352G>A	uc003btg.3	+	6	1128	c.652G>A	c.(652-654)Gac>Aac	p.D218N	TTLL3_uc003btd.4_Missense_Mutation_p.D279N|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_Missense_Mutation_p.D6N|TTLL3_uc010hco.1_Missense_Mutation_p.D154N|TTLL3_uc003bth.4_Missense_Mutation_p.D6N|TTLL3_uc011atj.2_Missense_Mutation_p.D154N|TTLL3_uc003btj.4_Missense_Mutation_p.D6N|TTLL3_uc003bti.4_Missense_Mutation_p.D6N	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	218	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CATCGACAAGGACCTGGAGGC	0.592000														77			15		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45795725	45795725	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr21:45795725C>T	uc010gpt.1	+	5	881	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	TRPM2_uc002zet.1_Missense_Mutation_p.P261S|TRPM2_uc002zeu.1_Missense_Mutation_p.P261S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.P261S|TRPM2_uc002zex.1_Missense_Mutation_p.P47S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	261						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						GGGCAGCTTCCCCGCCGAGTA	0.607000														38			4		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98660391	98660391	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:98660391C>T	uc001vne.3	+	17	2029	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	IPO5_uc001vnf.1_Missense_Mutation_p.P599S|IPO5_uc010tik.1_Missense_Mutation_p.P474S|IPO5_uc010til.1_Missense_Mutation_p.P539S|IPO5_uc001vng.1_Missense_Mutation_p.P220S	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	599					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AGATGATGATCCTCAGGTAAG	0.383000														60			9		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99799824	99799824	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:99799824C>T	uc003utx.1	+	23	2579	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	STAG3_uc011kjk.1_Silent_p.L750L|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Silent_p.L32L	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	808					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.L807L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCTACTTCTCATCTTTAGCC	0.428000														201			41		0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23316062	23316063	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:23316062_23316063GG>AA	uc001yvr.2	-	16	2617_2618	c.2417_2418CC>TT	c.(2416-2418)acc>aTT	p.T806I	HERC2P2_uc010ayf.1_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		ATAAAGTCTTGGTGGCTTCACT	0.500000														112			16		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003126	122003126	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:122003126C>T	uc003eew.4	+	6	2793	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	CASR_uc003eev.4_Silent_p.F775F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	775					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCTGGGCTTCCTGATCGGCT	0.587000														38			8		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43985997	43985997	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:43985997C>T	uc003bdy.2	-	23	3303	c.2989G>A	c.(2989-2991)Gga>Aga	p.G997R	EFCAB6_uc003bdz.2_Missense_Mutation_p.G845R|EFCAB6_uc010gzi.2_Missense_Mutation_p.G845R|EFCAB6_uc010gzj.1_Missense_Mutation_p.G223R	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	997	EF-hand 11.				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)				AGAGAACATCCACATTCTTCC	0.428000														159			27		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564805	46564805	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:46564805G>A	uc001ncv.2	-	6	1076	c.762C>T	c.(760-762)atC>atT	p.I254I	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.I254I|AMBRA1_uc001ncu.1_Silent_p.I254I|AMBRA1_uc010rgu.1_Silent_p.I254I|AMBRA1_uc001ncw.2_Silent_p.I254I|AMBRA1_uc001ncx.2_Silent_p.I254I	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	344					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTCCCACCTGGATGCCAGAAG	0.632000														32			6		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:100912815C>T	uc001pgh.2	-	6	3250	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_uc001pgg.2_Missense_Mutation_p.R217Q|PGR_uc001pgi.2_Missense_Mutation_p.R734Q|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	836	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R836Q(2)|p.R836*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGTTTGACTTCGTAGCCCTTC	0.383000														53			11		0	0	1	0	0
COQ2	27235	broad.mit.edu	37	4	84185424	84185424	+	Silent	SNP	G	A	A	rs6834269		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:84185424G>A	uc003hog.3	-	6	1194	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	COQ2_uc011ccp.2_Intron|COQ2_uc003hof.3_Non-coding_Transcript	NM_015697	NP_056512	Q96H96	COQ2_HUMAN	Homo sapiens coenzyme Q2 homolog, prenyltransferase (yeast) (COQ2), nuclear gene encoding mitochondrial protein, mRNA.	348					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				AATTCCCAAGGACAATCCCTA	0.323000														46			4		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151171225	151171225	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:151171225C>T	uc011bod.2	-	2	662	c.662G>A	c.(661-663)tGg>tAg	p.W221*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	221	LRRCT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCACAGGTCCATGGGTTTCC	0.428000														105			21		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296361	39296361	+	Missense_Mutation	SNP	A	G	G	rs146882220	by1000genomes	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:39296361A>G	uc010cxk.2	-	0	379	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	123	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCACTGGGACCTGCAGCAC	0.652000														37			4		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43477637	43477637	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:43477637G>A	uc003tid.1	+	8	1442	c.837G>A	c.(835-837)ctG>ctA	p.L279L	HECW1_uc011kbi.1_Silent_p.L279L|HECW1_uc003tie.1_Silent_p.L311L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	279	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGACGTGCTGGAAATTGAGG	0.498000														107			18		0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979345	124979345	+	Missense_Mutation	SNP	T	C	C	rs138663713		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:124979345T>C	uc003pzo.3	+	3	564	c.287T>C	c.(286-288)aTc>aCc	p.I96T	NKAIN2_uc003pzn.1_Missense_Mutation_p.I96T|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Missense_Mutation_p.I95T|NKAIN2_uc010ker.3_Missense_Mutation_p.I6T	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	96						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ACAGACCTTATCCTGACTTTT	0.443000														54			15		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89924433	89924433	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:89924433G>A	uc003kju.3	+	7	1389	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	431					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)		ATGTCTCTGCGAATTGGGTGT	0.418000														58			10		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347784	38347784	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:38347784C>T	uc003cib.2	+	0	340	c.267C>T	c.(265-267)ttC>ttT	p.F89F	SLC22A14_uc010hhc.1_Silent_p.F89F|SLC22A14_uc003cia.2_Silent_p.F89F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	89						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)		CTGACCACTTCGTGTTCACAG	0.557000														77			19		0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128987354	128987354	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:128987354C>T	uc003els.3	+	16	1765	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	COPG1_uc010htb.3_Silent_p.I461I	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	555					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CTGTGTCCATCCCTGGTCTGG	0.582000														50			13		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118327281	118327281	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:118327281G>A	uc001lcm.3	+	12	1412	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	457	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CGTCAGGGAGGAAGTTCTGCT	0.438000														53			12		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049985	49049985	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:49049985C>T	uc003cvj.2	+	1	1246	c.1108C>T	c.(1108-1110)Ctc>Ttc	p.L370F	WDR6_uc011bbx.1_Missense_Mutation_p.L241F|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.L314F|WDR6_uc011bbz.1_Missense_Mutation_p.L289F	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	340					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGTCTCGGCTCTCTGCTTCAA	0.607000														67			16		0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416416	153416416	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:153416416C>T	uc004fjz.4	+	1	434	c.401C>T	c.(400-402)tCc>tTc	p.S134F		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	134					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACACCGTCTCCCTGTGTGGT	0.612000														31			13		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32233067	32233067	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:32233067C>T	uc011alu.2	+	25	2482	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	DEPDC5_uc011als.2_Silent_p.F682F|DEPDC5_uc003als.3_Silent_p.F751F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.F751F|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.F200F|DEPDC5_uc011alw.1_Silent_p.F81F|DEPDC5_uc003alw.3_Silent_p.F49F|DEPDC5_uc011alx.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	751					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCGACTACTTCCCTGACCGCC	0.557000														60			22		0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927134	28927134	+	RNA	SNP	C	A	A	rs411622	by1000genomes	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:28927134C>A	uc003jgz.1	+	0		c.158C>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		TCAACAATTACGGCCCAGATT	0.483000														38			4		0.150653	0.150866	1	1	0
BMP5	653	broad.mit.edu	37	6	55638953	55638953	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:55638953C>T	uc003pcq.3	-	3	1633	c.921G>A	c.(919-921)gcG>gcA	p.A307A	BMP5_uc011dxf.2_Silent_p.A307A	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	307					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.A307V(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTACCTCACTCGCCTTGAAGA	0.468000														113			26		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129679332	129679332	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:129679332G>A	uc003vpi.3	-	3	492	c.465C>T	c.(463-465)ttC>ttT	p.F155F	ZC3HC1_uc010lma.3_Silent_p.F42F	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	155					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCCAGAAACAGAACTTCTCAT	0.393000														56			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951118	38951118	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:38951118C>T	uc002oit.3	+	19	2594	c.2464C>T	c.(2464-2466)Ctt>Ttt	p.L822F	RYR1_uc002oiu.3_Missense_Mutation_p.L822F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	822					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)	GCGACTCCATCTTGAACCCAT	0.642000														100			17		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15470728	15470728	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:15470728G>A	uc002rcc.1	-	35	4367	c.4341C>T	c.(4339-4341)ccC>ccT	p.P1447P	NBAS_uc010exl.1_Silent_p.P519P|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1447								p.R1446R(1)		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						TTACCTGAAGGGGTCGAAGGT	0.413000														36			6		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257964	16257964	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:16257964C>T	uc001axk.1	+	10	5433	c.5229C>T	c.(5227-5229)tcC>tcT	p.S1743S	SPEN_uc010obp.1_Silent_p.S1702S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1743					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTCGTTTTCCCAGGCAGAGA	0.557000														213			42		0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110812092	110812092	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:110812092C>T	uc001tqo.2	-	10	1658	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K		NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	553					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TCCTCCTTCTCCATCTTCTGC	0.567000														46			8		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24520729	24520729	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:24520729C>T	uc003nef.3	+	6	1038	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ALDH5A1_uc003neg.3_Missense_Mutation_p.A324V	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	324					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GTGGACCAGGCTGTAGCAGGG	0.507000														81			17		0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9979724	9979724	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:9979724C>T	uc003buf.3	+	4	493	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Nonsense_Mutation_p.Q132*|CRELD1_uc003bug.3_Nonsense_Mutation_p.Q132*	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	132					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GGACCTCTTCCAGTGGCTGTG	0.622000														25			9		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90136492	90136492	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:90136492C>T	uc003kju.3	+	77	16805	c.16709C>T	c.(16708-16710)cCt>cTt	p.P5570L	GPR98_uc003kjt.3_Missense_Mutation_p.P3276L|GPR98_uc003kjw.3_Missense_Mutation_p.P1231L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5570					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)		GTCTTTGAACCTGGCCAGAGA	0.418000														127			25		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810341	106810341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:106810341G>A	uc009yxn.1	-	3	1441	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	GUCY1A2_uc001pjg.1_Nonsense_Mutation_p.R351*|GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.R351*	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	351					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTGTCACATCGAAGCTGCTTC	0.473000														52			15		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53643934	53643934	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:53643934G>A	uc004dsp.3	-	20	2356	c.1954C>T	c.(1954-1956)Ctt>Ttt	p.L652F		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	652					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AACTTACCAAGGGGATCAGAA	0.403000														16			7		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33879634	33879634	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr20:33879634G>A	uc021wck.1	-	0	592	c.474C>T	c.(472-474)atC>atT	p.I158I	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	158										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)			GCAGGTCCTTGATGTTCTTGG	0.617000														75			26		0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128984557	128984557	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:128984557C>T	uc003els.3	+	13	1490	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S	COPG1_uc010htb.3_Missense_Mutation_p.P370S	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	464					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CCAGGAGGGGCCCAAGACCAC	0.572000														59			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228996	21228996	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:21228996C>T	uc002red.3	-	25	10872	c.10744G>A	c.(10744-10746)Gaa>Aaa	p.E3582K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3582					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)	CTTGTATGTTCTCCGTTGGTG	0.483000														66			7		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682406	69682406	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:69682406C>T	uc003hee.3	+	0	694	c.669C>T	c.(667-669)ttC>ttT	p.F223F	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	223					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACTTTTGGTTCCAAATATTTA	0.303000														68			13		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50958944	50958944	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:50958944G>A	uc009xog.3	-	5	952	c.918C>T	c.(916-918)acC>acT	p.T306T	OGDHL_uc001jie.3_Silent_p.T279T|OGDHL_uc010qgt.2_Silent_p.T222T|OGDHL_uc010qgu.2_Silent_p.T70T|OGDHL_uc009xoh.2_Silent_p.T70T	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	279					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						TGTCGATGATGGTCTTGAGGG	0.562000														20			5		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:135692539G>A	uc003lbn.2	-	1	759	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_uc010jef.2_Silent_p.I170I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I179I|TRPC7_uc010jei.2_Silent_p.I179I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	179					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)			GGATGTGCACGATCTCATACT	0.607000														73			18		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632412	143632412	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:143632412C>T	uc011ktv.2	+	0	87	c.87C>T	c.(85-87)tcC>tcT	p.S29S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCCTGTTTTCCCTGTTCTTGG	0.453000														210			34		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22592169	22592169	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:22592169G>A	uc001wdd.2	+	1	401	c.254G>A	c.(253-255)aGa>aAa	p.R85K	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|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_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Missense_Mutation_p.R85K|TCRA_uc001wde.1_Missense_Mutation_p.R59K|TCRA_uc010aji.1_Missense_Mutation_p.R85K					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		ACAGAAGACAGAAAGTCCAGC	0.498000														33			7		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700744	8700744	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:8700744A>C	uc002glp.2	-	0	1924	c.1695T>G	c.(1693-1695)agT>agG	p.S565R		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	565						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCTCAGAGTCACTGGTGTCAC	0.562000														67			11		0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28935868	28935868	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:28935868G>A	uc002drq.3	-	1	178	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Intron|RABEP2_uc010byn.3_Missense_Mutation_p.R44W|RABEP2_uc002drr.3_Missense_Mutation_p.R44W	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	44					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGCTCAGCCCGAAGCCGGCTG	0.652000														52			6		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6238657	6238657	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:6238657G>A	uc001mck.4	-	8	2560	c.2201C>T	c.(2200-2202)cCc>cTc	p.P734L	FAM160A2_uc001mcl.4_Missense_Mutation_p.P720L|FAM160A2_uc001mcm.2_Missense_Mutation_p.P720L	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	720					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGAGGAAGGGGCCAGGGGG	0.597000														73			12		0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110989647	110989647	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:110989647C>A	uc001trh.1	-	1	578	c.350G>T	c.(349-351)gGa>gTa	p.G117V		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA.	117	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GGTGAGAATTCCAATGGGATT	0.428000														166			39		6.2361e-21	6.36136e-21	1	1	0
PLXNC1	10154	broad.mit.edu	37	12	94634421	94634421	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:94634421C>T	uc001tdc.3	+	10	2530	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	761					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTTATATTTCCTGCTACCAC	0.383000														191			31		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	A	A	rs121913500		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:209113112C>A	uc002vcs.3	-	3	641	c.395G>T	c.(394-396)cGt>cTt	p.R132L	IDH1_uc002vct.3_Missense_Mutation_p.R132L|IDH1_uc002vcu.3_Missense_Mutation_p.R132L	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									56			20		1.01871e-10	1.03769e-10	1	1	0
CORO2A	7464	broad.mit.edu	37	9	100895494	100895494	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:100895494C>T	uc004aym.3	-	4	590	c.474G>A	c.(472-474)atG>atA	p.M158I	CORO2A_uc004ayl.3_Missense_Mutation_p.M158I	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	158					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTTCCAGATCATCACCTGCA	0.532000														50			10		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38781078	38781078	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:38781078G>A	uc003ciq.3	-	13	2208	c.2208C>T	c.(2206-2208)atC>atT	p.I736I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	736					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACAGTGACGATGATGCAGT	0.453000														48			8		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2841901	2841901	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr20:2841901C>T	uc002whe.3	+	7	832	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Missense_Mutation_p.R262W|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	262					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTGCAACATCCGGGCACCTCC	0.527000														63			9		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319950	78319950	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:78319950C>T	uc002jyh.2	+	29	8105	c.7962C>T	c.(7960-7962)atC>atT	p.I2654I	RNF213_uc021uen.1_Silent_p.I2605I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0								p.L2654F(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGAGTCCATCAGCCTAGATG	0.517000														79			9		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918339	43918339	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:43918339G>A	uc003tiw.3	-	5	780	c.723C>T	c.(721-723)tcC>tcT	p.S241S	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Silent_p.S198S|URGCP_uc003tiv.3_Silent_p.S166S|URGCP_uc003tix.3_Silent_p.S232S|URGCP_uc003tiy.3_Silent_p.S198S|URGCP_uc003tiz.3_Silent_p.S198S|URGCP_uc011kbj.2_Silent_p.S198S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	241					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGGGGGCTGGGACCACCATG	0.612000														31			4		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275983	113275983	+	Silent	SNP	G	A	A	rs61754530		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	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)				82			11		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166503	19166503	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:19166503G>A	uc001bba.1	-	5	2111	c.2110C>T	c.(2110-2112)Ccc>Tcc	p.P704S		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	704					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGGGTGGTGGGACTGAGGCCC	0.557000														94			14		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14954330	14954331	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrY:14954330_14954331AC>TT	uc004fst.1	+	37	7322_7323	c.6377_6378AC>TT	c.(6376-6378)cac>cTT	p.H2126L	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	2126					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTTATTGCACACTTTTCCTTGC	0.391000														59			26		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587201	56587201	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr18:56587201C>G	uc010xeg.2	+	2	1879	c.1682C>G	c.(1681-1683)tCg>tGg	p.S561W	ZNF532_uc002lhp.3_Missense_Mutation_p.S559W|ZNF532_uc002lho.3_Missense_Mutation_p.S561W|ZNF532_uc002lhr.3_Missense_Mutation_p.S559W|ZNF532_uc002lhs.3_Missense_Mutation_p.S559W	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAGCAGCCTCGCAACCCCCC	0.527000														19			4		0	0	1	0	0
