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
SLC12A1	6557	broad.mit.edu	37	15	48536965	48536965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:48536965G>A	uc001zwn.4	+	10	1532	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	SLC12A1_uc010uew.1_Missense_Mutation_p.R245Q|SLC12A1_uc010bem.3_Missense_Mutation_p.R439Q|SLC12A1_uc001zwq.4_Missense_Mutation_p.R210Q|SLC12A1_uc001zwr.4_Missense_Mutation_p.R166Q	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	439					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGTGTGGTCCGAGATGCCACC	0.458000														29			6		0	0	0.001168	0	0
DSG1	1828	broad.mit.edu	37	18	28911671	28911671	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:28911671G>A	uc002kwp.3	+	5	737	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	175	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAGATACACTGGTGATGATAC	0.333000														8			7		0	0	0.003080	0	0
RWDD1	51389	broad.mit.edu	37	6	116905895	116905895	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:116905895C>T	uc003pxd.3	+	2	308	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	RWDD1_uc003pxc.3_5'UTR|RWDD1_uc003pxb.3_5'UTR	NM_015952	NP_057188	Q9H446	RWDD1_HUMAN	Homo sapiens RWD domain containing 1 (RWDD1), transcript variant 1, mRNA.	49	RWD.						protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		CTTAGCTGTCCAGACTACCCT	0.358000														27			18		0	0	0.007413	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667684	70667684	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:70667684C>T	uc003xyl.3	-	3	1940	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S	SLCO5A1_uc010lzb.3_Silent_p.S411S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.S411S|SLCO5A1_uc010lzc.2_Silent_p.S411S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	411						integral to membrane|plasma membrane	transporter activity	p.S411L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAAATCCCATCGAAGAAACTT	0.383000														47			7		0	0	0.006214	0	0
HRNR	388697	broad.mit.edu	37	1	152190978	152190978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152190978C>T	uc001ezt.1	-	2	3203	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1043					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)			TGACCGGAGCCAGACTCATAT	0.577000														87			81		0	0	0.003610	0	0
FGD2	221472	broad.mit.edu	37	6	36982748	36982748	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:36982748C>T	uc010jwp.1	+	7	1134	c.963C>T	c.(961-963)ctC>ctT	p.L321L	FGD2_uc003ong.2_Silent_p.L43L|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Silent_p.L127L	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	321	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACACCCTGCTCCGTGAGGGCC	0.632000														30			6		0	0	0.001984	0	0
PDE6C	5146	broad.mit.edu	37	10	95400236	95400236	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:95400236G>A	uc001kiu.4	+	12	1797	c.1659G>A	c.(1657-1659)agG>agA	p.R553R		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	553					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACACTGTGAGGAAAGGGTACC	0.443000														74			17		0	0	0.007413	0	0
KCNA10	3744	broad.mit.edu	37	1	111060215	111060215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:111060215C>T	uc001dzt.1	-	0	1583	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	399						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCTGGCTCATCCACCTCAGCA	0.537000														12			16		0	0	0.003163	0	0
RXRG	6258	broad.mit.edu	37	1	165398042	165398042	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:165398042G>A	uc001gda.3	-	1	673	c.211C>T	c.(211-213)Cga>Tga	p.R71*	RXRG_uc021pea.1_5'UTR	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	71	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R71*(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTGATGACTCGATATGGAGAG	0.607000														15			17		0	0	0.006122	0	0
MAGI1	9223	broad.mit.edu	37	3	65479288	65479288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:65479288C>T	uc003dmn.3	-	2	975	c.449G>A	c.(448-450)aGa>aAa	p.R150K	MAGI1_uc003dmm.3_Missense_Mutation_p.R150K|MAGI1_uc003dmo.3_Missense_Mutation_p.R150K|MAGI1_uc003dmp.3_Missense_Mutation_p.R150K|MAGI1_uc010hny.2_Missense_Mutation_p.R34K|MAGI1_uc021xac.1_Missense_Mutation_p.R150K|MAGI1_uc003dmr.3_Missense_Mutation_p.R150K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	150	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCTCCTTCTCTGGGAGATCG	0.458000														17			16		0	0	0.006122	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882549	228882549	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:228882549C>T	uc002vpq.2	-	6	3068	c.3021G>A	c.(3019-3021)acG>acA	p.T1007T	SPHKAP_uc002vpp.2_Silent_p.T1007T|SPHKAP_uc010zlx.1_Silent_p.T1007T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1007						cytoplasm	protein binding	p.T1007M(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTGCTCGTCCGTCTTCCTCT	0.517000														18			31		0	0	0.003271	0	0
PLVAP	83483	broad.mit.edu	37	19	17476802	17476802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:17476802G>A	uc002ngk.1	-	2	512	c.472C>T	c.(472-474)Ctc>Ttc	p.L158F		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	158						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCATGAAGAGCAAGGCTAAG	0.557000														26			9		0	0	0.004482	0	0
ERCC6	2074	broad.mit.edu	37	10	50682166	50682166	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:50682166C>T	uc001jhs.4	-	12	2659	c.2505G>A	c.(2503-2505)tgG>tgA	p.W835*	ERCC6_uc009xod.3_5'UTR|ERCC6_uc010qgr.2_Nonsense_Mutation_p.W205*|ERCC6_uc001jhr.4_Nonsense_Mutation_p.W203*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	835					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGAACGTTTCCAGTACCCAA	0.423000								Direct reversal of damage;Nucleotide excision repair (NER)						52			23		0	0	0.001882	0	0
PIDD	55367	broad.mit.edu	37	11	802336	802336	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:802336G>A	uc001lro.2	-	5	1182	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Silent_p.F199F|PIDD_uc001lrm.1_Silent_p.F32F|PIDD_uc001lrn.2_Silent_p.F199F|PIDD_uc001lrk.2_Silent_p.F345F|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	345	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CTCCCGCTGGGAACTGCAGGC	0.662000														23			5		0	0	0.001984	0	0
ABCA12	26154	broad.mit.edu	37	2	215840723	215840723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:215840723C>T	uc002vew.3	-	33	5387	c.5167G>A	c.(5167-5169)Gga>Aga	p.G1723R	ABCA12_uc002vev.3_Missense_Mutation_p.G1405R|ABCA12_uc010zjn.2_Missense_Mutation_p.G650R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1723					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCAACAGTCCAAAGCCATCC	0.433000														16			16		0	0	0.004007	0	0
ASAP3	55616	broad.mit.edu	37	1	23768693	23768694	+	Missense_Mutation	DNP	GA	AG	AG			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:23768693_23768694GA>AG	uc001bha.2	-	6	780_781	c.656_657TC>CT	c.(655-657)ttc>tCT	p.F219S	ASAP3_uc010odz.1_Missense_Mutation_p.F88S|ASAP3_uc010oea.1_Missense_Mutation_p.F210S	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	219					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCTGGGCGTGGAAGAACTTGAT	0.545000														3			5		0	0	0.004672	0	0
ANGPT1	284	broad.mit.edu	37	8	108306214	108306214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:108306214G>A	uc003ymn.3	-	5	1456	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	ANGPT1_uc011lhv.2_Missense_Mutation_p.R130C|ANGPT1_uc003ymo.3_Missense_Mutation_p.R329C|ANGPT1_uc003ymp.4_Missense_Mutation_p.R129C	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	330	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCATCTTCACGATGTTGTATT	0.338000														61			17		0	0	0.006122	0	0
MYH9	4627	broad.mit.edu	37	22	36689450	36689450	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:36689450G>A	uc003apg.3	-	29	4251	c.4020C>T	c.(4018-4020)tcC>tcT	p.S1340S		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1340					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCCGGAAGGAATTCTTCT	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					46			12		0	0	0.002450	0	0
TRIP11	9321	broad.mit.edu	37	14	92473984	92473984	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:92473984C>G	uc001xzy.3	-	10	1901	c.1527_splice	c.e10+1	p.K509_splice	TRIP11_uc010auf.2_Splice_Site_p.K245_splice	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	509					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ACAGTGTTACCTTTGTAGCTT	0.343000			T	PDGFRB	AML									44			34		0	0	0.002445	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000														8			4		0	0	0.000248	0	0
IQCH	64799	broad.mit.edu	37	15	67649700	67649700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:67649700C>T	uc002aqo.2	+	6	752	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	IQCH_uc010ujv.2_Missense_Mutation_p.R51W|IQCH_uc002aqn.2_Missense_Mutation_p.R46W|IQCH_uc002aqp.2_5'UTR|IQCH_uc002aqq.2_5'UTR	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	219										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CACTATACCTCGGGAACCACC	0.398000														21			21		0	0	0.002299	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931130	94931130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94931130G>A	uc001ydf.3	-	3	1179	c.1018C>T	c.(1018-1020)Ctc>Ttc	p.L340F	SERPINA9_uc001yde.3_Missense_Mutation_p.L240F|SERPINA9_uc010avc.3_Missense_Mutation_p.L191F|SERPINA9_uc001ydg.3_Missense_Mutation_p.L304F|SERPINA9_uc001ydh.1_Missense_Mutation_p.L340F|SERPINA9_uc001ydi.1_Missense_Mutation_p.L304F	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	322					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ATCTTCGGGAGGATGGTTTCC	0.438000														57			17		0	0	0.004990	0	0
OR52B4	143496	broad.mit.edu	37	11	4389181	4389181	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4389181C>T	uc010qye.2	-	0	436	c.345G>A	c.(343-345)ggG>ggA	p.G115G		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGCAAGATCCCTGACTCAG	0.473000														14			27		0	0	0.004656	0	0
CSMD2	114784	broad.mit.edu	37	1	34035099	34035099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:34035099C>T	uc001bxm.1	-	51	8183	c.8006G>A	c.(8005-8007)gGa>gAa	p.G2669E	CSMD2_uc001bxn.1_Missense_Mutation_p.G2671E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2671	Sushi 17.					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)				AGACAGTGTTCCGATGCGGTG	0.572000														19			12		0	0	0.001855	0	0
GAB2	9846	broad.mit.edu	37	11	77931434	77931434	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:77931434C>T	uc001ozh.3	-	8	1920	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	GAB2_uc001ozg.3_Silent_p.K568K	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	606					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTGCTCTTCTTAGGGGCAG	0.577000														38			14		0	0	0.002450	0	0
HEPHL1	341208	broad.mit.edu	37	11	93778858	93778858	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:93778858G>C	uc001pep.2	+	1	347	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	64	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTTATTTCTCGAAAGAGGGCC	0.388000														0			6		0	0	0.001168	0	0
DOCK2	1794	broad.mit.edu	37	5	169141077	169141077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:169141077C>T	uc003maf.3	+	17	1785	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.P61S|DOCK2_uc010jjl.1_Missense_Mutation_p.P87S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	569	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGACCCTTCCTTCTTATCG	0.567000														34			12		0	0	0.001368	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38775471	38775471	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:38775471C>T	uc003xmi.4	+	1	258	c.24C>T	c.(22-24)aaC>aaT	p.N8N	PLEKHA2_uc011lce.2_Intron	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	8	PH 1.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			ATCGGCAGAACCGAATCTGTG	0.557000														16			22		0	0	0.003954	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205741	43205741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:43205741G>A	uc002lbe.3	+	2	1060	c.244G>A	c.(244-246)Gac>Aac	p.D82N	SLC14A2_uc002lbb.3_Missense_Mutation_p.D82N|SLC14A2_uc010dnj.3_Missense_Mutation_p.D82N	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	82						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCCATCGGGACTCAGCAGG	0.507000														9			10		0	0	0.006214	0	0
STT3B	201595	broad.mit.edu	37	3	31658501	31658501	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:31658501T>A	uc011axe.2	+	6	1057	c.1057T>A	c.(1057-1059)Ttc>Atc	p.F353I	STT3B_uc003cer.1_Missense_Mutation_p.F353I|STT3B_uc010hft.1_Missense_Mutation_p.F353I	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	353					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CCAGACCCTTTTCTTTTTGGG	0.403000														121			112		0	0	0.003610	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418174	85418175	+	Missense_Mutation	DNP	GG	AA	AA	rs138870286		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:85418174_85418175GG>AA	uc001dkm.3	-	4	845_846	c.604_605CC>TT	c.(604-606)cct>TTt	p.P202F	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	202						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CCAGTCCGGAGGCTTCTTGGAG	0.396000														11			25		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744287	140744287	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140744287C>T	uc003lju.2	+	0	390	c.390C>T	c.(388-390)ttC>ttT	p.F130F	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.F130F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	130	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGATAACTTCCCGCGTTTCC	0.433000														11			5		0	0	0.001168	0	0
CDH12	1010	broad.mit.edu	37	5	21842363	21842364	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:21842363_21842364CC>TT	uc010iuc.2	-	4	1178_1179	c.720_721GG>AA	c.(718-723)aaggat>aaAAat	p.D241N	CDH12_uc011cno.1_Missense_Mutation_p.D201N|CDH12_uc003jgk.2_Missense_Mutation_p.D241N	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	241	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTCCCATATCCTTGGCTTGGA	0.411000										HNSCC(59;0.17)				22			31		0	0	0.004672	0	0
GPR137B	7107	broad.mit.edu	37	1	236343290	236343290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:236343290C>T	uc001hxq.3	+	3	890	c.799C>T	c.(799-801)Cat>Tat	p.H267Y		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	267						integral to plasma membrane|membrane fraction		p.V266A(1)|p.V266I(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAAGAGCGTCCATTCCTTTGA	0.517000														51			12		0	0	0.001855	0	0
ZNF800	168850	broad.mit.edu	37	7	127014581	127014581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:127014581G>A	uc010lla.2	-	4	1521	c.809C>T	c.(808-810)cCa>cTa	p.P270L	ZNF800_uc003vlw.1_Missense_Mutation_p.P173L|ZNF800_uc003vlx.1_Missense_Mutation_p.P270L|ZNF800_uc003vly.1_Missense_Mutation_p.P270L	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGATTGGTTTGGATTCTTTCG	0.363000														76			44		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202820	140202820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140202820C>T	uc003lhl.2	+	0	1460	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.A487V|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A487V	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	502	Cadherin 5.				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)			CAGGAGAACGCCCTGGTGTCC	0.662000														31			15		0	0	0.006122	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356686	37356686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:37356686G>A	uc002xjc.3	+	1	1245	c.982G>A	c.(982-984)Ggc>Agc	p.G328S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	328					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCGCTGGAGGGCAATATGCA	0.562000														25			12		0	0	0.000978	0	0
ZNF781	163115	broad.mit.edu	37	19	38160067	38160067	+	Nonstop_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:38160067T>G	uc002ogy.2	-	3	1725	c.983A>C	c.(982-984)tAa>tCa	p.*328S	ZNF781_uc002ogz.2_Nonstop_Mutation_p.*323S|ZNF781_uc021utu.1_Splice_Site_p.*328_splice	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	Homo sapiens zinc finger protein 781 (ZNF781), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GATGTCTCATTAGATGTGCAT	0.363000														67			34		0	0	0.003755	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677314	3677315	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:3677314_3677315GG>AC	uc002wja.3	-	9	2601_2602	c.2601_2602CC>GT	c.(2599-2604)ggcctt>ggGTtt	p.L868F	SIGLEC1_uc002wiz.4_Missense_Mutation_p.L868F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	868	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGTCCCCAAGGCCCAGTTCTC	0.579000														32			16		0	0	0.004672	0	0
WWC2	80014	broad.mit.edu	37	4	184182240	184182240	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:184182240C>T	uc010irx.3	+	10	1646	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	WWC2_uc003ivk.4_Silent_p.F283F|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Silent_p.F170F|WWC2_uc003ivn.4_Silent_p.F52F	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	488										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AACTGGACTTCCTTCTGCAAG	0.498000														14			11		0	0	0.001855	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43992615	43992615	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:43992615T>C	uc010yny.2	+	29	4443	c.4360T>C	c.(4360-4362)Ttt>Ctt	p.F1454L		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1454						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAGGCAGCATTTCACCACCT	0.483000														217			88		0	0	0.003610	0	0
MKI67	4288	broad.mit.edu	37	10	129901361	129901361	+	Silent	SNP	G	A	A	rs149549696	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:129901361G>A	uc001lke.3	-	12	8938	c.8743C>T	c.(8743-8745)Ctg>Ttg	p.L2915L	MKI67_uc001lkf.3_Silent_p.L2555L|MKI67_uc009yav.1_Silent_p.L2490L|MKI67_uc009yaw.1_Silent_p.L2065L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2915	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGATCTTCCAGGGGTTGGGCC	0.522000														72			59		0	0	0.003610	0	0
DAGLA	747	broad.mit.edu	37	11	61505676	61505676	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:61505676C>T	uc001nsa.3	+	15	1769	c.1653C>T	c.(1651-1653)ccC>ccT	p.P551P		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	551					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCACCAAGCCCAAAGTGAGCC	0.637000														7			4		0	0	0.000602	0	0
MAP7D2	256714	broad.mit.edu	37	X	20074887	20074887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:20074887C>T	uc010nfo.2	-	3	512	c.395G>A	c.(394-396)cGc>cAc	p.R132H	MAP7D2_uc004czq.2_Missense_Mutation_p.R3H|MAP7D2_uc011mji.2_Missense_Mutation_p.R88H|MAP7D2_uc004czr.2_Missense_Mutation_p.R132H|MAP7D2_uc011mjj.2_Missense_Mutation_p.R132H|MAP7D2_uc004czs.1_Missense_Mutation_p.R88H	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	132										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						CAGGGACCGGCGCATCATCGC	0.562000														0			24		0	0	0.005443	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898773	112898773	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:112898773C>T	uc004bei.2	+	8	1837	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	PALM2-AKAP2_uc004bej.4_Silent_p.L317L|PALM2-AKAP2_uc004bek.4_Silent_p.L317L|PALM2-AKAP2_uc004bel.1_Silent_p.L127L|PALM2-AKAP2_uc011lwi.2_Silent_p.L175L|PALM2-AKAP2_uc004bem.3_Silent_p.L175L|PALM2-AKAP2_uc010mtw.1_Silent_p.L135L|PALM2-AKAP2_uc011lwj.2_Silent_p.L86L|PALM2-AKAP2_uc004ben.3_Silent_p.L86L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	86							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TGCAGTGGTTCTGGTGGGCGG	0.582000														28			27		0	0	0.006320	0	0
VIT	5212	broad.mit.edu	37	2	37041342	37041342	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:37041342G>A	uc002rpl.3	+	15	2222	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	VIT_uc002rpm.3_Silent_p.A625A|VIT_uc010ezv.3_Silent_p.A603A|VIT_uc010ezw.3_Silent_p.A604A	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	625	VWFA 2.					proteinaceous extracellular matrix		p.A640V(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCACCTATGCGATAGGCGTTG	0.522000														19			6		0	0	0.001984	0	0
COL12A1	1303	broad.mit.edu	37	6	75890910	75890910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:75890910C>T	uc021zbv.1	-	9	1944	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.D637N|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.D295N	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	637	Fibronectin type-III 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAACTAAGATCCTTTGGAGGG	0.318000														49			11		0	0	0.000978	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611016	37611017	+	Nonsense_Mutation	DNP	AC	GA	GA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:37611016_37611017AC>GA	uc003xke.4	+	10	903_904	c.788_789AC>GA	c.(787-789)tac>tGA	p.Y263*		NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	263	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCTGAGTGCTACACTGCTATGA	0.495000														22			9		0	0	0.004672	0	0
GLI2	2736	broad.mit.edu	37	2	121748125	121748125	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:121748125C>T	uc010flp.3	+	12	4665	c.4635C>T	c.(4633-4635)acC>acT	p.T1545T	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.T1217T|GLI2_uc002tmu.4_Silent_p.T1200T	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1545					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)				CCCGCCTCACCACCCCCCGAA	0.622000														62			30		0	0	0.002836	0	0
POTEC	388468	broad.mit.edu	37	18	14542791	14542791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:14542791C>T	uc010dln.3	-	0	809	c.355G>A	c.(355-357)Gct>Act	p.A119T	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	119								p.A119T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCTCCCCAAGCGCCCACGTTG	0.597000														69			8		0	0	0.008291	0	0
EMX2	2018	broad.mit.edu	37	10	119307636	119307636	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:119307636G>C	uc001ldh.4	+	2	1475	c.652G>C	c.(652-654)Ggc>Cgc	p.G218R	EMX2_uc001ldi.4_Missense_Mutation_p.R156T	NM_004098	NP_004089	Q04743	EMX2_HUMAN	Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 1, mRNA.	218						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GGAGGAAGAAGGCTCAGATTC	0.493000														14			3		0	0	0.004672	0	0
DNMBP	23268	broad.mit.edu	37	10	101715238	101715238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:101715238G>A	uc001kqj.2	-	3	2085	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	665					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGACGGTGTCGAGATAGGAGC	0.592000														12			6		0	0	0.001168	0	0
STAG3	10734	broad.mit.edu	37	7	99802320	99802321	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:99802320_99802321GG>AA	uc003utx.1	+	26	3028_3029	c.2873_2874GG>AA	c.(2872-2874)agg>aAA	p.R958K	STAG3_uc011kjk.1_Missense_Mutation_p.R900K|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.R182K	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	958					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			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)					ATCGAGATGAGGGACCTGGCCC	0.564000														16			17		0	0	0.004672	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598433	151598433	+	Silent	SNP	C	T	T	rs145165680		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:151598433C>T	uc003ezf.2	+	2	207	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGATTGAGTTCGTTGTGGGAG	0.423000														126			40		0	0	0.002222	0	0
ANK1	286	broad.mit.edu	37	8	41585482	41585482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:41585482C>T	uc003xok.3	-	3	355	c.271G>A	c.(271-273)Gat>Aat	p.D91N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D91N|ANK1_uc003xoj.3_Missense_Mutation_p.D91N|ANK1_uc003xol.3_Missense_Mutation_p.D91N|ANK1_uc003xom.3_Missense_Mutation_p.D124N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	91	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCACCTCATCCTGCCCGGCT	0.602000														35			23		0	0	0.003954	0	0
CNTN1	1272	broad.mit.edu	37	12	41421698	41421698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:41421698C>T	uc001rmm.1	+	21	2863	c.2750C>T	c.(2749-2751)tCt>tTt	p.S917F	CNTN1_uc001rmn.1_Missense_Mutation_p.S906F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	917	Fibronectin type-III 4.				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)				TCAGTAAGGTCTGGTTCACGC	0.393000														24			14		0	0	0.004007	0	0
SYNE1	23345	broad.mit.edu	37	6	152823773	152823773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:152823773C>T	uc021zhb.1	-	7	1106	c.883G>A	c.(883-885)Gat>Aat	p.D295N	SYNE1_uc003qot.4_Missense_Mutation_p.D302N|SYNE1_uc003qou.4_Missense_Mutation_p.D295N|SYNE1_uc010kjb.1_Missense_Mutation_p.D295N|SYNE1_uc003qpa.1_Missense_Mutation_p.D295N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	295					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTACATCATCCTCTTGCCCA	0.368000										HNSCC(10;0.0054)				25			16		0	0	0.007413	0	0
HSPA7	3311	broad.mit.edu	37	1	161577045	161577046	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:161577045_161577046CC>TT	uc010pkp.1	+	0	1197_1198	c.965_966CC>TT	c.(964-966)gcc>gTT	p.A322V						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		GTGGAGAAGGCCCTGCGGGATG	0.609000														23			6		0	0	0.004672	0	0
NOX5	79400	broad.mit.edu	37	15	69335131	69335131	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:69335131C>T	uc002ars.2	+	9	1674	c.1633C>T	c.(1633-1635)Caa>Taa	p.Q545*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Q499*|NOX5_uc002arp.2_Nonsense_Mutation_p.Q527*|NOX5_uc010bid.2_Nonsense_Mutation_p.Q510*|NOX5_uc010bie.2_Nonsense_Mutation_p.Q345*|NOX5_uc002arr.2_Nonsense_Mutation_p.Q517*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	545	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAGAAAGAGTCAAAGGTCGTC	0.537000														16			14		0	0	0.003163	0	0
SIGLEC17P	284367	broad.mit.edu	37	19	51671596	51671596	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51671596G>A	uc010ycv.2	+	2	745	c.735G>A	c.(733-735)acG>acA	p.T245T	SIGLEC17P_uc010ycu.2_Silent_p.T245T|SIGLEC17P_uc002pvy.4_Silent_p.T245T|SIGLEC17P_uc002pvz.4_Silent_p.T245T					Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA.																		GTGTGACCACGGAGAGAACCA	0.622000														6			3		0	0	0.004672	0	0
PUS1	80324	broad.mit.edu	37	12	132428095	132428095	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:132428095C>T	uc001ujf.3	+	5	1703	c.1248C>T	c.(1246-1248)ccC>ccT	p.P416P	PUS1_uc001ujg.3_Silent_p.P388P|PUS1_uc001ujh.3_Silent_p.P388P|PUS1_uc001uji.3_Silent_p.P363P	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	416						mitochondrion	RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TGCCCAGTCCCCTGGAAGGCA	0.607000														43			8		0	0	0.006214	0	0
CSH2	1443	broad.mit.edu	37	17	61949534	61949534	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61949534G>A	uc002jch.3	-	4	721	c.606C>T	c.(604-606)ttC>ttT	p.F202F	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.F107F	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	202					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCATGCGCAGGAATGTCTCGA	0.582000														71			28		0	0	0.007291	0	0
TP63	8626	broad.mit.edu	37	3	189608623	189608623	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:189608623G>A	uc003fry.2	+	12	1787	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T472T|TP63_uc003fsd.2_Intron|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.T387T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	566	SAM.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T566M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTATTTCACGACCCAGGGGC	0.433000										HNSCC(45;0.13)				23			21		0	0	0.003954	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927162	130927162	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:130927162G>A	uc001uil.2	-	7	900	c.684C>T	c.(682-684)ttC>ttT	p.F228F	RIMBP2_uc001uim.3_Silent_p.F136F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	228	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAAAGTCCACGAAGTTGGAGG	0.602000														17			9		0	0	0.006214	0	0
FBN2	2201	broad.mit.edu	37	5	127674737	127674737	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:127674737C>T	uc003kuu.3	-	25	3799	c.3360G>A	c.(3358-3360)agG>agA	p.R1120R	FBN2_uc003kuv.2_Silent_p.R1087R	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1120	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGGAGAAATCCTGCACTCGT	0.453000														13			22		0	0	0.003954	0	0
SCN10A	6336	broad.mit.edu	37	3	38770293	38770293	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:38770293G>A	uc003ciq.3	-	14	2380	c.2380C>T	c.(2380-2382)Ctg>Ttg	p.L794L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	794					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)	ATGATGGCCAGGATGATGGTG	0.517000														55			21		0	0	0.002299	0	0
DCC	1630	broad.mit.edu	37	18	50683829	50683829	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:50683829G>A	uc002lfe.2	+	7	1981	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	DCC_uc010xdr.1_Silent_p.A303A|DCC_uc010dpf.2_Silent_p.A110A	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	455	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGCAGAAGCGAAAGGGAACA	0.502000														25			35		0	0	0.003271	0	0
GPR113	165082	broad.mit.edu	37	2	26534181	26534181	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:26534181G>A	uc002rhe.4	-	10	2415	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S	GPR113_uc010yky.1_Silent_p.S736S|GPR113_uc002rhb.1_Silent_p.S408S|GPR113_uc010eyk.1_Silent_p.S606S|GPR113_uc002rhc.1_Silent_p.S408S|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	805					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGGAAATAGGAGATCTTGT	0.612000														11			4		0	0	0.000602	0	0
ASIC2	40	broad.mit.edu	37	17	31355347	31355347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:31355347G>A	uc002hht.3	-	3	1924	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	ASIC2_uc002hhu.3_Missense_Mutation_p.P300S	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	300					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGTAAACAGGAAAAAAGTCG	0.577000														30			5		0	0	0.000602	0	0
ADAM33	80332	broad.mit.edu	37	20	3655171	3655171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:3655171G>A	uc002wit.3	-	5	667	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ADAM33_uc002wir.1_Missense_Mutation_p.P194S|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.P194S|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.P206S|ADAM33_uc010zqh.1_Missense_Mutation_p.P194S	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	194					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGACCACCAGGAAGGCTGGTC	0.572000														30			13		0	0	0.004007	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397041	3397042	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:3397041_3397042GG>AA	uc001akg.4	+	14	2268_2269	c.2020_2021GG>AA	c.(2020-2022)gga>AAa	p.G674K	ARHGEF16_uc001aki.3_Missense_Mutation_p.G386K|ARHGEF16_uc001akj.3_Missense_Mutation_p.G386K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.G378K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	674	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCTCCGGGACGGAGAGACGGGA	0.673000														3			6		0	0	0.004672	0	0
OR1C1	26188	broad.mit.edu	37	1	247920864	247920864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247920864G>A	uc010pza.2	-	0	845	c.845C>T	c.(844-846)gCt>gTt	p.A282V		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A282P(1)		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)			CAGCATCGGAGCCACCATTGA	0.473000														44			37		0	0	0.007835	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299259	186299259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:186299259C>T	uc003fqi.3	+	4	1291	c.556C>T	c.(556-558)Caa>Taa	p.Q186*		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	186					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.Q186Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TGGGCGCTTCCAAATGACCCA	0.507000														38			35		0	0	0.005524	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994350	83994350	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:83994350C>T	uc002fha.3	+	4	630	c.630C>T	c.(628-630)ccC>ccT	p.P210P	OSGIN1_uc002fhb.3_Silent_p.P127P|OSGIN1_uc002fhc.3_Silent_p.P127P	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	210					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGAACCTCCCCGGGGGAGCCT	0.657000														10			10		0	0	0.008291	0	0
KIAA1191	57179	broad.mit.edu	37	5	175774788	175774788	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:175774788G>A	uc003mdw.3	-	8	1105	c.733C>T	c.(733-735)Cga>Tga	p.R245*	KIAA1191_uc003mdx.3_Nonsense_Mutation_p.R226*|KIAA1191_uc003mdy.3_Nonsense_Mutation_p.R245*|KIAA1191_uc003mea.3_Nonsense_Mutation_p.R38*|KIAA1191_uc003mdz.3_Non-coding_Transcript	NM_020444	NP_001073152	Q96A73	K1191_HUMAN	Homo sapiens KIAA1191 (KIAA1191), transcript variant 1, mRNA.	245							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.101)		TGGGCTCCTCGGTAGGCCTGG	0.512000														12			23		0	0	0.001882	0	0
GFRA1	2674	broad.mit.edu	37	10	117849277	117849277	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:117849277A>G	uc001lcj.3	-	8	1870	c.1172T>C	c.(1171-1173)gTt>gCt	p.V391A	GFRA1_uc001lci.3_Missense_Mutation_p.V386A|GFRA1_uc009xyr.3_Missense_Mutation_p.V386A	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	391					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CGGTGGCAAAACATGAGTGGG	0.562000														46			35		0	0	0.004878	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661858	77661858	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:77661858G>A	uc011cbx.2	+	4	3485	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	SHROOM3_uc011cbz.1_Silent_p.G668G|SHROOM3_uc003hkf.1_Silent_p.G719G|SHROOM3_uc003hkg.3_Silent_p.G622G	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	844					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.G843V(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TAGGCAACGGGGAGCAGCACT	0.592000														38			16		0	0	0.007413	0	0
BDP1	55814	broad.mit.edu	37	5	70820117	70820117	+	Silent	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:70820117T>G	uc003kbp.1	+	24	6002	c.5739T>G	c.(5737-5739)ccT>ccG	p.P1913P	BDP1_uc003kbo.3_Silent_p.P1913P|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1913					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.E1912G(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTCCTGAACCTGTTTCTGCTC	0.388000														40			23		0	0	0.003954	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:54307284C>T	uc002qcj.4	-	5	2730	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	NLRP12_uc010eqw.3_Missense_Mutation_p.G119E|NLRP12_uc002qch.4_Missense_Mutation_p.G836E|NLRP12_uc002qci.4_Missense_Mutation_p.G836E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G837E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	836					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGTGCATTTCCTGTCAGGTC	0.562000														24			10		0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456925	110456925	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:110456925A>T	uc003yne.3	+	37	4931	c.4827A>T	c.(4825-4827)gaA>gaT	p.E1609D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1609	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V1608V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGTAGAAGAAAGTAGTGAGG	0.368000										HNSCC(38;0.096)				119			94		0	0	0.003610	0	0
UBR5	51366	broad.mit.edu	37	8	103359165	103359165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:103359165G>A	uc003ykr.2	-	5	997	c.542C>T	c.(541-543)cCa>cTa	p.P181L	UBR5_uc003yks.2_Missense_Mutation_p.P181L	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	181					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GACAGATGCTGGAATAACTGG	0.517000														35			37		0	0	0.006230	0	0
FAM83H	286077	broad.mit.edu	37	8	144809125	144809125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:144809125G>A	uc003yzk.3	-	4	2575	c.2506C>T	c.(2506-2508)Ctc>Ttc	p.L836F		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	836					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGGCAGAGAGGAAGCGGGAA	0.701000														13			4		0	0	0.000248	0	0
SPAG17	200162	broad.mit.edu	37	1	118516144	118516144	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:118516144G>A	uc001ehk.2	-	43	6113	c.6045C>T	c.(6043-6045)tcC>tcT	p.S2015S	SPAG17_uc021osr.1_Silent_p.S525S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2015						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGCAGCAAGGACTGGGTTG	0.398000														518			22		0	0	0.002299	0	0
C12orf60	144608	broad.mit.edu	37	12	14976469	14976469	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:14976469C>T	uc001rcj.4	+	1	804	c.600C>T	c.(598-600)tcC>tcT	p.S200S	C12orf60_uc021qvq.1_Silent_p.S200S	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	200										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CTGAGGATTCCAAAAATCCCA	0.408000														18			17		0	0	0.007413	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055512	72055512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:72055512G>A	uc001xms.3	+	1	1284	c.923G>A	c.(922-924)gGg>gAg	p.G308E	SIPA1L1_uc001xmt.3_Missense_Mutation_p.G308E|SIPA1L1_uc001xmu.3_Missense_Mutation_p.G308E|SIPA1L1_uc001xmv.3_Missense_Mutation_p.G308E	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	308					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAGAACTTGGGAAGTCATCA	0.413000														26			23		0	0	0.001882	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439922	150439922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:150439922G>A	uc022apw.1	+	5	1447	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.R232K	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		CTGCTCCAAAGAACTGGAGCT	0.587000														29			22		0	0	0.002299	0	0
TERT	7015	broad.mit.edu	37	5	1253879	1253879	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1253879C>T	uc003jcb.1	-	15	3421	c.3363G>A	c.(3361-3363)ccG>ccA	p.P1121P	TERT_uc003jbz.1_Silent_p.P317P|TERT_uc003jcc.1_Silent_p.P1058P|TERT_uc003jca.1_Silent_p.P1109P|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1121	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGGGCAGTGCCGGGTTGGCTG	0.667000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					7			13		0	0	0.004007	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752424	19752424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:19752424C>T	uc009zzj.3	-	2	442	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	113					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCGACGATCTCCTTGCCGATG	0.532000														70			52		0	0	0.003610	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885780	88885780	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:88885780G>A	uc003ydz.3	-	0	517	c.420C>T	c.(418-420)tcC>tcT	p.S140S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	140										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCAGAAGGTGGGAATCCAAGT	0.562000														20			22		0	0	0.001882	0	0
OR5B12	390191	broad.mit.edu	37	11	58207436	58207436	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:58207436G>C	uc010rkh.2	-	0	211	c.189C>G	c.(187-189)aaC>aaG	p.N63K		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGGGAGAGGTTACTGAGGA	0.463000														1			12		0	0	0.000978	0	0