APOA2	336	broad.mit.edu	37	1	161192228	161192228	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:161192228G>A	uc001fzc.1	-	3	328	c.270C>T	c.(268-270)ttC>ttT	p.F90F	APOA2_uc001fzb.1_Non-coding_Transcript	NM_001643	NP_001634	P02652	APOA2_HUMAN	Homo sapiens apolipoprotein A-II (APOA2), mRNA.	90					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAAGTTCCACGAAATAGCTCA	0.522000														156			48		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457674	124457674	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:124457674G>A	uc001lgn.3	-	2	615	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	195										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ACCCCAGACAGAAATGAGGAG	0.473000														67			11		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605454	5605454	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrY:5605454G>A	uc004fqo.3	+	4	4228	c.3494G>A	c.(3493-3495)tGc>tAc	p.C1165Y	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1165					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTGCTCTATGCCACAGCCCA	0.552000														48			6		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163907	151163907	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:151163907C>T	uc011bod.2	-	3	3862	c.3862G>A	c.(3862-3864)Gag>Aag	p.E1288K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1288					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGGAAGCTCCTTCTTTGTT	0.423000														185			36		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968940	106968940	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:106968940C>T	uc003prh.3	+	1	3545	c.2633C>T	c.(2632-2634)cCc>cTc	p.P878L		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	878							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTGTCACAGCCCACGACTGAG	0.468000														90			13		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235333	8235333	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:8235333G>A	uc003wsh.4	-	1	586	c.586C>T	c.(586-588)Cct>Tct	p.P196S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	196							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTTGGTAAGGAAATGAGGGT	0.627000														83			13		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128298072	128298072	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:128298072G>A	uc003qbk.3	-	25	4203	c.3836C>T	c.(3835-3837)tCc>tTc	p.S1279F	PTPRK_uc010kfc.3_Missense_Mutation_p.S1286F|PTPRK_uc003qbj.3_Missense_Mutation_p.S1280F|PTPRK_uc011ebu.2_Missense_Mutation_p.S1302F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1279	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTAACCTGGGACAAGTCGAC	0.358000														74			15		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191173	152191173	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:152191173C>T	uc001ezt.1	-	2	3008	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	978					keratinization		calcium ion binding|protein binding			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)			GAAGACGAACCTGAGCTAGAT	0.572000														389			53		0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48658291	48658291	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:48658291G>A	uc011bbo.2	-	1	464	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	155						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTCTGGGTGGAAGTCCCCTT	0.602000														108			18		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628143	48628143	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:48628143C>T	uc002ird.3	+	10	1389	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	SPATA20_uc002irc.3_Silent_p.Y67Y|SPATA20_uc002ire.3_Silent_p.Y356Y|SPATA20_uc002irf.3_Silent_p.Y400Y|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	400					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGGGCGCCTACTATGTGTGGA	0.642000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		112			22		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361149	70361149	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:70361149C>T	uc003hek.4	-	0	478	c.431G>A	c.(430-432)aGa>aAa	p.R144K	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.R144K	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	144					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AACATCAAATCTTGACTCCTG	0.393000														43			11		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860439	16860439	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:16860439A>C	uc002neu.4	+	5	1408	c.986A>C	c.(985-987)gAt>gCt	p.D329A	NWD1_uc002net.4_Missense_Mutation_p.D194A|NWD1_uc002nev.4_Missense_Mutation_p.D123A|NWD1_uc021uqg.1_Missense_Mutation_p.D194A	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	329							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCAGGCACGATGACAGCAAG	0.617000														60			11		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179603690	179603690	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:179603690C>T	uc010pnp.2	+	7	1743	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	TDRD5_uc021pfm.1_Missense_Mutation_p.P409S|TDRD5_uc001gnf.2_Missense_Mutation_p.P409S|TDRD5_uc021pfn.1_Missense_Mutation_p.P409S|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	409					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGGAATTGCCCTTCAAAAAA	0.413000														127			46		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868931	108868931	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:108868931C>T	uc010ywo.2	+	1	283	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	95						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACTGAAATTTCCCCATAAAGA	0.398000														60			10		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17428260	17428260	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:17428260C>T	uc001mnc.3	-	25	3364	c.3238G>A	c.(3238-3240)Gtc>Atc	p.V1080I		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1080	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACAGACGTGACGAGGCACAGC	0.587000														70			9		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50948764	50948764	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:50948764C>T	uc009xog.3	-	14	2247	c.2213G>A	c.(2212-2214)gGa>gAa	p.G738E	OGDHL_uc001jie.3_Missense_Mutation_p.G711E|OGDHL_uc010qgt.2_Missense_Mutation_p.G654E|OGDHL_uc010qgu.2_Missense_Mutation_p.G502E	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	711					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						ACCCAGGACTCCGTACTCCGA	0.657000														24			7		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874582	36874582	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:36874582C>T	uc003cgj.3	-	20	6608	c.6360G>A	c.(6358-6360)gtG>gtA	p.V2120V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2120					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						GGGCTAATTTCACTTGGTCAG	0.413000														21			4		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926815	22926815	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:22926815C>T	uc002dli.3	+	1	1108	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	346						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGACCAGCTCCGAGAATTTTA	0.443000														191			39		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932427	83932427	+	Missense_Mutation	SNP	C	T	T	rs149687703		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:83932427C>T	uc002bjt.1	-	3	1664	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	BNC1_uc010uos.1_Missense_Mutation_p.E514K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	526					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						AATGGCATTTCGTTTGAAATG	0.488000														103			26		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900853	51900853	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:51900853C>T	uc002iua.2	+	0	615	c.459C>T	c.(457-459)atC>atT	p.I153I	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	153					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTGGGAAATCCAGAAACTGC	0.557000														89			23		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651132	6651132	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:6651132G>A	uc001mem.1	-	10	5207	c.4806C>T	c.(4804-4806)tcC>tcT	p.S1602S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1602	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGCACCACGGACAGCGCTC	0.652000														31			7		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190585360	190585360	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:190585360C>T	uc002uqw.2	+	11	2570	c.2482C>T	c.(2482-2484)Ctg>Ttg	p.L828L	ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqx.2_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	828						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AATCCCAAGCCTGATAAATCT	0.284000														87			18		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928871	4928871	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:4928871G>A	uc010qyq.2	+	0	272	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGCCATGGGAATTTCACCT	0.448000														129			20		0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601492	58601492	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:58601492G>A	uc010yht.1	-	1	341	c.311C>T	c.(310-312)tCc>tTc	p.S104F	ZSCAN18_uc002qrj.3_Missense_Mutation_p.S48F|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S48F|ZSCAN18_uc002qri.2_Missense_Mutation_p.S48F|ZSCAN18_uc002qrk.1_Missense_Mutation_p.S48F|ZSCAN18_uc002qrl.2_Missense_Mutation_p.S48F	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	48	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACGCAGGCGGGAGAACTCCAG	0.682000														45			6		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72736954	72736954	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:72736954C>T	uc010wrc.2	+	1	346	c.156C>T	c.(154-156)atC>atT	p.I52I	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|RAB37_uc010wrb.2_Silent_p.I15I|RAB37_uc002jlk.3_Silent_p.I47I|RAB37_uc010wre.2_Intron	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	47					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GTTTCCTGATCCAATTCAAAG	0.577000														176			44		0	0	1	0	0
PITPNB	23760	broad.mit.edu	37	22	28256204	28256204	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:28256204C>A	uc011akh.2	-	8	638	c.566G>T	c.(565-567)tGt>tTt	p.C189F	PITPNB_uc003adk.3_Missense_Mutation_p.C187F|PITPNB_uc003adl.3_Missense_Mutation_p.C187F|PITPNB_uc011akg.2_5'Flank	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.	187					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						CATCTGGGGACAGTCAGGGCT	0.363000														29			6		0.248553	0.248553	1	1	0
ANK3	288	broad.mit.edu	37	10	61832293	61832293	+	Silent	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:61832293T>C	uc001jky.3	-	36	8684	c.8346A>G	c.(8344-8346)aaA>aaG	p.K2782K	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.	2782					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						CCATAAAATCTTTTTGCACAG	0.373000														85			18		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131949411	131949411	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:131949411G>A	uc003ytd.4	-	4	1645	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	ADCY8_uc010mds.3_Silent_p.D463D	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	463					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTAGTAGCAGTCCCCCAGGA	0.498000										HNSCC(32;0.087)				39			7		0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176764725	176764726	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:176764725_176764726GG>AA	uc003mge.3	-	3	731_732	c.494_495CC>TT	c.(493-495)ccc>cTT	p.P165L		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	165	Carbohydrate binding (By similarity).|L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCATCATTGGGGTAGGTGTC	0.540000														22			9		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288690	107288690	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:107288690G>A	uc011lvn.2	-	0	801	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L267I(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTTCCCAAGGAGGTCCTGGG	0.428000														95			29		0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	553031	553031	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:553031C>T	uc002chf.3	+	6	1668	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	RAB11FIP3_uc010uuf.2_Silent_p.T147T|RAB11FIP3_uc010uug.2_Silent_p.T178T	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	443					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGGCCCTGACCATGGAGGCCC	0.592000														57			9		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652968	55652968	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:55652968T>C	uc010rip.2	+	1	156	c.64T>C	c.(64-66)Ttc>Ctc	p.F22L	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	22						intracellular	zinc ion binding										CATGAACTACTTCCTAGACCC	0.498000														95			17		0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74239560	74239560	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:74239560C>T	uc002awc.1	+	3	1838	c.1502C>T	c.(1501-1503)aCc>aTc	p.T501I		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	501	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACCTCTCATACCCAGGTTGGG	0.612000														60			7		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739356	38739356	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:38739356C>T	uc003ciq.3	-	26	5355	c.5355G>A	c.(5353-5355)ctG>ctA	p.L1785L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1785					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCATCTGGATCAGTATATTTC	0.488000														64			19		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813482	248813482	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:248813482C>T	uc010pzo.2	-	0	704	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234M(1)|p.G235R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACAGCCTTTCCCCTCCCCTC	0.512000														35			5		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159698	154159698	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:154159698G>C	uc004fmt.3	-	13	2538	c.2367C>G	c.(2365-2367)gaC>gaG	p.D789E		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	789	B.				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)	CAAACCAAGGGTCAGTCTTCT	0.428000														107			43		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101323690	101323690	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:101323690C>T	uc001pgk.4	-	12	3217	c.2792G>A	c.(2791-2793)aGa>aAa	p.R931K	TRPC6_uc009ywy.3_Missense_Mutation_p.R815K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	931					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTCGCATTATCTATTGGTTTC	0.343000														111			14		0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153346320	153346320	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:153346320G>A	uc001fbr.1	-	2	330	c.262C>T	c.(262-264)Cac>Tac	p.H88Y		NM_005621	NP_005612	P80511	S10AC_HUMAN	Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA.	88					defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TTGTGGGTGTGGTAATGGGCA	0.478000														70			26		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129380963	129380963	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:129380963G>A	uc021zfb.1	+	2	423	c.318G>A	c.(316-318)aaG>aaA	p.K106K	LAMA2_uc003qbn.3_Silent_p.K106K|LAMA2_uc003qbo.3_Silent_p.K106K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	106	Laminin N-terminal.				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)		TTGATGGAAAGAACACTTGGT	0.358000														60			20		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47788571	47788571	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr18:47788571C>T	uc002lee.2	-	1	179	c.88G>A	c.(88-90)Ggc>Agc	p.G30S		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	30										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCTCCTTGGCCTTTAGGAGGC	0.398000														60			9		0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120197774	120197774	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:120197774G>A	uc002tma.3	-	12	1468	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	SCTR_uc002tlz.3_Silent_p.H236H	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	414					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGCCACGGGGTGCAGTGGGA	0.632000														22			5		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451521	19451521	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:19451521C>T	uc002dgc.4	+	2	910	c.161C>T	c.(160-162)cCa>cTa	p.P54L	TMC5_uc010vaq.2_Missense_Mutation_p.P54L|TMC5_uc002dgb.4_Missense_Mutation_p.P54L|TMC5_uc010var.2_Missense_Mutation_p.P54L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	54						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGAGCAATCCATACTCTGTA	0.498000														98			18		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38101301	38101301	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:38101301G>A	uc003chp.1	+	2	652	c.631G>A	c.(631-633)Gat>Aat	p.D211N	DLEC1_uc003cho.1_Missense_Mutation_p.D211N|DLEC1_uc010hgv.1_Missense_Mutation_p.D211N|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	211					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTCCCCAGAAGATTACTACAC	0.478000														185			27		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104577352	104577352	+	Splice_Site	SNP	T	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:104577352T>G	uc003hxe.1	-	3	1029	c.888_splice	c.e3+1	p.K296_splice		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	296						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)		GACCAGTACCTTTCTTTTGGC	0.388000														100			12		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10775926	10775926	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:10775926C>T	uc002czz.1	-	3	859	c.787G>A	c.(787-789)Gat>Aat	p.D263N		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	263					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.I262I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CACTTCTCATCGATACACTGG	0.537000														128			21		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336962	162336962	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:162336962C>T	uc001gbv.2	+	9	1613	c.1226C>T	c.(1225-1227)gCt>gTt	p.A409V	NOS1AP_uc001gbw.2_Missense_Mutation_p.A404V|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Missense_Mutation_p.A114V	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	409					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCGGGCTTGGCTGACTTTGCC	0.677000														80			24		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111085661	111085661	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:111085661C>T	uc001trn.4	+	13	1899	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	TCTN1_uc009zvs.3_Silent_p.A576A|TCTN1_uc001trm.3_Silent_p.A472A|TCTN1_uc001trp.4_Silent_p.A562A|TCTN1_uc001trj.2_Silent_p.A520A|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	576					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CCATCAATGCCAGGCTGCCCT	0.517000														65			15		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596225	173596225	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:173596225C>T	uc001gja.1	-	3	631	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	206								p.G190E(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TAAGGAGTTTCCCTGATCCCT	0.353000														145			21		0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75314928	75314928	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:75314928T>C	uc021xpc.1	+	2	685	c.475T>C	c.(475-477)Tgc>Cgc	p.C159R		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	159	EGF-like.				G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			TCACGGAGAATGCAAATATAT	0.338000														19			6		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170139862	170139862	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:170139862C>T	uc003mas.3	+	1	595	c.66C>T	c.(64-66)atC>atT	p.I22I	KCNIP1_uc003map.3_Intron|KCNIP1_uc003mat.3_Intron|KCNIP1_uc010jjp.3_Intron|KCNIP1_uc010jjq.3_Intron	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	22					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.I22I(2)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTAGACATCGCCTGGTGGT	0.413000														81			18		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121551083	121551084	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:121551083_121551084CC>TT	uc001leo.3	+	3	586_587	c.370_371CC>TT	c.(370-372)cct>TTt	p.P124F	INPP5F_uc001len.4_Missense_Mutation_p.P124F	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	124							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CATACCATCTCCTGATGACTCA	0.327000														85			7		0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1717360	1717360	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:1717360C>T	uc010uvh.2	+	15	3061	c.3061C>T	c.(3061-3063)Cct>Tct	p.P1021S	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	1021						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TGTCAGCATCCCTTCGAGGCC	0.627000														42			4		0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133683	118133683	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:118133683C>T	uc001psn.3	-	1	571	c.188G>A	c.(187-189)tGg>tAg	p.W63*	MPZL2_uc001pso.3_Nonsense_Mutation_p.W63*	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	63	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ACGAAAATTCCAGGTCACTGT	0.468000														174			23		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160523777	160523777	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:160523777G>A	uc001fwh.4	-	2	627	c.548C>T	c.(547-549)aCt>aTt	p.T183I	CD84_uc001fwf.4_Missense_Mutation_p.T183I|CD84_uc009wtn.3_Missense_Mutation_p.T183I|CD84_uc001fwi.4_Missense_Mutation_p.T69I|CD84_uc001fwg.4_Missense_Mutation_p.T183I|CD84_uc001fwj.3_Missense_Mutation_p.T183I|CD84_uc001fwk.3_Missense_Mutation_p.T183I	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	183	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTCCTCAGGAGTCTGGAAGAT	0.488000														77			23		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164772993	164772993	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:164772993C>T	uc003fei.3	-	12	1564	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	501	Isomaltase.				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)	ATCCAAAGTCCATCATATTGC	0.328000										HNSCC(35;0.089)				72			18		0	0	1	0	0
CTSH	1512	broad.mit.edu	37	15	79231507	79231507	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:79231507A>G	uc021srk.1	-	1	195	c.98T>C	c.(97-99)tTt>tCt	p.F33S	CTSH_uc010unf.1_Non-coding_Transcript|CTSH_uc010ung.1_Missense_Mutation_p.F33S	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	33					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						CTTGAAGTGAAACTTCTCTGT	0.368000														38			6		0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96397680	96397680	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:96397680G>T	uc001ten.1	-	16	1617	c.1549C>A	c.(1549-1551)Cac>Aac	p.H517N	LTA4H_uc010suy.1_Missense_Mutation_p.H479N|LTA4H_uc010suz.1_Intron|LTA4H_uc010sva.1_Non-coding_Transcript	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	517					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CGCTTTATGTGCCCCAATGGA	0.398000														44			4		0.0381472	0.0382548	1	1	0
ALK	238	broad.mit.edu	37	2	29497997	29497997	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:29497997G>A	uc002rmy.3	-	10	2961	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	670					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTGTCTTGGTGAATTTTCCCC	0.468000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					75			7		0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77708877	77708877	+	Silent	SNP	G	A	A	rs143305291		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:77708877G>A	uc002jxa.3	+	2	455	c.435G>A	c.(433-435)ggG>ggA	p.G145G		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	145					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACCCGGGCGGGAACGTCACCT	0.597000														37			6		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810301	31810301	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:31810301C>T	uc001ivs.4	+	6	2101	c.2038C>T	c.(2038-2040)Cct>Tct	p.P680S	ZEB1_uc001ivr.4_Missense_Mutation_p.P462S|ZEB1_uc010qef.2_Missense_Mutation_p.P462S|ZEB1_uc009xlj.1_Missense_Mutation_p.P606S|ZEB1_uc010qeg.1_Missense_Mutation_p.P539S|ZEB1_uc009xlk.1_Missense_Mutation_p.P462S|ZEB1_uc001ivu.4_Missense_Mutation_p.P681S|ZEB1_uc010qeh.2_Missense_Mutation_p.P613S|ZEB1_uc001ivv.4_Missense_Mutation_p.P660S|ZEB1_uc001ivt.4_Missense_Mutation_p.P462S|ZEB1_uc009xlo.2_Missense_Mutation_p.P663S|ZEB1_uc009xlp.3_Missense_Mutation_p.P664S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	680					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCTACAAAGTCCTTTGAAGAT	0.448000														74			9		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844903	123844903	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:123844903C>T	uc001lfv.3	+	3	3248	c.2888C>T	c.(2887-2889)cCt>cTt	p.P963L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P963L|TACC2_uc010qtv.2_Missense_Mutation_p.P963L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	963						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGTCTCGCCTCCAGCAGCA	0.542000														105			22		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41092699	41092699	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:41092699C>T	uc002oob.3	+	12	1234	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	SHKBP1_uc002ooc.3_Silent_p.I370I|SHKBP1_uc010xvl.1_Silent_p.I318I|SHKBP1_uc002ooe.3_Silent_p.I232I|SHKBP1_uc010xvm.2_Intron|SHKBP1_uc010xvn.2_Silent_p.I273I	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	395						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAACTGGATCGAGATCGCCT	0.622000														73			14		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73731413	73731413	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:73731413C>T	uc010ttx.2	+	20	3267	c.3104C>T	c.(3103-3105)tCa>tTa	p.S1035L	PAPLN_uc001xnw.4_Missense_Mutation_p.S1008L|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.S1019L|PAPLN_uc010arm.3_Missense_Mutation_p.S234L|PAPLN_uc010arn.3_Missense_Mutation_p.S235L	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1035	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATCCCCTCTTCACACCCACAG	0.657000														99			31		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679330	87679330	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:87679330G>A	uc003ydx.3	-	5	723	c.675C>T	c.(673-675)gtC>gtT	p.V225V	CNGB3_uc010maj.3_Silent_p.V87V	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	225					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGGCAAGAGTGACAAGCAAGA	0.433000														35			11		0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33247056	33247056	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:33247056G>A	uc011lbi.2	-	3	953	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	FUT10_uc003xjc.3_Missense_Mutation_p.P220S|FUT10_uc003xjd.3_Missense_Mutation_p.P185S|FUT10_uc003xje.3_Missense_Mutation_p.P213S|FUT10_uc003xjf.3_Missense_Mutation_p.P151S|FUT10_uc003xjg.3_Missense_Mutation_p.P185S|FUT10_uc003xjh.3_Missense_Mutation_p.P213S			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	213					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TACACCAGCGGAGCAAGTCTT	0.473000														124			24		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527622	70527622	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:70527622C>T	uc001xly.3	-	2	2573	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	SLC8A3_uc001xlv.3_5'UTR|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Missense_Mutation_p.E607K|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Missense_Mutation_p.E607K|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	607	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)		CTTTCGTATTCCTCCTCATCT	0.428000														68			17		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66944275	66944275	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:66944275G>A	uc002eql.3	-	14	2249	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	CDH16_uc010cdy.3_Silent_p.I663I|CDH16_uc021tjx.1_Silent_p.I646I|CDH16_uc002eqm.3_Silent_p.I588I	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	685	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCCACTCACGATCAAGCCAT	0.637000														63			9		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228297	6228297	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:6228297G>A	uc001amb.2	-	1	231	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	40					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)		GCTCCACAGGGAAAAAGTCAT	0.502000														214			40		0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102522	87102522	+	RNA	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:87102522G>A	uc010osh.2	+	3		c.506G>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTCCGGTGGGGAGTATTTGAT	0.368000														97			17		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46780502	46780502	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:46780502G>A	uc003bhw.1	-	19	6821	c.6821C>T	c.(6820-6822)cCc>cTc	p.P2274L	CELSR1_uc011arc.1_Missense_Mutation_p.P595L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2274					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCTCCCTGGGGAACTCTTC	0.542000														28			4		0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	T	T	rs144660402		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:102087367C>T	uc010lhz.1	+	3	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_uc003uzj.2_Silent_p.F211F|ORAI2_uc003uzk.2_Silent_p.F211F|ORAI2_uc011kks.1_Silent_p.F134F	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	211						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667000														26			5		0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137717797	137717798	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:137717797_137717798GT>AG	uc003ero.1	+	0	140_141	c.87_88GT>AG	c.(85-90)cagtgg>caAGgg	p.W30G		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	30					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCATGGACCAGTGGAGCACCCA	0.584000														76			16		0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17349574	17349574	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:17349574C>T	uc011jxz.1	+	1	693	c.80C>T	c.(79-81)cCa>cTa	p.P27L		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	27					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAGCCAATCCCAGCTGAAGGA	0.363000														45			8		0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45913839	45913839	+	Missense_Mutation	SNP	G	A	A	rs144936742	byFrequency	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:45913839G>A	uc002ima.3	+	6	956	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	LRRC46_uc002imb.3_Missense_Mutation_p.R151Q	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA.	198										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGCTCAGAACGAGGTGACCCT	0.612000														33			6		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17447126	17447126	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:17447126G>A	uc002zlw.3	-	5	1260	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	384										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGCCCACAGGGATGCAGACAC	0.587000														56			11		0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670364	131670364	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:131670364C>T	uc004bwl.4	+	2	1175	c.921C>T	c.(919-921)acC>acT	p.T307T	LRRC8A_uc010myp.3_Silent_p.T307T|LRRC8A_uc010myq.3_Silent_p.T307T	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	307					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						GCTACCGCACCTACCGCTGTG	0.542000														119			15		0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819408	42819408	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:42819408G>A	uc002otk.1	+	6	626	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	192						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ttGTTACTTTGGATGTGAGTC	0.537000														87			16		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296178	10296178	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:10296178C>T	uc002gmm.2	-	36	5528	c.5433G>A	c.(5431-5433)ggG>ggA	p.G1811G	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1811					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						TCTGCTTCTTCCCACCCTTCA	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					165			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412221	179412221	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:179412221C>T	uc021vsy.1	-	287	86653	c.86428G>A	c.(86428-86430)Gaa>Aaa	p.E28810K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E22505K|TTN_uc021vta.1_Missense_Mutation_p.E22438K|TTN_uc021vtb.1_Missense_Mutation_p.E22313K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29737	Fibronectin type-III 110.						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)			AAAGAATATTCCATGTATTTT	0.393000														25			5		0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913983	160913983	+	RNA	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:160913983G>A	uc003qtj.2	-	2		c.338C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCAGTAGTTCGAGATCAAGCC	0.493000														102			17		0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2638229	2638229	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:2638229G>A	uc003sml.1	+	16	1755	c.1571G>A	c.(1570-1572)aGa>aAa	p.R524K	IQCE_uc010ksm.1_Missense_Mutation_p.R524K|IQCE_uc011jvy.1_Missense_Mutation_p.R508K|IQCE_uc011jvz.1_Missense_Mutation_p.R459K|IQCE_uc003smo.4_Missense_Mutation_p.R524K|IQCE_uc003smk.4_Missense_Mutation_p.R508K|IQCE_uc003smn.4_Missense_Mutation_p.R459K	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	524										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCCGCGGCCAGAGTCCTGCAG	0.687000														54			11		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022179	14022179	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:14022179A>T	uc003wwq.3	-	4	1117	c.457T>A	c.(457-459)Ttt>Att	p.F153I	SGCZ_uc010lss.3_Missense_Mutation_p.F106I	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	140					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)		CTCACTTCAAATCTTTTACAC	0.413000														66			11		0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260805	42260805	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:42260805C>T	uc002orm.2	+	1	511	c.362C>T	c.(361-363)aCc>aTc	p.T121I		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	121	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.T121T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GGATTCTATACCCTACAAGTC	0.493000														415			79		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880254	39880254	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:39880254G>A	uc001zkh.3	+	8	1485	c.1306G>A	c.(1306-1308)Ggt>Agt	p.G436S	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	436	TSP type-1 2.				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)	TAAACAGGATGGTGGCTGGAG	0.507000														92			13		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41165918	41165918	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:41165918C>T	uc010jxm.1	-	1	484	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	102	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCACCAGTATCGGCCTGAGTC	0.617000														66			7		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271961	17271961	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:17271961G>A	uc001iou.2	+	1	953	c.540G>A	c.(538-540)gaG>gaA	p.E180E	BC078172_uc001iot.1_Non-coding_Transcript	NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	180	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCTGGCCGAGGACATCATGC	0.697000														14			6		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25915531	25915531	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:25915531G>A	uc010crg.3	+	5	1047	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Missense_Mutation_p.R3Q	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	337					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAGATGGTACGGAGGGATATC	0.647000														7			3		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358718	72358718	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:72358718C>T	uc009xqg.3	-	2	920	c.759G>A	c.(757-759)gaG>gaA	p.E253E	PRF1_uc001jrf.4_Silent_p.E253E	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	253	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTCCTCCACCTCGTTGTCCG	0.632000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					44			7		0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394203	52394203	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:52394203G>A	uc002pxy.3	-	4	1512	c.1186C>T	c.(1186-1188)Cac>Tac	p.H396Y	ZNF577_uc002pxv.3_5'Flank|ZNF577_uc002pxw.3_5'Flank|ZNF577_uc010yde.2_5'Flank|ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTCCTGAGTGAATTTTCTGA	0.443000														143			40		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068310	89068310	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:89068310C>T	uc001xww.3	+	10	1622	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ZC3H14_uc010twd.2_Missense_Mutation_p.S466L|ZC3H14_uc010twe.2_Missense_Mutation_p.S466L|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Missense_Mutation_p.S11L|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	466						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GACACAAGATCATTTATTCTG	0.423000														88			23		0	0	1	0	0
PPBPP2	10895	broad.mit.edu	37	4	74919860	74919860	+	RNA	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:74919860G>A	uc010iim.1	-	0		c.1257C>T								Homo sapiens pro-platelet basic protein-like 2 (PPBPL2), non-coding RNA.																		CTGCAAGAGAGAATAGAATTA	0.448000														24			6		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109954514	109954514	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:109954514G>A	uc003ptn.2	-	10	1023	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	AKD1_uc003ptr.4_Missense_Mutation_p.R316C	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	316					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						GCAAGAGTACGAAATAGCTCA	0.303000														34			7		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26696415	26696415	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:26696415C>T	uc002rhk.3	-	27	3556	c.3429G>A	c.(3427-3429)cgG>cgA	p.R1143R	OTOF_uc010yla.2_5'UTR|OTOF_uc002rhh.3_Silent_p.R396R|OTOF_uc002rhi.3_Silent_p.R453R|OTOF_uc002rhj.3_Silent_p.R396R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1143					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R1143R(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTAGGTCCCGTAGGCCCC	0.617000														44			11		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162508649	162508649	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:162508649C>T	uc003iqh.3	-	7	1409	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	FSTL5_uc003iqi.3_Missense_Mutation_p.G324S|FSTL5_uc010iqv.3_Missense_Mutation_p.G324S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	325	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)		TGTTCATAGCCATCTGCATAG	0.358000														95			12		0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906302	144906302	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:144906302T>A	uc022cfn.1	+	0	2359	c.2359T>A	c.(2359-2361)Tcc>Acc	p.S787T	SLITRK2_uc004fcd.3_Missense_Mutation_p.S787T|SLITRK2_uc010nsp.3_Missense_Mutation_p.S787T|SLITRK2_uc010nso.3_Missense_Mutation_p.S787T|SLITRK2_uc011mwq.2_Missense_Mutation_p.S787T|SLITRK2_uc011mwr.2_Missense_Mutation_p.S787T|SLITRK2_uc011mws.2_Missense_Mutation_p.S787T|SLITRK2_uc004fcg.3_Missense_Mutation_p.S787T|SLITRK2_uc011mwt.2_Missense_Mutation_p.S787T|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	787						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTGCCCCTTCCTATGAATC	0.458000														77			32		0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41168114	41168114	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:41168114C>A	uc002icm.1	-	5	1266	c.1146G>T	c.(1144-1146)aaG>aaT	p.K382N	VAT1_uc010cyw.1_Missense_Mutation_p.K248N|VAT1_uc010whk.1_Missense_Mutation_p.K314N	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	382						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCAGGAGGACCTTGCCCACAT	0.552000														337			94		4.09499e-44	4.18324e-44	1	1	0
RNF123	63891	broad.mit.edu	37	3	49740122	49740122	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:49740122C>T	uc003cxh.3	+	19	1772	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	RNF123_uc010hky.1_Silent_p.I224I|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	562						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCGGCTGATCTCTGCCCTGC	0.562000														226			35		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158541537	158541537	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:158541537G>A	uc003qrc.2	-	10	1228	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	SERAC1_uc003qrb.2_Silent_p.I90I	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	362					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GATTTGCCAGGATTCTGGCAG	0.448000														92			16		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52474019	52474019	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:52474019G>A	uc003dea.1	-	10	1239	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	413	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCCAGAACATGAGGGGGTGGG	0.642000														73			20		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413391	124413391	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:124413391G>A	uc010sam.2	-	0	160	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGAGTGTGCAGGTGAGAGTTC	0.483000														90			19		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026961	93026961	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:93026961G>A	uc022axs.1	-	3	678	c.491C>T	c.(490-492)tCc>tTc	p.S164F	RUNX1T1_uc003yfc.2_Missense_Mutation_p.S78F|RUNX1T1_uc010mam.3_Missense_Mutation_p.S78F|RUNX1T1_uc003yfe.2_Missense_Mutation_p.S68F|RUNX1T1_uc003yfd.3_Missense_Mutation_p.S105F|RUNX1T1_uc022axo.1_Missense_Mutation_p.S105F|RUNX1T1_uc010mao.3_Missense_Mutation_p.S78F|RUNX1T1_uc011lgi.2_Missense_Mutation_p.S116F|RUNX1T1_uc022axp.1_Missense_Mutation_p.S105F|RUNX1T1_uc022axq.1_Missense_Mutation_p.S105F|RUNX1T1_uc022axr.1_Missense_Mutation_p.S105F|RUNX1T1_uc022axt.1_Missense_Mutation_p.S105F|RUNX1T1_uc022axu.1_Missense_Mutation_p.S85F|RUNX1T1_uc022axv.1_Missense_Mutation_p.S105F|RUNX1T1_uc003yfb.2_Missense_Mutation_p.S68F|RUNX1T1_uc003yff.1_Missense_Mutation_p.S68F|RUNX1T1_uc003yfg.2_Missense_Mutation_p.S68F	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	105	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A163S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGAGGAGGAGGAAGAAGAGGA	0.547000														74			13		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57921906	57921906	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:57921906G>A	uc002emt.2	-	31	3380	c.3315C>T	c.(3313-3315)acC>acT	p.T1105T	CNGB1_uc010cdh.2_Silent_p.T1099T	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1105					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGAGCTTTGGGGTGCCCGCCC	0.582000														89			11		0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126073501	126073501	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:126073501G>A	uc001qde.3	-	6	1000	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	RPUSD4_uc010sbl.2_Missense_Mutation_p.R123C|RPUSD4_uc009zbz.3_Missense_Mutation_p.R285C	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	316					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		GGGATGTAGCGGGCCTTCGAC	0.582000														36			15		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129772231	129772231	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:129772231C>T	uc001qfm.3	-	21	3692	c.3460G>A	c.(3460-3462)Gaa>Aaa	p.E1154K	PRDM10_uc001qfj.3_Missense_Mutation_p.E1055K|PRDM10_uc001qfk.3_Missense_Mutation_p.E1017K|PRDM10_uc001qfl.3_Missense_Mutation_p.E1068K|PRDM10_uc010sbx.2_Missense_Mutation_p.E1064K|PRDM10_uc001qfn.3_Missense_Mutation_p.E1150K	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E1150K(1)|p.I1153V(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATATGCACTTCGCTGCTTCCG	0.542000														97			29		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140640956	140640956	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:140640956C>T	uc021xsg.1	-	4	3690	c.2938G>A	c.(2938-2940)Gga>Aga	p.G980R	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.G443R	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	976					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)					TTGAATGGTCCCAATTCTCCA	0.577000														23			9		0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48506018	48506019	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:48506018_48506019CC>TT	uc003ctf.1	+	10	2044_2045	c.2012_2013CC>TT	c.(2011-2013)ccc>cTT	p.P671L	ATRIP_uc011bbj.1_Missense_Mutation_p.P544L|ATRIP_uc003ctg.1_Intron|TREX1_uc010hjy.3_5'UTR|TREX1_uc003ctj.3_5'Flank|TREX1_uc010hjz.3_5'Flank|TREX1_uc003ctk.3_5'Flank|TREX1_uc010hka.3_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	671					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCAGAGCCCCTTGCCCCCAG	0.604000								Other conserved DNA damage response genes						96			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587850	179587850	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:179587850C>T	uc021vsy.1	-	71	18377	c.18152G>A	c.(18151-18153)aGa>aAa	p.R6051K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2712K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6978	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTGCATCTCTTTTTGTGCT	0.383000														46			6		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647898	121647898	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:121647898C>T	uc003eep.2	+	15	1564	c.1411C>T	c.(1411-1413)Cac>Tac	p.H471Y	SLC15A2_uc011bjn.1_Missense_Mutation_p.H440Y	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	471					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)	CCTGAAATATCACAATTTGTC	0.388000														193			36		0	0	1	0	0