PRDX6	9588	broad.mit.edu	37	1	173454641	173454641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:173454641C>T	uc001giy.1	+	2	445	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C		NM_004905	NP_004896	P30041	PRDX6_HUMAN	Homo sapiens peroxiredoxin 6 (PRDX6), mRNA.	132	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						TGTGACAGCTCGTGTGGTAGG	0.473000														47			21		0	0	0.001882	0	0
SIN3A	25942	broad.mit.edu	37	15	75676624	75676624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:75676624G>A	uc002bai.3	-	16	3435	c.3176C>T	c.(3175-3177)tCa>tTa	p.S1059L	SIN3A_uc002baj.3_Missense_Mutation_p.S1059L|SIN3A_uc010uml.2_Missense_Mutation_p.S1059L	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1059					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATTCTCATCTGACATTAGCTG	0.483000														124			49		0	0	0.003610	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843293	22843294	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:22843293_22843294GG>AA	uc002zwc.1	-	3	1206_1207	c.430_431CC>TT	c.(430-432)cct>TTt	p.P144F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.P144F	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGTAATCAAAGGAGAAGGTAAT	0.356000														95			23		0	0	0.004672	0	0
ITIH5	80760	broad.mit.edu	37	10	7621809	7621809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:7621809C>T	uc021pmv.1	-	8	1433	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	ITIH5_uc021pmu.1_Missense_Mutation_p.D229N|ITIH5_uc001ijr.2_Missense_Mutation_p.D443N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	443	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGCCTGAAGTCCACGTCGTTG	0.627000														39			13		0	0	0.001368	0	0
OVCH2	341277	broad.mit.edu	37	11	7726217	7726217	+	Silent	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:7726217G>T	uc010rbf.2	-	1	93	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GCCCACAACTGGGAGCTGAGA	0.413000														16			4		0.00024832	0.000340169	0.000248	1	0
ATF7IP2	80063	broad.mit.edu	37	16	10524750	10524750	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:10524750C>A	uc002czw.3	+	1	432	c.273C>A	c.(271-273)ttC>ttA	p.F91L	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.F91L|ATF7IP2_uc002czv.3_Missense_Mutation_p.F91L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.F91L(1)		large_intestine(3)	3						GTAAAGTATTCTCTCAGAATT	0.333000														23			21		2.89027e-11	3.98836e-11	0.002299	1	0
SIM2	6493	broad.mit.edu	37	21	38117419	38117419	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:38117419C>T	uc002yvr.2	+	9	1614	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	SIM2_uc002yvq.3_Silent_p.L520L	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	520	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TAGGCACAGCCTGGTGCCAAG	0.627000														6			6		0	0	0.001984	0	0
WDR3	10885	broad.mit.edu	37	1	118494990	118494990	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:118494990C>T	uc010oxe.1	+	17	2041	c.1975C>T	c.(1975-1977)Cag>Tag	p.Q659*	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	659						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAAGATTAAACAGTGGGATGC	0.373000														248			26		0	0	0.004656	0	0
TSKU	25987	broad.mit.edu	37	11	76507464	76507464	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:76507464C>T	uc021qno.1	+	0	804	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TSKU_uc001oxt.3_Silent_p.N268N	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	268						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CCAAGCTTAACTGGGCAGGAG	0.667000														12			70		0	0	0.003610	0	0
IMMT	10989	broad.mit.edu	37	2	86385725	86385725	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:86385725C>G	uc002sqz.4	-	9	1540	c.1152G>C	c.(1150-1152)tgG>tgC	p.W384C	IMMT_uc002sqy.4_Missense_Mutation_p.W125C|IMMT_uc010yte.2_Missense_Mutation_p.W337C|IMMT_uc002srb.4_Missense_Mutation_p.W373C|IMMT_uc002sra.4_Missense_Mutation_p.W383C|IMMT_uc010ytd.2_Missense_Mutation_p.W372C|IMMT_uc002src.1_Missense_Mutation_p.W125C	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	384						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCATTCCTTTCCACCCAGGAA	0.403000														8			4		0	0	0.000248	0	0
SCN9A	6335	broad.mit.edu	37	2	167129258	167129258	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:167129258T>A	uc010fpl.3	-	16	3310	c.2969A>T	c.(2968-2970)tAt>tTt	p.Y990F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1001						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTGTTTCACATAATTTATTCC	0.348000														24			7		0	0	0.003080	0	0
PTGER2	5732	broad.mit.edu	37	14	52794146	52794146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:52794146G>A	uc001wzr.3	+	1	1302	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	351						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TACACAGTCAGATGCCAGTAA	0.398000														43			24		0	0	0.003954	0	0
UNC79	57578	broad.mit.edu	37	14	94044228	94044228	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94044228A>T	uc001ybv.1	+	14	1804	c.1721A>T	c.(1720-1722)aAt>aTt	p.N574I	UNC79_uc001ybs.1_Missense_Mutation_p.N574I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	751						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTTCAGCACAATATGCTTAGT	0.458000														98			90		0	0	0.003610	0	0
ZNF554	115196	broad.mit.edu	37	19	2834600	2834600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:2834600G>A	uc002lwm.2	+	4	1565	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	ZNF554_uc002lwl.2_Missense_Mutation_p.R405Q	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		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)		CAGCACGAGCGAACTCACACG	0.547000														24			11		0	0	0.001855	0	0
ASF1B	55723	broad.mit.edu	37	19	14232369	14232369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:14232369G>A	uc002mye.3	-	2	549	c.377C>T	c.(376-378)cCg>cTg	p.P126L		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA.	126	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CTTCATGGGCGGGTTCTCACG	0.542000														43			31		0	0	0.003755	0	0
DOCK4	9732	broad.mit.edu	37	7	111430618	111430618	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:111430618G>A	uc003vfy.3	-	31	3587	c.3318C>T	c.(3316-3318)ttC>ttT	p.F1106F	DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Silent_p.F511F|DOCK4_uc003vfx.3_Silent_p.F1070F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1070	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCACTTCTAGGAAGGGGCCAA	0.403000														23			11		0	0	0.001368	0	0
VSIG2	23584	broad.mit.edu	37	11	124618332	124618332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:124618332C>T	uc001qas.3	-	5	881	c.805G>A	c.(805-807)Gag>Aag	p.E269K	VSIG2_uc001qat.3_Missense_Mutation_p.E269K	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	269						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		TTCCCCCTCTCTTTCTGGAAC	0.607000														2			29		0	0	0.003755	0	0
TOP2B	7155	broad.mit.edu	37	3	25665114	25665114	+	Silent	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:25665114A>C	uc011awn.1	-	20	2662	c.2619T>G	c.(2617-2619)ggT>ggG	p.G873G	TOP2B_uc003cdj.2_Silent_p.G868G|TOP2B_uc021wug.1_Silent_p.G868G	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	873					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGCCCTCAGCACCATTTATTA	0.428000														33			19		0	0	0.008871	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924378	105924378	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:105924378G>A	uc002tcq.3	-	1	465	c.381C>T	c.(379-381)aaC>aaT	p.N127N	TGFBRAP1_uc002tcr.4_Silent_p.N127N	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	127	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CACTCACAGGGTTCTCGTTCA	0.562000														38			17		0	0	0.008871	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184054	26184054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:26184054C>T	uc003ngt.3	+	0	31	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CGCTCCCGCCCCGAAGAAGGG	0.527000														67			21		0	0	0.008871	0	0
ZNF592	9640	broad.mit.edu	37	15	85341835	85341836	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:85341835_85341836CC>TT	uc002bld.3	+	7	3089_3090	c.2753_2754CC>TT	c.(2752-2754)ccc>cTT	p.P918L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	918					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACGGTGTTCCCCGAAATGTGG	0.609000														33			5		0	0	0.004672	0	0
PARK2	5071	broad.mit.edu	37	6	161969965	161969965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:161969965G>A	uc021zhu.1	-	9	1236	c.1145C>T	c.(1144-1146)cCt>cTt	p.P382L	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Missense_Mutation_p.P144L|PARK2_uc010kkd.3_Missense_Mutation_p.P144L|PARK2_uc003qtx.4_Missense_Mutation_p.P335L|PARK2_uc021zhs.1_Intron|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Missense_Mutation_p.P307L|PARK2_uc003qtz.4_Missense_Mutation_p.P186L|PARK2_uc021zhv.1_Missense_Mutation_p.P256L|PARK2_uc021zhw.1_Missense_Mutation_p.P144L|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Intron|PARK2_uc010kke.1_Missense_Mutation_p.P354L|PARK2_uc011egf.2_Missense_Mutation_p.P9L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	335					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCCACAGCCAGGGCGGGGGCA	0.612000														39			8		0	0	0.004482	0	0
FAM111A	63901	broad.mit.edu	37	11	58919359	58919359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:58919359C>T	uc010rkp.2	+	4	445	c.218C>T	c.(217-219)cCc>cTc	p.P73L	FAM111A_uc010rkq.2_Missense_Mutation_p.P73L|FAM111A_uc010rkr.2_Missense_Mutation_p.P73L|FAM111A_uc001nno.3_Missense_Mutation_p.P73L|FAM111A_uc001nnp.3_Missense_Mutation_p.P73L|FAM111A_uc001nnq.3_Missense_Mutation_p.P73L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	73					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGACCATGCCCCAAAATAGG	0.403000														22			47		0	0	0.003610	0	0
MAS1	4142	broad.mit.edu	37	6	160328698	160328698	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:160328698C>T	uc003qsz.3	+	0	725	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	237					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCATTATATTCCTCATCTTCG	0.478000														21			20		0	0	0.001523	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432825	111432825	+	Missense_Mutation	SNP	G	C	C	rs146970589	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:111432825G>C	uc003dya.3	+	2	1286	c.716G>C	c.(715-717)aGt>aCt	p.S239T	PLCXD2_uc003dxz.3_Missense_Mutation_p.S239T	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	239					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AACACCACAAGTGTGCGCAAA	0.532000														31			10		0	0	0.008291	0	0
FUT3	2525	broad.mit.edu	37	19	5844392	5844392	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:5844392G>A	uc002mdk.2	-	1	556	c.459C>T	c.(457-459)ttC>ttT	p.F153F	FUT3_uc002mdm.2_Silent_p.F153F|FUT3_uc002mdj.2_Silent_p.F153F|FUT3_uc002mdl.2_Silent_p.F153F|FUT3_uc021unn.1_Silent_p.F153F	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	153					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGGTGAGATTGAAGTATCTGT	0.647000														24			22		0	0	0.002780	0	0
SPTA1	6708	broad.mit.edu	37	1	158637817	158637817	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158637817C>T	uc001fst.1	-	14	2068	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	623					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)					CAAAGACTTGCTGCTTTTGAA	0.393000														79			56		0	0	0.003610	0	0
ZNF438	220929	broad.mit.edu	37	10	31138274	31138274	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:31138274G>A	uc010qdz.2	-	6	1495	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	ZNF438_uc001ivn.3_Nonsense_Mutation_p.Q305*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.Q344*|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Nonsense_Mutation_p.Q354*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.Q344*|ZNF438_uc010qea.2_Nonsense_Mutation_p.Q354*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.Q354*|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CAGGCACTCTGCTGTGACACT	0.483000														27			38		0	0	0.005524	0	0
AGGF1	55109	broad.mit.edu	37	5	76342421	76342421	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:76342421A>G	uc003ket.3	+	5	1502	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	374					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGGTGAAATTACAGACTCTCA	0.368000														101			192		0	0	0.003610	0	0
BMP3	651	broad.mit.edu	37	4	81966962	81966962	+	Silent	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:81966962T>A	uc003hmg.4	+	1	707	c.387T>A	c.(385-387)tcT>tcA	p.S129S		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	129					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACATTTTGTCTGCCACACTGT	0.413000														48			32		0	0	0.002445	0	0
FRAS1	80144	broad.mit.edu	37	4	79297021	79297021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:79297021G>A	uc003hlb.2	+	25	3720	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	FRAS1_uc003hkw.3_Missense_Mutation_p.E1094K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1093					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCTCTAATGAAACATGTTC	0.443000														19			17		0	0	0.001523	0	0
CCDC170	80129	broad.mit.edu	37	6	151859312	151859312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:151859312G>A	uc003qol.3	+	2	408	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	107																	CAGAGTTCAGGAACTAGAAGA	0.408000														19			27		0	0	0.005443	0	0
NYAP2	57624	broad.mit.edu	37	2	226447205	226447205	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:226447205C>T	uc002voe.2	+	3	1247	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.L128L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	358	Pro-rich.																GCTTACCCCTCTGGAGGTCAC	0.657000														9			5		0	0	0.000602	0	0
AXL	558	broad.mit.edu	37	19	41762487	41762487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41762487G>A	uc010ehj.3	+	17	2357	c.2167G>A	c.(2167-2169)Gac>Aac	p.D723N	AXL_uc010ehk.3_Missense_Mutation_p.D714N	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	723	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GAGTCTAGCTGACCGTGTCTA	0.567000														26			15		0	0	0.004007	0	0
ADD2	119	broad.mit.edu	37	2	70904955	70904955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:70904955C>T	uc021vjc.1	-	11	1703	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.E480K|ADD2_uc002sgz.3_Missense_Mutation_p.E480K|ADD2_uc010fdt.2_Missense_Mutation_p.E480K|ADD2_uc002shc.2_Missense_Mutation_p.E480K|ADD2_uc010fdu.2_Missense_Mutation_p.E496K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	480					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTGGGTTTTCGATGCGAATC	0.517000														14			5		0	0	0.001984	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958682	57958682	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:57958682C>T	uc010rka.2	+	0	777	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCTTCTCCACCTGCGCCTCCC	0.572000														14			32		0	0	0.008361	0	0
EPHB2	2048	broad.mit.edu	37	1	23222940	23222940	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:23222940G>A	uc009vqj.1	+	8	1879	c.1734G>A	c.(1732-1734)acG>acA	p.T578T	EPHB2_uc001bge.3_Silent_p.T579T|EPHB2_uc001bgf.3_Silent_p.T578T|EPHB2_uc010odu.2_Intron	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	578					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGGAGTACACGGACAAGCTGC	0.597000														33			6		0	0	0.003080	0	0
ELTD1	64123	broad.mit.edu	37	1	79392653	79392653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:79392653G>A	uc001diq.4	-	7	1157	c.1001C>T	c.(1000-1002)tCa>tTa	p.S334L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	334					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGAAATTACTGAAGATATGAC	0.323000														32			18		0	0	0.004990	0	0
EYA1	2138	broad.mit.edu	37	8	72267115	72267115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:72267115G>A	uc003xyu.3	-	2	666	c.26C>T	c.(25-27)cCg>cTg	p.P9L	EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Missense_Mutation_p.P9L|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.P9L|EYA1_uc011lfe.2_Missense_Mutation_p.P9L|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	9					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACGGCTATGCGGGCTGGTTAG	0.453000														83			54		0	0	0.003610	0	0
RPL13A	23521	broad.mit.edu	37	19	49995048	49995048	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:49995048C>T	uc002pny.3	+	7	610	c.588C>T	c.(586-588)ctC>ctT	p.L196L	RPL13A_uc002pnz.3_Silent_p.L135L	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	196					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CAGAGGTCCTCAAGACCCACG	0.527000														4			21		0	0	0.002299	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465165	48465165	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:48465165C>A	uc003csw.2	-	2	1126	c.856G>T	c.(856-858)Gag>Tag	p.E286*	PLXNB1_uc003csu.2_Nonsense_Mutation_p.E286*|PLXNB1_uc003csx.2_Nonsense_Mutation_p.E286*|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	286	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCGCCACCTCCCTGGACGTG	0.672000														16			10		3.07112e-06	4.21858e-06	0.000978	1	0
STARD13	90627	broad.mit.edu	37	13	33681014	33681014	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:33681014C>T	uc001uuw.3	-	12	3231	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	STARD13_uc001uuu.3_Silent_p.E1027E|STARD13_uc001uuv.3_Silent_p.E917E|STARD13_uc001uux.3_Silent_p.E1000E	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	1035	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTTCCTCATGCTCCACGGAGA	0.537000														37			36		0	0	0.003755	0	0
RFX5	5993	broad.mit.edu	37	1	151315884	151315884	+	Silent	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:151315884A>G	uc001exv.1	-	9	1006	c.792T>C	c.(790-792)tcT>tcC	p.S264S	RFX5_uc001exw.1_Silent_p.S264S|RFX5_uc010pcx.1_Silent_p.S224S	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	264						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTGGTTTAGATGACCGTT	0.517000														21			18		0	0	0.007413	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048186	102048186	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:102048186G>A	uc001kqx.1	-	15	2768	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Silent_p.S748S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	795					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCTCACCACGGGAGAGTCTCC	0.517000														58			48		0	0	0.003610	0	0
GPR116	221395	broad.mit.edu	37	6	46826784	46826784	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:46826784C>T	uc003oyo.3	-	16	3145	c.2856G>A	c.(2854-2856)acG>acA	p.T952T	GPR116_uc011dwj.1_Silent_p.T507T|GPR116_uc011dwk.1_Silent_p.T381T|GPR116_uc003oyp.3_Silent_p.T810T|GPR116_uc003oyq.3_Silent_p.T952T|GPR116_uc010jzi.1_Silent_p.T624T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)|p.T952M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACACTTCGTTTCGCCGC	0.483000														25			29		0	0	0.008361	0	0
GLG1	2734	broad.mit.edu	37	16	74499706	74499706	+	Silent	SNP	G	A	A	rs151123937	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:74499706G>A	uc002fcx.3	-	18	2585	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	GLG1_uc002fcw.4_Silent_p.I834I|GLG1_uc002fcy.4_Silent_p.I845I|GLG1_uc002fcz.4_Silent_p.I262I	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	845						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCAGACATTCGATAATCTATG	0.438000														67			18		0	0	0.008871	0	0
TTBK1	84630	broad.mit.edu	37	6	43251542	43251542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:43251542G>A	uc003ouq.1	+	13	3343	c.3064G>A	c.(3064-3066)Gac>Aac	p.D1022N	TTBK1_uc021yzs.1_Missense_Mutation_p.D310N	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	1022						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)			GGCCCTTGCAGACGGGCCAGC	0.677000														39			6		0	0	0.001168	0	0
OSMR	9180	broad.mit.edu	37	5	38923310	38923310	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:38923310G>A	uc003jln.2	+	12	2226	c.1824G>A	c.(1822-1824)agG>agA	p.R608R	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	608	Fibronectin type-III 3.				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)					CTACAAAAAGGATTGCTTGTT	0.348000														18			17		0	0	0.007413	0	0
RFWD3	55159	broad.mit.edu	37	16	74695200	74695200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:74695200G>A	uc002fda.3	-	1	246	c.148C>T	c.(148-150)Cca>Tca	p.P50S	RFWD3_uc010cgq.3_Missense_Mutation_p.P50S	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	50					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AGGATGGATGGTACCCCCTGG	0.627000														74			20		0	0	0.008871	0	0
LRP1B	53353	broad.mit.edu	37	2	141264456	141264456	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141264456G>A	uc002tvj.1	-	52	9402	c.8430C>T	c.(8428-8430)ttC>ttT	p.F2810F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2810	LDL-receptor class A 18.				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)		TATGGCACATGAAAGCATTTT	0.388000										TSP Lung(27;0.18)				21			38		0	0	0.003755	0	0
C6orf70	55780	broad.mit.edu	37	6	170155474	170155474	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:170155474G>T	uc003qxg.1	+	2	304	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Nonsense_Mutation_p.E91*|C6orf70_uc010kky.1_5'UTR	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	91						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GGGGCAATTTGAAATTCGATA	0.463000														53			14		0.000308642	0.000422611	0.003163	1	0
MAP4K3	8491	broad.mit.edu	37	2	39499443	39499443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:39499443G>A	uc002rro.3	-	25	2045	c.1954C>T	c.(1954-1956)Cct>Tct	p.P652S	MAP4K3_uc002rrp.3_Missense_Mutation_p.P631S|MAP4K3_uc010yns.2_Missense_Mutation_p.P205S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	652	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATTCTGTCAGGGAGTTTGTGT	0.368000														31			15		0	0	0.004007	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634318	70634318	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:70634318G>A	uc001xly.3	-	1	1576	c.822C>T	c.(820-822)atC>atT	p.I274I	SLC8A3_uc001xlw.3_Silent_p.I274I|SLC8A3_uc001xlx.3_Silent_p.I274I|SLC8A3_uc001xlz.3_Silent_p.I274I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	274					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)		CTGTCTCTATGATAATTCCTC	0.483000														33			12		0	0	0.002450	0	0
PLCB1	23236	broad.mit.edu	37	20	8678363	8678363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:8678363G>A	uc002wnb.3	+	10	1103	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	PLCB1_uc010zrb.1_Missense_Mutation_p.G266E|PLCB1_uc002wna.3_Missense_Mutation_p.G367E|PLCB1_uc002wnc.1_Missense_Mutation_p.G266E	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	367	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCTGGAAGGGACGGACTGCA	0.488000														46			42		0	0	0.002222	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261101	62261101	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:62261101C>T	uc001sqw.3	-	2	1688	c.106_splice	c.e2+1	p.A36_splice	FAM19A2_uc001sqx.3_Splice_Site_p.A36_splice|FAM19A2_uc001sqy.3_Splice_Site	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	36						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AAAAGCTTACCTTTATGATGG	0.333000														46			23		0	0	0.005443	0	0
RIN1	9610	broad.mit.edu	37	11	66102660	66102660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66102660G>A	uc001ohn.1	-	5	737	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.P99S|RIN1_uc010rpa.1_Missense_Mutation_p.P99S	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	204					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TTCAGCTGGGGCAACACTGGG	0.662000														14			6		0	0	0.001168	0	0
EVPL	2125	broad.mit.edu	37	17	74010615	74010615	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:74010615G>A	uc010wss.1	-	17	2559	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	EVPL_uc002jqi.2_Silent_p.F755F|EVPL_uc010wst.1_Silent_p.F225F	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	755	Globular 1.				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						TGCAGTTCTTGAACTGCTGGT	0.652000														23			14		0	0	0.004990	0	0
FLJ27352	145788	broad.mit.edu	37	15	55710426	55710426	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:55710426G>A	uc002ada.3	+	1	268	c.24G>A	c.(22-24)aaG>aaA	p.K8K	CCPG1_uc002acy.3_Intron|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Intron|DYX1C1_uc002adb.3_Intron	NM_001198784	NP_001185713			Homo sapiens uncharacterized LOC145788 (FLJ27352), mRNA.																		TTTAGGATAAGAAAAGTACTT	0.343000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									5			6		0	0	0.001168	0	0
TGM7	116179	broad.mit.edu	37	15	43572089	43572089	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:43572089C>A	uc001zrf.1	-	9	1417	c.1412G>T	c.(1411-1413)aGa>aTa	p.R471I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	471					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CAAAGAAGCTCTTTGGGGGCC	0.597000														31			29		2.47511e-08	3.41078e-08	0.008361	1	0
CILP2	148113	broad.mit.edu	37	19	19656741	19656741	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:19656741C>T	uc002nmw.4	+	7	3490	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	CILP2_uc002nmv.4_Silent_p.I1129I	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1129						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TTGGTGACATCCGCAGGGAGA	0.731000														9			8		0	0	0.006214	0	0
CHST4	10164	broad.mit.edu	37	16	71571069	71571069	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:71571069G>A	uc021tkt.1	+	0	489	c.489G>A	c.(487-489)gtG>gtA	p.V163V	CHST4_uc002fan.3_Silent_p.V163V|CHST4_uc002fao.3_Silent_p.V163V	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	163					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTTTGAGGTGGTGGAGAAGG	0.602000														24			27		0	0	0.007291	0	0
DYTN	391475	broad.mit.edu	37	2	207530685	207530685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:207530685C>T	uc002vbr.1	-	9	1166	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	350						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCGACAAATTCTTTCTTCCTG	0.383000														39			13		0	0	0.001368	0	0
POLN	353497	broad.mit.edu	37	4	2178024	2178024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:2178024C>T	uc003ger.2	-	6	1229	c.1217G>A	c.(1216-1218)aGa>aAa	p.R406K	POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Missense_Mutation_p.R406K	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	406					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CATTGTAAGTCTGTAGAGTGT	0.398000								DNA polymerases (catalytic subunits)						78			81		0	0	0.003610	0	0
ZNF229	7772	broad.mit.edu	37	19	44933922	44933922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:44933922C>T	uc002oze.1	-	5	1468	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.G339E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V344V(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGGCATGTCTCCCACAGGGGC	0.498000														37			11		0	0	0.001368	0	0
ICAM5	7087	broad.mit.edu	37	19	10404517	10404517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10404517G>A	uc002mnu.4	+	6	1674	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ICAM5_uc002mnv.4_Missense_Mutation_p.E412K	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	537	Ig-like C2-type 6.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGCCGTCATCGAGGGGCTGTT	0.662000														28			16		0	0	0.004990	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826965	96826965	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:96826965C>T	uc001kkb.3	-	3	576	c.481_splice	c.e3+1	p.A161_splice	CYP2C8_uc010qoa.2_Splice_Site_p.A91_splice|CYP2C8_uc010qoc.2_Splice_Site_p.A59_splice|CYP2C8_uc001kkc.3_Splice_Site|CYP2C8_uc010qob.2_Splice_Site_p.A75_splice|CYP2C8_uc021pwl.1_Splice_Site_p.A91_splice|CYP2C8_uc010qod.1_Splice_Site_p.A75_splice	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	161					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)	AGTCACCCACCCTTGGTTTTT	0.507000														77			29		0	0	0.002445	0	0
GPR156	165829	broad.mit.edu	37	3	119886636	119886636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119886636G>A	uc011bjf.2	-	8	2068	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	GPR156_uc011bjg.2_Missense_Mutation_p.S559F	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	563						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.A562D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGTGGAGAGGGAAGCCTCAGG	0.582000														30			31		0	0	0.001786	0	0
KRT222	125113	broad.mit.edu	37	17	38813978	38813978	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:38813978C>T	uc002hvc.2	-	3	536	c.471G>A	c.(469-471)ggG>ggA	p.G157G	KRT222_uc002hvb.2_Silent_p.G117G|KRT222_uc010cxc.3_Silent_p.G117G	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	157						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TGTCTTTTTTCCCACCTTGGA	0.308000														70			20		0	0	0.002780	0	0
CNTN3	5067	broad.mit.edu	37	3	74535700	74535700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:74535700G>A	uc003dpm.1	-	2	345	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	89	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTCTGTTGGGATTAATAACC	0.358000														31			29		0	0	0.007291	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812903	45812903	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:45812903C>T	uc011bai.2	-	5	865	c.741G>A	c.(739-741)caG>caA	p.Q247Q	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Silent_p.Q210Q	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	247					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGAAGAAGATCTGGGTGGCTG	0.587000														25			11		0	0	0.008291	0	0
ATP2A3	489	broad.mit.edu	37	17	3846787	3846787	+	Silent	SNP	C	T	T	rs143762354	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:3846787C>T	uc002fwy.2	-	10	1490	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ATP2A3_uc002fwz.2_Silent_p.E439E|ATP2A3_uc002fxa.2_Silent_p.E439E|ATP2A3_uc002fxb.2_Silent_p.E439E|ATP2A3_uc002fxc.2_Silent_p.E439E|ATP2A3_uc002fxd.2_Silent_p.E439E|ATP2A3_uc002fwx.2_Silent_p.E439E	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	439					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCTCCGTGGCCTCTCCCACCT	0.632000														40			33		0	0	0.004878	0	0
CEACAM3	1084	broad.mit.edu	37	19	42315244	42315244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:42315244G>A	uc002orn.1	+	6	804	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	CEACAM3_uc010eia.1_Intron|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	243						integral to membrane		p.R243Q(2)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATTTACTGCCGGATGGACCAC	0.552000														33			12		0	0	0.002450	0	0
SI	6476	broad.mit.edu	37	3	164766919	164766919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:164766919C>T	uc003fei.3	-	14	1774	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	571	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	p.T570K(1)|p.E571D(1)		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)	ACTTACTGCTCTGTGGCTATA	0.333000										HNSCC(35;0.089)				18			25		0	0	0.007291	0	0
SLIT2	9353	broad.mit.edu	37	4	20591308	20591308	+	Silent	SNP	C	T	T	rs145314495	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:20591308C>T	uc003gpr.1	+	29	3334	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	SLIT2_uc003gps.1_Silent_p.L1036L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1044	EGF-like 4.				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						TGCCCAGGACCTGAACCCCTG	0.502000														28			21		0	0	0.003954	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212737	134212737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:134212737C>T	uc001qhp.3	+	1	364	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	59					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTGGAGGATTCCACCTTCTGG	0.612000														0			18		0	0	0.006122	0	0
SELE	6401	broad.mit.edu	37	1	169697210	169697210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:169697210G>A	uc001ggm.4	-	7	1425	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	423	Sushi 4.				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	p.P423P(1)		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)					TTCACATGTGGGCTTCTCGTT	0.448000														72			54		0	0	0.003610	0	0
KCNK1	3775	broad.mit.edu	37	1	233802489	233802489	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:233802489C>T	uc010pxo.1	+	1	672	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	168						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCCTCTACTTCCACATCCGCT	0.607000														31			7		0	0	0.001984	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407957	75407957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:75407957C>T	uc001jut.4	-	3	1605	c.1453G>A	c.(1453-1455)Gtt>Att	p.V485I	SYNPO2L_uc001jus.4_Missense_Mutation_p.V261I	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	485	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGGAAAATAACCGAGGTGGTA	0.657000														9			5		0	0	0.001168	0	0
FAM169A	26049	broad.mit.edu	37	5	74078872	74078872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:74078872C>T	uc003kdm.3	-	11	1391	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	FAM169A_uc010izm.3_Missense_Mutation_p.E390K|FAM169A_uc003kdl.3_Missense_Mutation_p.E268K	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	450	Asp/Glu-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCTAAAACTTCACTAGTGGAG	0.393000														47			12		0	0	0.000978	0	0
C10orf88	80007	broad.mit.edu	37	10	124711492	124711492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:124711492G>A	uc001lgw.2	-	2	644	c.419C>T	c.(418-420)tCc>tTc	p.S140F	C10orf88_uc001lgx.2_Missense_Mutation_p.S42F	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	140								p.S140F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AGCATGTGTGGAGGACTCCAA	0.254000														19			10		0	0	0.000978	0	0
ABHD12B	145447	broad.mit.edu	37	14	51352526	51352526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:51352526C>T	uc001wys.3	+	6	590	c.575C>T	c.(574-576)aCt>aTt	p.T192I	ABHD12B_uc001wyr.3_Missense_Mutation_p.T115I|ABHD12B_uc001wyq.3_Missense_Mutation_p.T85I|ABHD12B_uc010any.3_Intron	NM_001206673	NP_001193602	Q7Z5M8	AB12B_HUMAN	Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 1, mRNA.	192							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GAGGGACTGACTACGGATGCC	0.517000														74			20		0	0	0.002299	0	0
BICD2	23299	broad.mit.edu	37	9	95480163	95480163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:95480163G>A	uc004asp.1	-	5	2231	c.2174C>T	c.(2173-2175)aCc>aTc	p.T725I	BICD2_uc004aso.1_Missense_Mutation_p.T725I	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	725	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCATCATGGTCTCGGTAAC	0.562000														41			24		0	0	0.003954	0	0
ZNF536	9745	broad.mit.edu	37	19	31039973	31039973	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:31039973C>T	uc002nsu.1	+	3	3585	c.3447C>T	c.(3445-3447)atC>atT	p.I1149I	ZNF536_uc010edd.1_Silent_p.I1149I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCCTGATCCCCGAAACCA	0.552000														18			22		0	0	0.002299	0	0
CLCA4	22802	broad.mit.edu	37	1	87045096	87045096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:87045096G>A	uc009wcs.3	+	12	2226	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	CLCA4_uc009wct.3_Missense_Mutation_p.E491K|CLCA4_uc009wcu.3_Missense_Mutation_p.E548K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	728						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GACCACCTTGGAGGATTTCAG	0.468000														26			14		0	0	0.002450	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773447	145773447	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145773447C>T	uc003zds.1	-	5	1578	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	ARHGAP39_uc011llk.1_Silent_p.Q341Q|ARHGAP39_uc003zdt.1_Silent_p.Q341Q	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	341	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGAGCCGGCCTGGTAGCCCC	0.701000														11			9		0	0	0.004482	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342499	40342499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:40342499C>T	uc002rrx.3	-	9	2840	c.2816G>A	c.(2815-2817)gGg>gAg	p.G939E	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.G934E|SLC8A1_uc002rsb.2_Missense_Mutation_p.G931E|SLC8A1_uc002rrz.3_Missense_Mutation_p.G926E|SLC8A1_uc002rsa.3_Missense_Mutation_p.G903E|SLC8A1_uc002rsd.4_Missense_Mutation_p.G903E	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	939					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTCCGGGGCCCACCCAGCTC	0.537000														9			25		0	0	0.007291	0	0
BPHL	670	broad.mit.edu	37	6	3137651	3137651	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:3137651C>T	uc003mva.3	+	4	637	c.588C>T	c.(586-588)ctC>ctT	p.L196L	BPHL_uc003muz.3_Non-coding_Transcript|BPHL_uc011dht.2_Non-coding_Transcript|BPHL_uc003muy.3_Silent_p.L179L	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	Homo sapiens biphenyl hydrolase-like (serine hydrolase) (BPHL), transcript variant 1, mRNA.	196					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TAGAAGCCCTCTATGGGTATG	0.438000														79			46		0	0	0.002522	0	0
USH1G	124590	broad.mit.edu	37	17	72916142	72916143	+	Missense_Mutation	DNP	AT	GA	GA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72916142_72916143AT>GA	uc002jme.1	-	1	971_972	c.788_789AT>TC	c.(787-789)aat>aTC	p.N263I	USH1G_uc010wro.1_Missense_Mutation_p.N160I	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	263					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ACTCCTTGGGATTGGCGTAGGT	0.698000														28			17		0	0	0.004672	0	0
PTPN11	5781	broad.mit.edu	37	12	112910775	112910775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:112910775C>T	uc001ttx.3	+	6	1164	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	PTPN11_uc001ttw.1_Missense_Mutation_p.L262F	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	262	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTGCAAACTTCTCTACAGCCG	0.363000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					96			38		0	0	0.008740	0	0
HTR4	3360	broad.mit.edu	37	5	147928263	147928263	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:147928263C>T	uc021yfj.1	-	2	368	c.321G>A	c.(319-321)tcG>tcA	p.S107S	HTR4_uc021yfg.1_Silent_p.S107S|HTR4_uc021yfh.1_Silent_p.S107S|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.S107S|HTR4_uc011dby.1_Silent_p.S107S|HTR4_uc003lpn.3_Silent_p.S107S|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.S107S	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	107					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	p.A106T(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGTGAAAAATCGATGCCGTTG	0.488000														1			4		0	0	0.001168	0	0
CCDC60	160777	broad.mit.edu	37	12	119968833	119968833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:119968833G>A	uc001txe.3	+	12	1981	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	506										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAGGATTTGGGAACTGTGCTC	0.502000														31			10		0	0	0.008291	0	0
EYA2	2139	broad.mit.edu	37	20	45702837	45702837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:45702837C>T	uc002xsm.3	+	6	898	c.524C>T	c.(523-525)cCc>cTc	p.P175L	EYA2_uc010ghp.3_Missense_Mutation_p.P175L|EYA2_uc002xsq.3_Missense_Mutation_p.P175L	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	175					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGCCAGTACCCCCAGTATTAC	0.592000														30			27		0	0	0.007291	0	0