FGF17	8822	broad.mit.edu	37	8	21905578	21905578	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:21905578G>A	uc003xai.3	+	2	1839	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	FGF17_uc003xag.3_Missense_Mutation_p.G157R|FGF17_uc003xah.3_Missense_Mutation_p.G146R	NM_003867	NP_003858	O60258	FGF17_HUMAN	Homo sapiens fibroblast growth factor 17 (FGF17), mRNA.	157					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CACGCGGCAGGGGCGGCCCCG	0.657000														21			6		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369151	86369151	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:86369151G>A	uc001vll.1	-	1	1952	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	SLITRK6_uc021rla.1_Missense_Mutation_p.P498L	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	498						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTACTTACAGGTAGATGGGT	0.403000														73			11		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101063357	101063357	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:101063357G>A	uc010lhy.1	+	1	450	c.258G>A	c.(256-258)ccG>ccA	p.P86P	EMID2_uc003uyo.1_Silent_p.P86P	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	86	EMI.					collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GCCGGTGGCCGGGGCCCTGCG	0.652000														42			6		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683824	69683824	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:69683824C>T	uc003hee.3	+	1	821	c.796C>T	c.(796-798)Cct>Tct	p.P266S	UGT2B10_uc011cam.2_Missense_Mutation_p.P182S	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	266					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTTAAATTTCCTCATCCATT	0.383000														217			36		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70503813	70503813	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:70503813C>T	uc001dep.3	+	18	2222	c.2192C>T	c.(2191-2193)cCa>cTa	p.P731L	LRRC7_uc009wbg.3_Missense_Mutation_p.P15L|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	731						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCATCTTTCCCACAGCCTCTT	0.507000														250			37		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143056427	143056427	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:143056427G>A	uc010lpa.3	-	3	404	c.260C>T	c.(259-261)tCa>tTa	p.S87L	FAM131B_uc010loz.3_Missense_Mutation_p.S27L|FAM131B_uc003wct.3_Missense_Mutation_p.S59L|FAM131B_uc003wcu.4_Missense_Mutation_p.S59L|ZYX_uc011ktd.2_5'Flank	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	59										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					ACCTGAGAATGATGACTTGGC	0.502000														17			3		0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305744	39305744	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:39305744C>T	uc002hwb.3	-	0	311	c.276G>A	c.(274-276)agG>agA	p.R92R		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	97	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcaggtggtcctgcagcagg	0.662000														39			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106471457	106471457	+	RNA	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:106471457G>A	uc021ser.1	-	2492		c.43533C>T								Parts of antibodies, mostly variable regions.																		GCTAGTGAAGGTGTATCCAGA	0.547000														144			17		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175332856	175332856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:175332856G>A	uc001gkp.1	-	10	2776	c.2695C>T	c.(2695-2697)Cga>Tga	p.R899*	TNR_uc009wwu.1_Nonsense_Mutation_p.R899*	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	899	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R899*(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGGTGGGTCGATATGATACT	0.448000														91			35		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220467231	220467231	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:220467231C>T	uc002vml.3	+	5	556	c.513C>T	c.(511-513)ctC>ctT	p.L171L	STK11IP_uc010zlk.2_Silent_p.L160L|STK11IP_uc010zll.2_Silent_p.L160L|STK11IP_uc002vmm.1_Silent_p.L160L	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	171					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCTGCCCTCCCTTGGCTGG	0.597000														70			8		0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421867	124421867	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:124421867G>A	uc001ufw.1	-	4	881	c.734C>T	c.(733-735)cCa>cTa	p.P245L	CCDC92_uc001ufv.1_Missense_Mutation_p.P228L|CCDC92_uc001ufx.1_Missense_Mutation_p.P245L	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	245										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CAGCAGAAATGGGGTGGGGTC	0.622000														50			14		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676729	56676729	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:56676729G>A	uc010dcz.2	-	13	2113	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	TEX14_uc002iwr.2_Silent_p.S659S|TEX14_uc002iws.2_Silent_p.S659S|TEX14_uc010dda.2_Silent_p.S439S	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	665						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTTCCATGGATTTCAGTT	0.468000														141			22		0	0	1	0	0
THAP2	83591	broad.mit.edu	37	12	72070869	72070870	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:72070869_72070870CC>AT	uc001swq.3	+	2	1281_1282	c.668_669CC>AT	c.(667-669)acc>aAT	p.T223N		NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 2 (THAP2), mRNA.	223						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CTAAAACAGACCAAGAGTACCT	0.342000														47			10		0	0	1	0	0
AK302514	0	broad.mit.edu	37	6	66014494	66014494	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:66014494G>A	uc011dxv.2	+	1	2771	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		CGTCCTACAGGAACCCCCAGC	0.537000														27			4		0	0	1	0	0
KCTD15	79047	broad.mit.edu	37	19	34302347	34302347	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:34302347C>T	uc002nuy.4	+	5	851	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	KCTD15_uc002nuv.3_Missense_Mutation_p.P195S|KCTD15_uc002nuw.4_Missense_Mutation_p.P195S|KCTD15_uc010xrt.2_Missense_Mutation_p.P195S|KCTD15_uc002nux.4_Missense_Mutation_p.P195S	NM_001129994	NP_001123467	Q96SI1	KCD15_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 15 (KCTD15), transcript variant 2, mRNA.	195						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					GGAGGTCTTCCCCGAGACCGG	0.672000														15			3		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196967294	196967294	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:196967294T>G	uc001gts.4	+	6	1135	c.1007T>G	c.(1006-1008)gTt>gGt	p.V336G		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	336	Sushi 6.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATAGCAGGAGTTAATATAAAA	0.284000														17			6		0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029170	68029170	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:68029170C>T	uc001onr.4	-	3	1735	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	431						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GGGTGTAGTCCTTCTTCTTGT	0.557000														71			21		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43211924	43211924	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:43211924C>T	uc003xpz.1	+	11	1426	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	POTEA_uc003xqa.1_Silent_p.I415I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	461										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TATCAAAAATCCAGGATGCAG	0.363000														81			16		0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381374	102381374	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:102381374G>A	uc003ykc.1	+	0	254	c.237G>A	c.(235-237)agG>agA	p.R79R	NACAP1_uc010mbs.1_Non-coding_Transcript					Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA.																		GGAAGGCTAGGTTCAAACTGG	0.443000														214			45		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31419781	31419781	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:31419781G>A	uc010cap.1	+	9	1094	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	ITGAD_uc010vfl.1_3'UTR|ITGAD_uc002ebv.1_Missense_Mutation_p.E349K|ITGAD_uc002ebw.1_3'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	349					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTTCCAGCACGAGATGTCCCA	0.562000														37			6		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	703431	703431	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:703431T>C	uc002cii.1	+	10	1267	c.1213T>C	c.(1213-1215)Ttc>Ctc	p.F405L	WDR90_uc002cig.1_Missense_Mutation_p.F405L|WDR90_uc002cih.1_Missense_Mutation_p.F406L|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	405										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCAGCGCTTCTTCCTTGGCCA	0.677000														43			10		0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150482592	150482592	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:150482592C>T	uc001euv.3	+	4	599	c.400C>T	c.(400-402)Cct>Tct	p.P134S	ECM1_uc010pcf.2_Missense_Mutation_p.P29S|ECM1_uc010pce.2_Missense_Mutation_p.P36S|ECM1_uc001eus.3_Missense_Mutation_p.P107S|ECM1_uc001eut.3_Missense_Mutation_p.P107S|ECM1_uc009wlu.3_5'UTR	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	107					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCCCCTCTCCCTCAGGAAGC	0.567000														157			17		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021874	132021874	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:132021874C>T	uc002tsn.2	+	14	2898	c.2846C>T	c.(2845-2847)aCc>aTc	p.T949I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.T549I|POTEE_uc002tsl.2_Missense_Mutation_p.T531I|POTEE_uc010fmy.1_Missense_Mutation_p.T413I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	949	Actin-like.						ATP binding										CAGGTCATCACCATCGGCAAC	0.607000														120			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745193	140745193	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:140745193C>T	uc003lju.2	+	0	1296	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L	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_uc011das.2_Silent_p.L432L	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	434	Cadherin 4.				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)			CCCCGCCCCTCTCTACAGAAA	0.448000														96			25		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141526828	141526828	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:141526828C>A	uc002tvj.1	-	34	6684	c.5712G>T	c.(5710-5712)atG>atT	p.M1904I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1904					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)		CTGATATAGGCATCAAAGCAT	0.353000										TSP Lung(27;0.18)				64			8		0.00448238	0.00451413	1	1	0
FAT3	120114	broad.mit.edu	37	11	92526108	92526108	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:92526108G>A	uc001pdj.4	+	7	4804	c.4787G>A	c.(4786-4788)gGa>gAa	p.G1596E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1596	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGACAAAGGAGAAAATGCA	0.443000										TCGA Ovarian(4;0.039)				57			8		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751729	73751729	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:73751729G>A	uc011dyh.2	+	2	907	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	KCNQ5_uc003pgj.4_Missense_Mutation_p.R187Q|KCNQ5_uc011dyi.2_Missense_Mutation_p.R187Q|KCNQ5_uc010kat.3_Missense_Mutation_p.R187Q|KCNQ5_uc003pgk.3_Missense_Mutation_p.R187Q|KCNQ5_uc011dyj.2_Missense_Mutation_p.R187Q|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	187					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R187*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGCTGTTGTCGATATAGAGGA	0.428000														217			42		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197143364	197143364	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:197143364G>T	uc002utm.1	-	14	3206	c.3023C>A	c.(3022-3024)tCc>tAc	p.S1008Y	HECW2_uc002utl.1_Missense_Mutation_p.S652Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1008	Interaction with TP73.|WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGTGGTGCGGGAGTTGTGGTC	0.507000														38			7		0.000157383	0.000159174	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24762363	24762363	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:24762363C>T	uc001iru.4	+	5	1456	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	KIAA1217_uc001irs.3_Silent_p.I271I|KIAA1217_uc001irt.4_Silent_p.I351I|KIAA1217_uc010qcy.2_Silent_p.I351I|KIAA1217_uc010qcz.2_Silent_p.I351I|KIAA1217_uc001irv.1_Silent_p.I201I|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.I69I|KIAA1217_uc001irz.3_Silent_p.I69I|KIAA1217_uc001irx.3_Silent_p.I69I|KIAA1217_uc001iry.3_Silent_p.I69I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	351	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGGACAGAATCTCCAGCCTGC	0.552000														87			20		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103901748	103901748	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:103901748C>T	uc001kum.3	+	4	3522	c.3483C>T	c.(3481-3483)ttC>ttT	p.F1161F	PPRC1_uc001kun.3_Silent_p.F1041F|PPRC1_uc010qqj.2_Silent_p.F1161F|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TACAGGCTTTCATCAGTGAGA	0.557000														53			13		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46812068	46812068	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:46812068C>T	uc001ndi.2	-	13	1842	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	CKAP5_uc009ylg.1_Silent_p.K458K|CKAP5_uc001ndj.2_Silent_p.K572K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	572					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTTTCTTGTTCTTGGTTCCAG	0.448000														76			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665314	179665314	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:179665314G>A	uc021vsy.1	-	3	616	c.391C>T	c.(391-393)Cct>Tct	p.P131S	TTN_uc021vsz.1_Missense_Mutation_p.P131S|TTN_uc021vta.1_Missense_Mutation_p.P131S|TTN_uc021vtb.1_Missense_Mutation_p.P131S|TTN_uc002unb.2_Missense_Mutation_p.P131S|TTN_uc002und.3_Missense_Mutation_p.P131S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	131	Ig-like 2.						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)			ACAGGTGTAGGGATTCCAGTC	0.517000														98			24		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75276590	75276590	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:75276590G>A	uc001juo.3	-	17	3611	c.3594C>T	c.(3592-3594)tcC>tcT	p.S1198S	USP54_uc010qkk.2_Silent_p.S380S|USP54_uc001juk.3_Silent_p.S286S|USP54_uc001jul.3_Silent_p.S286S|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	1198					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTCTTCCCAGGAAAGTGGTC	0.522000														209			26		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720083	179720083	+	Silent	SNP	C	T	T	rs76860661		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:179720083C>T	uc002une.2	-	18	3169	c.3051G>A	c.(3049-3051)gtG>gtA	p.V1017V	CCDC141_uc002unf.1_Silent_p.V496V	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	442							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTCTTCTATCACCTCCTGGA	0.358000														60			13		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38904066	38904066	+	Silent	SNP	A	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:38904066A>T	uc003jln.2	+	7	1476	c.1074A>T	c.(1072-1074)atA>atT	p.I358I		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	358	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGCACTCCATAAGGAATAATT	0.313000														28			8		0	0	1	0	0
WNT1	7471	broad.mit.edu	37	12	49374390	49374390	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:49374390G>C	uc001rsu.3	+	2	740	c.542G>C	c.(541-543)gGc>gCc	p.G181A		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	181					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CGCCTCTTCGGCCGGGAGTTC	0.667000														15			4		0	0	1	0	0
C9orf173	441476	broad.mit.edu	37	9	140146528	140146528	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:140146528C>T	uc004cmk.1	+	2	353	c.341C>T	c.(340-342)tCc>tTc	p.S114F	LOC100129722_uc022bqg.1_Intron|C9orf173_uc004cmj.1_Missense_Mutation_p.S115F|C9orf173_uc011meu.1_Intron|C9orf173_uc010ncd.1_Intron|C9orf173_uc004cml.1_Missense_Mutation_p.S114F|C9orf173_uc011mev.1_Missense_Mutation_p.S114F			Q8N7X2	CI173_HUMAN	Homo sapiens chromosome 9 open reading frame 173 (C9orf173), mRNA.	115								p.P114P(1)		kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						CCGAGCCCGTCCGTACGAGAG	0.672000														40			9		0	0	1	0	0