OR2G2	81470	broad.mit.edu	37	1	247752097	247752097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247752097G>A	uc010pyy.2	+	0	436	c.436G>A	c.(436-438)Gcc>Acc	p.A146T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCTGCATGGCCTTGGCATC	0.567000														61			56		0	0	0.003610	0	0
STEAP3	55240	broad.mit.edu	37	2	120003549	120003549	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:120003549G>A	uc002tlp.3	+	2	634	c.477G>A	c.(475-477)agG>agA	p.R159R	STEAP3_uc002tlq.3_Silent_p.R169R|STEAP3_uc002tlr.3_Silent_p.R159R|STEAP3_uc010fle.3_Silent_p.R159R	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	159					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.R159M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTGGCCCAAGGGATGGTAACA	0.502000														41			13		0	0	0.004990	0	0
C15orf2	23742	broad.mit.edu	37	15	24923506	24923506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:24923506C>T	uc001ywo.3	+	0	2966	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	831					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACCCCTCCTTCCAAAACTGTC	0.498000														55			51		0	0	0.003610	0	0
SYT4	6860	broad.mit.edu	37	18	40853613	40853613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:40853613G>A	uc002law.3	-	1	1150	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.L243F	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	261	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						ATTCCCGAGAGAGGAATTAGA	0.338000														12			23		0	0	0.003330	0	0
FRG2B	441581	broad.mit.edu	37	10	135440242	135440242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:135440242C>T	uc010qvg.2	-	0	58	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	2						nucleus		p.M1I(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATTTCCCTTTCCCATGTTGAA	0.532000														133			18		0	0	0.007291	0	0
ABCC1	4363	broad.mit.edu	37	16	16177228	16177228	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:16177228C>T	uc010bvi.3	+	16	2296	c.2121C>T	c.(2119-2121)tcC>tcT	p.S707S	ABCC1_uc010bvj.3_Intron|ABCC1_uc010bvk.3_Silent_p.S707S|ABCC1_uc010bvl.3_Silent_p.S707S|ABCC1_uc010bvm.3_Intron|ABCC1_uc002del.4_Silent_p.S591S	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	707	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S707F(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTTAGGGCTCCGTGGCCTATG	0.527000														27			15		0	0	0.007413	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540473	94540473	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:94540473A>G	uc003unp.3	+	1	1330	c.1048A>G	c.(1048-1050)Aat>Gat	p.N350D	PPP1R9A_uc010lfj.3_Missense_Mutation_p.N350D|PPP1R9A_uc011kif.2_Missense_Mutation_p.N350D|PPP1R9A_uc003unq.3_Missense_Mutation_p.N350D|PPP1R9A_uc011kig.2_Missense_Mutation_p.N350D	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	350						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCTGAAGCTAATTTGGTTGG	0.458000										HNSCC(28;0.073)				30			20		0	0	0.008871	0	0
WIPF1	7456	broad.mit.edu	37	2	175436895	175436896	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:175436895_175436896GG>AA	uc002uiz.3	-	4	737_738	c.637_638CC>TT	c.(637-639)ccc>TTc	p.P213F	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.P213F|WIPF1_uc010fqt.1_Missense_Mutation_p.P213F|WIPF1_uc002ujc.1_Missense_Mutation_p.P213F|WIPF1_uc002ujb.2_Missense_Mutation_p.P213F|WIPF1_uc010zep.1_Missense_Mutation_p.P213F	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	213					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CCCGGGGCTGGGCTGCCTGGGG	0.639000														11			23		0	0	0.004672	0	0
UNC79	57578	broad.mit.edu	37	14	94046585	94046585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94046585C>T	uc001ybv.1	+	15	2076	c.1993C>T	c.(1993-1995)Ccc>Tcc	p.P665S	UNC79_uc001ybs.1_Missense_Mutation_p.P665S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	842						integral to membrane		p.I654_H670del(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTCCAAGCCCCCTGGGGGGG	0.443000														32			35		0	0	0.006230	0	0
CPPED1	55313	broad.mit.edu	37	16	12798701	12798701	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:12798701G>A	uc002dca.4	-	2	606	c.495C>T	c.(493-495)tcC>tcT	p.S165S	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	165							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CGTAGAACTGGGAGTTGAGGA	0.637000														14			21		0	0	0.008871	0	0
CPVL	54504	broad.mit.edu	37	7	29160545	29160545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:29160545G>A	uc003szv.3	-	1	252	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	CPVL_uc003szw.3_Missense_Mutation_p.L45F|CPVL_uc003szx.3_Missense_Mutation_p.L45F	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	45					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TAAGGGGTGAGAAATAATGGC	0.438000														34			34		0	0	0.007835	0	0
RFWD2	64326	broad.mit.edu	37	1	176132980	176132980	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:176132980A>G	uc001gku.1	-	3	869	c.613T>C	c.(613-615)Ttc>Ctc	p.F205L	RFWD2_uc001gkv.1_Missense_Mutation_p.F205L|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Missense_Mutation_p.F64L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	205					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R204M(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCAATTTGAACCTCTTTTCC	0.269000														26			22		0	0	0.008361	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968738	62968738	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62968738G>A	uc002jez.3	-	3		c.593C>T			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		AACACAGAAGGCATCTTCAGG	0.353000														29			71		0	0	0.003610	0	0
COG5	10466	broad.mit.edu	37	7	106964934	106964934	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:106964934C>T	uc003vec.2	-	10	1677	c.1152G>A	c.(1150-1152)tgG>tgA	p.W384*	COG5_uc003ved.2_Nonsense_Mutation_p.W384*|COG5_uc003vee.2_Nonsense_Mutation_p.W384*	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	384					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TAACTGAATTCCAAAATGTGT	0.254000														45			47		0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14851399	14851399	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:14851399C>T	uc003zlm.3	-	6	1851	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	345					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACAGGTGAGTCACATAGCCCT	0.498000														2			26		0	0	0.003954	0	0
MUC2	4583	broad.mit.edu	37	11	1097741	1097741	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1097741C>T	uc001lsx.1	+	37	6849	c.6822C>T	c.(6820-6822)atC>atT	p.I2274I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4640						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCGGGGAGATCGTCTCCAACT	0.642000														14			8		0	0	0.004482	0	0
PLOD1	5351	broad.mit.edu	37	1	12032952	12032952	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:12032952C>T	uc010obb.2	+	18	2180	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	PLOD1_uc001atm.3_Silent_p.V642V	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	642	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGCCTTTGTCGTCCGCTACA	0.577000														16			25		0	0	0.004656	0	0
AQPEP	206338	broad.mit.edu	37	5	115298969	115298969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:115298969G>A	uc003kro.3	+	0	819	c.655G>A	c.(655-657)Gga>Aga	p.G219R	AQPEP_uc003krp.3_Non-coding_Transcript|AX747550_uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	219					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCTCAGGGAGGGACTCTTCCT	0.647000														8			3		0	0	0.000602	0	0
COL5A1	1289	broad.mit.edu	37	9	137620602	137620602	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:137620602C>T	uc004cfe.3	+	5	1255	c.873C>T	c.(871-873)acC>acT	p.T291T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	291	Nonhelical 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)		AGGAGCCCACCCCCAGCAAGA	0.607000														39			32		0	0	0.004289	0	0
WEE2	494551	broad.mit.edu	37	7	141420792	141420792	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:141420792G>A	uc003vwn.2	+	4	1222	c.816G>A	c.(814-816)gtG>gtA	p.V272V	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	272	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACCCCCATGTGGTACGTTACT	0.408000														55			56		0	0	0.003610	0	0
KCNA6	3742	broad.mit.edu	37	12	4920380	4920380	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:4920380C>T	uc001qng.3	+	0	2039	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	KCNA6_uc021qtr.1_Silent_p.S391S	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	391						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TCCTCTTCTCCAGTGCCGTCT	0.572000										HNSCC(72;0.22)				27			24		0	0	0.008361	0	0
DNAH10	196385	broad.mit.edu	37	12	124409633	124409633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124409633C>T	uc001uft.4	+	66	11474	c.11449C>T	c.(11449-11451)Ccc>Tcc	p.P3817S	DNAH10_uc001ufu.4_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3817					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)		GTTTCCCGTCCCCTTGGGTTA	0.473000														18			13		0	0	0.001855	0	0
NFKB1	4790	broad.mit.edu	37	4	103459047	103459047	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:103459047C>T	uc011ceq.2	+	4	656	c.189C>T	c.(187-189)ggC>ggT	p.G63G	NFKB1_uc011cep.2_Silent_p.G64G	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	63	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TATGTGAAGGCCCATCCCATG	0.398000														61			13		0	0	0.003163	0	0
CREBBP	1387	broad.mit.edu	37	16	3819272	3819272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:3819272G>A	uc002cvv.3	-	14	3167	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L	CREBBP_uc002cvw.3_Missense_Mutation_p.P950L	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	988					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCAGGTCCTGGCTGCTGGGA	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							26			23		0	0	0.002299	0	0
ASTN1	460	broad.mit.edu	37	1	176863960	176863960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:176863960G>A	uc001glc.3	-	16	2890	c.2678C>T	c.(2677-2679)tCc>tTc	p.S893F	ASTN1_uc001glb.1_Missense_Mutation_p.S893F|ASTN1_uc001gld.1_Missense_Mutation_p.S893F	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	901					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCTGATGGGGAGTTGCCTGC	0.517000														34			29		0	0	0.002445	0	0
C17orf67	339210	broad.mit.edu	37	17	54892252	54892252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:54892252C>T	uc010dci.3	-	1	334	c.206G>A	c.(205-207)gGa>gAa	p.G69E	C17orf67_uc002iuq.3_Non-coding_Transcript	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA.	69						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					ATCGGGGAATCCGGGTTTGCT	0.498000														373			122		0	0	0.003610	0	0
HHIP	64399	broad.mit.edu	37	4	145579946	145579946	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:145579946C>T	uc003ijs.2	+	2	1157	c.477C>T	c.(475-477)ttC>ttT	p.F159F	HHIP_uc003ijr.2_Silent_p.F159F	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	159						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTAAAGGTTTCCTTCAAACAA	0.343000														80			21		0	0	0.001882	0	0
C3orf26	84319	broad.mit.edu	37	3	99886587	99886587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:99886587C>T	uc003dtl.3	+	5	567	c.421C>T	c.(421-423)Cct>Tct	p.P141S	C3orf26_uc021xbt.1_Missense_Mutation_p.P123S	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.	141							ATP binding|ATP-dependent helicase activity|nucleic acid binding			large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						TCCAGTTTGTCCTAAGTGGGT	0.423000														71			23		0	0	0.004656	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038253	16038253	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:16038253C>T	uc002nbu.2	-	3	420	c.384G>A	c.(382-384)ctG>ctA	p.L128L	CYP4F11_uc010eab.1_Silent_p.L128L|CYP4F11_uc002nbt.2_Silent_p.L128L	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	128					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCCAGGGCTTCAGGAAGCCAT	0.532000														84			83		0	0	0.003610	0	0
PSG7	5676	broad.mit.edu	37	19	43429951	43429951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:43429951G>A	uc002ovl.4	-	5	1316	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.S284F	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	406	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				CACGGATTTGGAGCTTTCCTT	0.473000														42			144		0	0	0.003610	0	0
REEP1	65055	broad.mit.edu	37	2	86509330	86509330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:86509330G>A	uc021vke.1	-	1	96	c.89C>T	c.(88-90)tCc>tTc	p.S30F	REEP1_uc002srh.4_Missense_Mutation_p.S23F|REEP1_uc010yth.2_Intron|REEP1_uc010yti.2_Missense_Mutation_p.S23F|REEP1_uc010ytg.2_5'UTR	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	23					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGCCTTGTAGGAATAATACGC	0.393000														37			83		0	0	0.003610	0	0
NOX5	79400	broad.mit.edu	37	15	69325617	69325617	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:69325617G>T	uc002ars.2	+	5	896	c.855_splice	c.e5+1	p.A285_splice	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Splice_Site_p.A239_splice|NOX5_uc002arp.2_Splice_Site_p.A267_splice|NOX5_uc010bid.2_Splice_Site_p.A250_splice|NOX5_uc010bie.2_Splice_Site_p.A85_splice|NOX5_uc002arr.2_Splice_Site_p.A257_splice|NOX5_uc010bif.2_Splice_Site	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	285					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTTCATCGCGGTAGGCTCTG	0.637000														3			5		0.00116845	0.00159772	0.001168	1	0
OR11H4	390442	broad.mit.edu	37	14	20711059	20711059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20711059C>T	uc010tld.2	+	0	109	c.109C>T	c.(109-111)Ctc>Ttc	p.L37F		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCAGATTTTCCTCTTCTCATT	0.443000														29			7		0	0	0.001984	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555850	101555850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:101555850G>A	uc001thz.4	-	12	1922	c.1532C>T	c.(1531-1533)cCa>cTa	p.P511L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	511					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCATCAGTGGAGTCCTAAG	0.378000														28			82		0	0	0.003610	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102469167	102469167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:102469167C>T	uc001yks.2	+	22	4912	c.4748C>T	c.(4747-4749)tCc>tTc	p.S1583F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1583	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAAAAAGTGTCCAAGTCTCCC	0.443000														47			12		0	0	0.001855	0	0
KIAA1244	57221	broad.mit.edu	37	6	138645205	138645205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:138645205G>A	uc003qhu.3	+	30	5086	c.4915G>A	c.(4915-4917)Gaa>Aaa	p.E1639K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1639					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTTCAGCGGGGAAGGCTGCCA	0.672000														32			18		0	0	0.001523	0	0
MC2R	4158	broad.mit.edu	37	18	13885095	13885095	+	Silent	SNP	G	A	A	rs149161443	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:13885095G>A	uc002ksp.1	-	1	600	c.423C>T	c.(421-423)atC>atT	p.I141I	MC2R_uc021uhs.1_Silent_p.I141I	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	141					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCATGGTCACGATGCTGTGGT	0.582000														20			12		0	0	0.000978	0	0
DMXL2	23312	broad.mit.edu	37	15	51742485	51742485	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:51742485G>A	uc010ufy.2	-	41	8970	c.8745C>T	c.(8743-8745)ctC>ctT	p.L2915L	DMXL2_uc002abd.3_Silent_p.L1006L|DMXL2_uc002abf.3_Silent_p.L2914L|DMXL2_uc010bfa.3_Silent_p.L2278L|DMXL2_uc002abc.3_Non-coding_Transcript	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2914						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCGAGATTAGGAGTTGCTGTT	0.473000														70			18		0	0	0.001523	0	0
RP1L1	94137	broad.mit.edu	37	8	10469369	10469369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:10469369C>T	uc003wtc.3	-	3	2468	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	747					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAAACAAAATCCGAGTGGACT	0.652000														19			17		0	0	0.006122	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989341	22989341	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:22989341C>T	uc010gts.2	+	1	328	c.294C>T	c.(292-294)ttC>ttT	p.F98F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Silent_p.F98F	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	98					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CTGCCAATTTCATCCAGCCAG	0.612000														54			42		0	0	0.003610	0	0
HECW1	23072	broad.mit.edu	37	7	43484077	43484077	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:43484077G>T	uc003tid.1	+	10	1911	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*	HECW1_uc011kbi.1_Nonsense_Mutation_p.E436*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	436					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						TGTGGGACCTGAAGGGGCTGG	0.622000														5			6		0.00198382	0.00270897	0.001984	1	0
FAM169A	26049	broad.mit.edu	37	5	74078955	74078955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:74078955G>A	uc003kdm.3	-	11	1308	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	FAM169A_uc010izm.3_Missense_Mutation_p.S362F|FAM169A_uc003kdl.3_Missense_Mutation_p.S240F	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	422	Asp/Glu-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CTCTAATTCAGATTCCTACAC	0.403000														18			41		0	0	0.003214	0	0
FLG2	388698	broad.mit.edu	37	1	152327430	152327430	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152327430C>T	uc001ezw.4	-	2	2905	c.2832G>A	c.(2830-2832)caG>caA	p.Q944Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	944	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCAAAAGTCTGTCCTGAAC	0.493000														259			85		0	0	0.003610	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518560	113518560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:113518560C>T	uc010ljy.1	-	3	2618	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	863					glycogen metabolic process	integral to membrane		p.D863Y(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACTGTAAATCCAGTTTTGAA	0.378000														77			24		0	0	0.002780	0	0
MATN1	4146	broad.mit.edu	37	1	31194579	31194579	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:31194579C>T	uc001brz.3	-	1	148	c.114G>A	c.(112-114)cgG>cgA	p.R38R	LOC100129196_uc001bsb.1_Intron	NM_002379	NP_002370	P21941	MATN1_HUMAN	Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA.	38	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCTGTGGGCCGCGTCCGGC	0.597000														10			16		0	0	0.004990	0	0
MMP27	64066	broad.mit.edu	37	11	102567566	102567566	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:102567566C>T	uc001phd.1	-	5	643	c.620_splice	c.e5-1	p.G207_splice		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	207					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CAAGTTGAATCCTTGATAATA	0.403000														18			7		0	0	0.001984	0	0
AXDND1	126859	broad.mit.edu	37	1	179497510	179497510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:179497510G>A	uc001gmo.3	+	22	3046	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E771K|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	887	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATTCATTGGAGAAGATGAAAA	0.413000														11			17		0	0	0.001882	0	0
CACNA1D	776	broad.mit.edu	37	3	53694254	53694254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:53694254C>T	uc003dgv.4	+	4	881	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	CACNA1D_uc003dgu.4_Missense_Mutation_p.R240C|CACNA1D_uc003dgy.4_Missense_Mutation_p.R240C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	240					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L239L(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAAAGCCCTCCGTGCCTTTCG	0.458000														23			19		0	0	0.006122	0	0
CDK18	5129	broad.mit.edu	37	1	205499796	205499796	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:205499796G>A	uc001hcr.3	+	14	1705	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	CDK18_uc001hcp.3_Silent_p.K451K|CDK18_uc001hcq.3_Silent_p.K451K|CDK18_uc010prj.2_Silent_p.K362K|CDK18_uc001hcs.3_Silent_p.K362K	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	449							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGCTCCAGAAGGACCCAGGCT	0.622000														20			4		0	0	0.000602	0	0
GABRE	2564	broad.mit.edu	37	X	151124224	151124224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:151124224G>A	uc004ffi.3	-	6	947	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	298					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCAAAAGGAAACCCAGGA	0.512000														1			45		0	0	0.003610	0	0
HACE1	57531	broad.mit.edu	37	6	105198315	105198315	+	Silent	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:105198315T>C	uc003pqu.1	-	19	2521	c.2244A>G	c.(2242-2244)cgA>cgG	p.R748R	HACE1_uc010kcy.1_Silent_p.R230R|HACE1_uc010kcz.1_Silent_p.R533R|HACE1_uc010kcx.1_Silent_p.R157R|HACE1_uc003pqt.1_Silent_p.R401R	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	748	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTCTTGTCATTCGAAGTTCAG	0.358000														16			20		0	0	0.003954	0	0
GDF2	2658	broad.mit.edu	37	10	48416399	48416399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:48416399C>T	uc001jfa.1	-	0	455	c.295G>A	c.(295-297)Gat>Aat	p.D99N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	99					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTCGACTTATCGGACGTGTAC	0.587000														36			10		0	0	0.000978	0	0
ZNF138	7697	broad.mit.edu	37	7	64291928	64291928	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:64291928A>C	uc011kdq.2	+	2	406	c.230A>C	c.(229-231)aAg>aCg	p.K77T	ZNF138_uc003ttg.3_Missense_Mutation_p.K46T|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.K71T|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	77					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TATGGACATAAGAATTTACAG	0.383000														38			30		0	0	0.007291	0	0
MAN2C1	4123	broad.mit.edu	37	15	75648297	75648297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:75648297G>A	uc002bah.3	-	25	3141	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	MIR631_uc021sqo.1_5'Flank|MAN2C1_uc010bkk.3_Missense_Mutation_p.P926S|MAN2C1_uc002baf.3_Missense_Mutation_p.P1025S|MAN2C1_uc002bag.3_Missense_Mutation_p.P1002S			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	1025					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.P1025S(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						ACTTGGAAGGGAGAAAAGGTG	0.582000														12			4		0	0	0.000602	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515704	70515704	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:70515704G>A	uc001xly.3	-	6	2941	c.2187C>T	c.(2185-2187)gaC>gaT	p.D729D	SLC8A3_uc001xlv.3_Silent_p.D100D|SLC8A3_uc001xlu.3_Silent_p.D86D|SLC8A3_uc001xlw.3_Silent_p.D726D|SLC8A3_uc001xlx.3_Silent_p.D727D|SLC8A3_uc001xlz.3_Silent_p.D723D|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Silent_p.D86D	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	729					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)		GCATGACGTAGTCAAAGCAGG	0.572000														14			14		0	0	0.002450	0	0
AIM1	202	broad.mit.edu	37	6	107003731	107003731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:107003731C>T	uc003prh.3	+	14	5362	c.4450C>T	c.(4450-4452)Ccg>Tcg	p.P1484S	AIM1_uc003pri.3_Missense_Mutation_p.P288S	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1484	Beta/gamma crystallin 'Greek key' 10.						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)		AATGGGATGCCCGCCTGGAGC	0.408000														50			49		0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14748456	14748456	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:14748456G>A	uc003zlm.3	-	31	6555	c.5739C>T	c.(5737-5739)ggC>ggT	p.G1913G	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Silent_p.G449G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1913					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGAATCAAAGCCCCGCAGGG	0.483000														10			12		0	0	0.000978	0	0
ARMC4	55130	broad.mit.edu	37	10	28233806	28233806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:28233806C>T	uc009xky.3	-	10	1570	c.1472G>A	c.(1471-1473)aGa>aAa	p.R491K	ARMC4_uc010qds.2_Missense_Mutation_p.R16K|ARMC4_uc010qdt.2_Missense_Mutation_p.R183K|ARMC4_uc001itz.3_Missense_Mutation_p.R491K|ARMC4_uc010qdu.1_Missense_Mutation_p.R183K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	491							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCAACATCTCTGATGGCCAA	0.458000														56			8		0	0	0.003080	0	0
PRR3	80742	broad.mit.edu	37	6	30525943	30525943	+	Silent	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:30525943G>T	uc003nqi.2	+	1	759	c.123G>T	c.(121-123)ctG>ctT	p.L41L	GNL1_uc011dmi.2_5'Flank|GNL1_uc011dmj.2_5'Flank|GNL1_uc011dmk.2_5'Flank|GNL1_uc003nqh.3_5'Flank|PRR3_uc003nqj.2_Intron	NM_025263	NP_079539	P79522	PRR3_HUMAN	Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA.	41	Pro-rich.						nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						CCAGCCTTCTGGGCCCTCCCC	0.483000														65			12		0.000151284	0.000207525	0.001855	1	0
XPNPEP1	7511	broad.mit.edu	37	10	111642289	111642289	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:111642289G>A	uc001kyp.2	-	9	1062	c.942C>T	c.(940-942)atC>atT	p.I314I	XPNPEP1_uc009xxt.2_Silent_p.I314I|XPNPEP1_uc001kyq.2_Silent_p.I200I|XPNPEP1_uc010qrb.2_Silent_p.I314I|XPNPEP1_uc010qra.1_Silent_p.I38I	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	271					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GCTCGCTCAGGATGGACTTGT	0.582000														36			12		0	0	0.001368	0	0
OR5R1	219479	broad.mit.edu	37	11	56185123	56185123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:56185123C>T	uc010rji.2	-	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAATTTCCTTCATGTGT	0.433000														34			17		0	0	0.004007	0	0
CBWD6	644019	broad.mit.edu	37	9	69256871	69256871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:69256871G>A	uc004afj.4	-	2	366	c.260C>T	c.(259-261)tCc>tTc	p.S87F	CBWD6_uc004afk.4_Non-coding_Transcript|CBWD6_uc011lrf.2_Non-coding_Transcript|CBWD6_uc004afl.3_Missense_Mutation_p.S87F	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN	Homo sapiens COBW domain containing 6 (CBWD6), mRNA.	87							ATP binding			lung(4)	4						GACAGCTAAGGATTTCTCCAG	0.398000														50			75		0	0	0.003610	0	0
FARSA	2193	broad.mit.edu	37	19	13041248	13041248	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:13041248G>A	uc002mvs.2	-	2	427	c.379C>T	c.(379-381)Cga>Tga	p.R127*	FARSA_uc010xmv.1_Nonsense_Mutation_p.R127*	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	127					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGCACCACTCGGAACACCCGG	0.642000														48			18		0	0	0.001882	0	0
C11orf9	745	broad.mit.edu	37	11	61539013	61539013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:61539013C>T	uc001nsc.1	+	5	878	c.782C>T	c.(781-783)tCc>tTc	p.S261F	C11orf9_uc001nse.1_Missense_Mutation_p.S252F	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	261	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S255fs*74(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CACTCTGAATCCCCCCCCAGC	0.637000														22			32		0	0	0.004289	0	0
PEG3	5178	broad.mit.edu	37	19	57328838	57328838	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:57328838G>A	uc002qnu.2	-	6	1323	c.972C>T	c.(970-972)cgC>cgT	p.R324R	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.R295R|PEG3_uc002qnv.2_Silent_p.R324R|PEG3_uc002qnw.2_Silent_p.R200R|PEG3_uc002qnx.2_Silent_p.R198R|PEG3_uc010etr.2_Silent_p.R324R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	324					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		ATTTGGAACTGCGTGACACAT	0.473000														15			40		0	0	0.006999	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53096902	53096902	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:53096902G>A	uc001vgw.3	+	10		c.1279G>A								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		TTTTCTCATGGATGTTCTTCT	0.338000														17			19		0	0	0.003330	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232645	193232645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:193232645G>A	uc003ftd.3	-	1	184	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ATP13A4_uc003fte.1_Missense_Mutation_p.R26W|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	26					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R26W(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTTGAGTCCGATAGCCAAAT	0.418000														28			23		0	0	0.005443	0	0
DDX60	55601	broad.mit.edu	37	4	169189085	169189085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:169189085C>T	uc003irp.3	-	20	3128	c.2836G>A	c.(2836-2838)Gaa>Aaa	p.E946K		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	946							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTATTATTTTCAATTATTTTG	0.353000														38			40		0	0	0.006999	0	0
OR4X1	390113	broad.mit.edu	37	11	48286156	48286156	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:48286156C>T	uc010rht.2	+	0	744	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCGACCTGTTCTTCATACCTT	0.507000														5			47		0	0	0.003610	0	0
ZNF516	9658	broad.mit.edu	37	18	74092172	74092172	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:74092172T>A	uc021ulp.1	-	3	2216	c.1898A>T	c.(1897-1899)aAc>aTc	p.N633I	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTCCGAGGCGTTATCTCCCAT	0.562000														32			16		0	0	0.006122	0	0
EYA2	2139	broad.mit.edu	37	20	45809551	45809551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:45809551C>T	uc002xsm.3	+	13	1776	c.1402C>T	c.(1402-1404)Cct>Tct	p.P468S	EYA2_uc010ghp.3_Intron|EYA2_uc002xsq.3_Missense_Mutation_p.P438S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	468					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GTCTGTGTTTCCTATTGAGAA	0.537000														44			18		0	0	0.007413	0	0
OR5P3	120066	broad.mit.edu	37	11	7846984	7846984	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:7846984C>G	uc010rbg.2	-	0	536	c.536G>C	c.(535-537)tGt>tCt	p.C179S		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAATAGTCACAGAAAAAGTG	0.413000														17			25		0	0	0.006320	0	0
SIK3	23387	broad.mit.edu	37	11	116729300	116729301	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:116729300_116729301CC>AA	uc001ppy.3	-	19	2598_2599	c.2562_2563GG>TT	c.(2560-2565)gtgggg>gtTTgg	p.G855W	SIK3_uc001ppz.3_Intron|SIK3_uc001pqa.3_Intron|SIK3_uc001ppw.3_Intron|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Missense_Mutation_p.G158W	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	855	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGAGAGAACCCCACTCCTGTTG	0.594000														151			9		0	0	0.004672	0	0
KIAA1468	57614	broad.mit.edu	37	18	59954692	59954692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:59954692C>T	uc002lil.3	+	25	3577	c.3362C>T	c.(3361-3363)tCc>tTc	p.S1121F	KIAA1468_uc010xel.2_Missense_Mutation_p.S1121F|KIAA1468_uc002lim.3_Missense_Mutation_p.S799F	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1121							binding	p.L1120L(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGTGCACTTTCCTGTTGTTGT	0.358000														39			22		0	0	0.004656	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197375	26197376	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:26197375_26197376CC>TT	uc003ngv.3	-	1	500_501	c.103_104GG>AA	c.(103-105)ggc>AAc	p.G35N	HIST1H3D_uc021ymt.1_Missense_Mutation_p.G35N|HIST1H2BF_uc003ngx.3_5'Flank	NM_003530	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3d (HIST1H3D), mRNA.	35					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CTTCTTCACGCCGCCGGTGGCT	0.653000														46			17		0	0	0.004672	0	0
OR1L8	138881	broad.mit.edu	37	9	125329963	125329963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125329963G>A	uc004bmp.1	-	0	794	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGCGTAGGTGGATGGGGGCTG	0.458000														34			13		0	0	0.003163	0	0
SLC27A2	11001	broad.mit.edu	37	15	50474704	50474704	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:50474704T>A	uc001zxw.3	+	0	312	c.80T>A	c.(79-81)tTc>tAc	p.F27Y	SLC27A2_uc010bes.3_Missense_Mutation_p.F27Y	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	27					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CCATACTTCTTCCAGGACATA	0.662000														12			6		0	0	0.003080	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4393215	4393215	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:4393215C>G	uc002cwf.3	-	27	3293	c.2850G>C	c.(2848-2850)gaG>gaC	p.E950D	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwd.3_Missense_Mutation_p.E27D	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		TACCTGCAAACTCCTGCCGCA	0.637000														16			7		0	0	0.003080	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432954	73432954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:73432954C>T	uc003dpl.1	-	9	2859	c.2763G>A	c.(2761-2763)tgG>tgA	p.W921*	PDZRN3_uc011bgh.1_Nonsense_Mutation_p.W578*|PDZRN3_uc010hoe.1_Nonsense_Mutation_p.W619*|PDZRN3_uc021xaq.1_Nonsense_Mutation_p.W214*|PDZRN3_uc011bgf.1_Nonsense_Mutation_p.W638*|PDZRN3_uc011bgg.1_Nonsense_Mutation_p.W641*	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	921							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTTCACCTTCCACTCCATGC	0.662000														24			10		0	0	0.001368	0	0
ARMC3	219681	broad.mit.edu	37	10	23235172	23235172	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:23235172T>A	uc001irm.4	+	2	231	c.148T>A	c.(148-150)Tat>Aat	p.Y50N	ARMC3_uc010qcv.2_Missense_Mutation_p.Y50N|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	50							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAAGCCATTTATAAATTTGC	0.313000														89			17		0	0	0.006122	0	0
ERF	2077	broad.mit.edu	37	19	42752989	42752989	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:42752989G>A	uc002ote.4	-	3	1433	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	ERF_uc002otd.4_Silent_p.I156I	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	425					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GCTCCACCTTGATCTGTGGTG	0.662000														69			17		0	0	0.008871	0	0
DBC1	1620	broad.mit.edu	37	9	121929706	121929706	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:121929706A>G	uc004bkc.2	-	7	2398	c.1942T>C	c.(1942-1944)Ttc>Ctc	p.F648L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	648					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTGATGTAGAACTGCCTCTTG	0.577000														60			53		0	0	0.003610	0	0
BHMT2	23743	broad.mit.edu	37	5	78379596	78379596	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:78379596G>A	uc003kft.3	+	6	986	c.927G>A	c.(925-927)agG>agA	p.R309R	BHMT2_uc011cth.2_Silent_p.R245R	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	309					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCCCAGAAAGGGGCTTTTTGC	0.527000														16			4		0	0	0.000602	0	0
RELL2	285613	broad.mit.edu	37	5	141019180	141019180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:141019180C>T	uc003lli.3	+	4	1315	c.467C>T	c.(466-468)cCc>cTc	p.P156L	HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.3_Missense_Mutation_p.P156L|FCHSD1_uc010jgg.3_3'UTR|FCHSD1_uc003llj.3_Non-coding_Transcript|FCHSD1_uc003llk.3_3'UTR	NM_001130029	NP_776189	Q8NC24	RELL2_HUMAN	Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA.	156						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGCCGCCCCCGGACAGGG	0.647000														18			4		0	0	0.000248	0	0
TMC1	117531	broad.mit.edu	37	9	75309495	75309495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:75309495G>A	uc004aiz.1	+	6	641	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	TMC1_uc010moz.1_Missense_Mutation_p.R34Q|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_5'UTR|TMC1_uc010mpa.1_5'UTR	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	34	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGCTACCTCGAAGAGAGAGC	0.448000														11			11		0	0	0.001855	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18658279	18658279	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18658279C>T	uc001rdt.3	+	22	3200	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.I1069I|PIK3C2G_uc010sic.2_Silent_p.I847I	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1028	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TAACATTCATCCTGGGAGTAT	0.383000														12			8		0	0	0.004482	0	0
EXPH5	23086	broad.mit.edu	37	11	108381835	108381835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:108381835G>A	uc001pkk.3	-	5	4510	c.4399C>T	c.(4399-4401)Cac>Tac	p.H1467Y	EXPH5_uc010rvz.2_Missense_Mutation_p.H1311Y|EXPH5_uc010rvy.2_Missense_Mutation_p.H1279Y	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1467					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTGGATGTGTGATCTTTCTGG	0.458000														1			12		0	0	0.000978	0	0
OSGIN1	29948	broad.mit.edu	37	16	83992977	83992977	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:83992977C>T	uc002fha.3	+	3	429	c.429C>T	c.(427-429)gcC>gcT	p.A143A	OSGIN1_uc002fhb.3_Silent_p.A60A|OSGIN1_uc002fhc.3_Silent_p.A60A	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	143					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TCACCGAGGCCCCGGGGGTCT	0.627000														11			5		0	0	0.001984	0	0
CDH19	28513	broad.mit.edu	37	18	64235912	64235912	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:64235912G>A	uc002lkc.1	-	2	369	c.231C>T	c.(229-231)ttC>ttT	p.F77F	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Silent_p.F77F|CDH19_uc002lkd.3_Silent_p.F77F	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	77	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTTGTACTGGAAAGAATTGT	0.373000														30			16		0	0	0.003163	0	0
ZNF679	168417	broad.mit.edu	37	7	63720599	63720599	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:63720599G>A	uc003tsx.3	+	3	309	c.40_splice	c.e3-1	p.G14_splice		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTTTTTCAGGGACTGTTGAC	0.383000														33			12		0	0	0.000978	0	0
KCND2	3751	broad.mit.edu	37	7	120381675	120381675	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:120381675C>T	uc003vjj.1	+	2	2331	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	456					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACTCAGTAATCAGCTGCAGGT	0.363000														18			21		0	0	0.001523	0	0
EXD3	54932	broad.mit.edu	37	9	140242540	140242540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:140242540G>A	uc004cmp.2	-	16	2177	c.1981C>T	c.(1981-1983)Cac>Tac	p.H661Y	EXD3_uc010ncf.1_Missense_Mutation_p.H312Y|EXD3_uc004cmq.1_Non-coding_Transcript	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	661					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCCCTGCGGTGGTCTTCACCA	0.647000														8			9		0	0	0.000978	0	0
SIRPD	128646	broad.mit.edu	37	20	1532558	1532558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:1532558C>T	uc002wfi.3	-	1	244	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	67	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGGCCCTGTTCCCTTGAACCA	0.448000														34			26		0	0	0.003330	0	0
CCKAR	886	broad.mit.edu	37	4	26484868	26484868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:26484868C>T	uc003gse.1	-	3	817	c.664G>A	c.(664-666)Gga>Aga	p.G222R		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	222					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATCACAATTCCAGGAATAAGA	0.383000														92			29		0	0	0.006320	0	0
ASMT	438	broad.mit.edu	37	X	1742086	1742086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:1742086G>A	uc004cqd.3	+	2	340	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	ASMT_uc010ncy.3_Missense_Mutation_p.G42R|ASMT_uc004cqe.3_Missense_Mutation_p.G42R	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	42					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGAGGCCCCAGGGCCCCTGGA	0.642000														20			28		0	0	0.006320	0	0
WNT5A	7474	broad.mit.edu	37	3	55504313	55504313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:55504313G>A	uc003dhn.3	-	4	1268	c.950C>T	c.(949-951)tCg>tTg	p.S317L	WNT5A_uc003dhm.3_Missense_Mutation_p.S302L|WNT5A_uc010hmw.3_Missense_Mutation_p.S302L|WNT5A_uc010hmx.3_Missense_Mutation_p.S228L	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	317					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGTGCCCAGCGAGCCGGTGCT	0.627000														20			26		0	0	0.006320	0	0
SMARCB1	6598	broad.mit.edu	37	22	24167501	24167501	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:24167501G>A	uc002zyd.3	+	6	1119	c.912G>A	c.(910-912)ctG>ctA	p.L304L	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Silent_p.L295L|SMARCB1_uc002zyc.3_Silent_p.L286L	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	295	2 X approximate tandem repeats.|Interaction with PPP1R15A.				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(6)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGTTTGCCCTGAAGCTGTGCT	0.552000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								32			31		0	0	0.002836	0	0
SLC7A2	6542	broad.mit.edu	37	8	17415852	17415852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:17415852C>T	uc011kye.2	+	7	1412	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	SLC7A2_uc011kyc.2_Missense_Mutation_p.S415F|SLC7A2_uc011kyd.2_Missense_Mutation_p.S454F	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	415					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GACATGATGTCCATTGGCACA	0.527000														48			25		0	0	0.003954	0	0
ATP10D	57205	broad.mit.edu	37	4	47570864	47570864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:47570864G>A	uc003gxk.1	+	15	3028	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E	ATP10D_uc003gxl.1_Missense_Mutation_p.G203E	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	955					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATGCCTGTGGGATGCTGATG	0.443000														34			9		0	0	0.000978	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056472	17056472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:17056472C>T	uc002nfb.3	-	21	2853	c.2821G>A	c.(2821-2823)Gga>Aga	p.G941R		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	894						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGTGTCTCCGTAAGCAAGG	0.567000														49			14		0	0	0.002450	0	0
CNTN5	53942	broad.mit.edu	37	11	99715827	99715827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:99715827G>A	uc001pga.3	+	5	914	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	CNTN5_uc009ywv.2_Missense_Mutation_p.R137Q|CNTN5_uc001pfz.3_Missense_Mutation_p.R137Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R137Q|CNTN5_uc021qpc.1_Missense_Mutation_p.R63Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	137	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R137Q(2)|p.R137L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGATGGCTTCGAAATGGAACA	0.353000														42			12		0	0	0.000978	0	0
LZTR1	8216	broad.mit.edu	37	22	21344752	21344752	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:21344752C>A	uc002zto.3	+	7	832	c.729C>A	c.(727-729)ttC>ttA	p.F243L	LZTR1_uc002ztn.3_Missense_Mutation_p.F202L|LZTR1_uc011ahy.2_Missense_Mutation_p.F224L|LZTR1_uc010gsr.1_Missense_Mutation_p.F114L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	243					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTTTGTATTCTCTGGGCAAA	0.567000														32			27		5.45727e-16	7.55834e-16	0.008361	1	0
KCND3	3752	broad.mit.edu	37	1	112524433	112524433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:112524433C>T	uc001ebu.1	-	1	1396	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	KCND3_uc001ebv.1_Missense_Mutation_p.G306S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	306						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATCCGCAGGCCCTGGGAGTGG	0.582000														20			4		0	0	0.003080	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890040	20890040	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:20890040G>A	uc010sii.2	+	12	1738	c.1383_splice	c.e12-1	p.G461_splice	SLCO1C1_uc010sij.2_Splice_Site_p.G412_splice|SLCO1C1_uc009zip.3_Splice_Site_p.G295_splice|SLCO1C1_uc001rei.3_Splice_Site_p.G461_splice|SLCO1C1_uc010sik.2_Splice_Site_p.G343_splice	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	461					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTTCTTTTCAGAACCAAACCT	0.338000														38			11		0	0	0.001368	0	0
abParts	0	broad.mit.edu	37	14	106757778	106757778	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106757778C>T	uc021ser.1	-	749		c.19600G>A								Parts of antibodies, mostly variable regions.																		TAGGATTTTTCGTCATTCGAA	0.532000														44			41		0	0	0.006999	0	0
SLFN13	146857	broad.mit.edu	37	17	33772415	33772415	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:33772415G>A	uc002hjk.1	-	0	615	c.285C>T	c.(283-285)ttC>ttT	p.F95F	SLFN13_uc010wch.1_Silent_p.F95F|SLFN13_uc002hjl.2_Silent_p.F95F|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	95						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGTCTCAAAGAAAGCCTGCA	0.403000														27			36		0	0	0.005524	0	0
OTOA	146183	broad.mit.edu	37	16	21698771	21698771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:21698771G>A	uc002djh.3	+	6	438	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R67Q	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	146					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAGAGATTCGAGAACGAGCC	0.522000														39			34		0	0	0.006999	0	0
C12orf42	374470	broad.mit.edu	37	12	103762703	103762703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:103762703G>A	uc001tjt.2	-	3	309	c.221C>T	c.(220-222)tCt>tTt	p.S74F	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.S74F|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	74										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AAATTTAGGAGATTCAGAGAA	0.363000														5			10		0	0	0.001368	0	0
URB2	9816	broad.mit.edu	37	1	229771705	229771705	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:229771705C>T	uc001hts.1	+	3	1481	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	URB2_uc009xfd.1_Nonsense_Mutation_p.Q449*	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	449						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAAAAAGCCCAGGAGGCGCT	0.502000														49			40		0	0	0.002522	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618201	77618201	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:77618201G>T	uc003yau.2	+	1	2265	c.1878G>T	c.(1876-1878)agG>agT	p.R626S	ZFHX4_uc003yat.1_Missense_Mutation_p.R626S|ZFHX4_uc003yaw.1_Missense_Mutation_p.R626S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	626						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S625L(1)		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)			GGTCTTCGAGGTCTCTTGGTG	0.532000										HNSCC(33;0.089)				20			14		7.93312e-07	1.09121e-06	0.002450	1	0
TRIM32	22954	broad.mit.edu	37	9	119461313	119461313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:119461313C>T	uc022bmo.1	+	0	1292	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.P431L|TRIM32_uc004bjx.2_Missense_Mutation_p.P431L	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	431					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AACCTCACTCCTCTCTCAGTG	0.522000														81			89		0	0	0.003610	0	0
ALOX5	240	broad.mit.edu	37	10	45938946	45938946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:45938946G>A	uc001jce.3	+	10	1633	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	ALOX5_uc009xmt.3_Missense_Mutation_p.D480N|ALOX5_uc010qfg.2_Missense_Mutation_p.D512N|ALOX5_uc021ppr.1_Missense_Mutation_p.R452Q	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	512	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTTCGTGAACGATGTCTACGT	0.687000														15			6		0	0	0.004482	0	0
KLHL6	89857	broad.mit.edu	37	3	183209743	183209743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:183209743C>T	uc003flr.3	-	6	1896	c.1838G>A	c.(1837-1839)aGg>aAg	p.R613K	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGCACGATCCTGCGGATGTG	0.672000														28			13		0	0	0.002450	0	0
SPATA16	83893	broad.mit.edu	37	3	172642058	172642058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:172642058C>T	uc003fin.4	-	7	1462	c.1278G>A	c.(1276-1278)atG>atA	p.M426I		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	426					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CCATTGTCTCCATTTGCCTCA	0.338000														46			21		0	0	0.003954	0	0
DISP2	85455	broad.mit.edu	37	15	40659789	40659789	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:40659789C>T	uc001zlk.1	+	7	1565	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	492	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGGTGTACCCCTTGCTGGCTC	0.622000														38			36		0	0	0.004289	0	0
ZNF193	7746	broad.mit.edu	37	6	28194891	28194891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:28194891C>T	uc010jqz.2	+	1	218	c.29C>T	c.(28-30)tCc>tTc	p.S10F	ZNF193_uc003nkr.2_Missense_Mutation_p.S10F|ZNF193_uc003nkq.2_Missense_Mutation_p.S10F	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	10					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						GAGGTTTTATCCCTGGGTGTT	0.463000														42			7		0	0	0.004482	0	0
UMODL1	89766	broad.mit.edu	37	21	43508581	43508581	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:43508581C>T	uc002zag.1	+	4	781	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	UMODL1_uc002zad.1_Nonsense_Mutation_p.Q189*|UMODL1_uc002zae.1_Nonsense_Mutation_p.Q189*|UMODL1_uc002zaf.1_Nonsense_Mutation_p.Q261*|UMODL1_uc010gow.1_Nonsense_Mutation_p.Q53*|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Nonsense_Mutation_p.Q53*	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	261						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GATCAGCGTCCAGGTGCAAGG	0.612000														13			9		0	0	0.008291	0	0
DSG3	1830	broad.mit.edu	37	18	29044212	29044212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:29044212G>A	uc002kws.3	+	8	1247	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	380	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.G380E(1)|p.E379*(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTAAGAGAAGGAATTGCATT	0.388000														28			14		0	0	0.002450	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998800	83998800	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:83998800C>G	uc002fha.3	+	6	871	c.871C>G	c.(871-873)Ccc>Gcc	p.P291A	OSGIN1_uc002fhb.3_Missense_Mutation_p.P208A|OSGIN1_uc002fhc.3_Missense_Mutation_p.P208A	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	291					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCCCCGATCCCAGCAGCTG	0.642000														16			27		0	0	0.007291	0	0
TRPM6	140803	broad.mit.edu	37	9	77377950	77377950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:77377950C>T	uc004ajl.1	-	25	3875	c.3637G>A	c.(3637-3639)Gat>Aat	p.D1213N	TRPM6_uc004ajk.1_Missense_Mutation_p.D1208N|TRPM6_uc022bib.1_Missense_Mutation_p.D1208N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D169N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1213					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1212*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCAGAGAGATCCTGCAGGTGT	0.468000														26			36		0	0	0.004289	0	0
ALPL	249	broad.mit.edu	37	1	21887146	21887146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:21887146G>A	uc001bet.3	+	2	346	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	ALPL_uc010odo.2_5'UTR|ALPL_uc010odp.2_5'UTR|ALPL_uc010odn.2_5'UTR|ALPL_uc001beu.4_Missense_Mutation_p.R30Q	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	30					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AAGTACTGGCGAGACCAAGCG	0.517000														26			14		0	0	0.002450	0	0
IGFN1	91156	broad.mit.edu	37	1	201195037	201195037	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:201195037G>T	uc001gwc.3	+	21	10702	c.10572G>T	c.(10570-10572)gaG>gaT	p.E3524D	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCCTGACGAGGCCCAGGATG	0.682000														5			7		2.0095e-06	2.76283e-06	0.001984	1	0
C2orf40	84417	broad.mit.edu	37	2	106688311	106688311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:106688311G>A	uc010fjf.3	+	1	199	c.91G>A	c.(91-93)Gga>Aga	p.G31R		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	31						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TGGCATAAGTGGAAATAAACT	0.358000														13			4		0	0	0.000248	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421195	62421195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:62421195G>A	uc002ygv.2	-	1	1117	c.916C>T	c.(916-918)Ccg>Tcg	p.P306S	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGCTGAACGGCCACCCCGAC	0.642000														33			41		0	0	0.003610	0	0
DNAAF2	55172	broad.mit.edu	37	14	50092606	50092607	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:50092606_50092607CC>TT	uc001wws.4	-	2	2248_2249	c.2167_2168GG>AA	c.(2167-2169)ggt>AAt	p.G723N	NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.G675N	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA.	723					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TGTAACTAAACCAAAGCTATCT	0.322000														33			21		0	0	0.004672	0	0
RANBP10	57610	broad.mit.edu	37	16	67763906	67763906	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:67763906G>A	uc002eud.3	-	7	1049	c.933C>T	c.(931-933)atC>atT	p.I311I	RANBP10_uc010ceo.3_Silent_p.I82I|RANBP10_uc010vju.2_Silent_p.I255I|RANBP10_uc010vjv.2_Silent_p.I194I|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	311	CTLH.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGTGGTCTCGATGGCCTCGC	0.632000														19			14		0	0	0.003163	0	0
ZNF99	7652	broad.mit.edu	37	19	22941109	22941109	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:22941109C>T	uc021urt.1	-	3	1757	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTTTCCAGTAT	0.338000														32			26		0	0	0.001786	0	0
MCTP1	79772	broad.mit.edu	37	5	94248651	94248651	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:94248651G>A	uc003kkx.2	-	8	1381	c.1381C>T	c.(1381-1383)Cta>Tta	p.L461L	MCTP1_uc003kkv.2_Silent_p.L240L|MCTP1_uc003kkw.2_Silent_p.L194L|MCTP1_uc003kkz.2_Silent_p.L122L|MCTP1_uc003kku.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	461	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTTCTGTGTAGGTCTGATAGG	0.428000														24			63		0	0	0.003610	0	0
GPR161	23432	broad.mit.edu	37	1	168073859	168073859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:168073859G>A	uc010pln.2	-	2	824	c.290C>T	c.(289-291)tCc>tTc	p.S97F	GPR161_uc001gfb.3_Intron|GPR161_uc001gfc.3_Missense_Mutation_p.S77F|GPR161_uc010pll.2_Intron|GPR161_uc010plm.2_Intron|GPR161_uc009wvo.3_Missense_Mutation_p.S94F|GPR161_uc001gfd.3_Missense_Mutation_p.S77F|GPR161_uc001gfe.1_Missense_Mutation_p.S77F	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	77					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CACCAACACGGACAGCAGGAA	0.537000														50			14		0	0	0.003163	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322453	79322453	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:79322453C>T	uc010mpk.3	-	7	4861	c.4737G>A	c.(4735-4737)caG>caA	p.Q1579Q	PRUNE2_uc022bih.1_Silent_p.Q1401Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1579					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTGGTGATTCTGTTCACTCC	0.408000														29			37		0	0	0.004878	0	0
DNAH10	196385	broad.mit.edu	37	12	124399040	124399040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124399040C>T	uc001uft.4	+	59	10188	c.10163C>T	c.(10162-10164)cCc>cTc	p.P3388L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3388					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)		CGGGAGATCCCCCTGAGCCAG	0.592000														16			4		0	0	0.001168	0	0
SYT12	91683	broad.mit.edu	37	11	66807475	66807475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66807475C>T	uc009yrl.3	+	3	652	c.422C>T	c.(421-423)tCc>tTc	p.S141F	SYT12_uc001oju.3_Missense_Mutation_p.S141F	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	141						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AACTCCATCTCCTCCGTGAGC	0.632000														26			13		0	0	0.001368	0	0
METTL22	79091	broad.mit.edu	37	16	8738530	8738530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:8738530C>T	uc002cyz.3	+	9	1403	c.1127C>T	c.(1126-1128)cCc>cTc	p.P376L	METTL22_uc021tcq.1_Non-coding_Transcript|BX537921_uc002czb.3_5'Flank	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	376							methyltransferase activity			large_intestine(5)|lung(4)	9						GTGGTGGAGCCCGTGGAGGCC	0.617000														41			21		0	0	0.001523	0	0
C19orf57	79173	broad.mit.edu	37	19	14006359	14006359	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:14006359C>A	uc002mxl.1	-	3	91	c.32_splice	c.e3-1	p.G11_splice	C19orf57_uc002mxk.1_5'Flank	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	11					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGTCCCTCTCCTGTTTTAGA	0.547000														57			18		1.50039e-11	2.07138e-11	0.001882	1	0
INPP5J	27124	broad.mit.edu	37	22	31529413	31529413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:31529413G>A	uc003aju.4	+	10	2445	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Missense_Mutation_p.D417N|INPP5J_uc003ajv.4_Missense_Mutation_p.D418N|INPP5J_uc003ajs.4_Missense_Mutation_p.D418N|INPP5J_uc011alk.2_Missense_Mutation_p.D718N|INPP5J_uc010gwg.3_Missense_Mutation_p.D350N	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	785	Required for ruffle localization (By similarity).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCATTGCAAGGACTATGTGGC	0.502000														12			11		0	0	0.002450	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066428	70066428	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:70066428C>T	uc003heh.3	-	5	1329	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	440					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCATAATATTCTCTTTATATC	0.348000														44			37		0	0	0.006230	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187042	140187042	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140187042C>T	uc003lhi.2	+	0	371	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.I90I|PCDHAC2_uc011daa.2_Silent_p.I90I	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGGGAGG	0.622000														49			22		0	0	0.002780	0	0
CD248	57124	broad.mit.edu	37	11	66082377	66082377	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66082377C>A	uc001ohm.1	-	0	2139	c.2122G>T	c.(2122-2124)Gtg>Ttg	p.V708L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	708						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGCAGTACACGATGCCCAGT	0.602000														7			5		0.00116845	0.00159772	0.001168	1	0
ZBBX	79740	broad.mit.edu	37	3	167039934	167039934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:167039934C>T	uc011bpc.2	-	11	1291	c.954G>A	c.(952-954)atG>atA	p.M318I	ZBBX_uc003feq.3_Missense_Mutation_p.M289I|ZBBX_uc003fep.3_Missense_Mutation_p.M318I	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	318						intracellular	zinc ion binding	p.M318V(1)		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						ATAATTTTTCCATATAGGATA	0.289000														31			28		0	0	0.008361	0	0
PUS1	80324	broad.mit.edu	37	12	132426450	132426450	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:132426450C>T	uc001ujf.3	+	4	1613	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	PUS1_uc001ujg.3_Silent_p.S358S|PUS1_uc001ujh.3_Silent_p.S358S|PUS1_uc001uji.3_Silent_p.S333S	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	386						mitochondrion	RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		ACGAACGCTCCATGGCCCAGT	0.642000														16			8		0	0	0.003080	0	0
GPR115	221393	broad.mit.edu	37	6	47682098	47682098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:47682098G>A	uc003oyz.1	+	6	1288	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	GPR115_uc003oza.1_Missense_Mutation_p.E373K|GPR115_uc003ozb.1_Missense_Mutation_p.E373K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	373					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TATCAGGAACGAAGTGAAATG	0.473000														20			23		0	0	0.001882	0	0
ZBBX	79740	broad.mit.edu	37	3	167031835	167031835	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:167031835G>A	uc011bpc.2	-	15	1681	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	ZBBX_uc003feq.3_Silent_p.F419F|ZBBX_uc003fep.3_Silent_p.F448F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	448						intracellular	zinc ion binding			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						TTCCCTTATCGAAAACATGAT	0.313000														111			33		0	0	0.002836	0	0
RNF8	9025	broad.mit.edu	37	6	37342423	37342423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:37342423C>T	uc003onq.4	+	4	1259	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	RNF8_uc003onr.4_Missense_Mutation_p.R356C|RNF8_uc011dtx.2_Missense_Mutation_p.R288C	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	356					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGAGCTAAATCGCAGCAAGAA	0.403000														23			7		0	0	0.008291	0	0
GRM3	2913	broad.mit.edu	37	7	86416163	86416163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:86416163G>A	uc003uid.3	+	2	2154	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	GRM3_uc010lef.3_Missense_Mutation_p.R350Q|GRM3_uc010leg.3_Missense_Mutation_p.R224Q|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	352					synaptic transmission	integral to plasma membrane		p.R352L(2)|p.R352Q(2)|p.R352W(1)|p.R352R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCTGGTTCCGGGACTTCTGG	0.612000														21			7		0	0	0.001984	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838513	43838513	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:43838513C>T	uc002zbe.3	+	6	925	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	UBASH3A_uc002zbf.3_Silent_p.L243L|UBASH3A_uc010gpe.3_Silent_p.L243L|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	281	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TTTCTAGACCCTGAGAGCCCT	0.517000														64			42		0	0	0.003214	0	0
OR10J3	441911	broad.mit.edu	37	1	159283943	159283943	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159283943G>A	uc010piu.2	-	0	507	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169F(2)		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)					AGGCATCACAGAATGGCAGGC	0.502000														18			20		0	0	0.008871	0	0
FLT4	2324	broad.mit.edu	37	5	180055994	180055994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:180055994G>A	uc003mlz.4	-	7	1070	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	FLT4_uc003mma.4_Missense_Mutation_p.P331S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.P331S|FLT4_uc011dgz.1_Silent_p.I274I	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	331	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGATGAAGGGATTTTCTGCC	0.652000														26			6		0	0	0.001168	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540152	169540152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:169540152G>A	uc003fgb.3	+	0	443	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	148										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTGCTCGGACTGACCGGA	0.537000														23			27		0	0	0.003954	0	0
FBXO43	286151	broad.mit.edu	37	8	101146277	101146277	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:101146277A>G	uc003yjd.3	-	5	2615	c.1879_splice	c.e5-1	p.V627_splice	FBXO43_uc003yje.3_Splice_Site_p.V593_splice	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	627					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGTTTTGGCAACCTGCAGTGA	0.383000														58			13		0	0	0.002450	0	0
ZNF24	7572	broad.mit.edu	37	18	32917642	32917642	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:32917642T>A	uc002kyt.2	-	3	818	c.661A>T	c.(661-663)Atg>Ttg	p.M221L	ZNF24_uc002kys.2_Missense_Mutation_p.M221L	NM_006965	NP_008896	P17028	ZNF24_HUMAN	Homo sapiens zinc finger protein 24 (ZNF24), mRNA.	221					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GGAACACCCATATTGAGAGTG	0.408000														30			70		0	0	0.003610	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471587	61471587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:61471587G>A	uc002ljl.3	+	7	957	c.861G>A	c.(859-861)atG>atA	p.M287I	SERPINB7_uc002ljm.3_Missense_Mutation_p.M287I|SERPINB7_uc010xet.2_Missense_Mutation_p.M270I|SERPINB7_uc010dqg.3_Missense_Mutation_p.M287I	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	287					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATTATGAAATGAAACAATATT	0.398000														22			7		0	0	0.003080	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570822	47570822	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:47570822G>A	uc002pga.4	-	14	2741	c.2703C>T	c.(2701-2703)ccC>ccT	p.P901P	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	901							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGCTGCCTTCGGGCTTGGAGG	0.701000														6			16		0	0	0.004007	0	0
OVOS2	0	broad.mit.edu	37	12	31311878	31311878	+	Silent	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:31311878A>G	uc010sjy.1	-	4	552	c.552T>C	c.(550-552)atT>atC	p.I184I						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTTCACAACAATCCAGTAAT	0.373000														144			111		0	0	0.003610	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100552	39100553	+	Missense_Mutation	DNP	GG	AA	AA	rs140049352	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:39100552_39100553GG>AA	uc002oix.1	-	11	1031_1032	c.923_924CC>TT	c.(922-924)ccc>cTT	p.P308L	MAP4K1_uc002oiy.1_Missense_Mutation_p.P308L|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	308					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCTCACCTCGGGCTCCTCATC	0.589000														41			11		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179579723	179579723	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179579723G>A	uc021vsy.1	-	86	22683	c.22458C>T	c.(22456-22458)atC>atT	p.I7486I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I4147I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8413	Ig-like 57.						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)			CTTTGAGAGCGATGGAACCAA	0.473000														70			34		0	0	0.004289	0	0
PSMC5	5705	broad.mit.edu	37	17	61907655	61907655	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61907655C>T	uc002jcb.3	+	5	427	c.346C>T	c.(346-348)Cta>Tta	p.L116L	FTSJ3_uc002jca.3_5'Flank|PSMC5_uc010ddy.3_Silent_p.L93L|PSMC5_uc002jcd.3_Silent_p.L108L	NM_002805	NP_002796	P62195	PRS8_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 5 (PSMC5), transcript variant 1, mRNA.	116					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CCGGGTGGCTCTAAGGAATGA	0.517000														44			20		0	0	0.003330	0	0
NKAIN2	154215	broad.mit.edu	37	6	125139535	125139535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:125139535G>A	uc003pzo.3	+	5	815	c.538G>A	c.(538-540)Gat>Aat	p.D180N	NKAIN2_uc010keq.3_Missense_Mutation_p.D113N|NKAIN2_uc003pzp.3_Missense_Mutation_p.D179N|NKAIN2_uc010ker.3_Missense_Mutation_p.D90N	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	180						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTTTTCAGTTGATTTCATAGG	0.348000														41			10		0	0	0.001368	0	0
VWA3B	200403	broad.mit.edu	37	2	98928408	98928408	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:98928408C>T	uc002syo.3	+	26	3912	c.3648C>T	c.(3646-3648)ctC>ctT	p.L1216L	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.L873L|VWA3B_uc002syp.1_Silent_p.L608L|VWA3B_uc002syq.1_Silent_p.L492L|VWA3B_uc002syr.1_Silent_p.L533L|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1216										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCAGCCACTCCAGCAGGCGG	0.642000														1			4		0	0	0.000248	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581143	234581143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:234581143C>T	uc002vus.3	+	0	600	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.S188F	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	191					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCTCCTCTTTCCTATGTCCCC	0.473000														54			82		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100682585	100682585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100682585G>A	uc003uxp.1	+	2	7941	c.7888G>A	c.(7888-7890)Gaa>Aaa	p.E2630K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2630	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGTAAGTAC	0.458000														170			149		0	0	0.003610	0	0
ROBO2	6092	broad.mit.edu	37	3	77147229	77147229	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:77147229C>T	uc011bgk.2	+	1	769	c.126C>T	c.(124-126)gtC>gtT	p.V42V	ROBO2_uc021xat.1_Silent_p.V58V|ROBO2_uc003dpy.4_Silent_p.V42V|ROBO2_uc003dpz.3_Silent_p.V42V|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	42	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V42I(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGTCATCGTCTCTAAGGGCG	0.557000														7			8		0	0	0.006214	0	0
CALB1	793	broad.mit.edu	37	8	91081394	91081394	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:91081394C>T	uc003yel.1	-	3	485	c.303G>A	c.(301-303)gaG>gaA	p.E101E	CALB1_uc011lge.1_Silent_p.E44E	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	101	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCATGAATTCCTCACAGGACT	0.388000														56			10		0	0	0.008291	0	0
FAM47C	442444	broad.mit.edu	37	X	37027926	37027926	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:37027926G>A	uc004ddl.2	+	0	1495	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	481										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCCAGAGAAGGACGTATCTC	0.632000														2			42		0	0	0.007835	0	0
NPY1R	4886	broad.mit.edu	37	4	164247564	164247564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:164247564C>T	uc003iqm.2	-	1	608	c.143G>A	c.(142-144)gGa>gAa	p.G48E	NPY1R_uc021xtv.1_Missense_Mutation_p.G48E|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	48					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.G48V(2)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATCACAGCTCCATAAGCAAG	0.408000														51			21		0	0	0.002299	0	0
CNTN5	53942	broad.mit.edu	37	11	100211914	100211914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:100211914G>A	uc001pga.3	+	22	3511	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CNTN5_uc021qpb.1_Missense_Mutation_p.E1003K|CNTN5_uc021qpc.1_Missense_Mutation_p.E929K|CNTN5_uc010ruk.2_Missense_Mutation_p.E274K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1003	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTAGCCAACGAATCTGAAGT	0.433000														86			25		0	0	0.003954	0	0
TCEA2	6919	broad.mit.edu	37	20	62699471	62699471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:62699471G>A	uc021wgq.1	+	3	969	c.313G>A	c.(313-315)Gag>Aag	p.E105K	TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.E78K|TCEA2_uc010gku.2_Intron	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	105					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGATGCCTCAGAGGCCCCGGA	0.622000														10			7		0	0	0.003080	0	0
SKAP1	8631	broad.mit.edu	37	17	46474139	46474139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:46474139C>T	uc002ini.1	-	1	167	c.55G>A	c.(55-57)Gag>Aag	p.E19K	SKAP1_uc002inj.1_Missense_Mutation_p.E19K|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.E19K	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	19					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GCCAGAAACTCTTCAGCATCT	0.403000														138			37		0	0	0.002852	0	0
SIRT5	23408	broad.mit.edu	37	6	13612093	13612093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:13612093C>T	uc003nay.3	+	9	1241	c.929C>T	c.(928-930)tCt>tTt	p.S310F	SIRT5_uc003nax.3_Missense_Mutation_p.S202F|SIRT5_uc011dit.2_Missense_Mutation_p.S292F	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	310					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GAAACTGTTTCTTAAGTGTCC	0.438000														187			66		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2832092	2832092	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:2832092A>C	uc022aqr.1	-	55	9011	c.8621T>G	c.(8620-8622)cTg>cGg	p.L2874R	CSMD1_uc011kwj.2_Missense_Mutation_p.L2204R|CSMD1_uc010lrg.3_Missense_Mutation_p.L885R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2875	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATAGGTAAACAGCTCTCCAGT	0.537000														11			4		0	0	0.000248	0	0
OR13C2	392376	broad.mit.edu	37	9	107367878	107367878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:107367878C>T	uc011lvq.2	-	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGAAAAAATTCCACCAGAATG	0.373000														25			24		0	0	0.005443	0	0
PCDH10	57575	broad.mit.edu	37	4	134073511	134073511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:134073511G>A	uc003iha.3	+	0	3042	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	PCDH10_uc003igz.3_Missense_Mutation_p.R739H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	739					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V738L(1)|p.V738G(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGGCCGTGCGTTGCCAAAAA	0.597000														36			12		0	0	0.004990	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:10951345G>A	uc002yip.1	-	9	735	c.367C>T	c.(367-369)Cct>Tct	p.P123S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P105S|TPTE_uc002yir.1_Missense_Mutation_p.P85S|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCCAAAGGAATATAAAGT	0.323000														141			37		0	0	0.005524	0	0
C19orf45	374877	broad.mit.edu	37	19	7573214	7573215	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7573214_7573215GG>AA	uc002mgm.2	+	8	1557_1558	c.1416_1417GG>AA	c.(1414-1419)gagggc>gaAAgc	p.G473S		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	473										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ATCCTCAGGAGGGCTTCGTGCC	0.599000														16			15		0	0	0.004672	0	0
DHCR7	1717	broad.mit.edu	37	11	71150111	71150111	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:71150111G>A	uc001oqk.3	-	6	895	c.645C>T	c.(643-645)ttC>ttT	p.F215F	DHCR7_uc001oql.3_Silent_p.F215F	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	215					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGTTGTAAAAGAAATTGCCTG	0.443000									Smith-Lemli-Opitz syndrome					14			9		0	0	0.006214	0	0
CMYA5	202333	broad.mit.edu	37	5	79034203	79034203	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:79034203G>A	uc003kgc.3	+	1	9687	c.9615G>A	c.(9613-9615)aaG>aaA	p.K3205K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3205						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGAAAAAGAAGGAAGAGG	0.403000														18			8		0	0	0.003080	0	0
METRNL	284207	broad.mit.edu	37	17	81052048	81052048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:81052048G>A	uc002kgh.3	+	3	789	c.664G>A	c.(664-666)Gac>Aac	p.D222N	METRNL_uc002kgi.3_Missense_Mutation_p.D140N	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	222						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGAGCGGCAGGACTCAGCCAT	0.642000														43			66		0	0	0.003610	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52705250	52705250	+	Silent	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52705250T>A	uc002pyp.3	+	1	427	c.132T>A	c.(130-132)gtT>gtA	p.V44V	PPP2R1A_uc010ydk.2_Nonsense_Mutation_p.L23*|PPP2R1A_uc010epm.1_Silent_p.V84V|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	44	PP2A subunit B binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTTGGGGTTGAAAGGACCC	0.517000			Mis		clear cell ovarian carcinoma									33			14		0	0	0.003163	0	0
NCOA6	23054	broad.mit.edu	37	20	33329378	33329378	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:33329378T>C	uc002xav.3	-	11	7253	c.4682A>G	c.(4681-4683)cAt>cGt	p.H1561R	NCOA6_uc002xaw.3_Missense_Mutation_p.H1561R|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.H1561R|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1561					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CAATTCGGGATGCACAAGGGA	0.473000														85			33		0	0	0.003271	0	0
BOC	91653	broad.mit.edu	37	3	113003232	113003233	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:113003232_113003233CC>TT	uc003dzx.3	+	16	3325_3326	c.2704_2705CC>TT	c.(2704-2706)ccg>TTg	p.P902L	BOC_uc003dzy.3_Missense_Mutation_p.P902L|BOC_uc003dzz.3_Missense_Mutation_p.P903L|BOC_uc003eab.3_Missense_Mutation_p.P603L|BOC_uc003eac.3_Missense_Mutation_p.P217L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	902					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACCCTCCTGCCCGTATACTATG	0.564000														40			41		0	0	0.004672	0	0
FCGBP	8857	broad.mit.edu	37	19	40420098	40420098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40420098C>T	uc002omp.4	-	5	2904	c.2896G>A	c.(2896-2898)Ggc>Agc	p.G966S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	966	VWFD 2.					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)			GCATCCCTGCCCTGTCGGAAC	0.602000														25			7		0	0	0.004482	0	0
GTF3C1	2975	broad.mit.edu	37	16	27497466	27497466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:27497466G>A	uc002dov.2	-	23	3750	c.3710C>T	c.(3709-3711)cCa>cTa	p.P1237L	GTF3C1_uc002dou.3_Missense_Mutation_p.P1237L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1237						transcription factor TFIIIC complex	DNA binding|protein binding	p.P1237S(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTTTCTCCTGGGAACTCTCC	0.562000														68			59		0	0	0.003610	0	0
AK311167	0	broad.mit.edu	37	9	69067929	69067929	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:69067929G>A	uc010mnq.2	+	2		c.526_splice	c.e2+1							Homo sapiens cDNA, FLJ18209.																		TGATATGTTGGTGAGTCAGTT	0.279000														39			18		0	0	0.002299	0	0
PPP6R3	55291	broad.mit.edu	37	11	68315627	68315627	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:68315627C>T	uc001onv.3	+	4	774	c.507C>T	c.(505-507)ctC>ctT	p.L169L	PPP6R3_uc010rqb.1_Silent_p.L78L|PPP6R3_uc001onw.3_Silent_p.L169L|PPP6R3_uc001ony.4_Silent_p.L169L|PPP6R3_uc001onx.3_Silent_p.L169L|PPP6R3_uc009ysh.3_Silent_p.L169L|PPP6R3_uc001onu.3_Silent_p.L169L|PPP6R3_uc010rqc.2_Silent_p.L78L	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	169					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCTCAGGCTCCTGACGTGTA	0.448000														90			14		0	0	0.002450	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43958684	43958684	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:43958684C>T	uc010yny.2	+	18	2969	c.2886C>T	c.(2884-2886)tcC>tcT	p.S962S	PLEKHH2_uc002rtf.3_Silent_p.S961S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	962	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAATCATTTCCCCTCTGACAA	0.338000														178			84		0	0	0.003610	0	0
TPH2	121278	broad.mit.edu	37	12	72338465	72338465	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:72338465C>T	uc009zrw.1	+	4	681	c.540_splice	c.e4+1	p.P180_splice	TPH2_uc001swy.2_Splice_Site_p.P90_splice	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	180					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCTGACCACCCAGTAAGTGTC	0.468000														25			34		0	0	0.004289	0	0