LYPLA2	11313	broad.mit.edu	37	1	24120591	24120591	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:24120591C>T	uc001bht.3	+	6	455	c.334C>T	c.(334-336)Cct>Tct	p.P112S		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	112					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GAACGGGATCCCTGCCAATCG	0.607000														88			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89156773	89156773	+	RNA	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:89156773G>A	uc002sti.1	-	0		c.3502C>T			abParts_uc002stj.1_Non-coding_Transcript					Homo sapiens cDNA FLJ46682 fis, clone TRACH3011082, moderately similar to Ig kappa chain V-III region HAH precursor.																		TGAGCTGGAGGACCGCAATAG	0.527000														8			3		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66920910	66920910	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:66920910A>C	uc002jhq.3	-	10	1714	c.1374T>G	c.(1372-1374)gaT>gaG	p.D458E	ABCA8_uc002jhp.3_Missense_Mutation_p.D458E|ABCA8_uc010wqq.2_Missense_Mutation_p.D458E|ABCA8_uc010wqr.2_Missense_Mutation_p.D397E|ABCA8_uc002jhr.3_Missense_Mutation_p.D458E	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	458						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)					AAGGATCGGCATCCATTTCAT	0.448000														134			22		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44255445	44255445	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:44255445G>A	uc003oxi.2	-	1	274	c.118C>T	c.(118-120)Cct>Tct	p.P40S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	40										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGATTGAAGGCTTTGAGAGC	0.557000														66			13		0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46110610	46110610	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:46110610G>A	uc002imy.3	-	5	334	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA.	109					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat|cis-Golgi network				lung(3)|upper_aerodigestive_tract(1)	4						CCACGTATAGGAAGAGGTCAA	0.488000														21			3		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16863164	16863164	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:16863164C>T	uc010rcu.1	-	8	817	c.802G>A	c.(802-804)Gag>Aag	p.E268K	PLEKHA7_uc001mmo.3_Missense_Mutation_p.E268K	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	268	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTCATGTCCTCCTGGGTGTCG	0.592000														80			12		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050303	110050303	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:110050303C>T	uc021org.1	-	0	1232	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	AMIGO1_uc001dxx.4_Missense_Mutation_p.G411E	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	411					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GAGGCTGTCTCCTTGATGGCT	0.557000														67			14		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591807	138591807	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:138591807C>T	uc011kql.2	-	5	3367	c.3318G>A	c.(3316-3318)cgG>cgA	p.R1106R	KIAA1549_uc011kqj.2_Silent_p.R1106R	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1106						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGCCCCGCCGAGGAGTCA	0.443000			O	BRAF	pilocytic astrocytoma									30			4		0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120236408	120236408	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:120236408G>A	uc002tma.3	-	2	506	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	SCTR_uc002tlz.3_5'UTR	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	94					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GTGAGCATCCGGAGGAATCTC	0.622000														57			9		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6166762	6166762	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:6166762G>A	uc001amb.2	-	38	5767	c.5656C>T	c.(5656-5658)Ccc>Tcc	p.P1886S	CHD5_uc001alz.2_Missense_Mutation_p.P743S|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1886					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)		GCCACCGGGGGGATGCGGGAC	0.697000														19			6		0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34951505	34951505	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:34951505C>T	uc002hnd.3	+	1	466	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 11 (DHRS11), mRNA.	84						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						TCTCAGCTATCCGTTCTCAGC	0.537000														81			26		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82879512	82879512	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:82879512C>T	uc001ozx.4	+	7	2480	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L	PCF11_uc010rsu.1_Missense_Mutation_p.P843L	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	712	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATCGTTTTCCACTTAAGCGA	0.363000														53			14		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281227	15281227	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:15281227G>A	uc002nan.3	-	26	5105	c.5029C>T	c.(5029-5031)Cct>Tct	p.P1677S		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1677					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F1676F(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGCCCTCAGGGAACCAGAGG	0.662000														42			6		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039417	55039417	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:55039417C>T	uc003pcl.3	+	0	347	c.32C>T	c.(31-33)cCt>cTt	p.P11L	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	11			P -> T (in dbSNP:rs41271312).		feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		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)			GACTCCCCCCCTTGTCGCAAC	0.567000														101			26		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158624447	158624447	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:158624447G>A	uc001fst.1	-	20	3189	c.2990C>T	c.(2989-2991)aCc>aTc	p.T997I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	997	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTCTTCATGGTGACTTCTCG	0.468000														63			26		0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73808245	73808245	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:73808245C>T	uc002jpm.3	+	3	595	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	UNK_uc021udd.1_Missense_Mutation_p.R123C	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	123							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACCACCTTCGTTACTACAA	0.567000														57			8		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449164	104449164	+	Missense_Mutation	SNP	C	T	T	rs145326290	by1000genomes	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:104449164C>T	uc004bbp.2	-	1	1619	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E340K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	340					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTGTAATTTCGAAAATCCGC	0.517000														38			7		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49224197	49224197	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:49224197G>A	uc002pki.3	-	11	2947	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.3_Missense_Mutation_p.S178L	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	917					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCGCAGGCGCGAGCTCCCCAG	0.652000														26			8		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949808	45949808	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr21:45949808C>T	uc002zfe.1	-	4	729	c.663G>A	c.(661-663)ccG>ccA	p.P221P	TSPEAR_uc010gpv.1_Silent_p.P153P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	221	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity	p.P221P(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CGTCTGAGCCCGGCAGCAGGA	0.682000														22			6		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75301974	75301974	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:75301974T>C	uc001xqj.4	+	19	6425	c.6301T>C	c.(6301-6303)Tgg>Cgg	p.W2101R	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1906					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTAGGTCAGATGGGCAGACCT	0.458000														70			15		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71849902	71849902	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:71849902C>T	uc001ory.1	+	2	242	c.192C>T	c.(190-192)tcC>tcT	p.S64S	FOLR3_uc001orx.1_Intron			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	49					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGGGCCCTCCCCAGGAAGTG	0.527000														11			3		0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														13			3		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116224	9116224	+	RNA	SNP	G	T	T	rs2133214	by1000genomes	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:9116224G>T	uc010rbv.1	+	0		c.315G>T								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		GGTATGGGGGGCATCACAGCC	0.637000														20			3		0.004672	0.00469843	1	1	0
CYP3A7	1551	broad.mit.edu	37	7	99312238	99312238	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:99312238T>C	uc003uru.3	-	7	841	c.738A>G	c.(736-738)atA>atG	p.I246M	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	246					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTAGAAAACTTATAACTTTTC	0.333000														72			12		0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67579591	67579591	+	Silent	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:67579591T>C	uc021xae.1	-	2	274	c.246A>G	c.(244-246)ttA>ttG	p.L82L	SUCLG2_uc010hob.3_5'Flank|SUCLG2_uc003dna.4_Silent_p.L82L	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	p.Q81R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TCTGGGCTTTTAAAACAATTT	0.333000														81			24		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2924840	2924840	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:2924840G>A	uc003bpc.3	+	8	1003	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	CNTN4_uc003bpb.1_Intron|CNTN4_uc021wsg.1_Missense_Mutation_p.E222K|CNTN4_uc003bpd.1_Missense_Mutation_p.E222K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	222					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E222*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGTGATGGGTGAATATGAGCC	0.373000														25			4		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2888335	2888335	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:2888335G>A	uc010ckd.3	+	10	878	c.788G>A	c.(787-789)gGa>gAa	p.G263E	RAP1GAP2_uc010cke.3_Missense_Mutation_p.G248E	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	263	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TTCAAATTCGGAGTCATTTAT	0.413000														185			23		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13933738	13933738	+	Silent	SNP	C	G	G	rs146966218	by1000genomes	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:13933738C>G	uc001avd.3	+	1	415	c.366C>G	c.(364-366)gcC>gcG	p.A122A	PDPN_uc001avc.3_Silent_p.A122A|PDPN_uc009vob.3_Silent_p.A4A|PDPN_uc009voc.3_Silent_p.A4A|PDPN_uc001ave.3_Silent_p.A4A|PDPN_uc001avf.3_Silent_p.A4A	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	46					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TGCCAGGTGCCGAAGATGATG	0.517000														63			6		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480163	73480163	+	Missense_Mutation	SNP	G	A	A	rs140028668		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:73480163G>A	uc003xzb.3	+	1	782	c.194G>A	c.(193-195)cGa>cAa	p.R65Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	65					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)			GGGAAGCTTCGAGACTGCAAC	0.552000														78			14		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670958	49670958	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:49670958G>A	uc002efs.3	-	4	2403	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	ZNF423_uc010vgn.2_Missense_Mutation_p.S585F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	702					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATCCACCGAGGAAAATTGCTT	0.552000														58			8		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57349354	57349354	+	Splice_Site	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:57349354G>A	uc001cyo.2	+	6	987	c.855_splice	c.e6+1	p.K285_splice		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	285	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATAATGAGAAGGTATTCAAAC	0.383000														46			16		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68673685	68673685	+	Missense_Mutation	SNP	C	T	T	rs145237838		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:68673685C>T	uc001ook.1	+	1	337	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	IGHMBP2_uc001ooj.1_Non-coding_Transcript|MRPL21_uc001ooh.3_5'Flank|MRPL21_uc001ooi.3_5'Flank|MRPL21_uc010rqe.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	79					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCAGCTCTTCCCAGTAACAG	0.537000														63			18		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124090761	124090761	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:124090761C>T	uc001lgc.1	+	11	1325	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	BTBD16_uc001lgd.1_Silent_p.N357N	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	358										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)				TTACAGTCAACCATTACCACG	0.463000														59			8		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938736	119938736	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:119938736G>A	uc003yon.4	-	3	1137	c.814C>T	c.(814-816)Caa>Taa	p.Q272*	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	272	Death 2.				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)			ATCATACCTTGGATGATCTTC	0.353000														87			7		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117568357	117568357	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:117568357C>T	uc010oxb.1	+	7	2713	c.2655C>T	c.(2653-2655)taC>taT	p.Y885Y	CD101_uc009whd.3_Silent_p.Y885Y|CD101_uc010oxc.1_Silent_p.Y885Y|CD101_uc010oxd.1_Silent_p.Y823Y	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	885	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCACTGTTACCGTTCATCCT	0.522000														83			17		0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82560193	82560193	+	Silent	SNP	T	C	C	rs148080484	byFrequency	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:82560193T>C	uc001ozs.3	-	5	932	c.819A>G	c.(817-819)caA>caG	p.Q273Q	PRCP_uc001ozr.3_Silent_p.Q294Q	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	273	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTTTCAAATGTTGGATGTCCT	0.453000														92			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222866	140222866	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:140222866C>T	uc003lhs.2	+	0	1960	c.1960C>T	c.(1960-1962)Cat>Tat	p.H654Y	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_Missense_Mutation_p.H654Y	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	665	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G653S(1)		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)			GGTGAAGGATCATGGTGAACC	0.652000														78			15		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161160173	161160173	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:161160173G>A	uc003qtm.4	+	15	2063	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	651	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCATGTTCAGGAAATAGAAGT	0.498000														103			23		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8739874	8739874	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:8739874A>G	uc002glq.1	-	6	691	c.451T>C	c.(451-453)Tac>Cac	p.Y151H	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	151					platelet activation	cytosol											CTCTCCTGGTAGGGATACAGC	0.517000														37			6		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118344687	118344687	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:118344687C>T	uc001pta.3	+	2	2836	c.2813C>T	c.(2812-2814)tCa>tTa	p.S938L	MLL_uc001ptb.3_Missense_Mutation_p.S938L|MLL_uc001psz.1_Missense_Mutation_p.S971L|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	938					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAGTCTTCATCACATGATTCT	0.413000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									73			17		0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47614411	47614411	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr21:47614411G>A	uc002zij.3	-	19	2061	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	LSS_uc002zil.2_Missense_Mutation_p.A661V|LSS_uc011afv.1_Missense_Mutation_p.A650V|LSS_uc002zik.2_Missense_Mutation_p.A581V	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	661					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCACCGAACGGCCATCAGCCC	0.617000														23			8		0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51971282	51971282	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:51971282G>A	uc003dbw.1	-	5	482	c.443C>T	c.(442-444)tCt>tTt	p.S148F		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	148					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ACATGTGATAGAGAGCTGGTG	0.577000														70			17		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123298	47123298	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:47123298G>A	uc002iom.3	+	12	1776	c.1442G>A	c.(1441-1443)gGt>gAt	p.G481D	IGF2BP1_uc010dbj.3_Missense_Mutation_p.G342D	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	481	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						AACTTCTTTGGTCCCAAGGAG	0.498000														36			19		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658822	20658822	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:20658822C>T	uc001mqd.3	+	11	2115	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	SLC6A5_uc009yic.3_Silent_p.F379F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	614					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTTGTTTCTTCATCATGGGTT	0.527000														84			14		0	0	1	0	0
PTP4A2	8073	broad.mit.edu	37	1	32377409	32377409	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:32377409C>T	uc001bty.2	-	3	1202	c.208G>A	c.(208-210)Gga>Aga	p.G70R	PTP4A2_uc001btx.2_Missense_Mutation_p.G70R|PTP4A2_uc010ogs.2_Missense_Mutation_p.G39R	NM_080391	NP_536316	Q12974	TP4A2_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 2 (PTP4A2), transcript variant 1, mRNA.	70						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				GGTGGAGCTCCATCATCAAAT	0.383000														76			7		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89670141	89670141	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:89670141C>T	uc003hse.1	-	16	2331	c.2123G>A	c.(2122-2124)tGg>tAg	p.W708*	FAM13A_uc003hsa.1_Nonsense_Mutation_p.W179*|FAM13A_uc003hsb.1_Nonsense_Mutation_p.W382*|FAM13A_uc003hsd.1_Nonsense_Mutation_p.W382*|FAM13A_uc003hsc.1_Nonsense_Mutation_p.W368*|FAM13A_uc011cdq.1_Nonsense_Mutation_p.W354*|FAM13A_uc003hsf.1_Nonsense_Mutation_p.W294*|FAM13A_uc003hsg.1_Nonsense_Mutation_p.W179*|FAM13A_uc010ikr.1_Nonsense_Mutation_p.W204*	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	708					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTCATTTGTCCATTTCAGAAC	0.468000														263			56		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91465117	91465117	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:91465117T>G	uc001kgs.1	+	1	138	c.66T>G	c.(64-66)atT>atG	p.I22M	KIF20B_uc001kgr.1_Missense_Mutation_p.I22M	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	22					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTGACCCAATTGCAAGGCCTT	0.358000														150			22		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3030098	3030098	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:3030098C>T	uc003bpc.3	+	13	1767	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	CNTN4_uc003bpb.1_Silent_p.T148T|CNTN4_uc021wsg.1_Silent_p.T476T|CNTN4_uc003bpd.1_Silent_p.T476T|CNTN4_uc003bpe.3_Silent_p.T148T|CNTN4_uc003bpf.3_Silent_p.T148T	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	476	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAGTTATACCTGTATAGCCA	0.363000														66			17		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84118606	84118606	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:84118606G>A	uc021pvc.1	+	1	962	c.935G>A	c.(934-936)gGa>gAa	p.G312E	NRG3_uc010qlz.1_Missense_Mutation_p.G312E|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.G312E|NRG3_uc001kcp.2_Missense_Mutation_p.G91E|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Missense_Mutation_p.G91E|NRG3_uc021pve.1_Missense_Mutation_p.G116E|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Missense_Mutation_p.G116E|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.G142E|NRG3_uc021pvk.1_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	312	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.G312*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCCTGACCGGATCCCATAAA	0.557000														56			15		0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95220697	95220697	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:95220697C>T	uc003hte.1	-	5	625	c.534G>A	c.(532-534)cgG>cgA	p.R178R		NM_014485	NP_055300	O60760	HPGDS_HUMAN	Homo sapiens hematopoietic prostaglandin D synthase (HPGDS), mRNA.	178	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	GGACTTTCTTCCGTAAAGTCA	0.468000														54			19		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219513367	219513367	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:219513367G>A	uc002vin.3	-	5	1700	c.1264C>T	c.(1264-1266)Cta>Tta	p.L422L	ZNF142_uc002vil.3_Silent_p.L383L|ZNF142_uc010fvt.3_Silent_p.L259L|ZNF142_uc002vim.3_Silent_p.L259L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		cccgtatgtagaagcatgtgt	0.448000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			7		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21721855	21721855	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:21721855G>A	uc001rfb.3	-	4	1022	c.767C>T	c.(766-768)aCc>aTc	p.T256I		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	256					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGAAACCGTGGTGAACACGTG	0.438000														121			21		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576797	158576797	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:158576797G>A	uc010pio.2	+	0	569	c.569G>A	c.(568-570)gGa>gAa	p.G190E		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	190					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)					CTAGCCTGTGGAGATACAGGC	0.493000														124			49		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404551	404551	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:404551G>A	uc021qbk.1	+	13	2450	c.2421G>A	c.(2419-2421)gaG>gaA	p.E807E	PKP3_uc001lpc.3_Silent_p.E792E	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	792					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCGGAAGGAGGACTTCCTGG	0.632000														33			6		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627269	38627269	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:38627269G>A	uc021wvo.1	-	14	2752	c.2700C>T	c.(2698-2700)atC>atT	p.I900I	SCN5A_uc021wvk.1_Silent_p.I900I|SCN5A_uc021wvl.1_Silent_p.I900I|SCN5A_uc021wvm.1_Silent_p.I900I|SCN5A_uc021wvn.1_Silent_p.I900I|SCN5A_uc021wvp.1_Silent_p.I900I|SCN5A_uc021wvq.1_Silent_p.I900I|SCN5A_uc021wvr.1_Silent_p.I900I|SCN5A_uc021wvs.1_Silent_p.I900I|SCN5A_uc021wvt.1_Silent_p.I900I|SCN5A_uc021wvu.1_Silent_p.I900I|SCN5A_uc021wvv.1_Silent_p.I900I|SCN5A_uc021wvj.1_Silent_p.I766I|SCN5A_uc021wvi.1_Silent_p.I766I|SCN5A_uc021wvw.1_Silent_p.I511I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	900					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)	ACATGGTCTCGATCCACTCTC	0.542000														83			18		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23937644	23937644	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:23937644C>T	uc002nrk.4	-	2	349	c.207G>A	c.(205-207)agG>agA	p.R69R	ZNF681_uc002nrl.4_5'UTR|ZNF681_uc002nrj.4_5'UTR|ZNF681_uc002nrm.1_Non-coding_Transcript	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CGGCCACCATCCTATGTCTCT	0.408000														107			18		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152697632	152697632	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:152697632G>A	uc021zhb.1	-	55	9431	c.9208C>T	c.(9208-9210)Cga>Tga	p.R3070*	SYNE1_uc003qot.4_Nonsense_Mutation_p.R3077*|SYNE1_uc003qou.4_Nonsense_Mutation_p.R3070*|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Nonsense_Mutation_p.R148*|SYNE1_uc010kjb.1_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3070					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.R3070Q(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCCTTTCGAAATCTTTGC	0.388000										HNSCC(10;0.0054)				57			18		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183099217	183099217	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:183099217C>T	uc002uos.3	-	4	491	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	PDE1A_uc010zfp.1_Missense_Mutation_p.R32Q|PDE1A_uc002uoq.1_Missense_Mutation_p.R136Q|PDE1A_uc010zfq.1_Missense_Mutation_p.R136Q|PDE1A_uc002uor.3_Missense_Mutation_p.R120Q|PDE1A_uc002uou.3_Missense_Mutation_p.R102Q	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	136					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ATATGTTTTTCGGTACATTCT	0.269000														81			12		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19185996	19185996	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:19185996G>A	uc001bba.1	-	0	160	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	53					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCACCTGCAGGAAGTTAAGGT	0.607000														95			19		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837173	196837173	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:196837173C>T	uc002utj.4	-	15	1952	c.1851G>A	c.