FANCM	57697	broad.mit.edu	37	14	45636355	45636355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:45636355C>T	uc001wwd.4	+	10	2090	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	FANCM_uc001wwc.2_Missense_Mutation_p.S664F|FANCM_uc010anf.3_Missense_Mutation_p.S638F|FANCM_uc001wwe.4_Missense_Mutation_p.S200F	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	664					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCTATCTTTTCCTATAGGGAT	0.358000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					43			10		0	0	0.008291	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375207	65375207	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:65375207G>A	uc001oew.3	-	3	1643	c.1150C>T	c.(1150-1152)Cta>Tta	p.L384L	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.L127L|MAP3K11_uc001oex.1_Intron	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	384					G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						ATTTCCCGTAGGACCTGTGCC	0.657000														21			11		0	0	0.000978	0	0
ZNF331	55422	broad.mit.edu	37	19	54081122	54081122	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:54081122G>A	uc002qbx.1	+	6	2742	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	ZNF331_uc002qby.1_Silent_p.A436A|ZNF331_uc002qbz.1_Silent_p.A436A|ZNF331_uc010eqr.1_Silent_p.A436A|ZNF331_uc002qca.1_Silent_p.A436A|ZNF331_uc021uzg.1_Silent_p.A436A|ZNF331_uc021uzh.1_Silent_p.A436A|ZNF331_uc002qcb.1_Silent_p.A436A|ZNF331_uc002qcc.1_Silent_p.A436A|ZNF331_uc002qcd.1_Silent_p.A436A	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACAGTGGGGCGAAATCCTACG	0.488000			T	?	follicular thyroid adenoma									23			10		0	0	0.006214	0	0
GRM3	2913	broad.mit.edu	37	7	86469000	86469000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:86469000G>A	uc003uid.3	+	3	3269	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E596K|GRM3_uc010leh.3_Missense_Mutation_p.E316K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	724					synaptic transmission	integral to plasma membrane		p.R723W(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGAGAAGCGGGAAACAGTCAT	0.498000														26			29		0	0	0.007291	0	0
CUL7	9820	broad.mit.edu	37	6	43014643	43014643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:43014643G>A	uc003otq.3	-	9	2704	c.2372C>T	c.(2371-2373)aCc>aTc	p.T791I	CUL7_uc010jyg.3_5'UTR|CUL7_uc011dvb.2_Missense_Mutation_p.T875I|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	791					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.I790F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGGATGTTGGTGATGAGTTT	0.572000														38			26		0	0	0.003954	0	0
TANC2	26115	broad.mit.edu	37	17	61396398	61396398	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61396398A>G	uc002jal.4	+	8	1323	c.1300A>G	c.(1300-1302)Act>Gct	p.T434A	TANC2_uc010wpe.2_Missense_Mutation_p.T344A	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	434							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTGCCCAGGAACTCCGGAAAT	0.502000														28			11		0	0	0.008291	0	0
EPN3	55040	broad.mit.edu	37	17	48613881	48613881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:48613881G>A	uc010wms.2	+	1	399	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	EPN3_uc002ira.4_5'UTR|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_5'UTR			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	207	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCCACCTCCGGCGGGGGCGAG	0.637000														32			10		0	0	0.008291	0	0
ANKK1	255239	broad.mit.edu	37	11	113264443	113264443	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:113264443C>T	uc001pny.3	+	1	520	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	142	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CGCCTCTGCTCCACCTGGACC	0.567000														7			4		0	0	0.000602	0	0
ABCB4	5244	broad.mit.edu	37	7	87069662	87069662	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:87069662G>A	uc003uiv.1	-	12	1489	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	ABCB4_uc003uiw.1_Silent_p.I471I|ABCB4_uc003uix.1_Silent_p.I471I	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	471	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCACACCAATGATTTCCCTCA	0.353000														43			10		0	0	0.006214	0	0
NME6	10201	broad.mit.edu	37	3	48336702	48336702	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:48336702A>G	uc003cso.3	-	4	327	c.281T>C	c.(280-282)cTt>cCt	p.L94P	NME6_uc011bbh.2_Silent_p.L73L|NME6_uc010hju.3_5'UTR|NME6_uc003csp.4_Missense_Mutation_p.L86P|NME6_uc011bbi.2_Intron	NM_005793	NP_005784	O75414	NDK6_HUMAN	Homo sapiens non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) (NME6), mRNA.	86					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|apoptosis|negative regulation of cell growth|negative regulation of mitosis	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTTGTGGGCAAGGATGTAGGC	0.557000														11			17		0	0	0.004990	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809632	18809632	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:18809632C>T	uc001bax.3	+	0	2209	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A	KLHDC7A_uc009vpg.3_Silent_p.A501A	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	719						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGTGCGCCGTGGTGGACA	0.652000														18			6		0	0	0.003080	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702047	187702047	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:187702047C>T	uc002upu.1	-	4	769	c.729G>A	c.(727-729)gaG>gaA	p.E243E		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	243					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AACACTTCCCCTCAATTGGAA	0.358000														37			15		0	0	0.004990	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242269	87242269	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:87242269G>A	uc003ydq.1	-	0	336	c.238C>T	c.(238-240)Caa>Taa	p.Q80*	SLC7A13_uc003ydr.1_Nonsense_Mutation_p.Q80*	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	80						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAATAGTATTGAGCTCCACTG	0.493000														19			12		0	0	0.000978	0	0
GPR61	83873	broad.mit.edu	37	1	110085864	110085864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110085864C>T	uc021orh.1	+	0	220	c.220C>T	c.(220-222)Cga>Tga	p.R74*	GPR61_uc001dxy.2_Nonsense_Mutation_p.R74*	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCTGCCCTCCGAAAATTTGT	0.597000														23			22		0	0	0.002299	0	0
RPS5	6193	broad.mit.edu	37	19	58904809	58904809	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:58904809G>A	uc002qsn.3	+	3	474	c.402G>A	c.(400-402)gtG>gtA	p.V134V	LOC646862_uc021vcz.1_5'Flank	NM_001009	NP_001000	P46782	RS5_HUMAN	Homo sapiens ribosomal protein S5 (RPS5), mRNA.	134					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CCGGGACTGTGAGACGACAGG	0.642000														29			9		0	0	0.000978	0	0
TIGIT	201633	broad.mit.edu	37	3	114014596	114014596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:114014596C>T	uc003ebg.2	+	1	1021	c.266C>T	c.(265-267)cCc>cTc	p.P89L		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	89	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GCCCCAGGTCCCGGCCTGGGC	0.582000														25			15		0	0	0.006122	0	0
OTOL1	131149	broad.mit.edu	37	3	161220122	161220122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:161220122G>A	uc011bpb.2	+	2	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	161	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGGGACCAAGGAGTTCCAGGA	0.418000														18			4		0	0	0.000248	0	0
CAMK1	8536	broad.mit.edu	37	3	9804607	9804607	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:9804607C>T	uc003bst.3	-	4	605	c.420G>A	c.(418-420)cgG>cgA	p.R140R	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	140	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCTTGAGATCCCGGTGTACAA	0.582000														29			7		0	0	0.001984	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903927	38903927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:38903927G>A	uc021uub.1	-	10	1536	c.1322C>T	c.(1321-1323)cCc>cTc	p.P441L	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.P372L|RASGRP4_uc021uua.1_Missense_Mutation_p.P407L|RASGRP4_uc021uuc.1_Missense_Mutation_p.P349L|RASGRP4_uc021uud.1_Missense_Mutation_p.P344L|RASGRP4_uc021uue.1_Missense_Mutation_p.P252L|RASGRP4_uc021uuf.1_Missense_Mutation_p.P427L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	441					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCATTGAAGGGGGAGGGTGG	0.642000														14			8		0	0	0.003080	0	0
SOX10	6663	broad.mit.edu	37	22	38369572	38369573	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:38369572_38369573GG>AA	uc003aun.1	-	3	1608_1609	c.1330_1331CC>TT	c.(1330-1332)ccc>TTc	p.P444F	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P444F	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	444						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	p.P444P(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGGCCCTGAGGGGCTGGGGTCA	0.673000														13			10		0	0	0.004672	0	0
OR4C16	219428	broad.mit.edu	37	11	55339658	55339658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:55339658C>T	uc010rih.2	+	0	55	c.55C>T	c.(55-57)Cct>Tct	p.P19S		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GACACAGGATCCTTTTTGGAA	0.403000														57			20		0	0	0.001882	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766691	111766691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:111766691C>T	uc010hqb.2	+	4	628	c.458C>T	c.(457-459)gCc>gTc	p.A153V	TMPRSS7_uc011bhr.1_Missense_Mutation_p.A8V	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	279					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGCTGGTGGCCATAGTGGGC	0.527000														48			13		0	0	0.002450	0	0
CELF5	60680	broad.mit.edu	37	19	3290302	3290302	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:3290302C>T	uc002lxm.3	+	10	1297	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	CELF5_uc010dtj.2_Missense_Mutation_p.P382S|CELF5_uc002lxl.2_Missense_Mutation_p.P407S|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	420	RRM 3.				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGCAGATGTTCCTACCCTTCG	0.557000														37			26		0	0	0.005443	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228860	57228860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:57228860C>T	uc010lyk.1	-	1	685	c.47G>A	c.(46-48)gGa>gAa	p.G16E	SDR16C5_uc003xsy.1_Missense_Mutation_p.G16E|SDR16C5_uc010lyl.1_Missense_Mutation_p.G16E	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	16					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAGTGATTTTCCTAAGAAAAT	0.418000														22			24		0	0	0.007291	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608156	24608156	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:24608156A>G	uc004dbi.3	-	3	703	c.470T>C	c.(469-471)tTt>tCt	p.F157S	PCYT1B_uc004dbk.4_Missense_Mutation_p.F157S|PCYT1B_uc004dbj.3_Missense_Mutation_p.F139S	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	157	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.E156E(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTTTTCCAGAAACTCTGGCGT	0.478000														1			20		0	0	0.002780	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19425764	19425764	+	RNA	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:19425764T>G	uc010tcj.1	-	0		c.20346A>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AAATTTATTGTTATTCAAATA	0.269000														12			4		0	0	0.000248	0	0
KRT8	3856	broad.mit.edu	37	12	53293662	53293662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:53293662G>A	uc009zmk.1	-	5	982	c.962C>T	c.(961-963)gCt>gTt	p.A321V	KRT8_uc001sbd.2_Missense_Mutation_p.A293V|KRT8_uc009zml.1_Missense_Mutation_p.A293V|KRT8_uc009zmm.1_Missense_Mutation_p.A293V	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	293	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCTTCCCAGCCAGGCTCTG	0.577000														10			7		0	0	0.003080	0	0
LCK	3932	broad.mit.edu	37	1	32751132	32751132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:32751132G>A	uc001bux.3	+	12	1483	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	LCK_uc001buy.3_Missense_Mutation_p.V449M|LCK_uc001buz.3_Missense_Mutation_p.V479M|LCK_uc001bva.3_Missense_Mutation_p.V456M	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	449	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CAACCCGGAGGTGATTCAGAA	0.562000			T	TRB@	T-ALL									14			28		0	0	0.002096	0	0
SPTB	6710	broad.mit.edu	37	14	65266488	65266488	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:65266488G>A	uc001xht.3	-	7	1092	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	SPTB_uc001xhr.3_Silent_p.Y347Y|SPTB_uc001xhs.3_Silent_p.Y347Y|SPTB_uc001xhu.3_Silent_p.Y347Y	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	347					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCACGGTGCGGTAGGTGCTGA	0.612000														22			6		0	0	0.001984	0	0
RTBDN	83546	broad.mit.edu	37	19	12945611	12945611	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:12945611G>A	uc002mvj.3	-	1	384	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RTBDN_uc002mvh.1_Silent_p.L22L|RTBDN_uc021upo.1_5'Flank	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	0						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCAAGGTGGGGAGGGATTCTG	0.587000														33			10		0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113326686	113326686	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:113326686C>T	uc003ynu.3	-	47	7680	c.7521G>A	c.(7519-7521)aaG>aaA	p.K2507K	CSMD3_uc003yns.3_Silent_p.K1709K|CSMD3_uc003ynt.3_Silent_p.K2467K|CSMD3_uc011lhx.2_Silent_p.K2403K|CSMD3_uc003ynw.1_Silent_p.K218K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2507	CUB 14.					integral to membrane|plasma membrane		p.E2506K(1)|p.E2506G(1)		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						CATCAAATTCCTTTTCTGTCT	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				35			16		0	0	0.007413	0	0
ERICH1	157697	broad.mit.edu	37	8	665918	665918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:665918G>A	uc003wph.3	-	1	177	c.112C>T	c.(112-114)Cca>Tca	p.P38S		NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	38										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTCTTTGGTGGATTTTGGACG	0.502000														57			41		0	0	0.002852	0	0
SEPT4	5414	broad.mit.edu	37	17	56599151	56599151	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56599151G>A	uc010wnx.2	-	7	1051	c.906C>T	c.(904-906)atC>atT	p.I302I	SEPT4_uc002iwk.2_Silent_p.I140I|SEPT4_uc010wnw.2_Silent_p.I140I|SEPT4_uc002iwl.2_Silent_p.I140I|SEPT4_uc002iwm.2_Silent_p.I287I|SEPT4_uc002iwo.2_Silent_p.I268I|SEPT4_uc002iwp.2_3'UTR|SEPT4_uc010wny.2_Silent_p.I279I|SEPT4_uc010dcy.2_3'UTR	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	287					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTAGCCAGGATAGGCACGA	0.562000														34			19		0	0	0.008871	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999641	46999641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:46999641G>A	uc001jec.3	+	2	896	c.761G>A	c.(760-762)gGg>gAg	p.G254E	GPRIN2_uc021ppt.1_Missense_Mutation_p.G254E	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	254										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCTGCCACAGGGATCCTGGCC	0.627000														37			4		0	0	0.000602	0	0
EXOC4	60412	broad.mit.edu	37	7	133602416	133602416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:133602416C>T	uc003vrk.3	+	12	1987	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	EXOC4_uc011kpo.2_Missense_Mutation_p.S550F|EXOC4_uc003vrl.3_Missense_Mutation_p.S261F|EXOC4_uc011kpp.2_Missense_Mutation_p.S183F	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	651					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CTCTTGAAATCTCTACCAAAC	0.403000														36			30		0	0	0.008361	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207946	140207946	+	Silent	SNP	C	T	T	rs140846988	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140207946C>T	uc003lho.2	+	0	297	c.270C>T	c.(268-270)atC>atT	p.I90I	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_uc003lhn.2_Silent_p.I90I|PCDHAC2_uc011dab.2_Silent_p.I90I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.602000														141			7		0	0	0.008291	0	0
RASGRF2	5924	broad.mit.edu	37	5	80476039	80476039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:80476039G>A	uc003kha.2	+	17	2782	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	911					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R911R(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTTATTATACGGAGAACGGCT	0.448000														39			66		0	0	0.003610	0	0
CGNL1	84952	broad.mit.edu	37	15	57753911	57753911	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:57753911C>T	uc010bfw.3	+	8	2417	c.2224C>T	c.(2224-2226)Ctg>Ttg	p.L742L	CGNL1_uc002aeg.3_Silent_p.L742L	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	742						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCTTCAAGATCTGCTGATTGC	0.498000														76			25		0	0	0.006320	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882320	228882320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:228882320C>T	uc002vpq.2	-	6	3297	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1084K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1084K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1084						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAATGCTTTCGCAGCTGGAG	0.622000														10			29		0	0	0.007291	0	0
ARMC1	55156	broad.mit.edu	37	8	66517673	66517673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:66517673G>A	uc003xvl.3	-	4	821	c.566C>T	c.(565-567)tCa>tTa	p.S189L	ARMC1_uc011leo.2_Missense_Mutation_p.S87L	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	189					metal ion transport		metal ion binding	p.R188H(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TTTCAAATCTGAACGGATTCG	0.333000														50			27		0	0	0.003755	0	0
DSCAM	1826	broad.mit.edu	37	21	41725524	41725524	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:41725524A>T	uc002yyq.1	-	4	1254	c.802T>A	c.(802-804)Tca>Aca	p.S268T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	268	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACCTCCCTGAAAGTTCCAGG	0.577000														11			12		0	0	0.000978	0	0
GPR98	84059	broad.mit.edu	37	5	89943465	89943465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:89943465G>A	uc003kju.3	+	16	3269	c.3173G>A	c.(3172-3174)gGa>gAa	p.G1058E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1058	Calx-beta 8.				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)		GTTGAAAAAGGAGAAACGCTC	0.413000														29			59		0	0	0.003610	0	0
KIDINS220	57498	broad.mit.edu	37	2	8958895	8958895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:8958895G>A	uc002qzc.2	-	2	319	c.137C>T	c.(136-138)gCc>gTc	p.A46V	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.A4V|KIDINS220_uc010yiw.1_Missense_Mutation_p.A46V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	46					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCTTGTTCGGCAGCTATCAT	0.328000														26			46		0	0	0.003610	0	0
SLC10A6	345274	broad.mit.edu	37	4	87769914	87769914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:87769914C>T	uc003hqd.2	-	0	503	c.355G>A	c.(355-357)Gtt>Att	p.V119I		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	119						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCTCCATCAACCCAGAAGGTG	0.493000														46			43		0	0	0.003610	0	0
CLTC	1213	broad.mit.edu	37	17	57758365	57758365	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:57758365C>T	uc002ixr.1	+	18	3467	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	CLTC_uc002ixp.3_Silent_p.L1004L|CLTC_uc002ixq.1_Silent_p.L1004L	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1004	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTAATGAACTCATTGAACTGC	0.408000			T	"""ALK, TFE3"""	"""ALCL, renal """									81			45		0	0	0.003214	0	0
PCDH18	54510	broad.mit.edu	37	4	138451346	138451346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:138451346G>A	uc003ihe.4	-	0	2284	c.1897C>T	c.(1897-1899)Cca>Tca	p.P633S	PCDH18_uc003ihf.4_Missense_Mutation_p.P626S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P413S|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	633	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATGATCGTGGATCAATTATG	0.443000														92			71		0	0	0.003610	0	0
PRR11	55771	broad.mit.edu	37	17	57274954	57274954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:57274954G>A	uc002ixf.2	+	7	1219	c.907G>A	c.(907-909)Gat>Aat	p.D303N	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	303										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TAGAAAAGTCGATGTAGAGAG	0.378000														51			16		0	0	0.008871	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709918	70709918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:70709918C>T	uc003heo.3	-	6	846	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	245					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTCATAATTTCGTCTGGCAGT	0.428000														69			56		0	0	0.003610	0	0
CRYGN	155051	broad.mit.edu	37	7	151127247	151127247	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:151127247A>G	uc003wke.3	-	3	532	c.436T>C	c.(436-438)Ttc>Ctc	p.F146L	CRYGN_uc003wkf.3_3'UTR|CRYGN_uc003wkg.3_Non-coding_Transcript	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	146										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCTCCGAAGCTTCTAGGG	0.562000														18			15		0	0	0.002450	0	0
FBXO30	84085	broad.mit.edu	37	6	146121323	146121323	+	Silent	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:146121323G>T	uc003qla.3	-	2	2356	c.2157C>A	c.(2155-2157)atC>atA	p.I719I	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	719							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATGGCAAAGGGATTGCTTCCT	0.393000														54			46		6.4308e-24	8.92722e-24	0.003610	1	0
LDHAL6B	92483	broad.mit.edu	37	15	59499502	59499502	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:59499502G>A	uc002agb.3	+	0	461	c.363G>A	c.(361-363)acG>acA	p.T121T	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	121					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GCCCTTTCACGAAAATGCCAA	0.428000														66			21		0	0	0.001523	0	0
ZNF530	348327	broad.mit.edu	37	19	58118495	58118495	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:58118495C>T	uc002qpk.2	+	2	1822	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTCTGCCCTCCTTCAGCATA	0.458000														36			7		0	0	0.001984	0	0
HECTD1	25831	broad.mit.edu	37	14	31570189	31570189	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:31570189T>A	uc001wrc.1	-	42	8269	c.7780A>T	c.(7780-7782)Atg>Ttg	p.M2594L	HECTD1_uc001wra.1_Missense_Mutation_p.M720L|HECTD1_uc001wrb.1_Missense_Mutation_p.M720L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	2594	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CGCTCTCTCATGATCTCCTCG	0.418000														44			36		0	0	0.004289	0	0
CLCA2	9635	broad.mit.edu	37	1	86920861	86920861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:86920861C>T	uc001dlr.4	+	13	2645	c.2483C>T	c.(2482-2484)cCt>cTt	p.P828L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	828					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGCGAAATCCTCAGCAAGCT	0.378000														42			10		0	0	0.006214	0	0
SPINK5	11005	broad.mit.edu	37	5	147499859	147499859	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:147499859G>A	uc003lox.2	+	26	2515	c.2442_splice	c.e26-1	p.L814_splice	SPINK5_uc010jgr.2_Splice_Site_p.L795_splice|SPINK5_uc003low.2_Splice_Site_p.L814_splice|SPINK5_uc003loy.2_Splice_Site_p.L814_splice	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	814	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCCCAGGGAAAGGGAAGC	0.388000														4			11		0	0	0.000978	0	0
TINAG	27283	broad.mit.edu	37	6	54219385	54219385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:54219385G>A	uc003pcj.2	+	8	1347	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	401					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.E401*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CACAAATAAAGAATCAGAAAA	0.323000														26			29		0	0	0.008361	0	0
ZNF407	55628	broad.mit.edu	37	18	72347586	72347586	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:72347586C>T	uc002llw.2	+	0	4664	c.4611C>T	c.(4609-4611)aaC>aaT	p.N1537N	ZNF407_uc010xfc.2_Silent_p.N1537N|ZNF407_uc010dqu.2_Silent_p.N1537N|ZNF407_uc002llu.2_Silent_p.N1536N	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACCAGGGAAACGTCTGCAAGT	0.488000														15			18		0	0	0.006122	0	0
ASMTL	8623	broad.mit.edu	37	X	1546840	1546840	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:1546840G>A	uc004cpx.2	-	6	821	c.684C>T	c.(682-684)tcC>tcT	p.S228S	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Silent_p.S212S|ASMTL_uc011mhe.2_Silent_p.S152S|ASMTL_uc011mhf.2_Silent_p.S170S	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	228					melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCGGGATGGAGTCGTGCT	0.672000														28			10		0	0	0.006214	0	0
CRTC3	64784	broad.mit.edu	37	15	91147627	91147628	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:91147627_91147628CC>TT	uc002bpp.3	+	4	530_531	c.424_425CC>TT	c.(424-426)cct>TTt	p.P142F	CRTC3_uc002bpo.3_Missense_Mutation_p.P142F	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	142					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGCAGCCTCCTTGGAAAGAC	0.441000			T	MAML2	salivary gland mucoepidermoid									69			16		0	0	0.004672	0	0
COL21A1	81578	broad.mit.edu	37	6	56044748	56044748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:56044748G>A	uc003pcs.3	-	2	500	c.268C>T	c.(268-270)Cct>Tct	p.P90S	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.P90S|COL21A1_uc003pcu.1_Missense_Mutation_p.P90S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	90	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTCCGAGAGGAATCTCCAGC	0.438000														14			20		0	0	0.008871	0	0
RGS7	6000	broad.mit.edu	37	1	241031944	241031944	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:241031944A>C	uc001hyt.2	-	1	102	c.48T>G	c.(46-48)atT>atG	p.I16M	RGS7_uc010pyh.2_Missense_Mutation_p.I158M|RGS7_uc010pyj.1_Missense_Mutation_p.I100M|RGS7_uc001hyu.2_Missense_Mutation_p.I184M|RGS7_uc009xgn.1_Missense_Mutation_p.I131M|RGS7_uc001hyv.2_Missense_Mutation_p.I184M|RGS7_uc001hyw.2_Missense_Mutation_p.I184M	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	184					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTCCTTTCAATCTTGTCTC	0.458000														56			16		0	0	0.004990	0	0
ZNF676	163223	broad.mit.edu	37	19	22363113	22363113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:22363113C>T	uc002nqs.1	-	2	1724	c.1406G>A	c.(1405-1407)aGa>aAa	p.R469K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K468N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTT	0.393000														68			20		0	0	0.001882	0	0
DNAH9	1770	broad.mit.edu	37	17	11572944	11572944	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:11572944C>T	uc002gne.3	+	16	3254	c.3186C>T	c.(3184-3186)atC>atT	p.I1062I	DNAH9_uc010coo.3_Silent_p.I356I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1062	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGTGCAAATCGACTCCTATG	0.483000														87			25		0	0	0.005443	0	0
KRT71	112802	broad.mit.edu	37	12	52944001	52944001	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:52944001C>T	uc001sao.3	-	1	538	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	156	Coil 1A.|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)		TCTCCAGTACCTGGTTCTGCT	0.557000														39			14		0	0	0.003163	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153909092	153909092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:153909092C>T	uc021xgc.1	+	7	1939	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	ARHGEF26_uc011bog.1_Missense_Mutation_p.S552F|ARHGEF26_uc011boh.1_Missense_Mutation_p.S552F	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	552	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ACCAATCCATCCTTTAAGGAA	0.393000														9			13		0	0	0.003163	0	0
ADORA1	134	broad.mit.edu	37	1	203134668	203134668	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:203134668C>T	uc010pqh.1	+	2	757	c.720C>T	c.(718-720)atC>atT	p.I240I	ADORA1_uc001gzf.1_Silent_p.I207I|ADORA1_uc001gze.1_Silent_p.I207I|ADORA1_uc010pqg.1_Silent_p.I139I|ADORA1_uc009xak.1_Missense_Mutation_p.P133S	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	207					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTACCTAATCCGCAAGCAGC	0.552000														26			22		0	0	0.002299	0	0
CIT	11113	broad.mit.edu	37	12	120241103	120241103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:120241103G>A	uc001txj.2	-	9	1258	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.P401L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	401	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCTGGCACGGAGAGGATGA	0.527000														38			47		0	0	0.003610	0	0
MTMR4	9110	broad.mit.edu	37	17	56585613	56585613	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56585613T>C	uc002iwj.2	-	7	684	c.574A>G	c.(574-576)Aag>Gag	p.K192E		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	192	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCAGCAGCTTCTGGGGGTAA	0.557000														50			23		0	0	0.003330	0	0
GGT8P	645367	broad.mit.edu	37	2	91969081	91969081	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:91969081G>A	uc010fho.1	+	1		c.1412G>A								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		TCCTGCTGCGGCTGGCTGACA	0.622000														4			4		0	0	0.000248	0	0
KRT39	390792	broad.mit.edu	37	17	39123069	39123069	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39123069T>C	uc002hvo.1	-	0	76	c.40A>G	c.(40-42)Acc>Gcc	p.T14A	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	14	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TGACATGGGGTTGAAGGAGAA	0.468000														78			71		0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581953	84581953	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:84581953C>T	uc002bjz.4	+	15	2034	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	ADAMTSL3_uc010bmt.1_Silent_p.L604L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	604	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAGACTGAGCTGCCCGAGGA	0.632000														31			11		0	0	0.000978	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:173526501C>T	uc001giz.2	-	9	1616	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	398					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363000														107			40		0	0	0.007835	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469567	21469567	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:21469567G>A	uc001vyr.3	+	3	951	c.759G>A	c.(757-759)ggG>ggA	p.G253G	SLC39A2_uc001vys.3_Silent_p.G154G	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	253						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CTGAAGGAGGGCGGGGCTTAG	0.572000														34			29		0	0	0.007291	0	0
SCN3A	6328	broad.mit.edu	37	2	165984148	165984148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:165984148C>T	uc002ucx.3	-	17	3878	c.3386G>A	c.(3385-3387)aGc>aAc	p.S1129N	SCN3A_uc002ucy.3_Missense_Mutation_p.S1080N|SCN3A_uc002ucz.3_Missense_Mutation_p.S1080N|SCN3A_uc002uda.1_Missense_Mutation_p.S949N|SCN3A_uc002udb.1_Missense_Mutation_p.S949N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1129						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1128K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TACCTCTTTGCTTTCTTCTAG	0.358000														27			19		0	0	0.007413	0	0
GFRAL	389400	broad.mit.edu	37	6	55198660	55198660	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55198660C>T	uc003pcm.1	+	2	320	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	78						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGCAATTTCCAATTTAAAG	0.348000														88			77		0	0	0.003610	0	0
GPT2	84706	broad.mit.edu	37	16	46952658	46952658	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:46952658C>T	uc002eel.3	+	7	1120	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G	GPT2_uc002eem.3_Silent_p.G242G	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	342					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCTCCAAGGGCTACATGGGCG	0.637000														38			7		0	0	0.001984	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291314	141291314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:141291314G>A	uc022cfj.1	-	0	460	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F	MAGEC2_uc004fbu.2_Missense_Mutation_p.L154F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	154	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTATTTGAGGAGCAGGAAC	0.488000										HNSCC(46;0.14)				38			42		0	0	0.002222	0	0
OR52I1	390037	broad.mit.edu	37	11	4615299	4615299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4615299G>A	uc010qyi.2	+	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACACAATGGAAACCCCTGC	0.468000														68			66		0	0	0.003610	0	0
FERMT3	83706	broad.mit.edu	37	11	63987457	63987457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:63987457G>A	uc001nyl.2	+	9	1335	c.1186G>A	c.(1186-1188)Ggg>Agg	p.G396R	FERMT3_uc001nym.2_Missense_Mutation_p.G392R	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	396	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGAGGCCCCTGGGGACCCCAT	0.622000														12			6		0	0	0.003080	0	0
LRRC29	26231	broad.mit.edu	37	16	67241580	67241580	+	Silent	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:67241580T>C	uc002esd.3	-	3	1497	c.600A>G	c.(598-600)caA>caG	p.Q200Q	LRRC29_uc002ese.3_Silent_p.Q200Q|LRRC29_uc002esf.3_Silent_p.Q200Q|LRRC29_uc002esg.3_Silent_p.Q200Q	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	Homo sapiens leucine rich repeat containing 29 (LRRC29), transcript variant 1, mRNA.	200										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCAGCTGGGCTTGGAAGCGTC	0.637000														17			14		0	0	0.004990	0	0
C1orf106	55765	broad.mit.edu	37	1	200880918	200880918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:200880918C>T	uc001gvo.3	+	8	1594	c.1552C>T	c.(1552-1554)Ccg>Tcg	p.P518S	C1orf106_uc010ppm.2_Missense_Mutation_p.P433S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCTATTTCCCGGCGGGGCG	0.731000														15			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179592958	179592958	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179592958G>A	uc021vsy.1	-	63	16086	c.15861C>T	c.(15859-15861)tgC>tgT	p.C5287C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.C1948C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6214	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)			ATCTCTCATGGCACACAAGTC	0.393000														23			5		0	0	0.000602	0	0
TLR8	51311	broad.mit.edu	37	X	12939916	12939916	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:12939916G>A	uc004cvd.3	+	2	2981	c.2811G>A	c.(2809-2811)gaG>gaA	p.E937E	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.E919E	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	919	TIR.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTCTAGAGGAGAGGGATTGGG	0.438000														1			47		0	0	0.003610	0	0
AZU1	566	broad.mit.edu	37	19	830846	830846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:830846C>T	uc002lpz.1	+	3	515	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	167	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CTCCCGTTTTCCCAGGTTTGT	0.662000														10			19		0	0	0.001523	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979347	111979347	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:111979347G>A	uc004bdz.1	-	15	1783	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	496						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGCGGTGAGGAACGGTGTGC	0.582000														12			18		0	0	0.006122	0	0
MBD3	53615	broad.mit.edu	37	19	1578341	1578341	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:1578341A>T	uc002ltj.3	-	5	896	c.874T>A	c.(874-876)Tag>Aag	p.*292K	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Nonstop_Mutation_p.*260K|MBD3_uc002ltl.1_Nonstop_Mutation_p.*292K	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	0					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGCCCTAGACGTGCTCC	0.692000														11			9		0	0	0.008291	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421999	62421999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:62421999C>T	uc002ygv.2	-	1	313	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	38	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ACCTTGCCCTCCACGACCACG	0.612000														22			24		0	0	0.003330	0	0
C3orf43	255798	broad.mit.edu	37	3	196236461	196236461	+	Missense_Mutation	SNP	C	T	T	rs79673145	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:196236461C>T	uc003fws.3	-	1	287	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	C3orf43_uc003fwr.3_Missense_Mutation_p.E36K	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA.	44						integral to membrane		p.E44K(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	8	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		CTATGATGTTCGAATTTCTGC	0.438000														49			16		0	0	0.004990	0	0
ARSE	415	broad.mit.edu	37	X	2853178	2853178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:2853178C>T	uc011mhh.2	-	11	2001	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	ARSE_uc011mhi.2_Missense_Mutation_p.A435T|ARSE_uc004crc.4_Missense_Mutation_p.A489T			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	489					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCACCGGCTCCCTCTGGC	0.502000														4			5		0	0	0.001168	0	0
ATP10D	57205	broad.mit.edu	37	4	47538910	47538910	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:47538910C>T	uc003gxk.1	+	8	1515	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Nonsense_Mutation_p.R436*	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	451					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATGGTTTTTCGAAGATGTAG	0.443000														32			5		0	0	0.001168	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086964	39086964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:39086964C>T	uc011aej.1	-	2	549	c.496G>A	c.(496-498)Gag>Aag	p.E166K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E166K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	166					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATAATTCCCTCTGGGCATTTA	0.423000														41			29		0	0	0.002096	0	0
CALN1	83698	broad.mit.edu	37	7	71488734	71488734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:71488734C>T	uc003twb.4	-	4	800	c.409G>A	c.(409-411)Gat>Aat	p.D137N	CALN1_uc003twa.4_Missense_Mutation_p.D95N|CALN1_uc003twc.4_Missense_Mutation_p.D95N	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	95						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATGAATTCATCAAAATCCACC	0.458000														45			35		0	0	0.004878	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450995	117450996	+	Silent	DNP	GA	AG	AG			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:117450995_117450996GA>AG	uc003vjf.3	-	2	329_330	c.237_238TC>CT	c.(235-240)aatcta>aaCTta	p.79_80NL>NL		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	79										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGTCATTTAGATTAAATCTCC	0.431000														45			30		0	0	0.004672	0	0
MYLK3	91807	broad.mit.edu	37	16	46746678	46746678	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:46746678G>A	uc002eei.4	-	9	2112	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	MYLK3_uc010vge.2_Nonsense_Mutation_p.R325*	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	666	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCTTCTCTCGAGGCTTGTAC	0.552000														26			7		0	0	0.003080	0	0
GNAO1	2775	broad.mit.edu	37	16	56370700	56370700	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:56370700G>A	uc002eit.4	+	5	1548	c.651G>A	c.(649-651)gaG>gaA	p.E217E	GNAO1_uc002eiu.4_Silent_p.E217E	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	217					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				ATTGCTTCGAGGACGTCACGG	0.627000														10			6		0	0	0.001168	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50464858	50464858	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:50464858G>A	uc001vdk.2	+	0	314	c.132G>A	c.(130-132)gtG>gtA	p.V44V						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GGGAATTGGTGATATGTGCAG	0.507000														10			9		0	0	0.004482	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627233	21627233	+	Silent	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:21627233T>A	uc004czx.2	+	19	2670	c.2190T>A	c.(2188-2190)ctT>ctA	p.L730L	CNKSR2_uc004czw.3_Silent_p.L730L|CNKSR2_uc011mjn.2_Silent_p.L681L|CNKSR2_uc011mjo.2_Silent_p.L700L|CNKSR2_uc004czy.3_Silent_p.L322L	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	730					regulation of signal transduction	cytoplasm|membrane	protein binding	p.R729*(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATAGCCGACTTTCCTCCACGG	0.502000														1			33		0	0	0.004878	0	0
COG8	84342	broad.mit.edu	37	16	69368747	69368747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:69368747G>A	uc002ewy.2	-	2	1161	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W		NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	364					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AACTGACCCCGGAAATCAGCT	0.557000														21			25		0	0	0.003330	0	0
DNAH3	55567	broad.mit.edu	37	16	20976520	20976520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:20976520G>A	uc010vbe.2	-	52	8686	c.8686C>T	c.(8686-8688)Cgc>Tgc	p.R2896C	DNAH3_uc010vbd.2_Missense_Mutation_p.R331C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2896	Stalk (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)		TTGGCCACGCGATCGTACACC	0.567000														76			30		0	0	0.002096	0	0
UNC5B	219699	broad.mit.edu	37	10	73051457	73051457	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:73051457C>T	uc001jro.3	+	9	2014	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	UNC5B_uc001jrp.3_Silent_p.F510F	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	521					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.H520N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCCACTTCCTGCACCTGC	0.697000														15			5		0	0	0.001168	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672638	141672638	+	Silent	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:141672638C>A	uc003vwx.1	-	0	936	c.852G>T	c.(850-852)ggG>ggT	p.G284G		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	284					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTGCCATTATCCCAACACAAA	0.512000														46			25		1.39806e-14	1.93276e-14	0.008361	1	0
ROS1	6098	broad.mit.edu	37	6	117686268	117686268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:117686268C>T	uc003pxp.1	-	19	3272	c.3073G>A	c.(3073-3075)Gga>Aga	p.G1025R	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1025	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		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)		GGGCCCTTTCCCCAGTAGGTA	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									32			22		0	0	0.002299	0	0
ALPL	249	broad.mit.edu	37	1	21889719	21889719	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:21889719G>A	uc001bet.3	+	4	671	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ALPL_uc010odo.2_Silent_p.R83R|ALPL_uc010odp.2_Silent_p.R61R|ALPL_uc010odn.2_Silent_p.R86R|ALPL_uc001beu.4_Silent_p.R138R	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	138					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGCGTTCCCGGTGCAACACCA	0.687000														22			4		0	0	0.000248	0	0
ADD1	118	broad.mit.edu	37	4	2910299	2910299	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:2910299T>C	uc003gfq.3	+	11	1854	c.1666T>C	c.(1666-1668)Tgt>Cgt	p.C556R	ADD1_uc003gfo.3_Missense_Mutation_p.C556R|ADD1_uc003gfp.3_Missense_Mutation_p.C525R|ADD1_uc003gfr.3_Missense_Mutation_p.C525R|ADD1_uc003gfs.3_Missense_Mutation_p.C525R	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	525					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGGTTTTGTGTGGTGTAGT	0.547000														17			19		0	0	0.001523	0	0
WDR59	79726	broad.mit.edu	37	16	74949875	74949875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:74949875G>A	uc002fdh.1	-	12	1219	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	WDR59_uc002fdi.3_Missense_Mutation_p.P373S|WDR59_uc021tli.1_Missense_Mutation_p.P352S|WDR59_uc002fdg.1_5'UTR	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	373								p.P372S(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGATTTCTAGGGGGATCTTCT	0.458000														24			24		0	0	0.005443	0	0
NDNF	79625	broad.mit.edu	37	4	121957664	121957664	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:121957664T>G	uc003idq.1	-	3	1989	c.1462A>C	c.(1462-1464)Aac>Cac	p.N488H		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	488	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCATTGTAGTTATCATCCACT	0.428000														43			34		0	0	0.002836	0	0
PEG3	5178	broad.mit.edu	37	19	57325321	57325321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:57325321C>T	uc002qnu.2	-	6	4840	c.4489G>A	c.(4489-4491)Gag>Aag	p.E1497K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1468K|PEG3_uc002qnv.2_Missense_Mutation_p.E1497K|PEG3_uc002qnw.2_Missense_Mutation_p.E1373K|PEG3_uc002qnx.2_Missense_Mutation_p.E1371K|PEG3_uc010etr.2_Missense_Mutation_p.E1497K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1497	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		ACCTGAATCTCTTGATCTTCA	0.488000														56			25		0	0	0.003954	0	0
COL27A1	85301	broad.mit.edu	37	9	116958288	116958288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:116958288G>A	uc011lxl.2	+	6	2120	c.2120G>A	c.(2119-2121)cGa>cAa	p.R707Q	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.R539Q	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	707	Collagen-like 2.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTCCGGGACGAAAGGTACTG	0.597000														51			22		0	0	0.003330	0	0
CD69	969	broad.mit.edu	37	12	9906184	9906184	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:9906184A>G	uc001qwk.3	-	5	573	c.492_splice	c.e5-1	p.W164_splice		NM_001781	NP_001772	Q07108	CD69_HUMAN	Homo sapiens CD69 molecule (CD69), transcript variant 1, mRNA.	164	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						GTAACGTTGAACCTGTCAAAC	0.353000														10			14		0	0	0.003163	0	0
DTNA	1837	broad.mit.edu	37	18	32398181	32398181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:32398181C>T	uc010dmn.1	+	6	764	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	DTNA_uc002kxu.2_Missense_Mutation_p.R255C|DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Missense_Mutation_p.R255C|DTNA_uc002kxw.2_Missense_Mutation_p.R255C|DTNA_uc002kxx.2_Missense_Mutation_p.R255C|DTNA_uc002kxz.2_Missense_Mutation_p.R255C|DTNA_uc002kxy.2_Missense_Mutation_p.R255C|DTNA_uc010dmj.3_Missense_Mutation_p.R255C|DTNA_uc002kyb.4_Missense_Mutation_p.R255C|DTNA_uc010dml.3_Missense_Mutation_p.R255C|DTNA_uc010dmm.3_Missense_Mutation_p.R255C|DTNA_uc010xby.1_Missense_Mutation_p.R5C|DTNA_uc021uiq.1_Missense_Mutation_p.R5C|DTNA_uc021uir.1_Missense_Mutation_p.R5C|DTNA_uc002kyd.4_5'Flank|DTNA_uc010dmo.3_5'Flank|DTNA_uc002kye.3_5'Flank|DTNA_uc010xca.2_5'Flank|DTNA_uc010xbz.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	255	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATGGGATTTCGCTACCGATG	0.468000														36			12		0	0	0.001855	0	0
FAM71B	153745	broad.mit.edu	37	5	156589651	156589651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:156589651C>T	uc003lwn.3	-	1	1725	c.1625G>A	c.(1624-1626)aGg>aAg	p.R542K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	542						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAGTGGCCCTGAGGCTCCT	0.463000														304			147		0	0	0.003610	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6938851	6938851	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrY:6938851A>C	uc004frb.3	+	9	1328	c.681A>C	c.(679-681)gaA>gaC	p.E227D	TBL1Y_uc004frc.3_Missense_Mutation_p.E227D|TBL1Y_uc004frd.3_Missense_Mutation_p.E227D|TBL1Y_uc011nap.2_Missense_Mutation_p.E69D	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	227					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						GTATACGAGAAGGGGGGCACG	0.488000														1			37		0	0	0.004878	0	0
LACTB	114294	broad.mit.edu	37	15	63433670	63433670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:63433670C>T	uc002alw.3	+	5	1382	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L		NM_032857	NP_116246	P83111	LACTB_HUMAN	Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	437						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TACCTCAAACCAGAAACAATG	0.423000														43			13		0	0	0.002450	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045627	184045627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:184045627C>T	uc003fnp.3	+	25	4061	c.3790C>T	c.(3790-3792)Cag>Tag	p.Q1264*	EIF4G1_uc010hxx.3_Nonsense_Mutation_p.Q1271*|EIF4G1_uc003fnt.3_Nonsense_Mutation_p.Q975*|EIF4G1_uc010hxy.3_Nonsense_Mutation_p.Q1271*|EIF4G1_uc003fnq.3_Nonsense_Mutation_p.Q1177*|EIF4G1_uc003fnr.3_Nonsense_Mutation_p.Q1100*|EIF4G1_uc003fns.3_Nonsense_Mutation_p.Q1224*|EIF4G1_uc003fnv.4_Nonsense_Mutation_p.Q1265*|EIF4G1_uc003fnw.3_Nonsense_Mutation_p.Q1271*|EIF4G1_uc003fnx.3_Nonsense_Mutation_p.Q1069*	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1264	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGCAGTCCAGTGCGTGCA	0.612000														19			20		0	0	0.002780	0	0
KCTD20	222658	broad.mit.edu	37	6	36449397	36449397	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:36449397C>T	uc003ome.3	+	5	1108	c.717C>T	c.(715-717)ctC>ctT	p.L239L	KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Silent_p.L73L|KCTD20_uc011dto.2_5'UTR|KCTD20_uc011dtm.2_Silent_p.L94L	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	239						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						ATCACTACCTCGAAGAGCTCA	0.478000														39			44		0	0	0.003610	0	0
PRKG2	5593	broad.mit.edu	37	4	82126026	82126026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:82126026G>A	uc003hmh.2	-	0	189	c.176C>T	c.(175-177)tCg>tTg	p.S59L	PRKG2_uc011cch.1_Missense_Mutation_p.S59L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	59					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.S59L(3)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTCTGCTTCGACAGCTGCTC	0.557000														39			49		0	0	0.003610	0	0
RSBN1	54665	broad.mit.edu	37	1	114319871	114319871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:114319871G>A	uc001edq.3	-	3	1655	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	540						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCTGCTGTAGGGATCATCTG	0.423000														58			27		0	0	0.007291	0	0
RBM15	64783	broad.mit.edu	37	1	110882213	110882213	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110882213G>A	uc001dzl.1	+	0	269	c.186G>A	c.(184-186)gaG>gaA	p.E62E	RBM15_uc001dzm.1_Silent_p.E62E|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Silent_p.E62E	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	62	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGTGGTGAGGACTCGACTT	0.647000			T	MKL1	acute megakaryocytic leukemia									17			8		0	0	0.008291	0	0
CLCN7	1186	broad.mit.edu	37	16	1505732	1505732	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:1505732G>A	uc002clv.2	-	11	1091	c.981_splice	c.e11+1	p.I327_splice	CLCN7_uc002clw.2_Splice_Site_p.I303_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	327						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGGAACTTACGATCCTCCAGG	0.637000														41			7		0	0	0.004482	0	0
MYO9A	4649	broad.mit.edu	37	15	72141213	72141213	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:72141213G>A	uc002atl.4	-	38	7283	c.6810C>T	c.(6808-6810)acC>acT	p.T2270T	MYO9A_uc002atk.3_Silent_p.T1065T	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2270	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGACAACCTGGTCTTTGCCT	0.383000														70			16		0	0	0.004007	0	0
CUL1	8454	broad.mit.edu	37	7	148486871	148486871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:148486871G>A	uc010lpg.3	+	14	2153	c.1627G>A	c.(1627-1629)Ggg>Agg	p.G543R	CUL1_uc003wey.3_Missense_Mutation_p.G543R|CUL1_uc003wez.3_Missense_Mutation_p.G433R|CUL1_uc003wfa.3_Missense_Mutation_p.G204R	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	543					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCTGAGCTCCGGGTCCTGGCC	0.483000														90			79		0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144946633	144946633	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:144946633C>T	uc003zaa.1	-	0	802	c.789G>A	c.(787-789)gaG>gaA	p.E263E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	263						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCCTGCCCTCCCGCAGAC	0.701000														2			3		0	0	0.000248	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51916984	51916984	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51916984G>A	uc002pwo.3	-	9	2025	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	SIGLEC10_uc002pwp.3_Silent_p.V543V|SIGLEC10_uc021uyl.1_Silent_p.V423V|SIGLEC10_uc002pwq.3_Silent_p.V448V|SIGLEC10_uc010ycz.2_Silent_p.V458V|SIGLEC10_uc002pws.2_Silent_p.V358V|SIGLEC10_uc002pwr.3_Silent_p.V506V|SIGLEC10_uc010ycy.2_Silent_p.V416V|SIGLEC10_uc010eow.3_Silent_p.V318V|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	601					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGCCGTCGGGACCACATTGA	0.537000														17			32		0	0	0.002445	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573051	44573051	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:44573051G>A	uc003tlb.3	-	7	2444	c.2388C>T	c.(2386-2388)tcC>tcT	p.S796S	NPC1L1_uc011kbw.2_Silent_p.S796S|NPC1L1_uc003tlc.3_Silent_p.S796S|NPC1L1_uc003tld.3_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	796	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGCTGTCCAGGGAGAGCAGGG	0.627000														22			10		0	0	0.008291	0	0
OR8K3	219473	broad.mit.edu	37	11	56086623	56086623	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:56086623A>C	uc010rjf.2	+	0	841	c.841A>C	c.(841-843)Atc>Ctc	p.I281L		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CACCCTGGTTATCCCCATGTT	0.368000														29			5		0	0	0.001168	0	0
MYOM2	9172	broad.mit.edu	37	8	2057237	2057237	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:2057237T>G	uc003wpx.4	+	24	3233	c.3095T>G	c.(3094-3096)gTt>gGt	p.V1032G	MYOM2_uc011kwi.2_Missense_Mutation_p.V457G	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1032					muscle contraction	myosin filament	structural constituent of muscle	p.R1031R(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGGGGCGGGTTCGCTTCTGG	0.443000														34			21		0	0	0.002780	0	0
PCDH15	65217	broad.mit.edu	37	10	55591205	55591205	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:55591205C>G	uc010qhy.1	-	30	4482	c.4087G>C	c.(4087-4089)Gag>Cag	p.E1363Q	PCDH15_uc010qhq.2_Missense_Mutation_p.E1363Q|PCDH15_uc010qhr.2_Missense_Mutation_p.E1358Q|PCDH15_uc021pqv.1_Missense_Mutation_p.E1358Q|PCDH15_uc021pqw.1_Missense_Mutation_p.E1370Q|PCDH15_uc010qht.2_Missense_Mutation_p.E1365Q|PCDH15_uc021pqx.1_Missense_Mutation_p.E1358Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1358Q|PCDH15_uc021pqz.1_Missense_Mutation_p.E1336Q|PCDH15_uc010qhv.1_Missense_Mutation_p.E1358Q|PCDH15_uc010qhw.1_Missense_Mutation_p.E1321Q|PCDH15_uc010qhx.1_Missense_Mutation_p.E1287Q|PCDH15_uc010qhz.1_Missense_Mutation_p.E1358Q|PCDH15_uc010qia.1_Missense_Mutation_p.E1336Q|PCDH15_uc001jju.1_Missense_Mutation_p.E1358Q|PCDH15_uc010qib.1_Missense_Mutation_p.E1336Q	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1358					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCACTGCCTCTGGAGTCCGG	0.458000										HNSCC(58;0.16)				28			28		0	0	0.006320	0	0
CHD7	55636	broad.mit.edu	37	8	61693655	61693655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:61693655C>T	uc003xue.3	+	2	2254	c.1762C>T	c.(1762-1764)Cca>Tca	p.P588S	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	588					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.556_871dup(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGATTACCTGCCATCAATAGA	0.453000														16			5		0	0	0.000602	0	0
ZNF709	163051	broad.mit.edu	37	19	12575099	12575099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:12575099G>A	uc002mtv.4	-	3	1798	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	ZNF709_uc002mtw.4_Missense_Mutation_p.S514F|ZNF709_uc002mtx.4_Missense_Mutation_p.S546F	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TATTCGAATGGAACTGGAACA	0.418000														57			55		0	0	0.003610	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391512	139391512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:139391512G>A	uc004chz.3	-	33	6679	c.6679C>T	c.(6679-6681)Ccg>Tcg	p.P2227S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2227					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of 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.S2163_T2283del(2)|p.K2182fs*61(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCACGGACGGAGACTGCTGG	0.701000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				21			7		0	0	0.003080	0	0
TJP1	7082	broad.mit.edu	37	15	30058537	30058537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:30058537C>T	uc001zcr.3	-	4	996	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	TJP1_uc010azl.3_Missense_Mutation_p.R162Q|TJP1_uc001zcq.3_Missense_Mutation_p.R178Q|TJP1_uc001zcs.3_Missense_Mutation_p.R174Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	174					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGCCACTGACCGCCTGTCTGA	0.507000														70			19		0	0	0.001523	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37494479	37494479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:37494479C>T	uc003aqt.1	-	2	375	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.E114K|TMPRSS6_uc003aqu.3_Missense_Mutation_p.E105K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	114					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTGGCGGTTTCACTGCGGAAG	0.567000														119			114		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106963163	106963163	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106963163G>A	uc021ser.1	-	268		c.10567C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAAACCTTCAC	0.577000														43			12		0	0	0.001368	0	0
NCR1	9437	broad.mit.edu	37	19	55423586	55423586	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:55423586G>A	uc002qib.2	+	6	771	c.733_splice	c.e6+1	p.D245_splice	NCR1_uc002qic.2_Splice_Site_p.D244_splice|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Splice_Site_p.D150_splice|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Splice_Site_p.D138_splice	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	245					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACTCCAGAAAGGTAAGTAGAC	0.517000														34			14		0	0	0.004007	0	0
PAK7	57144	broad.mit.edu	37	20	9538296	9538296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:9538296C>T	uc002wnl.2	-	7	2247	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	PAK7_uc002wnk.2_Missense_Mutation_p.D568N|PAK7_uc002wnj.2_Missense_Mutation_p.D568N|PAK7_uc010gby.1_Missense_Mutation_p.D568N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	568	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTTTTTATGTCCCTGTGAATC	0.458000														25			32		0	0	0.002836	0	0
RAVER1	125950	broad.mit.edu	37	19	10433941	10433941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10433941G>A	uc002moa.3	-	4	1089	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	320	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCTTCCCCCGATTGAGGGCC	0.672000														13			10		0	0	0.008291	0	0
DPP6	1804	broad.mit.edu	37	7	154172103	154172103	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:154172103C>T	uc003wlk.3	+	2	567	c.438C>T	c.(436-438)ccC>ccT	p.P146P	DPP6_uc003wli.3_Silent_p.P82P|DPP6_uc003wlj.3_Silent_p.P146P|DPP6_uc010lqh.1_Silent_p.P84P|DPP6_uc003wlm.3_Silent_p.P84P|DPP6_uc011kvq.2_Silent_p.P84P	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	146					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.P146P(2)|p.P84P(1)|p.P82P(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTCATGACCCCGAGGCTAAGT	0.433000														48			25		0	0	0.005443	0	0
DRD1	1812	broad.mit.edu	37	5	174868954	174868954	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:174868954C>T	uc003mcz.3	-	1	2094	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	DRD1_uc021yia.1_Silent_p.K383K	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	383					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GATTGCACTCCTTGGAGATGG	0.537000														23			43		0	0	0.002222	0	0
ATP10A	57194	broad.mit.edu	37	15	25924899	25924899	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:25924899G>A	uc010ayu.3	-	20	4195	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1363					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGCCTCCAGGGAGCAGACCG	0.657000														27			18		0	0	0.008871	0	0
ARID1B	57492	broad.mit.edu	37	6	157528639	157528639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:157528639C>T	uc003qqp.3	+	18	6325	c.6325C>T	c.(6325-6327)Cgc>Tgc	p.R2109C	ARID1B_uc003qqo.3_Missense_Mutation_p.R2122C|ARID1B_uc003qqn.3_Missense_Mutation_p.R2162C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	2109					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGTTGGGGATCGCAAAAACCC	0.488000														121			82		0	0	0.003610	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770324	31770324	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:31770324G>A	uc002nsy.4	-	1	440	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	125					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGTTGGAGAGGAAGTTGTTGT	0.567000														21			17		0	0	0.004990	0	0
FAM5C	339479	broad.mit.edu	37	1	190195314	190195314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:190195314G>A	uc001gse.1	-	5	1091	c.859C>T	c.(859-861)Cca>Tca	p.P287S	FAM5C_uc010pot.1_Missense_Mutation_p.P185S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	287						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGCATTCTGGAAATTTGGGA	0.438000														47			16		0	0	0.001523	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589625	11589625	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:11589625C>T	uc001ash.4	+	13	2949	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	937					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCTGTACTTCGCCCAGTCCC	0.652000														22			15		0	0	0.001523	0	0
HRNR	388697	broad.mit.edu	37	1	152192069	152192069	+	Missense_Mutation	SNP	C	T	T	rs140281819		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152192069C>T	uc001ezt.1	-	2	2112	c.2036G>A	c.(2035-2037)gGg>gAg	p.G679E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	679					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)			GGAGCCAGACCCATGTTGGCC	0.592000														76			78		0	0	0.003610	0	0
OR10P1	121130	broad.mit.edu	37	12	56030906	56030906	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:56030906C>T	uc010spq.2	+	0	231	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I77I(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CCACTGACATCGTGCCCAGGA	0.592000														10			26		0	0	0.003954	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635724	141635724	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:141635724G>A	uc003vwv.1	-	4	432	c.235C>T	c.(235-237)Caa>Taa	p.Q79*	CLEC5A_uc011krm.1_Nonsense_Mutation_p.Q56*|CLEC5A_uc003vww.1_Nonsense_Mutation_p.Q79*|CLEC5A_uc010lnq.1_Nonsense_Mutation_p.Q56*|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	79	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					CATCTTGCTTGATAAAATTCC	0.413000														37			15		0	0	0.002450	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726392	67726392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:67726392C>T	uc009xpn.1	-	16	2501	c.2378G>A	c.(2377-2379)gGa>gAa	p.G793E	CTNNA3_uc001jmw.2_Missense_Mutation_p.G793E	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	793					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GAGCTCTCCTCCCAGGTTCTG	0.448000														49			12		0	0	0.003163	0	0
SEL1L3	23231	broad.mit.edu	37	4	25836876	25836876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:25836876G>A	uc003gru.4	-	2	955	c.803C>T	c.(802-804)cCg>cTg	p.P268L		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	268						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCGAAACCTCGGGAACTTCTT	0.532000														62			48		0	0	0.003610	0	0
MORC3	23515	broad.mit.edu	37	21	37736479	37736479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:37736479C>T	uc002yvi.3	+	13	1617	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	514					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGACATCTTTCAGAAGGAACA	0.413000														19			13		0	0	0.001368	0	0
MUC17	140453	broad.mit.edu	37	7	100686845	100686845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100686845G>A	uc003uxp.1	+	2	12201	c.12148G>A	c.(12148-12150)Gaa>Aaa	p.E4050K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4050						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTCATCAGAATCCAGCAG	0.532000														47			45		0	0	0.002522	0	0
P2RY10	27334	broad.mit.edu	37	X	78216644	78216644	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:78216644C>T	uc022bzl.1	+	0	627	c.627C>T	c.(625-627)atC>atT	p.I209I	P2RY10_uc004ede.3_Silent_p.I209I|P2RY10_uc004edf.3_Silent_p.I209I	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	209						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GATTTGTGATCCCAGTGATCA	0.468000														19			20		0	0	0.002299	0	0
ZNF639	51193	broad.mit.edu	37	3	179051056	179051056	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:179051056G>A	uc003fjr.1	+	7	750	c.305_splice	c.e7-1	p.E102_splice	ZNF639_uc003fjq.1_Splice_Site_p.E102_splice	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	102					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTATTCTTCAGAAAAATCTGC	0.318000														10			7		0	0	0.001984	0	0
CR1L	1379	broad.mit.edu	37	1	207890877	207890877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:207890877C>T	uc001hga.4	+	10	1604	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	495	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGAGATATTCCCTATGGAAA	0.458000														76			27		0	0	0.006320	0	0
C4orf17	84103	broad.mit.edu	37	4	100460382	100460382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:100460382C>T	uc003huw.3	+	6	1053	c.691C>T	c.(691-693)Cac>Tac	p.H231Y	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	231										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GTTAACTCATCACAGAAGAAA	0.443000														68			69		0	0	0.003610	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455305	70455305	+	Nonsense_Mutation	SNP	G	A	A	rs139303872	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:70455305G>A	uc011caq.2	-	6	1983	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*	UGT2A1_uc010ihu.3_Nonsense_Mutation_p.R457*|UGT2A1_uc003hem.4_Nonsense_Mutation_p.R457*|UGT2A1_uc010ihs.3_Nonsense_Mutation_p.R466*|UGT2A1_uc021xox.1_Nonsense_Mutation_p.R422*|UGT2A1_uc010iht.3_Nonsense_Mutation_p.R413*	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.R457*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGACTGCTCGATCCAGGGGC	0.448000														97			29		0	0	0.006320	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595634	31595634	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:31595634C>T	uc003nvb.4	+	11	1632	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.S461S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	461	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTGAGATTTCCCTGGCAGTGG	0.627000														18			34		0	0	0.006230	0	0
TRIM35	23087	broad.mit.edu	37	8	27145561	27145562	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27145561_27145562GG>AA	uc003xfl.1	-	5	1069_1070	c.987_988CC>TT	c.(985-990)taccgc>taTTgc	p.R330C	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	330	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACCTGCACGCGGTAGCCATGGT	0.653000														21			14		0	0	0.004672	0	0
DCX	1641	broad.mit.edu	37	X	110644262	110644262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:110644262C>T	uc004epd.3	-	2	1076	c.904G>A	c.(904-906)Gag>Aag	p.E302K	DCX_uc011msv.2_Missense_Mutation_p.E302K|DCX_uc004epe.3_Missense_Mutation_p.E221K|DCX_uc004epf.3_Missense_Mutation_p.E221K|DCX_uc004epg.3_Missense_Mutation_p.E221K	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	302	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACCCCGGTCTCCAGTTTGATG	0.443000														2			62		0	0	0.003610	0	0
AGTR2	186	broad.mit.edu	37	X	115304028	115304028	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:115304028C>T	uc022cdd.1	+	0	495	c.495C>T	c.(493-495)ccC>ccT	p.P165P	AGTR2_uc004eqh.4_Silent_p.P165P	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	165					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.P165S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ATATAGTTCCCCTTGTTTGGT	0.398000														59			41		0	0	0.002522	0	0
FBXO15	201456	broad.mit.edu	37	18	71740886	71740886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:71740886C>T	uc002llf.2	-	9	1423	c.1343G>A	c.(1342-1344)aGa>aAa	p.R448K	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.R372K	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	372										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGCAGGCGATCTCAGGCACAC	0.502000														75			33		0	0	0.002836	0	0
NES	10763	broad.mit.edu	37	1	156642501	156642501	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156642501G>A	uc001fpq.3	-	3	1612	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	493	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCCTCGGCATATGCTGA	0.537000														57			60		0	0	0.003610	0	0
CXCR4	7852	broad.mit.edu	37	2	136873224	136873224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:136873224G>A	uc002tuz.3	-	1	369	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	CXCR4_uc002tuy.3_Missense_Mutation_p.P96S|CXCR4_uc010fnk.3_Missense_Mutation_p.P77S	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	92					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GCCCAGAAGGGAAGCGTGATG	0.522000														33			16		0	0	0.003163	0	0
SORL1	6653	broad.mit.edu	37	11	121428100	121428100	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:121428100C>T	uc001pxx.3	+	18	2778	c.2649C>T	c.(2647-2649)ctC>ctT	p.L883L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	883					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCTGGTCCTCGTGCCCCAAG	0.493000														19			16		0	0	0.006122	0	0
KHDC1	80759	broad.mit.edu	37	6	73951846	73951846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:73951846C>T	uc003pgo.3	-	3	947	c.446G>A	c.(445-447)aGg>aAg	p.R149K	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Missense_Mutation_p.R76K	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	149	KH; atypical.					integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						CTGCCTTGCCCTGTGTGGTCC	0.532000														14			9		0	0	0.006214	0	0
IPPK	64768	broad.mit.edu	37	9	95400522	95400522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:95400522G>A	uc004asl.1	-	8	954	c.677C>T	c.(676-678)cCc>cTc	p.P226L	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	226					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GTCAGCCACGGGGCTCCGGGC	0.557000														36			13		0	0	0.002450	0	0
SLC25A31	83447	broad.mit.edu	37	4	128685486	128685486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:128685486G>A	uc003ifl.3	+	2	595	c.449G>A	c.(448-450)cGa>cAa	p.R150Q		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	150					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.R150Q(2)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GATTTTGCCCGAACCCGATTA	0.388000														26			37		0	0	0.006230	0	0
CR1	1378	broad.mit.edu	37	1	207741343	207741343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:207741343G>A	uc001hfy.3	+	16	2917	c.2777G>A	c.(2776-2778)gGg>gAg	p.G926E	CR1_uc009xcl.1_Missense_Mutation_p.G476E|CR1_uc001hfx.3_Missense_Mutation_p.G1376E|CR1_uc021pij.1_Missense_Mutation_p.G926E|CR1_uc009xck.1_Missense_Mutation_p.G476E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	926	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACCCTCAAGGGAATGGGGTT	0.547000														38			26		0	0	0.004289	0	0
SLC3A1	6519	broad.mit.edu	37	2	44540973	44540973	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:44540973G>A	uc002ruc.4	+	9	1579	c.1501_splice	c.e9-1	p.N501_splice	SLC3A1_uc002rua.3_Splice_Site_p.N501_splice|SLC3A1_uc002rub.2_Splice_Site_p.N501_splice|SLC3A1_uc002rud.4_Splice_Site_p.N223_splice|SLC3A1_uc002rue.4_Splice_Site_p.N121_splice	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	501					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTTGACATAGAATACCCTTC	0.378000														29			8		0	0	0.004482	0	0
PIM1	5292	broad.mit.edu	37	6	37140845	37140845	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:37140845C>T	uc003onk.3	+	4	1111	c.681C>T	c.(679-681)tcC>tcT	p.S227S	PIM1_uc011dtw.2_Missense_Mutation_p.P96L	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	318	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGTCTGGTCCCTGGGGATCC	0.542000			T	BCL6	NHL									67			27		0	0	0.003954	0	0
TPST1	8460	broad.mit.edu	37	7	65706081	65706081	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:65706081T>A	uc003tuw.3	+	1	1021	c.669T>A	c.(667-669)taT>taA	p.Y223*	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	223					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGACCATGTATAACCAGTGTA	0.383000														22			16		0	0	0.003163	0	0
TEX15	56154	broad.mit.edu	37	8	30699662	30699662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:30699662G>A	uc003xil.3	-	0	6872	c.6872C>T	c.(6871-6873)tCt>tTt	p.S2291F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2291										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAACATCGTAGAAATACTAAA	0.338000														38			9		0	0	0.004482	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914848	54914848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:54914848C>T	uc003dhf.3	+	20	1918	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.H530Y|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.H358Y|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	624						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTCCAGAGGTCATGGGAAATA	0.463000														168			47		0	0	0.003610	0	0
OR2C3	81472	broad.mit.edu	37	1	247695323	247695323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247695323G>A	uc021pmb.1	-	0	491	c.491C>T	c.(490-492)aCc>aTc	p.T164I	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.T164I	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGAGCATGGTGAGCGTGGA	0.547000														10			12		0	0	0.001368	0	0
TP63	8626	broad.mit.edu	37	3	189612028	189612028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:189612028C>T	uc003fry.2	+	13	1869	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Nonsense_Mutation_p.R500*|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Nonsense_Mutation_p.R415*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	594	SAM.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R594*(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAGCAATTTCGACATGCGAT	0.532000										HNSCC(45;0.13)				18			25		0	0	0.003954	0	0
ACSM5	54988	broad.mit.edu	37	16	20422863	20422863	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:20422863C>T	uc002dhe.3	+	1	204	c.57C>T	c.(55-57)ttC>ttT	p.F19F	ACSM5_uc002dhd.1_Silent_p.F19F	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	19					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAGGGCATTCTGTGGGTCTC	0.572000														19			17		0	0	0.006122	0	0
ZNF334	55713	broad.mit.edu	37	20	45131127	45131127	+	Missense_Mutation	SNP	C	T	T	rs138146245	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:45131127C>T	uc002xsa.3	-	3	1382	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	ZNF334_uc002xsb.3_Missense_Mutation_p.R246Q|ZNF334_uc002xsd.3_Missense_Mutation_p.R246Q|ZNF334_uc002xsc.3_Missense_Mutation_p.R284Q|ZNF334_uc010ghl.3_Missense_Mutation_p.R283Q			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGAATTCTTCGGTGTCGAGT	0.423000														55			25		0	0	0.004656	0	0
F13B	2165	broad.mit.edu	37	1	197029561	197029561	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:197029561A>G	uc001gtt.1	-	4	784	c.740T>C	c.(739-741)cTa>cCa	p.L247P		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	247	Sushi 4.				blood coagulation	extracellular region		p.Y246D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGATCCACTTAGATAATAATT	0.308000														53			56		0	0	0.003610	0	0
STK36	27148	broad.mit.edu	37	2	219564066	219564066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219564066C>T	uc002viu.3	+	25	4078	c.3799C>T	c.(3799-3801)Cat>Tat	p.H1267Y	STK36_uc002viv.3_Missense_Mutation_p.H1246Y|STK36_uc002vix.3_Missense_Mutation_p.H312Y	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	1267					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.H1267R(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCCTGGCATCCATCAGGTATA	0.527000														33			15		0	0	0.004007	0	0
OR2F1	26211	broad.mit.edu	37	7	143657855	143657855	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143657855C>T	uc003wds.1	+	0	836	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGCCCCACTCCAGTCCCTCTG	0.473000														46			12		0	0	0.001368	0	0
COL24A1	255631	broad.mit.edu	37	1	86200455	86200455	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:86200455T>A	uc001dlj.3	-	58	5050	c.4975A>T	c.(4975-4977)Aaa>Taa	p.K1659*	COL24A1_uc001dli.3_Nonsense_Mutation_p.K774*|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Nonsense_Mutation_p.K959*|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1659	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAAAGCACTTTAGGTTCAAGT	0.363000														65			26		0	0	0.007291	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868621	112868621	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112868621T>G	uc003kqn.3	+	4	923	c.721T>G	c.(721-723)Tgc>Ggc	p.C241G	YTHDC2_uc010jce.2_Missense_Mutation_p.C241G|YTHDC2_uc010jcf.2_5'UTR	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	241	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGTATCCCCTGCCGTATATT	0.378000														23			35		0	0	0.008740	0	0
CYYR1	116159	broad.mit.edu	37	21	27840827	27840827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:27840827C>T	uc002yme.3	-	3	783	c.461G>A	c.(460-462)aGg>aAg	p.R154K	CYYR1_uc002ymd.3_Missense_Mutation_p.R153K|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	153						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AGATTATTTCCTTGCGTTTCC	0.512000														22			29		0	0	0.001786	0	0
RUVBL2	10856	broad.mit.edu	37	19	49502594	49502594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:49502594C>T	uc002plr.1	+	1	44	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RUVBL2_uc010yab.2_Missense_Mutation_p.P11S|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_5'UTR	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	11					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AACCAAAGTCCCGGAGATCCG	0.552000														51			16		0	0	0.001523	0	0
ZNF512	84450	broad.mit.edu	37	2	27821046	27821046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:27821046C>T	uc002rla.3	+	2	289	c.202C>T	c.(202-204)Cca>Tca	p.P68S	ZNF512_uc010ylw.2_Missense_Mutation_p.P67S|ZNF512_uc002rlb.3_5'UTR|ZNF512_uc010ylx.2_5'UTR|ZNF512_uc002rlc.3_5'UTR|ZNF512_uc010ylv.2_5'UTR|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_5'UTR	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAGTGATTTTCCAGCATCTTT	0.418000														18			49		0	0	0.003610	0	0