(1849-1851)gtG>gtA	p.V617V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	617	Stem (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						CAGTTACCTCCACTTTCTGAA	0.408000														79			11		0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167042665	167042665	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:167042665C>T	uc001gea.1	-	1	499	c.155G>A	c.(154-156)cGa>cAa	p.R52Q		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	52	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AAGTCCCTCTCGACTGGAGGT	0.522000														72			10		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50149724	50149724	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:50149724C>T	uc002itv.4	-	2	845	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	CA10_uc002itw.4_Missense_Mutation_p.G31S|CA10_uc002itx.4_Missense_Mutation_p.G31S|CA10_uc002ity.4_Missense_Mutation_p.G31S|CA10_uc002itz.2_Missense_Mutation_p.G31S	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	31					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GCCCACCAGCCTTCATGGATT	0.398000														82			22		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43258631	43258631	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:43258631C>T	uc002ouo.2	-	4	1195	c.1097G>A	c.(1096-1098)tGg>tAg	p.W366*	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Nonsense_Mutation_p.W366*|PSG8_uc010ein.3_Nonsense_Mutation_p.W244*|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	366	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTAATTGTCCAAGAATACTG	0.458000														344			57		0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10449604	10449604	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:10449604G>A	uc002mob.2	-	1	152	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_Intron	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	33					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			ACCCGCAAAAGGAACTCCTGC	0.547000														48			15		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33143391	33143391	+	Missense_Mutation	SNP	G	A	A	rs150877886	byFrequency	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:33143391G>A	uc003ocx.1	-	29	2564	c.2336C>T	c.(2335-2337)cCg>cTg	p.P779L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P693L|COL11A2_uc003ocz.1_Missense_Mutation_p.P672L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	779	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCTCCAGTCGGTCCAGTGCG	0.647000														59			11		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306646	306646	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:306646G>A	uc001qhz.3	-	10	1636	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Silent_p.F324F|SLC6A12_uc001qib.3_Silent_p.F324F|SLC6A12_uc009zdh.2_Silent_p.F324F	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	324					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)			CACTGTTCAGGAAGCAGAGGG	0.572000														25			6		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57192207	57192207	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:57192207C>T	uc001cym.4	-	15	2249	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	615										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						TCTTTTTTTTCCTTTGGTGTC	0.353000														98			40		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487265	108487265	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:108487265G>A	uc010ywk.2	+	19	2887	c.2805G>A	c.(2803-2805)aaG>aaA	p.K935K	RGPD4_uc002tdu.3_Silent_p.K122K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	935					intracellular transport		binding	p.E934*(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATCAAGAAAAGGAAAGTGAAA	0.408000														368			56		0	0	1	0	0
APOA1	335	broad.mit.edu	37	11	116707050	116707050	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:116707050T>C	uc001ppv.1	-	3	316	c.278A>G	c.(277-279)cAg>cGg	p.Q93R		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	93	10 X approximate tandem repeats.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCAGAACTCCTGGGTCACAGG	0.587000														75			11		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911850	46911850	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:46911850G>A	uc001ndn.4	-	13	2136	c.1893C>T	c.(1891-1893)caC>caT	p.H631H		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	631					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCTTACGGTGACTCCCAT	0.597000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			14		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72674276	72674276	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:72674276C>T	uc011mqk.2	+	2	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AAGAAAATCTCCCAGTTTGAG	0.448000														22			8		0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135263535	135263535	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:135263535A>G	uc004cbl.3	-	7	2372	c.2303T>C	c.(2302-2304)cTt>cCt	p.L768P	TTF1_uc004cbm.3_Missense_Mutation_p.L253P|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	768					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCTTTCAATAAGGCTGACCTT	0.433000														71			6		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457804	45457804	+	RNA	SNP	T	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:45457804T>A	uc001rol.3	-	0		c.1391A>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CATCTGTGATTTCTGCTGCTT	0.443000														120			25		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46799755	46799755	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:46799755G>A	uc001ndi.2	-	21	2808	c.2682C>T	c.(2680-2682)atC>atT	p.I894I	CKAP5_uc009ylg.1_Silent_p.I780I|CKAP5_uc001ndj.2_Silent_p.I894I	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	894					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TATTCGGTTGGATAAATTTTG	0.378000														123			24		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128480	30128480	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:30128480C>T	uc003npo.3	-	0	232	c.156G>A	c.(154-156)gaG>gaA	p.E52E	TRIM10_uc003npn.2_Silent_p.E52E|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	52						cytoplasm	zinc ion binding			ovary(1)	1						TAGGGGACTCCTCCAGGTCTG	0.622000														180			23		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61585198	61585198	+	Splice_Site	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr18:61585198G>A	uc010xev.2	+	4	325	c.235_splice	c.e4-1	p.E79_splice	SERPINB2_uc010xew.2_Splice_Site_p.E79_splice	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	89					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTCTTTTAAAGGAATTCAACT	0.338000														32			6		0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100017756	100017756	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:100017756C>T	uc001kpa.1	-	6	1238	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	363	SRCR 3.					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)		AGCCGGGCCCCAAAGAGGGCC	0.642000														68			12		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42293128	42293128	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:42293128C>T	uc003bbi.3	+	13	2737	c.2568C>T	c.(2566-2568)ccC>ccT	p.P856P	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	856					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTATGAGCCCCCCACTCTCCA	0.527000														28			4		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475859	120475859	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:120475859G>A	uc004bjz.3	+	2	1744	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	TLR4_uc004bkb.3_Missense_Mutation_p.E285K|TLR4_uc004bka.3_Missense_Mutation_p.E445K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	485					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCTTTCCAGGAAAACTTCCT	0.448000														75			20		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71471905	71471905	+	Missense_Mutation	SNP	G	A	A	rs146167261	byFrequency	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:71471905G>A	uc003hfl.3	+	12	903	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	268					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.G268W(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTTCCAGGGCGGGAGAGAAGA	0.488000														62			17		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938757	89938757	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:89938757G>A	uc003kju.3	+	12	2548	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	818					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)		AGAGCCAAGAGATAGCAATGA	0.433000														92			19		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026826	93026826	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:93026826G>A	uc022axs.1	-	3	813	c.626C>T	c.(625-627)aCc>aTc	p.T209I	RUNX1T1_uc003yfc.2_Missense_Mutation_p.T123I|RUNX1T1_uc010mam.3_Missense_Mutation_p.T123I|RUNX1T1_uc003yfe.2_Missense_Mutation_p.T113I|RUNX1T1_uc003yfd.3_Missense_Mutation_p.T150I|RUNX1T1_uc022axo.1_Missense_Mutation_p.T150I|RUNX1T1_uc010mao.3_Missense_Mutation_p.T123I|RUNX1T1_uc011lgi.2_Missense_Mutation_p.T161I|RUNX1T1_uc022axp.1_Missense_Mutation_p.T150I|RUNX1T1_uc022axq.1_Missense_Mutation_p.T150I|RUNX1T1_uc022axr.1_Missense_Mutation_p.T150I|RUNX1T1_uc022axt.1_Missense_Mutation_p.T150I|RUNX1T1_uc022axu.1_Missense_Mutation_p.T130I|RUNX1T1_uc022axv.1_Missense_Mutation_p.T150I|RUNX1T1_uc003yfb.2_Missense_Mutation_p.T113I|RUNX1T1_uc003yff.1_Missense_Mutation_p.T113I|RUNX1T1_uc003yfg.2_Missense_Mutation_p.T113I	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	150	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAGAACGAGGGTGCGAACTCT	0.502000														96			14		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944143	55944143	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:55944143T>C	uc010rjb.2	+	0	50	c.50T>C	c.(49-51)tTg>tCg	p.L17S		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTTTTGGGATTGACAGATCAT	0.358000														164			34		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196671552	196671552	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:196671552G>A	uc002utj.4	-	53	10189	c.10088C>T	c.(10087-10089)cCa>cTa	p.P3363L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3363					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						CTCATGGTGTGGTTCCTAAAA	0.323000														40			12		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45169849	45169849	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:45169849C>T	uc010skz.1	-	8	1122	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	NELL2_uc001rof.3_Missense_Mutation_p.E282K|NELL2_uc001rog.2_Missense_Mutation_p.E283K|NELL2_uc001roh.2_Missense_Mutation_p.E283K|NELL2_uc009zkd.2_Missense_Mutation_p.E282K|NELL2_uc010sla.1_Missense_Mutation_p.E306K|NELL2_uc001roi.1_Missense_Mutation_p.E283K|NELL2_uc010slb.1_Missense_Mutation_p.E282K|NELL2_uc001roj.2_Missense_Mutation_p.E283K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	283	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GACTCAAATTCTCGGTAGGTG	0.458000														60			6		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3261843	3261843	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:3261843G>A	uc004crg.4	-	1	189	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	11						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGCACCACGGAGAGGGCCCC	0.622000														7			6		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52942551	52942551	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:52942551C>T	uc001sao.3	-	3	817	c.747G>A	c.(745-747)gtG>gtA	p.V249V		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	249	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCTGCAGTTCCACCTTATTGG	0.547000														94			15		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109959293	109959293	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:109959293C>T	uc001top.3	+	20	2904	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	UBE3B_uc001toq.3_Silent_p.I767I|UBE3B_uc001tos.3_Silent_p.I194I|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.I767I	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	767	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CATCCTACATCCATGAGAATT	0.493000														47			9		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86228062	86228062	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:86228062C>T	uc002blv.1	+	15	5417	c.5247C>T	c.(5245-5247)ttC>ttT	p.F1749F	AKAP13_uc002blt.1_Silent_p.F1731F|AKAP13_uc002blu.1_Silent_p.F1753F|AKAP13_uc010bnf.1_Silent_p.F371F|AKAP13_uc002blw.1_Silent_p.F216F|AKAP13_uc002blx.1_5'UTR|AKAP13_uc010bne.1_Silent_p.F402F	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1749					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTCGTACATTCAGCTACATCA	0.408000														149			31		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50824031	50824031	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:50824031G>A	uc002pru.1	-	2	2284	c.1989C>T	c.(1987-1989)ccC>ccT	p.P663P	KCNC3_uc002prt.1_Silent_p.P299P	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	663					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GATCCCCATTGGGGCGAGGAT	0.622000														33			6		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54802730	54802730	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:54802730G>A	uc002qfd.3	-	4	803	c.711C>T	c.(709-711)gcC>gcT	p.A237A	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.A173A	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.	236	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)		TCTCCCCAGGGGCCACGACAG	0.597000														52			10		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423569	26423569	+	Silent	SNP	C	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:26423569C>A	uc003abz.1	+	42	7879	c.7629C>A	c.(7627-7629)ccC>ccA	p.P2543P	MYO18B_uc003aca.1_Silent_p.P2424P|MYO18B_uc010guy.1_Silent_p.P2425P|MYO18B_uc010guz.1_Silent_p.P2423P|MYO18B_uc011aka.1_Silent_p.P1697P|MYO18B_uc011akb.1_Silent_p.P2056P|MYO18B_uc010gva.1_Silent_p.P526P|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2543						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACGTCCCCCGAGCGGAGAG	0.552000														18			7		2.0095e-06	2.04108e-06	1	1	0
CD300LF	146722	broad.mit.edu	37	17	72699182	72699182	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:72699182C>T	uc002jlg.3	-	2	541	c.438G>A	c.(436-438)ttG>ttA	p.L146L	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Silent_p.L149L|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_Silent_p.L146L|CD300LF_uc002jli.3_Silent_p.L149L|CD300LF_uc010wra.2_Silent_p.L161L|CD300LF_uc002jlj.1_Silent_p.L164L	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	146						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACCTGTTGTCCAAGTGGTGGC	0.552000														56			18		0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	35281510	35281510	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr21:35281510G>A	uc002ytl.3	-	3	295	c.204C>T	c.(202-204)atC>atT	p.I68I	DONSON_uc002ysn.1_5'UTR	NM_001697	NP_001688	Q9NYP3	DONS_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA.	53					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GTTCCTTCAGGATTTGCTGAA	0.368000														87			16		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40398385	40398385	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:40398385G>A	uc002omp.4	-	13	6590	c.6582C>T	c.(6580-6582)ttC>ttT	p.F2194F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2194	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGCGCACGAAGCTGTCCC	0.682000														42			16		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749631	142749631	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:142749631C>T	uc011ksv.2	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCAATTTTTCCCTGCTGGAG	0.493000														176			30		0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129417	6129417	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:6129417C>T	uc010qzx.2	+	0	409	c.409C>T	c.(409-411)Cag>Tag	p.Q137*		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCCCTCTTCAGTACCCCTC	0.488000														114			13		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247144	39247144	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:39247144C>T	uc003thb.2	+	4	579	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	POU6F2_uc022acb.1_Missense_Mutation_p.L146F|POU6F2_uc010kxo.3_Missense_Mutation_p.L138F	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	146					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						AACAGCGAATCTCACCAACAT	0.562000														70			9		0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834383	178834383	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:178834383C>T	uc001gma.3	-	2	1005	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.V177M|ANGPTL1_uc010pnc.1_Missense_Mutation_p.V99M	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	177						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GCGTATTTCACCTCTAGTTCC	0.403000														48			13		0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97328853	97328853	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:97328853C>T	uc001tew.3	+	5	756	c.610C>T	c.(610-612)Cca>Tca	p.P204S	NEDD1_uc001teu.4_Missense_Mutation_p.P197S|NEDD1_uc001tev.4_Missense_Mutation_p.P197S|NEDD1_uc010svc.2_Missense_Mutation_p.P108S|NEDD1_uc001tex.3_Missense_Mutation_p.P108S	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	197					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAGTCAGAGTCCATACCATAA	0.413000														125			24		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106567	55106567	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:55106567G>A	uc002qgh.1	+	4	543	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.A121T	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	121	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCTCCTAGGAGCCTACATCAA	0.577000														122			13		0	0	1	0	0
DDA1	79016	broad.mit.edu	37	19	17425186	17425186	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:17425186C>T	uc002ngd.3	+	2	251	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S		NM_024050	NP_076955	Q9BW61	DDA1_HUMAN	Homo sapiens DET1 and DDB1 associated 1 (DDA1), mRNA.	42								p.Y41*(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCGCGAGTACCCGTCTGAACA	0.612000														56			8		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197398637	197398637	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:197398637C>T	uc001gtz.3	+	7	2944	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F	CRB1_uc010poz.2_Missense_Mutation_p.S888F|CRB1_uc009wza.3_Missense_Mutation_p.S800F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.S393F|CRB1_uc001gub.1_Missense_Mutation_p.S561F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	912	EGF-like 13.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCTCCTGTTCCTGTCCTGCC	0.542000														108			37		0	0	1	0	0
OTUB1	55611	broad.mit.edu	37	11	63764668	63764668	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:63764668C>T	uc001nyf.1	+	5	1174	c.570C>T	c.(568-570)ttC>ttT	p.F190F	OTUB1_uc001nyg.1_Silent_p.F233F|OTUB1_uc010rna.1_Silent_p.F199F|OTUB1_uc009ypb.1_Silent_p.F160F	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 1, mRNA.	190	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GCAAGTTCTTCGAGCACTTCA	0.627000														81			18		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143135	55143135	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:55143135C>T	uc002qgj.3	+	4	595	c.255C>T	c.(253-255)atC>atT	p.I85I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.I85I|LILRB1_uc002qgk.3_Silent_p.I85I|LILRB1_uc002qgm.3_Silent_p.I85I|LILRB1_uc010erq.3_Silent_p.I85I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	85	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGTTCCCCATCCCATCCATCA	0.557000										HNSCC(37;0.09)				102			20		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249636	52249636	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:52249636G>A	uc021uyn.1	-	2	758	c.612C>T	c.(610-612)atC>atT	p.I204I	FPR1_uc002pxq.3_Silent_p.I204I|FPR1_uc021uyo.1_Silent_p.I204I	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	204					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGATGAACCGGATGATGCCTC	0.512000														72			22		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625607	154625607	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:154625607G>A	uc003inq.3	+	2	1767	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	TLR2_uc003inr.3_Silent_p.K516K|TLR2_uc003ins.3_Silent_p.K516K|TLR2_uc021xtl.1_Silent_p.K516K	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	516					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CGTTTTCTAAGGAGCAACTTG	0.408000														77			14		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127789729	127789729	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:127789729C>T	uc001ljk.2	-	8	1245	c.832G>A	c.(832-834)Gac>Aac	p.D278N	ADAM12_uc010qul.1_Missense_Mutation_p.D229N|ADAM12_uc001ljm.3_Missense_Mutation_p.D278N|ADAM12_uc001ljn.3_Missense_Mutation_p.D275N|ADAM12_uc001ljl.4_Missense_Mutation_p.D275N	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	278	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTGAATGGGTCCTGACTTACA	0.483000														49			8		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20568969	20568969	+	Missense_Mutation	SNP	C	T	T	rs141844605		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:20568969C>T	uc003gpr.1	+	26	3014	c.2810C>T	c.(2809-2811)cCa>cTa	p.P937L	SLIT2_uc003gps.1_Missense_Mutation_p.P929L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	937	EGF-like 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATAGTGATCCAGTTGACTTT	0.383000														170			27		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025070	84025070	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:84025070A>C	uc003pjy.3	-	5	928	c.663T>G	c.(661-663)taT>taG	p.Y221*	ME1_uc011dzb.2_Nonsense_Mutation_p.Y146*|ME1_uc011dzc.2_Nonsense_Mutation_p.Y55*	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	221					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAAAATCATCATATTCAGAAC	0.299000														95			18		0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54677874	54677874	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:54677874G>A	uc002qdq.3	-	8	1549	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	TMC4_uc002qdo.3_5'Flank|TMC4_uc010erf.3_5'Flank|MBOAT7_uc010erg.3_Missense_Mutation_p.S112F|MBOAT7_uc010yem.2_Missense_Mutation_p.S410F|MBOAT7_uc002qdr.3_Missense_Mutation_p.S428F|MBOAT7_uc002qds.3_Missense_Mutation_p.S355F|MBOAT7_uc010yen.2_Missense_Mutation_p.S355F	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	428					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGTAGATGGAGGCCCAGTA	0.642000														73			11		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83455798	83455798	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:83455798C>T	uc002bjd.2	-	1	512	c.345G>A	c.(343-345)agG>agA	p.R115R	FSD2_uc010uol.1_Silent_p.R115R|FSD2_uc010uom.1_Silent_p.R115R	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	115										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTCTCTGCTCCCTGGCTGGGT	0.542000														88			15		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103301844	103301844	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:103301844G>A	uc022ajr.1	-	11	1580	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	RELN_uc022ajq.1_Silent_p.L474L|RELN_uc010liz.3_Silent_p.L474L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	474					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)		TAAAACCTCAGGTTCCCATAA	0.433000														58			15		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377075	49377075	+	Silent	SNP	T	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:49377075T>C	uc002pky.4	+	1	854	c.585T>C	c.(583-585)gaT>gaC	p.D195D		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	195	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AGGAGGACGATGAAGAAGCTG	0.532000														66			7		0	0	1	0	0
FOXH1	8928	broad.mit.edu	37	8	145700115	145700115	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:145700115C>T	uc003zdc.3	-	2	1183	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	202					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCACCGCCTCCTCCCCACTG	0.692000														12			3		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31596796	31596796	+	Silent	SNP	G	A	A	rs140651875	byFrequency	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:31596796G>A	uc002rnv.1	-	15	1708	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	543					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.F543F(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTGCACTGGCGAAAGTGGGGT	0.463000														23			6		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29640714	29640714	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:29640714G>A	uc001rix.1	-	6	804	c.804C>T	c.(802-804)ccC>ccT	p.P268P		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	268	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					tgtttcttaCGGGAACTGAAC	0.468000														19			4		0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37353503	37353503	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:37353503G>A	uc010ynh.2	-	10	1394	c.837C>T	c.(835-837)ggC>ggT	p.G279G	EIF2AK2_uc010fab.2_Intron|EIF2AK2_uc010yng.2_Silent_p.G279G|EIF2AK2_uc010fac.3_Silent_p.G279G|EIF2AK2_uc010fad.2_Silent_p.G279G	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	279	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TGAAAACTTGGCCAAATCCAC	0.313000														87			15		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83938545	83938545	+	Splice_Site	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:83938545C>T	uc003pjy.3	-	10	1397	c.1132_splice	c.e10+1	p.G378_splice	ME1_uc011dzb.2_Splice_Site_p.G303_splice|ME1_uc011dzc.2_Splice_Site_p.G212_splice	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	378					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAATGCTTACCTATGAGGGCA	0.368000														127			22		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124596401	124596401	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:124596401A>G	uc001lgs.3	-	6	1714	c.763T>C	c.(763-765)Tac>Cac	p.Y255H	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Missense_Mutation_p.Y255H	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	255	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AATCCCCGGTAAGAATTGGCA	0.423000														133			31		0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4889566	4889566	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:4889566G>A	uc010cku.2	-	1	433	c.21C>T	c.(19-21)tcC>tcT	p.S7S	CAMTA2_uc002gag.2_Silent_p.S7S|CAMTA2_uc002gah.2_5'UTR|CAMTA2_uc002gai.2_Intron|CAMTA2_uc010vsu.2_Intron	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	472					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGGCCGGGGGGAGGGGGAGT	0.582000														13			4		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816234	1816234	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:1816234C>T	uc010uvl.2	+	21	2763	c.2643C>T	c.(2641-2643)acC>acT	p.T881T	MAPK8IP3_uc002cmk.3_Silent_p.T880T|MAPK8IP3_uc002cml.3_Silent_p.T870T|MAPK8IP3_uc021tah.1_Silent_p.T874T	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	880					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGTGGCCACCATCGCCAACG	0.647000														53			11		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886824	123886824	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:123886824G>A	uc010sac.2	+	0	543	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	181			P -> S (in dbSNP:rs1893764).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181P(4)|p.A180T(1)|p.P181S(1)		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)		GTGACGCACCGCCCATCCTGA	0.542000														168			41		0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112055	39112055	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:39112055C>T	uc003awg.3	+	2	602	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	150					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TTACCTGGTCCGGAAACGAGT	0.582000														23			5		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40642347	40642348	+	Missense_Mutation	DNP	GG	AA	AA	rs7282000	byFrequency	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr21:40642347_40642348GG>AA	uc002yxk.2	-	13	1551_1552	c.1256_1257CC>TT	c.(1255-1257)tcc>tTT	p.S419F	BRWD1_uc021wjf.1_Missense_Mutation_p.S419F|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.S139F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTCCTCTTCGGAAGATAAGTC	0.322000														11			3		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758671	121758671	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:121758671C>T	uc003ksw.1	+	3	445	c.239C>T	c.(238-240)tCg>tTg	p.S80L	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S80L|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S127L|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.S80L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	80					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGCGGGTTTCGCCACTGAAA	0.478000														36			11		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919445	48919445	+	Missense_Mutation	SNP	G	A	A	rs140344146	by1000genomes	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:48919445G>A	uc010slu.2	+	0	31	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CACCATCACCGAGTTCCTCCT	0.493000														138			25		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431764	26431764	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:26431764C>T	uc011dkl.1	+	5	1712	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		TTTAGTAGTTCCTTTGGTTGT	0.502000														134			25		0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90133292	90133292	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:90133292C>T	uc010cje.3	-	3	348	c.328G>A	c.(328-330)Gga>Aga	p.G110R	PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjh.1_Non-coding_Transcript	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	110						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCTGTTCTCCTCTGAAGGCC	0.388000														192			35		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829085	96829085	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:96829085C>T	uc001kkb.3	-	0	170	c.75G>A	c.(73-75)agG>agA	p.R25R	CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	25					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCTTCCTTCTCCTACAGCTCT	0.433000														70			21		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249693	238249693	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:238249693G>A	uc002vwl.2	-	37	8151	c.7866C>T	c.(7864-7866)ttC>ttT	p.F2622F	COL6A3_uc002vwo.2_Silent_p.F2416F|COL6A3_uc010znj.1_Silent_p.F2015F|COL6A3_uc002vwj.2_Silent_p.F3F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2622	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTCTAAGATGAAAGCCATGT	0.532000														120			26		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24199186	24199186	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:24199186C>T	uc003xdy.3	+	15	1829	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.F269F	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	582	Cys-rich.				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)		TAGTGACTTTCCTGACATGTA	0.423000														127			23		0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407273	185407273	+	Missense_Mutation	SNP	G	A	A	rs11558676		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:185407273G>A	uc003fpo.3	-	5	626	c.547C>T	c.(547-549)Cct>Tct	p.P183S	IGF2BP2_uc010hyi.3_Missense_Mutation_p.P126S|IGF2BP2_uc010hyj.3_Missense_Mutation_p.P120S|IGF2BP2_uc010hyk.3_Missense_Mutation_p.P47S|IGF2BP2_uc010hyl.3_Missense_Mutation_p.P120S|IGF2BP2_uc003fpp.3_Missense_Mutation_p.P183S|IGF2BP2_uc003fpq.3_Missense_Mutation_p.P188S	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	183					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.A182D(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GTGCCCCCAGGGGCGTGGCCT	0.612000														94			15		0	0	1	0	0
KIAA1704	55425	broad.mit.edu	37	13	45589219	45589219	+	Splice_Site	SNP	G	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr13:45589219G>C	uc001uzq.3	+	5	643	c.540_splice	c.e5+1	p.D180_splice	KIAA1704_uc010tfo.1_Splice_Site|KIAA1704_uc001uzr.1_Splice_Site_p.D180_splice|KIAA1704_uc001uzs.3_Splice_Site_p.D57_splice|KIAA1704_uc001uzt.3_Splice_Site_p.D31_splice	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	180										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		AGGAGATGATGTAAGTTTTAA	0.274000														42			6		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7569240	7569240	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:7569240G>A	uc002mgm.2	+	3	866	c.725G>A	c.(724-726)gGa>gAa	p.G242E	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	242										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ATCAGCTATGGATCAACGTGT	0.597000														59			9		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691918	18691918	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:18691918C>T	uc001bau.2	+	5	1125	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	IGSF21_uc001bav.2_Missense_Mutation_p.R69C	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	248						extracellular region		p.R248G(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCGCCCCTCCCGTGGCCTGAC	0.637000														129			24		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257502	52257502	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:52257502G>A	uc003ddb.3	-	4	1331	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	TLR9_uc003dda.2_Missense_Mutation_p.P277L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	277					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAAGGTATCGGGATGTAGCTG	0.617000														39			8		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680545	63680545	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:63680545G>T	uc011kdn.2	+	3	1116	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGGCACATAAGAGAATTCATA	0.373000														35			9		0.00448238	0.00451413	1	1	0
ABCA10	10349	broad.mit.edu	37	17	67188746	67188746	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:67188746G>A	uc010dfa.1	-	16	2708	c.1829C>T	c.(1828-1830)tCt>tTt	p.S610F	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.S211F	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	610	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGAAACAAAGATGATCCTGC	0.318000														123			12		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485665	36485665	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:36485665C>T	uc002hpz.3	-	10	3808	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1263						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGCAGATTTCGGCCTTGTTG	0.607000														58			23		0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5087375	5087375	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:5087375G>A	uc010cla.1	-	1	333	c.177C>T	c.(175-177)ctC>ctT	p.L59L	ZNF594_uc021tol.1_Silent_p.L59L	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	59					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						CTTGGGAAGGGAGATGTCTCA	0.428000														107			13		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32811929	32811929	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr22:32811929G>A	uc003amn.2	-	13	1374	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	BPIFC_uc010gwo.2_Silent_p.F215F|BPIFC_uc011amb.1_Silent_p.F182F	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	458						extracellular region	lipopolysaccharide binding|phospholipid binding										CTGAATTGACGAATAAGAATT	0.368000														28			6		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114296129	114296129	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:114296129G>A	uc004bff.2	+	3	836	c.612G>A	c.(610-612)agG>agA	p.R204R	ZNF483_uc011lwq.2_Silent_p.R204R|ZNF483_uc004bfg.2_Silent_p.R204R	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	204	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAAACCTCAGGAACCTAGAAT	0.408000														109			25		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47385128	47385128	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:47385128C>T	uc003crd.3	+	9	1548	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	KLHL18_uc011bav.2_Silent_p.S362S	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	474								p.A473T(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GAGCCGCCTCCCTGGGGAGCA	0.617000														54			6		0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72769804	72769804	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:72769804G>A	uc002jlq.3	-	2	175	c.101C>T	c.(100-102)tCa>tTa	p.S34L	NAT9_uc002jlr.3_Missense_Mutation_p.S33L|TMEM104_uc010wrf.1_5'Flank|TMEM104_uc010wrg.1_5'Flank|TMEM104_uc002jls.4_5'Flank|TMEM104_uc010dfx.3_5'Flank	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	Homo sapiens N-acetyltransferase 9 (GCN5-related, putative) (NAT9), mRNA.	34						protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CAGCTCCTCTGATTTCATCCA	0.567000														89			29		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	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)				201			65		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499382	51499382	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:51499382G>A	uc002puq.1	-	5	1037	c.851C>T	c.(850-852)cCt>cTt	p.P284L	KLK8_uc002pur.1_Missense_Mutation_p.P239L|KLK8_uc002pus.1_Missense_Mutation_p.P98L|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.P239L|KLK8_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	239					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ATAGACGCCAGGTTTGTCGGA	0.547000														121			31		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73964968	73964968	+	Missense_Mutation	SNP	C	G	G	rs140104691		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:73964968C>G	uc021rwe.1	-	13	2785	c.2437G>C	c.(2437-2439)Gta>Cta	p.V813L	HEATR4_uc021rwf.1_Missense_Mutation_p.V766L|HEATR4_uc010tub.1_Missense_Mutation_p.V813L	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCCAGCCGTACACCTGGTGAC	0.562000														27			9		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471424	146471424	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:146471424C>T	uc003weu.2	+	1	675	c.159C>T	c.(157-159)tcC>tcT	p.S53S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	53	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCTCCTCCTCCATCTCTGGTA	0.423000										HNSCC(39;0.1)				30			6		0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243486	180243486	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:180243486C>T	uc001goe.2	+	5	1177	c.945C>T	c.(943-945)tcC>tcT	p.S315S	LOC100527964_uc001gof.2_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AGTCTCCATCCTCCATATCGT	0.547000														157			61		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058027	9058027	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:9058027G>A	uc002mkp.3	-	2	29623	c.29419C>T	c.(29419-29421)Cat>Tat	p.H9807Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9809	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGAAGGATGAATTTTCTCT	0.448000														82			17		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343343	248343343	+	Missense_Mutation	SNP	A	C	C	rs141475463	byFrequency	TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:248343343A>C	uc010pzf.2	+	0	56	c.56A>C	c.(55-57)aAt>aCt	p.N19T		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			GGAATCTTCAATCACAGCCCA	0.453000														366			37		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482293	140482293	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:140482293C>T	uc003lio.3	+	0	2060	c.2060C>T	c.(2059-2061)aCc>aTc	p.T687I	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	687					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)			GACTTGCTCACCGTCTACCTG	0.687000														98			26		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233586	84233586	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:84233586C>T	uc003pjz.3	+	1	666	c.426C>T	c.(424-426)ttC>ttT	p.F142F	PRSS35_uc010kbm.3_Silent_p.F142F|PRSS35_uc021zce.1_Silent_p.F142F	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	142	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TAACCAATTTCCCTTTCAGCA	0.468000														108			18		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94039091	94039091	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:94039091C>T	uc003ung.1	+	18	1464	c.993C>T	c.(991-993)ggC>ggT	p.G331G	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	331			G -> D (in OI3).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P330T(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTATTCCTGGCCCTGTTGGTG	0.582000										HNSCC(75;0.22)				67			9		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104084292	104084292	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:104084292C>T	uc001tjw.3	+	29	3459	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1091	FAS1 3.				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						AGGGCAACTTCCTTCACTTGG	0.403000														55			7		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359804	77359804	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:77359804C>T	uc002ffc.4	-	12	2410	c.1991G>A	c.(1990-1992)cGt>cAt	p.R664H	ADAMTS18_uc010chc.1_Missense_Mutation_p.R252H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R360H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	664	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R664C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAACCATCCACGGAAAGGTTT	0.388000														79			17		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059444	248059444	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:248059444C>T	uc010pzb.2	+	0	556	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	OR2W3_uc001idp.1_Missense_Mutation_p.R186W	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGCCCTGATCCGGATGGCCTG	0.622000														102			17		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328094	57328094	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:57328094G>A	uc002qnu.2	-	6	2067	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.F543F|PEG3_uc002qnv.2_Silent_p.F572F|PEG3_uc002qnw.2_Silent_p.F448F|PEG3_uc002qnx.2_Silent_p.F446F|PEG3_uc010etr.2_Silent_p.F572F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	572					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F572L(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACTATGAAGGAAGGTTTCCT	0.468000														112			19		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931563	150931563	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:150931563C>T	uc003eyr.1	-	2	1020	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.R181Q|P2RY14_uc021xfz.1_Missense_Mutation_p.R181Q	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	181						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCCACTTCCGTCCCAGTTC	0.383000														135			11		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160920382	160920382	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:160920382G>A	uc001fxd.3	-	4	619	c.561C>T	c.(559-561)ttC>ttT	p.F187F	ITLN2_uc009wts.3_Silent_p.F186F|ITLN2_uc010pju.2_Silent_p.F104F	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	187	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCTCTGGAGGAAGCCAGTGT	0.567000														124			15		0	0	1	0	0