FAM179B	23116	broad.mit.edu	37	14	45537771	45537771	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:45537771A>T	uc001wvw.3	+	17	5103	c.4894A>T	c.(4894-4896)Aac>Tac	p.N1632Y	FAM179B_uc001wvv.3_Missense_Mutation_p.N1579Y|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1579							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATAGTGGATAACAATCTGAA	0.408000														31			25		0	0	0.004656	0	0
DNAH8	1769	broad.mit.edu	37	6	38831663	38831663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:38831663G>A	uc021yzh.1	+	44	6434	c.6325G>A	c.(6325-6327)Ggt>Agt	p.G2109S	DNAH8_uc003ooe.2_Missense_Mutation_p.G1892S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCACAGTCGGGTTCCTGGGG	0.363000														33			57		0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	123996969	123996969	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123996969C>T	uc001lfv.3	+	16	8547	c.8187C>T	c.(8185-8187)atC>atT	p.I2729I	TACC2_uc001lfw.3_Silent_p.I875I|TACC2_uc009xzx.3_Silent_p.I2607I|TACC2_uc010qtv.2_Silent_p.I2656I|TACC2_uc001lfx.3_Silent_p.I356I|TACC2_uc001lfy.3_Silent_p.I352I|TACC2_uc001lfz.3_Silent_p.I807I|TACC2_uc001lga.3_Silent_p.I777I|TACC2_uc009xzy.3_Silent_p.I789I|TACC2_uc001lgb.3_Silent_p.I687I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2729						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)				ACTCCCGCATCGGGACCGCTG	0.527000														20			20		0	0	0.008871	0	0
PLCG2	5336	broad.mit.edu	37	16	81962178	81962178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:81962178C>T	uc002fgt.3	+	23	2708	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	844					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGAAGACAATCCCTTAGGGTC	0.428000														33			38		0	0	0.002222	0	0
C18orf54	162681	broad.mit.edu	37	18	51888050	51888050	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:51888050C>T	uc002lfo.4	+	1	367	c.321C>T	c.(319-321)ttC>ttT	p.F107F	C18orf54_uc002lfn.4_Silent_p.F107F	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	107						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ACTCAAACTTCATATCCTGTA	0.323000														17			8		0	0	0.003080	0	0
HTR1A	3350	broad.mit.edu	37	5	63256820	63256820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:63256820C>T	uc011cqt.2	-	0	727	c.727G>A	c.(727-729)Gga>Aga	p.G243R		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	243					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGAGATGCTCCATGGCGGGTG	0.627000														15			19		0	0	0.005443	0	0
VPS13D	55187	broad.mit.edu	37	1	12353750	12353750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:12353750G>A	uc001atv.3	+	23	6163	c.6022G>A	c.(6022-6024)Gag>Aag	p.E2008K	VPS13D_uc001atw.3_Missense_Mutation_p.E2008K|VPS13D_uc001atx.3_Missense_Mutation_p.E1196K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2008					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTGCTATTGAGGGGCAGAC	0.517000														22			8		0	0	0.003080	0	0
ASPM	259266	broad.mit.edu	37	1	197099171	197099171	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:197099171G>T	uc001gtu.3	-	7	2760	c.2503C>A	c.(2503-2505)Ctc>Atc	p.L835I	ASPM_uc001gtv.3_Missense_Mutation_p.L835I|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	835					mitosis	cytoplasm|nucleus	calmodulin binding	p.E834*(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAGATATGAGTTCTCCATAA	0.388000														34			28		3.65163e-15	5.05287e-15	0.006320	1	0
CSMD2	114784	broad.mit.edu	37	1	34238196	34238196	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:34238196C>T	uc001bxm.1	-	12	1997	c.1820G>A	c.(1819-1821)tGg>tAg	p.W607*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.W567*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	567	CUB 4.					integral to membrane|plasma membrane	protein binding	p.W567*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTAGCCGACCATTGGTTATT	0.577000														42			20		0	0	0.002780	0	0
SAP130	79595	broad.mit.edu	37	2	128757395	128757395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:128757395G>A	uc010fmd.2	-	9	1343	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	SAP130_uc002tpn.2_Missense_Mutation_p.P165L|SAP130_uc002tpp.2_Missense_Mutation_p.P404L|SAP130_uc002tpq.1_Missense_Mutation_p.P377L	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	404					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGTACTTGTGGGAGCTTGCGT	0.473000														22			46		0	0	0.003610	0	0
DNAJB8	165721	broad.mit.edu	37	3	128182073	128182073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:128182073C>T	uc003ekk.1	-	2	1677	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.E6K	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	6	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CCCAGCACTTCGTAGTAGTTA	0.627000														52			18		0	0	0.001882	0	0
KCNK15	60598	broad.mit.edu	37	20	43378776	43378776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:43378776G>A	uc002xmr.3	+	1	354	c.290G>A	c.(289-291)gGc>gAc	p.G97D		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	97						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				ATAGAGTACGGCCACGCCGCG	0.687000														8			3		0	0	0.000248	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413025	19413025	+	RNA	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:19413025A>G	uc010tcj.1	-	0		c.33085T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAACCTGCACATCCATGCA	0.299000														37			4		0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179585319	179585319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179585319C>T	uc021vsy.1	-	76	19663	c.19438G>A	c.(19438-19440)Gaa>Aaa	p.E6480K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3141K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7407	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6479S(1)|p.E6480K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCGAAATTTCACATTGGAGA	0.388000														15			7		0	0	0.003080	0	0
TATDN2	9797	broad.mit.edu	37	3	10311828	10311828	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:10311828A>G	uc011atr.2	+	3	1543	c.962A>G	c.(961-963)gAg>gGg	p.E321G	TATDN2_uc003bvg.2_Missense_Mutation_p.E321G|TATDN2_uc003bvf.3_Missense_Mutation_p.E321G|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	321						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AAAGATAGGGAGGTGGTGATG	0.507000														62			13		0	0	0.001855	0	0
NLRP13	126204	broad.mit.edu	37	19	56423175	56423175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:56423175C>T	uc010ygg.2	-	4	2033	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	670							ATP binding	p.E670*(2)|p.E669K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTTGGAGTTCTTCGTCCTCC	0.408000														47			25		0	0	0.003330	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539563	48539563	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:48539563C>T	uc001zwn.4	+	12	1806	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	SLC12A1_uc010uew.1_Silent_p.A336A|SLC12A1_uc010bem.3_Silent_p.A530A|SLC12A1_uc001zwq.4_Silent_p.A301A|SLC12A1_uc001zwr.4_Silent_p.A257A	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	530					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCTACAAAGCCCTGCAGTTTT	0.368000														35			25		0	0	0.002096	0	0
LY9	4063	broad.mit.edu	37	1	160783507	160783507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160783507C>T	uc001fwu.3	+	2	586	c.536C>T	c.(535-537)tCc>tTc	p.S179F	LY9_uc010pjs.1_Missense_Mutation_p.S179F|LY9_uc001fwv.3_Missense_Mutation_p.S179F|LY9_uc001fww.3_Missense_Mutation_p.S179F|LY9_uc001fwy.1_Missense_Mutation_p.S81F|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	179	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTAATGTGCTCCGTGAAGGGG	0.532000														36			29		0	0	0.007291	0	0
THRAP3	9967	broad.mit.edu	37	1	36748237	36748237	+	Missense_Mutation	SNP	C	T	T	rs147227162	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:36748237C>T	uc001cae.4	+	2	297	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	THRAP3_uc001caf.4_Missense_Mutation_p.R25C|THRAP3_uc001cag.1_Missense_Mutation_p.R25C	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	25	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCTCGTTCTCGTTCATTTTC	0.443000			T	USP6	aneurysmal bone cysts									16			20		0	0	0.008871	0	0
CDH24	64403	broad.mit.edu	37	14	23517611	23517611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:23517611C>T	uc001wil.3	-	12	2298	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	CDH24_uc010akf.3_Missense_Mutation_p.E642K	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	680					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ATGATGTTCTCTCGGACGTCC	0.682000														58			11		0	0	0.001368	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742376	10742376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10742376G>A	uc002mpf.3	+	7	716	c.577G>A	c.(577-579)Gat>Aat	p.D193N	SLC44A2_uc002mpe.4_Missense_Mutation_p.D191N	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GACCTATGAGGATGGGCATGG	0.607000														15			11		0	0	0.001855	0	0
TRRAP	8295	broad.mit.edu	37	7	98606073	98606073	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:98606073G>A	uc003upp.3	+	68	10994	c.10785G>A	c.(10783-10785)gaG>gaA	p.E3595E	TRRAP_uc011kis.2_Silent_p.E3566E|TRRAP_uc003upr.3_Silent_p.E3301E	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3595	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCTTGTGGAGATCTACAAGC	0.612000														51			35		0	0	0.003755	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912776	94912776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94912776C>T	uc001ydd.1	-	2	869	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	270					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAAGGCATTTCCTCTGTATTC	0.542000														47			20		0	0	0.001523	0	0
APOA5	116519	broad.mit.edu	37	11	116661143	116661143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:116661143C>T	uc009yzg.3	-	1	1312	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.E268K|APOA5_uc009yzf.3_Missense_Mutation_p.E268K			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	268					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCGGCCCCTTCCTCAGTCCCA	0.652000														3			64		0	0	0.003610	0	0
EXTL3	2137	broad.mit.edu	37	8	28573590	28573590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:28573590C>T	uc003xgz.1	+	2	607	c.14C>T	c.(13-15)aCc>aTc	p.T5I		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	5						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACAGGCTATACCATGCTGCGG	0.592000														26			15		0	0	0.006122	0	0
GFRAL	389400	broad.mit.edu	37	6	55196546	55196546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55196546C>T	uc003pcm.1	+	1	142	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	19						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAATACACTTCCCAAACCAAT	0.343000														24			25		0	0	0.004656	0	0
ADAM18	8749	broad.mit.edu	37	8	39581281	39581281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:39581281G>A	uc003xni.3	+	18	2087	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E654K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	678					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTTTTATACTGAAAAAGGCTA	0.299000														45			50		0	0	0.003610	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680180	67680180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:67680180C>T	uc009xpn.1	-	17	2719	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E866K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	866					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCACACGTTTCCTCTGGCTTC	0.468000														46			37		0	0	0.004878	0	0
PRDM14	63978	broad.mit.edu	37	8	70980555	70980555	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:70980555G>A	uc003xym.3	-	3	1024	c.822C>T	c.(820-822)atC>atT	p.I274I		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	274	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCCTTTGGCGATAAAACTAC	0.478000														49			15		0	0	0.003163	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304957	20304957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:20304957C>T	uc001bcu.3	-	2	319	c.101G>A	c.(100-102)gGa>gAa	p.G34E	PLA2G2A_uc001bcv.3_Missense_Mutation_p.G34E|PLA2G2A_uc010oda.2_Missense_Mutation_p.G34E|PLA2G2A_uc010odb.2_Missense_Mutation_p.G34E	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA.	34					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCCTTTCCTGTCGTCAA	0.552000														22			10		0	0	0.001368	0	0
PRMT5	10419	broad.mit.edu	37	14	23395485	23395486	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:23395485_23395486GG>AA	uc001whm.1	-	6	724_725	c.633_634CC>TT	c.(631-636)gacctc>gaTTtc	p.L212F	PRMT5_uc001whl.1_Missense_Mutation_p.L195F|PRMT5_uc010tnf.1_Missense_Mutation_p.L106F|PRMT5_uc010tnh.1_Missense_Mutation_p.L168F|PRMT5_uc010tng.1_Missense_Mutation_p.L151F|PRMT5_uc001whn.1_Intron	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	212					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTAGATGGGAGGTCAGCCCCAA	0.470000														48			34		0	0	0.004672	0	0
LIFR	3977	broad.mit.edu	37	5	38504110	38504110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:38504110C>T	uc010ive.1	-	9	1737	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	LIFR_uc003jli.2_Missense_Mutation_p.E469K	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	469	Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTCTTAATTTCAATTTCACAT	0.289000			T	PLAG1	salivary adenoma									69			22		0	0	0.001882	0	0
ARID2	196528	broad.mit.edu	37	12	46246331	46246331	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:46246331C>T	uc001ros.1	+	14	4425	c.4425C>T	c.(4423-4425)acC>acT	p.T1475T	ARID2_uc001ror.3_Silent_p.T1475T|ARID2_uc009zkg.1_Silent_p.T931T|ARID2_uc009zkh.1_Silent_p.T1102T|ARID2_uc001rou.1_Silent_p.T809T	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1475					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTCTACAACCTCTGTTATAC	0.443000			"""N, S, F"""		hepatocellular carcinoma									46			20		0	0	0.001523	0	0
ACAN	176	broad.mit.edu	37	15	89402194	89402194	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:89402194C>T	uc010upo.1	+	11	6752	c.6378C>T	c.(6376-6378)tcC>tcT	p.S2126S	ACAN_uc010upp.1_Silent_p.S2126S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2126					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATTCTGGGTCCCCTGATCTGA	0.552000														32			8		0	0	0.003080	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150069	117150069	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:117150069G>A	uc003pxj.1	-	0	130	c.108C>T	c.(106-108)atC>atT	p.I36I	GPRC6A_uc003pxk.1_Silent_p.I36I|GPRC6A_uc003pxl.1_Silent_p.I36I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	36					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTCCAATTATGATATGTCCCG	0.428000														20			23		0	0	0.002780	0	0
KLF6	1316	broad.mit.edu	37	10	3822344	3822344	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:3822344G>A	uc001iha.3	-	2	1021	c.754C>T	c.(754-756)Cga>Tga	p.R252*	KLF6_uc010qaj.2_Intron|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Nonsense_Mutation_p.R210*	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	252					B cell differentiation	nucleus	zinc ion binding	p.R252*(2)|p.R252P(2)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GTGTGCTTTCGGAAGTGCCTG	0.542000														19			25		0	0	0.005443	0	0
KIT	3815	broad.mit.edu	37	4	55602768	55602768	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:55602768C>T	uc010igr.3	+	17	2676	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F	KIT_uc010igs.3_Silent_p.F859F	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	863	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.L862L(6)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGAGCTGTTCTCTTTAGGTA	0.418000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					40			53		0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766226	77766226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:77766226G>A	uc003yau.2	+	9	7456	c.7069G>A	c.(7069-7071)Gat>Aat	p.D2357N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2312N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2312	Pro-rich.					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)			GGATGCCACTGATCAAGTGGT	0.488000										HNSCC(33;0.089)				84			75		0	0	0.003610	0	0
DARC	2532	broad.mit.edu	37	1	159176192	159176192	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159176192C>T	uc001ftp.4	+	0	1144	c.969C>T	c.(967-969)ctC>ctT	p.L323L	DARC_uc001fto.3_Silent_p.L321L	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	321					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCTGCCCCTCCCTGAAGGAT	0.557000														182			57		0	0	0.003610	0	0
PARD6B	84612	broad.mit.edu	37	20	49354422	49354422	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:49354422T>A	uc002xvo.3	+	1	338	c.95T>A	c.(94-96)cTg>cAg	p.L32Q		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	32	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CGGTTTTCGCTGGAAAGATCA	0.343000														31			28		0	0	0.007291	0	0
TARS2	80222	broad.mit.edu	37	1	150471388	150471388	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:150471388C>T	uc001euq.3	+	11	1424	c.1417C>T	c.(1417-1419)Caa>Taa	p.Q473*	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Nonsense_Mutation_p.Q391*|TARS2_uc009wlt.3_Nonsense_Mutation_p.Q99*|TARS2_uc009wls.3_Nonsense_Mutation_p.Q343*	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	473					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	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;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGCAGAGATCCAAAGCTGTCT	0.557000														46			31		0	0	0.002836	0	0
KIAA0564	23078	broad.mit.edu	37	13	42179406	42179406	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:42179406C>T	uc001uyj.3	-	39	4954	c.4884G>A	c.(4882-4884)aaG>aaA	p.K1628K		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1628						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTTGGATCTCCTTTAGCCTGA	0.423000														62			16		0	0	0.003163	0	0
SLC20A1	6574	broad.mit.edu	37	2	113405310	113405310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:113405310C>T	uc002tib.3	+	3	1095	c.556C>T	c.(556-558)Cat>Tat	p.H186Y		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	186					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ATTCATCCTCCATAAGGTAAC	0.433000														48			91		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106967498	106967498	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106967498C>T	uc021ser.1	-	263		c.10002G>A								Parts of antibodies, mostly variable regions.																		GAAGAACTTTCCTCTCAGAGG	0.488000														35			12		0	0	0.001368	0	0
C1orf63	57035	broad.mit.edu	37	1	25569092	25569092	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:25569092C>T	uc001bjw.3	-	4	1113	c.861G>A	c.(859-861)tgG>tgA	p.W287*	C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA.	287										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGATAGGTATCCACAGTCCAT	0.378000														45			19		0	0	0.001523	0	0
PTPRS	5802	broad.mit.edu	37	19	5219985	5219985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:5219985G>A	uc002mbv.3	-	21	3964	c.3730C>T	c.(3730-3732)Ctc>Ttc	p.L1244F	PTPRS_uc002mbu.1_Missense_Mutation_p.L813F|PTPRS_uc010xin.2_Missense_Mutation_p.L813F|PTPRS_uc002mbw.3_Missense_Mutation_p.L1222F|PTPRS_uc002mbx.3_Missense_Mutation_p.L817F|PTPRS_uc002mby.3_Missense_Mutation_p.L813F	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1244					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCACGAAGAGGACATAGCGG	0.612000														53			33		0	0	0.006230	0	0
GPR142	350383	broad.mit.edu	37	17	72368373	72368373	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72368373G>A	uc021ucp.1	+	3	1023	c.1014G>A	c.(1012-1014)cgG>cgA	p.R338R	GPR142_uc010wqy.2_Silent_p.R341R	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	341						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						ACCGGCTACGGAGGAGGGGCC	0.637000														25			5		0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235919	140235919	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140235919G>C	uc003lhx.2	+	0	286	c.286G>C	c.(286-288)Ggg>Cgg	p.G96R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.G96R|PCDHAC2_uc011dad.2_Missense_Mutation_p.G96R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	112	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGCGGGCGGAGCGT	0.562000														136			7		0	0	0.006214	0	0
GRID2	2895	broad.mit.edu	37	4	94436523	94436524	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:94436523_94436524GG>AA	uc011cdt.2	+	12	2412_2413	c.2154_2155GG>AA	c.(2152-2157)tcggag>tcAAag	p.E719K	GRID2_uc011cdu.2_Missense_Mutation_p.E624K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	719					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S718L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GCAATGGATCGGAGAACAATGT	0.475000														24			24		0	0	0.004672	0	0
KLRC4	8302	broad.mit.edu	37	12	10560975	10560975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:10560975C>T	uc001qye.3	-	2	475	c.293G>A	c.(292-294)gGa>gAa	p.G98E	KLRK1_uc001qyc.3_5'Flank|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	98					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CTCCAGTACTCCAATACCTAG	0.259000														34			9		0	0	0.000978	0	0
KLF17	128209	broad.mit.edu	37	1	44595442	44595442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:44595442C>T	uc001clp.3	+	1	557	c.499C>T	c.(499-501)Cca>Tca	p.P167S	KLF17_uc009vxf.1_Missense_Mutation_p.P130S	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	167					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P167L(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CACTGGAATCCCAATAATGTC	0.577000														18			9		0	0	0.004482	0	0
MADD	8567	broad.mit.edu	37	11	47315489	47315489	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:47315489C>T	uc001ner.1	+	21	3662	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S	MADD_uc001neq.2_Silent_p.S1119S|MADD_uc001nev.1_Silent_p.S1076S|MADD_uc001nes.1_Silent_p.S1096S|MADD_uc001net.1_Silent_p.S1139S|MADD_uc009yln.1_Silent_p.S1076S|MADD_uc001neu.1_Silent_p.S1076S|MADD_uc001nez.2_Silent_p.S1076S|MADD_uc001new.2_Silent_p.S1119S|MADD_uc001nex.2_Silent_p.S1157S|MADD_uc009ylo.3_Silent_p.S75S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1157	Ser-rich.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGAAAAAGTCCCAGATCAGCG	0.468000														1			13		0	0	0.003163	0	0
PCK1	5105	broad.mit.edu	37	20	56136498	56136498	+	Missense_Mutation	SNP	C	T	T	rs146652385		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:56136498C>T	uc002xyn.4	+	1	194	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	PCK1_uc010zzm.2_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	11					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CGGCCTGAACCTCTCGGCCAA	0.542000														54			34		0	0	0.002836	0	0
CDK14	5218	broad.mit.edu	37	7	90492554	90492554	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:90492554G>A	uc003uky.2	+	5	831	c.609G>A	c.(607-609)aaG>aaA	p.K203K	CDK14_uc003ukz.1_Silent_p.K185K|CDK14_uc010les.1_Silent_p.K157K|CDK14_uc011khl.1_Silent_p.K74K	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	203	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCCATACCAAGGAGACGCTGA	0.303000														47			37		0	0	0.002222	0	0
RPS18	6222	broad.mit.edu	37	6	33244018	33244018	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:33244018C>T	uc003odp.1	+	4	402	c.357C>T	c.(355-357)gcC>gcT	p.A119A	RPS18_uc010jum.1_Non-coding_Transcript|B3GALT4_uc003odr.3_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	Homo sapiens ribosomal protein S18 (RPS18), mRNA.	119					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AGATTCGGGCCCATAGAGGGC	0.562000														22			31		0	0	0.002836	0	0
OR5H1	26341	broad.mit.edu	37	3	97852023	97852023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:97852023G>A	uc011bgt.2	+	0	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATCCATGAAGGATTTTTATTC	0.353000														73			8		0	0	0.002780	0	0
FCRL1	115350	broad.mit.edu	37	1	157768028	157768028	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:157768028A>T	uc001frg.3	-	7	1150	c.1037T>A	c.(1036-1038)cTt>cAt	p.L346H	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.L346H|FCRL1_uc001fri.3_Missense_Mutation_p.L307H|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	346						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGGCTGGGAAGGCTCCTGCA	0.483000														22			12		0	0	0.001368	0	0
ACTR1B	10120	broad.mit.edu	37	2	98273645	98273645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:98273645G>A	uc002syb.2	-	9	1206	c.998C>T	c.(997-999)cCg>cTg	p.P333L		NM_005735	NP_005726	P42025	ACTY_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA.	333						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CCGTTCCTGCGGGGCTGAGAT	0.607000														12			7		0	0	0.006214	0	0
PAPOLG	64895	broad.mit.edu	37	2	61019308	61019308	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:61019308C>T	uc002sai.3	+	16	1812	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	PAPOLG_uc002saj.3_Silent_p.S210S|PAPOLG_uc002sak.3_Silent_p.S56S|PAPOLG_uc010fch.3_Silent_p.S210S	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	521					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GACTTCAATCCAAAAGATTGT	0.423000														30			13		0	0	0.003163	0	0
OR5B12	390191	broad.mit.edu	37	11	58207156	58207156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:58207156G>A	uc010rkh.2	-	0	491	c.469C>T	c.(469-471)Cat>Tat	p.H157Y		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCCCAGTATGAATGGATGCA	0.448000														25			37		0	0	0.008740	0	0
LRRC15	131578	broad.mit.edu	37	3	194080774	194080774	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:194080774G>A	uc003ftt.3	-	2	1142	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	LRRC15_uc003ftu.3_Silent_p.S333S|LRRC15_uc021xiy.1_Silent_p.S333S	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	333						integral to membrane		p.N338S(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCACCCGGGGAGATGAAGC	0.567000														14			9		0	0	0.008291	0	0
TOX2	84969	broad.mit.edu	37	20	42697299	42697299	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:42697299C>T	uc010ggo.3	+	8	1534	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	TOX2_uc002xle.4_Silent_p.P456P|TOX2_uc010ggp.3_Silent_p.P456P|TOX2_uc002xlf.4_Silent_p.P480P|TOX2_uc010zwk.2_Silent_p.P376P	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTGCTCCCCAGGGACAAAT	0.627000														15			11		0	0	0.001368	0	0
LYST	1130	broad.mit.edu	37	1	235827771	235827771	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:235827771A>C	uc001hxj.2	-	50	11364	c.11189T>G	c.(11188-11190)aTt>aGt	p.I3730S	LYST_uc001hxi.2_Missense_Mutation_p.I954S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3730					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTACCTTACAATTCCATTTTC	0.378000														36			6		0	0	0.001984	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274229	123274229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:123274229C>T	uc003ieh.3	+	78	14065	c.14020C>T	c.(14020-14022)Cgt>Tgt	p.R4674C	KIAA1109_uc003iem.3_Missense_Mutation_p.R1030C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4674					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAAATTTTCGTTCAAAATC	0.368000														65			17		0	0	0.004990	0	0
HOXA2	3199	broad.mit.edu	37	7	27140891	27140891	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:27140891C>T	uc003syh.3	-	1	860	c.585G>A	c.(583-585)agG>agA	p.R195R	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	195						nucleus	sequence-specific DNA binding transcription factor activity	p.R195S(2)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGTGCTTCATCCTCCGGTTCT	0.493000														37			11		0	0	0.000978	0	0
FCN1	2219	broad.mit.edu	37	9	137806247	137806247	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:137806247C>T	uc004cfi.3	-	3	380	c.291G>A	c.(289-291)ggG>ggA	p.G97G		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	97					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CTCCACGCATCCCCTTCTCTC	0.632000														19			31		0	0	0.001786	0	0
S100P	6286	broad.mit.edu	37	4	6695775	6695775	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:6695775A>C	uc003gjl.3	+	0	210	c.116A>C	c.(115-117)aAg>aCg	p.K39T		NM_005980	NP_005971	P25815	S100P_HUMAN	Homo sapiens S100 calcium binding protein P (S100P), mRNA.	39	EF-hand 1.				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CTGATGGAGAAGGAGCTACCA	0.632000														10			9		0	0	0.008291	0	0
ERC2	26059	broad.mit.edu	37	3	56026215	56026215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:56026215C>T	uc021wzo.1	-	9	2265	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	ERC2_uc003dhr.1_Missense_Mutation_p.D709N|ERC2_uc003dht.1_Missense_Mutation_p.D192N	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	709						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)		GCCTCTTTATCGAGCTGTTTT	0.448000														112			98		0	0	0.003610	0	0
NF1	4763	broad.mit.edu	37	17	29683977	29683977	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:29683977G>A	uc002hgg.3	+	53	8122	c.7739_splice	c.e53-1	p.E2580_splice	NF1_uc002hgh.3_Splice_Site_p.E2559_splice|NF1_uc010cso.3_Splice_Site_p.E768_splice|NF1_uc010wbt.1_Splice_Site_p.E58_splice|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2580					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTGCTGCAGAAACTCAGAG	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				79			55		0	0	0.003610	0	0
C5orf42	65250	broad.mit.edu	37	5	37165645	37165645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:37165645G>A	uc011cpa.1	-	35	7760	c.7529C>T	c.(7528-7530)cCc>cTc	p.P2510L	C5orf42_uc011coy.1_Missense_Mutation_p.P1010L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1585L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2510										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTATACCTTGGGTTTCTTAAT	0.358000														28			9		0	0	0.006214	0	0
LCT	3938	broad.mit.edu	37	2	136562526	136562526	+	Silent	SNP	G	A	A	rs79686438		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:136562526G>A	uc002tuu.1	-	9	4286	c.4275C>T	c.(4273-4275)gcC>gcT	p.A1425A		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1425	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AACTGTCACAGGCCACGTCTC	0.537000														25			8		0	0	0.003080	0	0
INPP5D	3635	broad.mit.edu	37	2	233990557	233990557	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:233990557G>C	uc010zmo.2	+	3	605	c.452G>C	c.(451-453)cGa>cCa	p.R151P	INPP5D_uc010zmp.2_Missense_Mutation_p.R150P	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	151					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GAGAATCCCCGAGCGACCGAG	0.602000														7			8		0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152285985	152285985	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152285985C>T	uc001ezu.1	-	2	1413	c.1377G>A	c.(1375-1377)ggG>ggA	p.G459G	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	459	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)			CAGACCGTTCCCCTGACCGGC	0.587000									Ichthyosis					80			69		0	0	0.003610	0	0
PHKG2	5261	broad.mit.edu	37	16	30764754	30764754	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:30764754C>T	uc002dzk.2	+	5	642	c.432C>T	c.(430-432)ctC>ctT	p.L144L	PHKG2_uc021tgo.1_Silent_p.L144L	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	144	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TGAGCTTTCTCCATGCCAACA	0.562000														16			17		0	0	0.004990	0	0
DVL3	1857	broad.mit.edu	37	3	183887885	183887886	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:183887885_183887886CC>TT	uc003fms.3	+	13	1730_1731	c.1590_1591CC>TT	c.(1588-1593)gcccct>gcTTct	p.P531S	DVL3_uc011bqw.2_Missense_Mutation_p.P514S|DVL3_uc003fmt.3_Missense_Mutation_p.P202S|DVL3_uc003fmu.3_Missense_Mutation_p.P363S	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	531					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGGGGGCCGCCCCTTGGCCCAT	0.683000														21			6		0	0	0.004672	0	0
ADCY10	55811	broad.mit.edu	37	1	167802365	167802365	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:167802365C>T	uc001ger.3	-	24	3751	c.3453G>A	c.(3451-3453)aaG>aaA	p.K1151K	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.K998K|ADCY10_uc009wvk.3_Silent_p.K1059K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1151					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGCATTTTCTTGGCAAGCA	0.428000														176			53		0	0	0.003610	0	0
MORC1	27136	broad.mit.edu	37	3	108724021	108724021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:108724021C>T	uc003dxl.3	-	18	1996	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	MORC1_uc011bhn.2_Missense_Mutation_p.E616K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	637					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTTTTGTTTCTGAAATATAC	0.388000														42			39		0	0	0.005524	0	0
UBE2O	63893	broad.mit.edu	37	17	74387359	74387359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:74387359G>A	uc002jrm.4	-	17	3609	c.3544C>T	c.(3544-3546)Caa>Taa	p.Q1182*	UBE2O_uc002jrl.4_Nonsense_Mutation_p.Q786*	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	1182							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGTTCTTGTTGGCCGGAGTCT	0.687000														64			9		0	0	0.006214	0	0
CYLC1	1538	broad.mit.edu	37	X	83129107	83129107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:83129107G>A	uc004eei.1	+	3	1412	c.1391G>A	c.(1390-1392)gGg>gAg	p.G464E	CYLC1_uc004eeh.1_Missense_Mutation_p.G463E	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	464					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAAGAAGGGGAAGAAAGAT	0.348000														3			3		0	0	0.004672	0	0
ADCY8	114	broad.mit.edu	37	8	131848633	131848633	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:131848633G>A	uc003ytd.4	-	11	2821	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_uc010mds.3_Silent_p.S724S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	855					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)			GCTTCAGGACGGAGTTCAGCC	0.537000										HNSCC(32;0.087)				44			15		0	0	0.004007	0	0
DNAH3	55567	broad.mit.edu	37	16	20975320	20975320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:20975320G>A	uc010vbe.2	-	52	9886	c.9886C>T	c.(9886-9888)Cca>Tca	p.P3296S	DNAH3_uc010vbd.2_Missense_Mutation_p.P731S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3296					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)		ACAGCCACTGGCTTGTAGCCC	0.483000														45			40		0	0	0.007835	0	0
NR2E1	7101	broad.mit.edu	37	6	108502808	108502808	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:108502808C>T	uc003psg.3	+	7	1703	c.948C>T	c.(946-948)gcC>gcT	p.A316A		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	316	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCATTGCAGCCCTTCAAGATG	0.448000														43			33		0	0	0.002522	0	0
MEI1	150365	broad.mit.edu	37	22	42128505	42128505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:42128505C>T	uc003baz.1	+	10	1254	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.S410L|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	410							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTCACAAGCTCAGCCATGTGC	0.552000														23			17		0	0	0.008871	0	0
FOXR2	139628	broad.mit.edu	37	X	55650279	55650279	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:55650279C>T	uc004duo.3	+	0	447	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	45					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGAGCAAATCCTTGCCAAAT	0.517000														2			40		0	0	0.007835	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068407	57068407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:57068407C>T	uc001njr.3	-	8	5392	c.5080G>A	c.(5080-5082)Gga>Aga	p.G1694R	TNKS1BP1_uc001njq.3_Missense_Mutation_p.G267R|TNKS1BP1_uc001njs.3_Missense_Mutation_p.G1694R	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1694	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTTCCCAGTCCTGGGACCTTG	0.597000														9			35		0	0	0.004878	0	0
LHX8	431707	broad.mit.edu	37	1	75608860	75608860	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:75608860C>T	uc001dgo.3	+	5	1111	c.447C>T	c.(445-447)gtC>gtT	p.V149V	LHX8_uc021oou.1_Silent_p.V149V|LHX8_uc001dgq.3_Silent_p.V88V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	149	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGACTGGGTCCGGAGAGCCA	0.468000														39			16		0	0	0.006122	0	0
STK10	6793	broad.mit.edu	37	5	171510058	171510058	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:171510058G>A	uc003mbo.1	-	10	2016	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	572							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCTTTCTGGAGCAGCCGAA	0.458000														38			15		0	0	0.008871	0	0
SPEG	10290	broad.mit.edu	37	2	220354500	220354500	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:220354500C>T	uc010fwg.3	+	35	8760	c.8760C>T	c.(8758-8760)ccC>ccT	p.P2920P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2920	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTGAGCCCCCTCCTGAGC	0.627000														17			10		0	0	0.006214	0	0
ASH1L	55870	broad.mit.edu	37	1	155319343	155319343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:155319343G>A	uc009wqq.3	-	17	7906	c.7426C>T	c.(7426-7428)Cca>Tca	p.P2476S	ASH1L_uc001fkt.3_Missense_Mutation_p.P2471S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2476	Bromo.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTTCTTTGGGGGAAGGTTC	0.448000														14			11		0	0	0.001368	0	0
SPHKAP	80309	broad.mit.edu	37	2	228996724	228996724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:228996724G>A	uc002vpq.2	-	1	157	c.110C>T	c.(109-111)cCg>cTg	p.P37L	SPHKAP_uc002vpp.2_Missense_Mutation_p.P37L|SPHKAP_uc010zlx.1_Missense_Mutation_p.P37L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	37						cytoplasm	protein binding	p.P37Q(3)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGTTCCCCGGGCCGCTTCC	0.468000														66			16		0	0	0.004007	0	0
APOB	338	broad.mit.edu	37	2	21239422	21239422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:21239422C>T	uc002red.3	-	20	3349	c.3221G>A	c.(3220-3222)gGa>gAa	p.G1074E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1074					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)	GAGGATTGTTCCGAGGTCAAC	0.448000														222			117		0	0	0.003610	0	0
TRO	7216	broad.mit.edu	37	X	54956549	54956549	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:54956549C>G	uc004dtq.3	+	11	3499	c.3392C>G	c.(3391-3393)gCt>gGt	p.A1131G	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.A662G|TRO_uc004dtw.3_Missense_Mutation_p.A734G|TRO_uc004dtx.3_Missense_Mutation_p.A514G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1131	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGCTTTGGTGCTGCTCCCAGC	0.577000														1			4		0	0	0.004007	0	0
SERGEF	26297	broad.mit.edu	37	11	18026049	18026049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:18026049G>A	uc001mnm.3	-	3	466	c.386C>T	c.(385-387)tCc>tTc	p.S129F	SERGEF_uc009yhd.3_Non-coding_Transcript|SERGEF_uc001mnn.3_Missense_Mutation_p.S129F|SERGEF_uc010rcz.1_Missense_Mutation_p.S15F	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), mRNA.	129					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	Ran guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGGCCAAAGGAGTTGGATCC	0.418000														28			7		0	0	0.004482	0	0