KCNE4	23704	broad.mit.edu	37	2	223917937	223917937	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:223917937C>T	uc002vnl.4	+	1	543	c.389C>T	c.(388-390)tCc>tTc	p.S130F	KCNE4_uc021vxi.1_Missense_Mutation_p.S130F	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 4 (KCNE4), mRNA.	130						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCGAGTCCTCCTCCCCGGAC	0.657000														26			5		0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107245347	107245347	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:107245347C>T	uc001tlw.3	+	6	1406	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	RIC8B_uc001tlx.3_Silent_p.F427F|RIC8B_uc001tly.3_Silent_p.F387F|RIC8B_uc001tlz.3_Non-coding_Transcript|RIC8B_uc009zur.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	427					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTGCTGAATTCCTTTTTGTCC	0.408000														48			9		0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10335081	10335081	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:10335081G>A	uc002mnl.2	-	1	612	c.501C>T	c.(499-501)atC>atT	p.I167I	S1PR2_uc021uos.1_Silent_p.I167I	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	167					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCAGCCAAGGATGGGCAGGC	0.607000														55			13		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210334122	210334122	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:210334122C>T	uc001hhs.4	+	9	1653	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	SYT14_uc001hht.4_Missense_Mutation_p.S487F|SYT14_uc010psn.2_Missense_Mutation_p.S513F|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.S430F|SYT14_uc009xcv.3_Missense_Mutation_p.S468F|SYT14_uc010psp.2_Missense_Mutation_p.S6F	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	468						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CAAGAGATGTCCAAATGCAAG	0.373000														68			10		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894592	23894592	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:23894592C>T	uc001wjx.3	-	20	2428	c.2322G>A	c.(2320-2322)gaG>gaA	p.E774E		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	774	Myosin head-like.		E -> V (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L773L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCTCATTTCCTCCAGCAGCC	0.587000														48			6		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45947241	45947241	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr21:45947241G>A	uc002zfe.1	-	6	1149	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TSPEAR_uc010gpv.1_Silent_p.F293F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	361					cell adhesion	extracellular region	structural molecule activity	p.F361F(4)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GATATGAGACGAACTTCTCTT	0.552000														113			15		0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83857207	83857207	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:83857207G>A	uc003hnx.3	-	10	2150	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F	LIN54_uc003hnz.3_Missense_Mutation_p.S370F|LIN54_uc003hny.3_Missense_Mutation_p.S190F|LIN54_uc010ijt.2_Missense_Mutation_p.S502F|LIN54_uc010iju.2_Missense_Mutation_p.S190F|LIN54_uc010ijv.2_Missense_Mutation_p.S370F	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	591					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S591Y(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACGTCGATCAGATTCTCCCTC	0.403000														99			12		0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101481355	101481355	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:101481355G>A	uc003dvk.1	+	9	1871	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	CEP97_uc011bhf.1_Missense_Mutation_p.R556H|CEP97_uc003dvl.1_Missense_Mutation_p.R311H|CEP97_uc003dvm.1_Missense_Mutation_p.R453H	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	615	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATGAAGAACGTATTAAAAAA	0.333000														72			9		0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35149097	35149097	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:35149097G>A	uc001ziv.3	-	34	4535	c.4354C>T	c.(4354-4356)Cct>Tct	p.P1452S		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1452						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATAAAGCAGGGATGGCTTCT	0.557000														83			18		0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132837948	132837948	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:132837948T>A	uc004bze.2	+	1	402	c.175T>A	c.(175-177)Ttt>Att	p.F59I	GPR107_uc004bzb.2_5'UTR|GPR107_uc011mbx.1_Missense_Mutation_p.F59I|GPR107_uc004bzd.2_Missense_Mutation_p.F59I	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	59						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TCTGAACACCTTTGGCTTCTT	0.388000														43			5		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398831	196398831	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:196398831G>A	uc001gtd.1	-	8	755	c.695C>T	c.(694-696)tCc>tTc	p.S232F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.S232F|KCNT2_uc001gtf.1_Missense_Mutation_p.S232F|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.S232F|KCNT2_uc009wyv.1_Missense_Mutation_p.S207F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	232						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S232F(2)|p.D231Y(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAATAAAGGGAGTCAAAGAG	0.388000														56			15		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125879757	125879757	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:125879757C>T	uc003eim.1	-	1	256	c.66G>A	c.(64-66)gaG>gaA	p.E22E	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.E22E|ALDH1L1_uc010hsf.1_5'UTR|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	22	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTTCGTGGCCCTCCTTCCTCA	0.567000														55			11		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272466	139272466	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:139272466C>T	uc004chh.3	-	20	3822	c.3813G>A	c.(3811-3813)ctG>ctA	p.L1271L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1271					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ACAGCAGGCCCAGGTCCAGGG	0.721000														10			4		0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156264705	156264705	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:156264705G>A	uc001foh.3	-	1	236	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	75					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGAGGCCCCAGGCTGCTCCAC	0.622000														100			7		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378093	19378093	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr14:19378093G>A	uc010tkp.2	+	0	500	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGTTTGTGGATTTCTGTGG	0.488000														371			25		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28967304	28967304	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:28967304C>T	uc003nlu.2	-	4	781	c.270G>A	c.(268-270)aaG>aaA	p.K90K	ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACATCACATCCTTATAGAGAT	0.383000														90			25		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158962718	158962718	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:158962718G>A	uc002tzo.3	+	3	361	c.341G>A	c.(340-342)gGa>gAa	p.G114E	UPP2_uc002tzp.3_Missense_Mutation_p.G57E	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	57					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GCAATGTTTGGAGATGTAAAG	0.323000														36			10		0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348617	103348617	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:103348617C>T	uc004bba.3	+	1	1069	c.979C>T	c.(979-981)Cct>Tct	p.P327S		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	Homo sapiens muscle-related coiled-coil protein (MURC), mRNA.	327					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GCCGGTGTATCCTCCCCATGA	0.493000														52			6		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1628944	1628945	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:1628944_1628945GG>AA	uc001ltw.1	-	0	749_750	c.671_672CC>TT	c.(670-672)tcc>tTT	p.S224F	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	224	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGCTGGACTGGGAGGAGCAGGG	0.594000														201			12		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184698	72184698	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr16:72184698G>A	uc002fcc.4	-	4	617	c.445C>T	c.(445-447)Cac>Tac	p.H149Y	PMFBP1_uc002fcd.3_Missense_Mutation_p.H149Y|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.H4Y	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	149										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTCGTTGTGATTTCCCATT	0.502000														85			13		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405110	105405110	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:105405110C>T	uc003yly.4	-	7	1474	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	DPYS_uc010mcf.1_Missense_Mutation_p.E19K	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	449					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACTCCGGCTTCATATACCACT	0.453000														138			32		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120488300	120488300	+	Splice_Site	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:120488300C>T	uc003idh.3	-	4	987	c.832_splice	c.e4-1	p.V278_splice	PDE5A_uc003idf.3_Splice_Site_p.V236_splice|PDE5A_uc003idg.3_Splice_Site_p.V226_splice	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	278	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CACCAACAACCTGGTATAAGG	0.363000														101			17		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169699657	169699657	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:169699657C>T	uc001ggm.4	-	4	788	c.631G>A	c.(631-633)Gat>Aat	p.D211N	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	211	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TAACCCCTATCACAGCTGATA	0.512000														68			26		0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48537553	48537553	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:48537553C>T	uc002phu.2	-	4	547	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	139	EF-hand 3.				signal transduction	cytoplasm	calcium ion binding	p.L138L(1)|p.G139E(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGCCGCTCCCCCAGGAGTCTC	0.537000														39			8		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1729758	1729758	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:1729758C>T	uc003gdo.3	+	3	784	c.629C>T	c.(628-630)tCc>tTc	p.S210F	TACC3_uc010ibz.3_Missense_Mutation_p.S210F|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	210						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGGACAGAGTCCCAGCACAAA	0.592000														32			5		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98082469	98082469	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr10:98082469G>A	uc001kmf.3	+	4	904	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	DNTT_uc001kmg.3_Missense_Mutation_p.R245Q	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	245	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AATGATGAACGATATCAATCC	0.284000														73			11		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129800	99129800	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr7:99129800C>T	uc003uqv.3	+	6	2572	c.2448C>T	c.(2446-2448)ctC>ctT	p.L816L	ZKSCAN5_uc010lfx.3_Silent_p.L816L|ZKSCAN5_uc003uqw.3_Silent_p.L816L|ZKSCAN5_uc003uqx.3_Silent_p.L743L|ZKSCAN5_uc003uqy.3_Silent_p.L552L	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	816					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTTGTAGCCTCTTTAAACACC	0.388000														147			26		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12339964	12339964	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:12339964G>A	uc001rah.4	-	3	879	c.737C>T	c.(736-738)tCc>tTc	p.S246F	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.S246F	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	246	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGCCAAAATGGAGTGTGTGCT	0.458000														103			15		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43525827	43525827	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:43525827G>A	uc001zrd.2	-	11	1942	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	TGM5_uc001zrc.2_Missense_Mutation_p.P302L|TGM5_uc001zre.2_Missense_Mutation_p.P563L	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	645					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)	CTCCGAGAGGGGGTTTGAAAA	0.502000														65			13		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760167	167760167	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr2:167760167C>T	uc002udx.3	+	1	264	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	XIRP2_uc010fpn.3_Missense_Mutation_p.P59S|XIRP2_uc010fpo.3_Missense_Mutation_p.P59S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					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						ATCTTTGGATCCCACAAGTCT	0.498000														46			14		0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103664119	103664119	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:103664119G>A	uc011lhk.1	-	2	595	c.441C>T	c.(439-441)ctC>ctT	p.L147L	KLF10_uc011lhj.1_Silent_p.L136L	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	147					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAGCTTTGGGGAGTTTGGGGG	0.493000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		108			22		0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103814205	103814205	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr11:103814205C>T	uc001phq.3	-	4	1119	c.747G>A	c.(745-747)agG>agA	p.R249R	PDGFD_uc001php.3_Silent_p.R243R	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	249		Cleavage (Potential).			positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CATGGTATGACCTGCCTCGAT	0.418000														36			5		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184106424	184106424	+	Silent	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:184106424G>A	uc003fov.3	+	20	2850	c.2604G>A	c.(2602-2604)ggG>ggA	p.G868G	CHRD_uc003fow.3_Silent_p.G498G|CHRD_uc003fox.3_Silent_p.G868G|CHRD_uc003foy.3_Silent_p.G498G|CHRD_uc010hyc.3_Silent_p.G458G|CHRD_uc011brr.2_Silent_p.G410G	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	868					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGCTGATGGGCCCCGGGGCT	0.617000														97			19		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83455947	83455947	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:83455947C>T	uc002bjd.2	-	1	363	c.196G>A	c.(196-198)Gac>Aac	p.D66N	FSD2_uc010uol.1_Missense_Mutation_p.D66N|FSD2_uc010uom.1_Missense_Mutation_p.D66N	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	66										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCTTGAAGGTCTCTTTGAGCC	0.443000														153			28		0	0	1	0	0
MRPL15	29088	broad.mit.edu	37	8	55060096	55060096	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr8:55060096C>T	uc003xsa.2	+	4	771	c.708C>T	c.(706-708)ctC>ctT	p.L236L		NM_014175	NP_054894	Q9P015	RM15_HUMAN	Homo sapiens mitochondrial ribosomal protein L15 (MRPL15), nuclear gene encoding mitochondrial protein, mRNA.	236					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GACTTGAACTCGCCAGGAAGT	0.438000														79			13		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321756	79321756	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:79321756C>T	uc010mpk.3	-	7	5558	c.5434G>A	c.(5434-5436)Gaa>Aaa	p.E1812K	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1634K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1812					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATTATCTTCGTTCTTTGGG	0.468000														22			6		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56330265	56330265	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:56330265C>T	uc021wzo.1	-	1	996	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	ERC2_uc003dhr.1_Missense_Mutation_p.E286K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	286						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGCTCCATTTCCTCTAATGTC	0.473000														271			52		0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825665	52825665	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chrX:52825665C>T	uc004drc.1	-	1	82	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	28								p.E28D(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TTTGGTGTCTCCTGCATCTGT	0.413000														43			14		0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58639442	58639442	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr19:58639442G>A	uc002qrn.3	-	3	1666	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.H477Y	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCCTTAGTGTGAATTCTCTGG	0.517000														83			24		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048709	70048709	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:70048709T>A	uc001svg.3	-	9	2212	c.1985A>T	c.(1984-1986)gAa>gTa	p.E662V	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.E449V|BEST3_uc010stm.2_Missense_Mutation_p.E556V	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	662						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTCCTCAGTTTCCTTGTTCAG	0.458000														67			8		0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183960166	183960166	+	RNA	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:183960166C>T	uc003ivi.4	+	0		c.1349C>T								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		CACCAGAGATCATGTCAGCTA	0.388000														44			4		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124064440	124064440	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr9:124064440G>C	uc004blf.1	+	1	405	c.344G>C	c.(343-345)tGg>tCg	p.W115S	GSN_uc004bld.1_Missense_Mutation_p.W64S|GSN_uc010mvr.1_Missense_Mutation_p.W75S|GSN_uc010mvq.1_Missense_Mutation_p.W75S|GSN_uc010mvu.1_Missense_Mutation_p.W64S|GSN_uc010mvt.1_Missense_Mutation_p.W64S|GSN_uc010mvs.1_Missense_Mutation_p.W64S|GSN_uc004ble.1_Missense_Mutation_p.W64S|GSN_uc010mvv.1_Missense_Mutation_p.W64S|GSN_uc011lyh.1_Missense_Mutation_p.W81S|GSN_uc011lyi.1_Missense_Mutation_p.W64S|GSN_uc011lyj.1_Missense_Mutation_p.W88S	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	115	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CTCCACTACTGGCTGGGTGAG	0.587000														59			9		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115856396	115856396	+	Missense_Mutation	SNP	C	T	T	rs141541753		TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr4:115856396C>T	uc003ibu.3	-	5	2181	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	501	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.G501E(2)|p.G501R(1)		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)		AAGTTCACCTCCTCTGATACT	0.383000														77			20		0	0	1	0	0
RAB3B	5865	broad.mit.edu	37	1	52385653	52385653	+	Silent	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:52385653C>T	uc001cth.3	-	4	819	c.606G>A	c.(604-606)aaG>aaA	p.K202K		NM_002867	NP_002858	P20337	RAB3B_HUMAN	Homo sapiens RAB3B, member RAS oncogene family (RAB3B), mRNA.	202					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						GACGCGTGTTCTTGGAGGAGC	0.592000														43			19		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51929785	51929785	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr6:51929785C>T	uc003pah.1	-	12	1220	c.944G>A	c.(943-945)gGa>gAa	p.G315E	PKHD1_uc003pai.3_Missense_Mutation_p.G315E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	315	IPT/TIG 3.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACATCTTTTCCTGGAGCCCG	0.463000														67			16		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179248	59179248	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr15:59179248G>A	uc002afp.3	-	18	2849	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	SLTM_uc002afn.3_Missense_Mutation_p.R463C|SLTM_uc002afo.3_Missense_Mutation_p.R903C|SLTM_uc002afq.3_Missense_Mutation_p.R490C|SLTM_uc010bgd.3_Missense_Mutation_p.R490C	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	921					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCGCTGCTACGATTCCCAGGG	0.547000														53			15		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167016129	167016129	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr3:167016129C>T	uc011bpc.2	-	17	2180	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	ZBBX_uc003feq.3_Missense_Mutation_p.E586K|ZBBX_uc003fep.3_Missense_Mutation_p.E615K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	615						intracellular	zinc ion binding	p.E615Q(3)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTTGCATTCTAAACGATGA	0.333000														90			20		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853702	40853702	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr18:40853702G>A	uc002law.3	-	1	1061	c.692C>T	c.(691-693)aCc>aTc	p.T231I	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.T213I	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	231	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTGGATTTGGGTGTAGGGTAT	0.403000														107			16		0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109893608	109893608	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:109893608G>A	uc001dxm.2	-	5	774	c.725C>T	c.(724-726)tCc>tTc	p.S242F	SORT1_uc010ovi.2_Missense_Mutation_p.S106F|SORT1_uc009wfb.2_Missense_Mutation_p.S106F	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	242					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AAAATTCTTGGACACCCACAG	0.388000														132			39		0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871861	149871863	+	In_Frame_Del	DEL	ACA	-	-			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:149871861_149871863delACA	uc021oya.1	+	0	249_251	c.249_251delACA	c.(247-252)ctacaa>cta	p.Q84del	BOLA1_uc001etf.3_In_Frame_Del_p.Q84del	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	Homo sapiens bolA homolog 1 (E. coli) (BOLA1), mRNA.	84						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGAGCCCCCTACAACGACACCGG	0.680													---	40	---	---	9	---					
SDCCAG8	10806	broad.mit.edu	37	1	243437890	243437891	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr1:243437890_243437891insT	uc001hzw.3	+	3	521_522	c.352_353insT	c.(352-354)cttfs	p.L118fs	SDCCAG8_uc010pyk.2_Intron|SDCCAG8_uc010pyl.2_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	118					G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TATGCACGACCTTGTTCATACT	0.277													---	97	---	---	34	---					
FAT2	2196	broad.mit.edu	37	5	150922632	150922633	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr5:150922632_150922633insT	uc003lue.4	-	8	8068_8069	c.8055_8056insA	c.(8053-8058)aaagtafs	p.K2685fs		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2685	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTAAGGATACTTTTTTAGGAA	0.460													---	55	---	---	14	---					
EP400	57634	broad.mit.edu	37	12	132445250	132445251	+	Frame_Shift_Ins	INS	-	G	G			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr12:132445250_132445251insG	uc001ujn.3	+	1	238_239	c.86_87insG	c.(85-87)ccgfs	p.P29fs	EP400_uc021rgq.1_Frame_Shift_Ins_p.P29fs|EP400_uc001ujm.3_Frame_Shift_Ins_p.P29fs|EP400_uc001ujj.2_Frame_Shift_Ins_p.P29fs|EP400_uc001ujk.3_Frame_Shift_Ins_p.P29fs	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	29					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGAGCAGCCGGCCCACCCCA	0.653													---	4	---	---	2	---					
C17orf104	284071	broad.mit.edu	37	17	42746811	42746811	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D9-A3Z1-06A-11D-A23B-08	TCGA-D9-A3Z1-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37cecfce-36fc-4240-adae-75f506475881	3607a6e5-99d1-4bd6-8a37-9380de187000	g.chr17:42746811delC	uc002iha.3	+	5	2603	c.2383delC	c.(2383-2385)ccafs	p.P795fs	C17orf104_uc002igz.3_Frame_Shift_Del_p.P629fs|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	795										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TAACAACACTCCAGTTCCAAG	0.363													---	4	---	---	2	---