TSGA13	114960	broad.mit.edu	37	7	130357685	130357685	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:130357685T>C	uc003vqi.3	-	5	876	c.419A>G	c.(418-420)aAc>aGc	p.N140S	TSGA13_uc003vqj.3_Missense_Mutation_p.N140S	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	140										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CAGCCAGAGGTTCTCAGTGGG	0.468000														248			230		0	0	0.003610	0	0
C1orf105	92346	broad.mit.edu	37	1	172417629	172417629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:172417629G>A	uc001gik.3	+	2	354	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	52										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGAAGAATATGAATTTGCCAA	0.333000														68			63		0	0	0.003610	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19716332	19716332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:19716332C>T	uc002ykw.3	-	10	1248	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	406	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGCCCCACTCGTTCTTGTCT	0.383000														73			71		0	0	0.003610	0	0
SLC2A4	6517	broad.mit.edu	37	17	7188167	7188167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7188167C>T	uc002gfp.3	+	7	1129	c.929C>T	c.(928-930)tCg>tTg	p.S310L	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.S300L	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	310					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	p.S310S(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TTCTATTATTCGACCAGCATC	0.552000														123			28		0	0	0.008361	0	0
PPFIA3	8541	broad.mit.edu	37	19	49632189	49632189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:49632189C>T	uc002pmr.3	+	3	759	c.427C>T	c.(427-429)Ccg>Tcg	p.P143S	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.P67S|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.P11S	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	143						cell surface|cytoplasm	protein binding	p.P143P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCCAGTCCCCGGGTGGGGT	0.587000														26			7		0	0	0.003080	0	0
SLC38A10	124565	broad.mit.edu	37	17	79244725	79244725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:79244725G>A	uc002jzz.1	-	9	1499	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	SLC38A10_uc002jzy.1_Missense_Mutation_p.S293F|SLC38A10_uc002kab.3_Missense_Mutation_p.S375F	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	375					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCTGGGAGGAAAGTGCGTT	0.617000														29			10		0	0	0.001855	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379083	25379083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:25379083C>T	uc003gro.3	+	1	163	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W		NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	12					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|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|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CCCATCCTTCCGGGTGGTGGG	0.627000														25			6		0	0	0.001984	0	0
SYT2	127833	broad.mit.edu	37	1	202571506	202571506	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:202571506C>T	uc001gye.3	-	5	826	c.633_splice	c.e5+1	p.K211_splice	SYT2_uc010pqb.2_Splice_Site_p.K211_splice|SYT2_uc009xaf.3_Splice_Site_p.K41_splice	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	211	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCCTCAGCACCTTGAAGGTGA	0.507000														57			51		0	0	0.003610	0	0
FSTL5	56884	broad.mit.edu	37	4	162402298	162402298	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:162402298C>T	uc003iqh.3	-	12	1918	c.1482G>A	c.(1480-1482)gaG>gaA	p.E494E	FSTL5_uc003iqi.3_Silent_p.E493E|FSTL5_uc010iqv.3_Silent_p.E484E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	494						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)		CTTCATCTCCCTCAGCTTTGG	0.373000														118			43		0	0	0.003610	0	0
ZNF823	55552	broad.mit.edu	37	19	11832979	11832979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:11832979G>A	uc002msm.2	-	3	1496	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	ZNF823_uc010xmd.1_Missense_Mutation_p.S275F|ZNF823_uc010dyi.1_Missense_Mutation_p.S413F	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATTTTGAAAGGAAGAGAGATC	0.423000										HNSCC(68;0.2)				54			44		0	0	0.008740	0	0
ZNF226	7769	broad.mit.edu	37	19	44679881	44679881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:44679881C>T	uc002oys.3	+	5	646	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	ZNF226_uc002oyp.3_Missense_Mutation_p.P156S|ZNF226_uc002oyq.3_Missense_Mutation_p.P39S|ZNF226_uc002oyr.3_Missense_Mutation_p.P39S|ZNF226_uc002oyt.3_Missense_Mutation_p.P156S	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGCAGATGGTCCCAATAATAC	0.403000														7			17		0	0	0.004990	0	0
ARNTL	406	broad.mit.edu	37	11	13388252	13388252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:13388252C>T	uc001mkr.3	+	10	1001	c.593C>T	c.(592-594)cCt>cTt	p.P198L	ARNTL_uc001mko.3_Missense_Mutation_p.P155L|ARNTL_uc001mkp.3_Missense_Mutation_p.P198L|ARNTL_uc001mkq.3_Missense_Mutation_p.P198L|ARNTL_uc001mks.3_Missense_Mutation_p.P155L|ARNTL_uc001mkt.3_Missense_Mutation_p.P198L|ARNTL_uc009ygm.1_Missense_Mutation_p.P155L|ARNTL_uc001mkv.1_Missense_Mutation_p.P155L|ARNTL_uc001mkw.3_Missense_Mutation_p.P155L|ARNTL_uc001mkx.3_Missense_Mutation_p.P196L	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	198	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TACCTGCATCCTAAAGATATT	0.458000														93			55		0	0	0.003610	0	0
ITGA2	3673	broad.mit.edu	37	5	52379209	52379209	+	Silent	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:52379209T>C	uc003joy.3	+	26	3327	c.3184T>C	c.(3184-3186)Ttg>Ctg	p.L1062L	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.L986L|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	1062					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TACCTGCTGGTTGAAAGACGT	0.348000														9			11		0	0	0.001855	0	0
NEK1	4750	broad.mit.edu	37	4	170398377	170398377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:170398377C>T	uc003isd.2	-	25	2910	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K	NEK1_uc003ise.2_Missense_Mutation_p.E734K|NEK1_uc003isb.2_Missense_Mutation_p.E750K|NEK1_uc003isc.2_Missense_Mutation_p.E706K|NEK1_uc003isf.2_Missense_Mutation_p.E681K	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	750					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACTGATTTTTCTTTTTCATGC	0.368000														10			4		0	0	0.000602	0	0
TIE1	7075	broad.mit.edu	37	1	43785140	43785140	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:43785140C>A	uc001ciu.3	+	18	3224	c.3047C>A	c.(3046-3048)cCt>cAt	p.P1016H	TIE1_uc010oke.2_Missense_Mutation_p.P971H|TIE1_uc009vwq.3_Missense_Mutation_p.P972H|TIE1_uc010okg.2_Missense_Mutation_p.P661H|TIE1_uc021omo.1_5'Flank	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	1016	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCGTCTCCCTGTGCGCTGG	0.597000														85			6		0.00198382	0.00270897	0.001984	1	0
STAB1	23166	broad.mit.edu	37	3	52551110	52551111	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:52551110_52551111GG>AA	uc003dej.3	+	41	4548_4549	c.4474_4475GG>AA	c.(4474-4476)ggg>AAg	p.G1492K	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1492	EGF-like 11.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CATGGGCGACGGGGAGCTGTGC	0.624000														22			8		0	0	0.004672	0	0
ADNP2	22850	broad.mit.edu	37	18	77893615	77893615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:77893615C>T	uc002lnw.3	+	3	774	c.319C>T	c.(319-321)Cct>Tct	p.P107S		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	107					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GCTGGTGATCCCTTGCCCAAA	0.438000														50			18		0	0	0.002299	0	0
CCDC63	160762	broad.mit.edu	37	12	111318964	111318964	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:111318964G>A	uc001trv.1	+	6	912	c.717G>A	c.(715-717)aaG>aaA	p.K239K	CCDC63_uc009zvt.1_Missense_Mutation_p.E94K|CCDC63_uc010sye.1_Silent_p.K199K|CCDC63_uc001trw.1_Silent_p.K154K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	239										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ACCGCCAGAAGAAGGACACCT	0.562000														16			6		0	0	0.001168	0	0
TXLNB	167838	broad.mit.edu	37	6	139609965	139609965	+	Silent	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:139609965T>C	uc021zfy.1	-	1	237	c.72A>G	c.(70-72)ttA>ttG	p.L24L		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	24						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TGTGACTGGGTAATGATGAAC	0.512000														39			35		0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179554063	179554063	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179554063C>T	uc021vsy.1	-	120	28458	c.28233G>A	c.(28231-28233)agG>agA	p.R9411R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R6072R|TTN_uc010fre.1_Silent_p.R522R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10338	Ig-like 77.						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)			GAACAGGTTTCCTTTCTTCAG	0.363000														17			23		0	0	0.003954	0	0
SCGN	10590	broad.mit.edu	37	6	25689431	25689431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:25689431C>T	uc003nfb.3	+	7	762	c.559C>T	c.(559-561)Caa>Taa	p.Q187*	SCGN_uc010jpz.3_Nonsense_Mutation_p.Q78*	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	187						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCCTTCTCCAATTTAAAAT	0.368000														82			12		0	0	0.002450	0	0
KLHL38	340359	broad.mit.edu	37	8	124659207	124659207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:124659207C>T	uc003yqs.1	-	1	1422	c.1398G>A	c.(1396-1398)atG>atA	p.M466I		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	466										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGTTCTTGATCATTCTTGTCT	0.463000														78			73		0	0	0.003610	0	0
ASNA1	439	broad.mit.edu	37	19	12858873	12858873	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:12858873C>T	uc002muv.3	+	6	1016	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	334					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	TCAACACCTTCTCGGCCCTCC	0.627000														21			23		0	0	0.003330	0	0
CCNT1	904	broad.mit.edu	37	12	49087904	49087904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:49087904G>A	uc001rsd.4	-	8	1416	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	CCNT1_uc009zkz.2_Missense_Mutation_p.P80S|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	365					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCATCCTGTGGTAAGGAATGA	0.448000														62			25		0	0	0.004656	0	0
E2F8	79733	broad.mit.edu	37	11	19259529	19259529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:19259529G>A	uc001mpm.3	-	2	688	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.P56S|E2F8_uc001mpo.1_Missense_Mutation_p.P56S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	56					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGTCCACGGCTCTCCCTGA	0.517000														129			22		0	0	0.002299	0	0
GRID1	2894	broad.mit.edu	37	10	87379753	87379753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:87379753G>A	uc001kdl.1	-	13	2332	c.2231C>T	c.(2230-2232)gCc>gTc	p.A744V	GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Missense_Mutation_p.A315V	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	744						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTCCACCACGGCCACATCCCA	0.552000										Multiple Myeloma(13;0.14)				15			17		0	0	0.006122	0	0
ICOSLG	23308	broad.mit.edu	37	21	45657027	45657027	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:45657027G>A	uc010gpp.1	-	2	263	c.129C>T	c.(127-129)agC>agT	p.S43S	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.S43S|ICOSLG_uc011afc.2_Intron	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	43	Ig-like V-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AATCAAAACGGCTTCCTTCAG	0.498000														58			14		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222527	140222527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140222527G>A	uc003lhs.2	+	0	1621	c.1621G>A	c.(1621-1623)Ggc>Agc	p.G541S	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.G541S	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	555	Cadherin 5.				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)			GCGCGACGCGGGCGTGCCGCC	0.677000														54			18		0	0	0.006122	0	0
CMYA5	202333	broad.mit.edu	37	5	79029225	79029225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:79029225C>T	uc003kgc.3	+	1	4709	c.4637C>T	c.(4636-4638)tCa>tTa	p.S1546L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1546						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAACTTCCTTCATCACAAAAT	0.418000														44			30		0	0	0.007291	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433650	67433650	+	Missense_Mutation	SNP	C	T	T	rs139967003		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:67433650C>T	uc001omr.3	-	5	701	c.262G>A	c.(262-264)Gga>Aga	p.G88R	ALDH3B2_uc001oms.3_Missense_Mutation_p.G88R|ALDH3B2_uc009ysa.1_Missense_Mutation_p.G88R	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	88					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TCCTGGGGTCCGCCCAGCACC	0.647000														46			17		0	0	0.001882	0	0
SCARA5	286133	broad.mit.edu	37	8	27737269	27737269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27737269G>A	uc003xgj.3	-	7	1779	c.1168C>T	c.(1168-1170)Ccg>Tcg	p.P390S	SCARA5_uc010luz.3_Missense_Mutation_p.P165S	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	390					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ATCATCATCGGGGCCTCCACG	0.662000														14			15		0	0	0.003163	0	0
SYCP1	6847	broad.mit.edu	37	1	115537595	115537595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:115537595G>A	uc001efr.3	+	31	3095	c.2886G>A	c.(2884-2886)atG>atA	p.M962I	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.M962I|SYCP1_uc009wgw.3_Missense_Mutation_p.M937I	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	962	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.M962I(2)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TTGCTAAAATGGATAGAAAAA	0.363000														15			30		0	0	0.001786	0	0
OR4N2	390429	broad.mit.edu	37	14	20295728	20295728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20295728G>A	uc010tkv.2	+	0	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCCTCCCTGGAAATTTTCT	0.443000														229			52		0	0	0.003610	0	0
MILR1	284021	broad.mit.edu	37	17	62462587	62462587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62462587C>T	uc010wpz.2	+	1	119	c.101C>T	c.(100-102)cCa>cTa	p.P34L	MILR1_uc021ubp.1_Missense_Mutation_p.P34L			Q7Z6M3	MILR1_HUMAN	Homo sapiens mast cell immunoglobulin-like receptor 1 (MILR1), mRNA.	0						integral to membrane|plasma membrane											AAGTGGGATCCAGGCCGTGTG	0.463000														12			15		0	0	0.003163	0	0
MYH2	4620	broad.mit.edu	37	17	10432487	10432487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10432487C>T	uc010coi.3	-	25	3474	c.3346G>A	c.(3346-3348)Gaa>Aaa	p.E1116K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1116K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1116					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACTTGCAATTCTTTAATTTTC	0.393000														67			11		0	0	0.002450	0	0
TMEM79	84283	broad.mit.edu	37	1	156261300	156261300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156261300G>A	uc010phi.2	+	3	1292	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	TMEM79_uc001fod.3_Missense_Mutation_p.E207K|TMEM79_uc009wrw.3_Missense_Mutation_p.E366K|C1orf85_uc001fof.4_Intron	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGTGGAGCCGGAGCGCATGCT	0.677000														55			52		0	0	0.003610	0	0
LAMA1	284217	broad.mit.edu	37	18	7008537	7008537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:7008537G>A	uc002knm.3	-	27	4166	c.4072C>T	c.(4072-4074)Ctt>Ttt	p.L1358F	LAMA1_uc010wzj.2_Missense_Mutation_p.L834F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1358	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTCTAAAAGAGATGCAACC	0.453000														9			22		0	0	0.001523	0	0
HMCN1	83872	broad.mit.edu	37	1	186083197	186083197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:186083197C>T	uc001grq.1	+	72	11447	c.11218C>T	c.(11218-11220)Cca>Tca	p.P3740S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3740	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGGTGTGCCAACTCCAAG	0.413000														94			22		0	0	0.002780	0	0
XAGE3	170626	broad.mit.edu	37	X	52896099	52896099	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:52896099C>T	uc004dre.3	-	1	126	c.66G>A	c.(64-66)ctG>ctA	p.L22L	XAGE3_uc004drf.3_Silent_p.L22L	NM_130776	NP_573440	Q8WTP9	GAGD4_HUMAN	Homo sapiens X antigen family, member 3 (XAGE3), transcript variant 2, mRNA.	22										kidney(1)|large_intestine(1)|lung(2)	4						TAGGCCCAATCAGCTCAGGAG	0.393000														38			41		0	0	0.003610	0	0
SLX4	84464	broad.mit.edu	37	16	3633161	3633161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:3633161G>A	uc002cvp.2	-	13	5717	c.5090C>T	c.(5089-5091)cCa>cTa	p.P1697L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1697	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGAGAGGCTGGGATCTGGGC	0.592000								Direct reversal of damage						61			15		0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135432151	135432151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:135432151G>A	uc004ezu.1	+	5	6577	c.6286G>A	c.(6286-6288)Gat>Aat	p.D2096N	GPR112_uc010nsb.1_Missense_Mutation_p.D1891N|GPR112_uc010nsc.1_Missense_Mutation_p.D1863N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2096					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAATGTCACAGATGACATTGT	0.473000														16			27		0	0	0.008361	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296630	28296630	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:28296630G>A	uc002ymg.3	-	7	3264	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	845	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGCTATAACGGACATCTAATG	0.468000														61			48		0	0	0.003610	0	0
POTEC	388468	broad.mit.edu	37	18	14543007	14543007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:14543007C>T	uc010dln.3	-	0	593	c.139G>A	c.(139-141)Gga>Aga	p.G47R	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	47										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCGTGGTCTCCAGAAGTGCCC	0.577000														85			23		0	0	0.002780	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879493	3879493	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:3879493C>T	uc002kmf.3	-	3	1103	c.576G>A	c.(574-576)aaG>aaA	p.K192K	DLGAP1_uc010wyz.2_Silent_p.K192K|DLGAP1_uc002kmk.2_Silent_p.K192K|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	192					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGGCCGGGCCTTGGGCTCCG	0.697000														17			42		0	0	0.003214	0	0
PTPN11	5781	broad.mit.edu	37	12	112926270	112926270	+	Missense_Mutation	SNP	C	T	T	rs121918457		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:112926270C>T	uc001ttx.3	+	11	1783	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	472	Substrate binding (By similarity).|Tyrosine-protein phosphatase.		G -> A (in LEOPARD1).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T468M(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CGGACAGGGACGTTCATTGTG	0.443000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					25			33		0	0	0.006999	0	0
IKZF2	22807	broad.mit.edu	37	2	213872409	213872409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:213872409G>A	uc002vem.3	-	7	1425	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	IKZF2_uc010fuu.3_Missense_Mutation_p.S274F|IKZF2_uc002vej.3_Missense_Mutation_p.S366F|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.S345F|IKZF2_uc002vel.3_Missense_Mutation_p.S340F|IKZF2_uc010fuw.3_Missense_Mutation_p.S193F|IKZF2_uc010fux.3_Missense_Mutation_p.S193F|IKZF2_uc010fuy.3_Missense_Mutation_p.S347F|IKZF2_uc002ven.3_Missense_Mutation_p.S393F|IKZF2_uc002vei.3_Missense_Mutation_p.S197F	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCCTTGGTAGGACTGGTGGTC	0.517000														95			45		0	0	0.003610	0	0
MATN4	8785	broad.mit.edu	37	20	43926853	43926853	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:43926853G>A	uc002xnn.2	-	6	1570	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	MATN4_uc002xnp.2_Silent_p.S379S|MATN4_uc002xno.2_Silent_p.S420S|MATN4_uc010zwr.1_Silent_p.S409S|MATN4_uc002xnr.1_Silent_p.S461S	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	502	VWFA 2.					extracellular region	protein binding	p.R460C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGTCATCCTGGGAGCGGCCAT	0.667000														36			27		0	0	0.002445	0	0
DUSP19	142679	broad.mit.edu	37	2	183960158	183960158	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:183960158G>A	uc002upd.3	+	4	802	c.427_splice	c.e4-1	p.D143_splice	DUSP19_uc010frp.3_Splice_Site_p.D92_splice|DUSP19_uc010zfr.2_Splice_Site|DUSP19_uc002upe.3_Splice_Site_p.K103_splice	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN	Homo sapiens dual specificity phosphatase 19 (DUSP19), transcript variant 1, mRNA.	143	Tyrosine-protein phosphatase.				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TTTTTTTGTAGGATGGAGTGG	0.318000														27			44		0	0	0.002852	0	0
COL9A1	1297	broad.mit.edu	37	6	70964882	70964882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:70964882G>A	uc003pfg.4	-	22	1741	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	COL9A1_uc003pfe.4_Missense_Mutation_p.P101S|COL9A1_uc003pff.4_Missense_Mutation_p.P285S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	528	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGGAGACCAGGAATTCCTCTA	0.433000														112			29		0	0	0.002096	0	0
WNK3	65267	broad.mit.edu	37	X	54319341	54319341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:54319341G>A	uc004dtc.2	-	9	2456	c.2017C>T	c.(2017-2019)Cag>Tag	p.Q673*	WNK3_uc004dtd.2_Nonsense_Mutation_p.Q673*	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	673					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGACCTTCTGAACAGTTAAT	0.408000														15			5		0	0	0.001168	0	0
MADCAM1	8174	broad.mit.edu	37	19	504926	504926	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:504926G>A	uc002los.3	+	4	1120	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	MADCAM1_uc002lot.3_Silent_p.G283G|MADCAM1_uc010drq.3_Silent_p.G188G|TPGS1_uc002lou.3_5'Flank|Mir_324_uc021ulw.1_5'Flank	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	370					cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		p.G370W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		CCTGGGCTGGGTTAAGGGGGA	0.622000														10			8		0	0	0.003080	0	0
RALGDS	5900	broad.mit.edu	37	9	135984181	135984181	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:135984181G>A	uc004cco.3	-	4	677	c.657C>T	c.(655-657)ccC>ccT	p.P219P	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.P207P|RALGDS_uc004ccr.3_Silent_p.P218P|RALGDS_uc011mcv.2_Silent_p.P190P|RALGDS_uc004ccs.3_Silent_p.P164P|RALGDS_uc011mcw.2_Silent_p.P290P|RALGDS_uc004ccv.1_5'UTR|RALGDS_uc004ccu.1_5'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	219	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTTGAGGCAGGGAAAGTCCG	0.632000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									19			9		0	0	0.008291	0	0
PCK1	5105	broad.mit.edu	37	20	56138162	56138162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:56138162C>T	uc002xyn.4	+	4	852	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	230					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAGATCATCTCCTTTGGCAGT	0.622000														24			14		0	0	0.002096	0	0
DLG2	1740	broad.mit.edu	37	11	83170881	83170881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:83170881G>A	uc001paj.2	-	22	2896	c.2593C>T	c.(2593-2595)Ccc>Tcc	p.P865S	DLG2_uc001pai.2_Missense_Mutation_p.P744S|DLG2_uc010rsy.1_Missense_Mutation_p.P814S|DLG2_uc021qof.1_Missense_Mutation_p.P904S|DLG2_uc010rsz.1_Missense_Mutation_p.P861S|DLG2_uc010rta.1_Missense_Mutation_p.P847S|DLG2_uc001pak.2_Missense_Mutation_p.P970S|DLG2_uc010rsx.1_Missense_Mutation_p.P342S|DLG2_uc010rsw.1_Missense_Mutation_p.P329S	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	865						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.P865P(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCTTTGAGGGAATCCAGATG	0.358000														88			29		0	0	0.002096	0	0
MIR206	406989	broad.mit.edu	37	6	52009185	52009185	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:52009185G>A	uc003paj.1	+	0		c.39G>A								Homo sapiens microRNA 206 (MIR206), microRNA.																		ATCCCCATATGGATTACTTTG	0.532000														40			17		0	0	0.008871	0	0
RP1	6101	broad.mit.edu	37	8	55534729	55534729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:55534729G>A	uc003xsd.1	+	2	816	c.668G>A	c.(667-669)gGa>gAa	p.G223E	RP1_uc011ldy.1_Missense_Mutation_p.G223E	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	223	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G223V(2)|p.G223G(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGGCGGCAGGAAGGGAGCCA	0.478000														44			8		0	0	0.003080	0	0
IL21R	50615	broad.mit.edu	37	16	27460580	27460580	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:27460580G>A	uc002dor.2	+	9	2207	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	IL21R_uc002doq.2_Silent_p.S531S|IL21R_uc002dos.2_Silent_p.S531S|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	531					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CGCCACTTTCGAGCCCTGGAC	0.652000			T	BCL6	NHL									19			9		0	0	0.000978	0	0
LHX9	56956	broad.mit.edu	37	1	197898140	197898140	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:197898140C>T	uc001guk.1	+	4	1382	c.945C>T	c.(943-945)ttC>ttT	p.F315F	LHX9_uc001gui.1_Silent_p.F306F|LHX9_uc021pgw.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	315					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGGTTTGGTTCCAAAACGCAC	0.438000														27			10		0	0	0.001368	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879495	144879496	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:144879495_144879496GG>AA	uc021ouh.1	-	26	4256_4257	c.3954_3955CC>TT	c.(3952-3957)cgccgg>cgTTgg	p.R1319W	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.R1319W|PDE4DIP_uc001elx.4_Missense_Mutation_p.R1275W|PDE4DIP_uc001elv.4_Missense_Mutation_p.R326W	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1319					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			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)		GTTGAGCCCCGGCGTCCCTGCT	0.500000			T	PDGFRB	MPD									102			532		0	0	0.004672	0	0
DNAH2	146754	broad.mit.edu	37	17	7727471	7727471	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7727471C>T	uc002giu.1	+	74	11525	c.11511C>T	c.(11509-11511)ctC>ctT	p.L3837L	DNAH2_uc010cnm.1_Silent_p.L775L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3837	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATCCCCACTCGTGTTCATCC	0.617000														31			24		0	0	0.005443	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433506	72433506	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:72433506T>C	uc004ebi.3	-	0	1205	c.823A>G	c.(823-825)Aag>Gag	p.K275E		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	275					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCTGAAAGCTTAACTTTAATA	0.358000														0			33		0	0	0.002836	0	0
C3	718	broad.mit.edu	37	19	6696664	6696664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:6696664C>T	uc002mfm.3	-	21	2865	c.2803G>A	c.(2803-2805)Gga>Aga	p.G935R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	935					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATTCTGATTCCTTCCGGCTAC	0.582000														74			30		0	0	0.002836	0	0
MANEA	79694	broad.mit.edu	37	6	96053773	96053773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:96053773C>T	uc003poo.2	+	4	1061	c.881C>T	c.(880-882)cCt>cTt	p.P294L		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	294	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CGCAATTCTCCTTATGATGGA	0.368000														46			15		0	0	0.003163	0	0
TBC1D13	54662	broad.mit.edu	37	9	131568245	131568245	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:131568245C>T	uc010myj.3	+	9	1149	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	TBC1D13_uc010myk.3_Silent_p.F217F|TBC1D13_uc010myl.3_Silent_p.F161F	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	342	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACTCCCTCTTCGCCGATGACA	0.582000														22			7		0	0	0.004482	0	0
KRT84	3890	broad.mit.edu	37	12	52776840	52776840	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:52776840C>T	uc001sah.1	-	2	813	c.765G>A	c.(763-765)gaG>gaA	p.E255E		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	255	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATACCACTTCCTCTTCATACC	0.498000														46			12		0	0	0.003163	0	0
DDX42	11325	broad.mit.edu	37	17	61888459	61888459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61888459C>T	uc002jbu.3	+	13	1581	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W	DDX42_uc002jbv.3_Missense_Mutation_p.R442W|DDX42_uc002jbw.1_Missense_Mutation_p.R178W|DDX42_uc002jbx.3_Missense_Mutation_p.R178W|DDX42_uc002jby.3_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	442	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGCAACTTTTCGGAAGAAGAT	0.408000														38			6		0	0	0.001168	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690284	26690284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:26690284C>T	uc003acb.3	+	2	1058	c.862C>T	c.(862-864)Cct>Tct	p.P288S	SEZ6L_uc003acd.3_Missense_Mutation_p.P288S|SEZ6L_uc011akd.2_Missense_Mutation_p.P288S|SEZ6L_uc003ace.3_Missense_Mutation_p.P288S|SEZ6L_uc011akc.2_Missense_Mutation_p.P288S|SEZ6L_uc003acc.3_Missense_Mutation_p.P288S|SEZ6L_uc003acf.1_Missense_Mutation_p.P61S|SEZ6L_uc010gvc.1_Missense_Mutation_p.P61S	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	288	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTTCTCCAATCCTGAGGGGTA	0.512000														46			37		0	0	0.008740	0	0
SBNO1	55206	broad.mit.edu	37	12	123801828	123801828	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:123801828G>C	uc010tap.2	-	19	2875	c.2875C>G	c.(2875-2877)Cga>Gga	p.R959G	SBNO1_uc010tao.2_Missense_Mutation_p.R958G|SBNO1_uc010taq.2_Intron|SBNO1_uc001ues.1_5'Flank	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	959							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGAACTCTTCGCCTTTGATTT	0.368000														56			15		0	0	0.003163	0	0
CACNG5	27091	broad.mit.edu	37	17	64873459	64873459	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:64873459C>T	uc010wqi.2	+	1	246	c.9C>T	c.(7-9)gcC>gcT	p.A3A	CACNG5_uc010wqj.2_Silent_p.A3A	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	3					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGATGAGTGCCTGCGGGAGGA	0.637000														14			21		0	0	0.002780	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36244917	36244917	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:36244917G>A	uc001wtj.3	-	1	532	c.141C>T	c.(139-141)ttC>ttT	p.F47F	RALGAPA1_uc001wti.3_Silent_p.F47F|RALGAPA1_uc010tpv.2_Silent_p.F47F|RALGAPA1_uc010tpw.1_Silent_p.F47F	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	47					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATGTTGGTCGAAAAACTGTT	0.264000														61			14		0	0	0.002450	0	0
TGM4	7047	broad.mit.edu	37	3	44951607	44951607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:44951607G>A	uc003coc.4	+	10	1426	c.1353G>A	c.(1351-1353)atG>atA	p.M451I		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	451					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGCAGGTCATGGATCATGCCT	0.517000														39			12		0	0	0.000978	0	0
TLR4	7099	broad.mit.edu	37	9	120475240	120475240	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:120475240G>A	uc004bjz.3	+	2	1125	c.834G>A	c.(832-834)gaG>gaA	p.E278E	TLR4_uc004bkb.3_Silent_p.E78E|TLR4_uc004bka.3_Silent_p.E238E	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	278					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						CTGCTCTAGAGGGCCTGTGCA	0.363000														54			51		0	0	0.003610	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698219	111698219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:111698219C>T	uc022cct.1	+	0	263	c.263C>T	c.(262-264)tCt>tTt	p.S88F	ZCCHC16_uc004epo.1_Missense_Mutation_p.S88F	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	88							nucleic acid binding|zinc ion binding	p.I87I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAAATCTCTAATCCTGCA	0.448000														0			39		0	0	0.002222	0	0
LY9	4063	broad.mit.edu	37	1	160788049	160788049	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160788049A>C	uc001fwu.3	+	5	1434	c.1384A>C	c.(1384-1386)Atg>Ctg	p.M462L	LY9_uc001fwv.3_Missense_Mutation_p.M462L|LY9_uc001fww.3_Missense_Mutation_p.M372L|LY9_uc001fwy.1_Missense_Mutation_p.M274L|LY9_uc001fwz.3_Missense_Mutation_p.M114L	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	462					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTTGTTCCTGATGGTTTGCCT	0.468000														38			22		0	0	0.003954	0	0
TET1	80312	broad.mit.edu	37	10	70451120	70451120	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:70451120T>C	uc001jok.4	+	11	6465	c.5960T>C	c.(5959-5961)tTg>tCg	p.L1987S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1987					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGGAGAAATTGCCCCACATT	0.498000														47			43		0	0	0.003610	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562967	140562967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140562967C>T	uc003liv.3	+	0	1988	c.833C>T	c.(832-834)tCa>tTa	p.S278L		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	278	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAAAATATCATACACACTC	0.468000														32			8		0	0	0.004482	0	0
TLN2	83660	broad.mit.edu	37	15	63000770	63000770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:63000770C>T	uc002alb.4	+	17	2242	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	748					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGGTGGACCGCTCGGTGGA	0.617000														36			6		0	0	0.001168	0	0
LGI3	203190	broad.mit.edu	37	8	22006231	22006231	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:22006231G>A	uc003xav.3	-	7	1378	c.1089C>T	c.(1087-1089)ggC>ggT	p.G363G	LGI3_uc010ltu.3_Silent_p.G339G	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	363					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GGGAGTAGAAGCCATTCTGGT	0.632000														15			14		0	0	0.004990	0	0
UACA	55075	broad.mit.edu	37	15	70960839	70960839	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:70960839G>A	uc002asr.3	-	15	2288	c.2184C>T	c.(2182-2184)ctC>ctT	p.L728L	UACA_uc010uke.2_Silent_p.L619L|UACA_uc002asq.3_Silent_p.L715L|UACA_uc010bin.1_Silent_p.L703L	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	728						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCTCCTTGAGGAGCTTATTAT	0.308000														45			38		0	0	0.003755	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692922	187692922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:187692922C>T	uc002upu.1	-	8	1731	c.1691G>A	c.(1690-1692)aGa>aAa	p.R564K		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	564					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTGTCCTCTCTTATTTTAGT	0.378000														22			13		0	0	0.001855	0	0
CD2AP	23607	broad.mit.edu	37	6	47576971	47576971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:47576971C>T	uc003oyw.3	+	15	2201	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	582					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.S582C(2)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAAAAAATTCCCTGGATGAA	0.393000														35			35		0	0	0.005524	0	0
LINC00518	221718	broad.mit.edu	37	6	10429936	10429936	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:10429936G>A	uc003myz.2	-	2		c.1100C>T								Homo sapiens long intergenic non-protein coding RNA 518 (LINC00518), non-coding RNA.																		CCACAAAAAAGAAAAAGAAGC	0.353000														1			4		0	0	0.000248	0	0
NCOR2	9612	broad.mit.edu	37	12	124824629	124824629	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124824629C>T	uc021rga.1	-	36	5748	c.5631G>A	c.(5629-5631)caG>caA	p.Q1877Q	NCOR2_uc021rgb.1_Silent_p.Q1861Q|NCOR2_uc010tbb.2_Silent_p.Q1870Q|NCOR2_uc010tbc.2_Silent_p.Q1860Q|NCOR2_uc021rgc.1_Silent_p.Q1860Q|NCOR2_uc010tba.2_Silent_p.Q1878Q|NCOR2_uc010tax.2_5'UTR	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1881					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTGGGTCTCTGCTGGAGGG	0.687000														35			10		0	0	0.001368	0	0
MTBP	27085	broad.mit.edu	37	8	121509778	121509778	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:121509778C>T	uc003ypc.1	+	13	1638	c.1593C>T	c.(1591-1593)acC>acT	p.T531T		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	531	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAATTAAAACCTTCAATATAT	0.259000														19			9		0	0	0.004482	0	0
BIRC6	57448	broad.mit.edu	37	2	32724828	32724829	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:32724828_32724829GG>AA	uc010ezu.3	+	45	8817_8818	c.8683_8684GG>AA	c.(8683-8685)gga>AAa	p.G2895K		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2895					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGCTTTGGGGGACTCTTTGCC	0.416000														89			46		0	0	0.004672	0	0
ABCC4	10257	broad.mit.edu	37	13	95816740	95816740	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:95816740C>T	uc001vmd.4	-	15	2186	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	ABCC4_uc010afk.3_Intron|ABCC4_uc001vme.2_Silent_p.E689E|ABCC4_uc010tih.1_Silent_p.E614E	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	689					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGAACGGTTCTCCTCTGATA	0.408000														15			11		0	0	0.000978	0	0
OR6C1	390321	broad.mit.edu	37	12	55715321	55715321	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55715321G>A	uc010spi.2	+	1	939	c.939_splice	c.e1+1	p.*313_splice		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAAGCACATGAAATGGTATG	0.403000														17			7		0	0	0.003080	0	0
ODZ3	55714	broad.mit.edu	37	4	183601411	183601411	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:183601411G>A	uc003ivd.1	+	7	1623	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	ODZ3_uc003ive.1_5'UTR	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	516	EGF-like 1.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTCTGTGGTGGAATGTCCCC	0.423000														23			7		0	0	0.003080	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967344	31967344	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:31967344G>A	uc010gek.3	-	8	1196	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	CDK5RAP1_uc002wyy.3_Silent_p.L254L|CDK5RAP1_uc002wyz.3_Silent_p.L344L|CDK5RAP1_uc002wza.3_Silent_p.L344L|CDK5RAP1_uc010gel.3_Silent_p.L254L|CDK5RAP1_uc010gem.3_Intron|CDK5RAP1_uc002wzc.1_Silent_p.L344L	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	358					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R357H(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ACCTGATCCAGAAGATGAGCA	0.493000														28			16		0	0	0.004007	0	0
DAPK2	23604	broad.mit.edu	37	15	64200735	64200735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:64200735C>T	uc002amr.3	-	11	1128	c.1097G>A	c.(1096-1098)aGg>aAg	p.R366K	DAPK2_uc010uim.2_Non-coding_Transcript	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	366					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GGTGCTGCTCCTCCTCCGTGG	0.607000														4			4		0	0	0.000602	0	0
PIGF	5281	broad.mit.edu	37	2	46840911	46840911	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:46840911A>G	uc002rvd.3	-	2	406	c.242T>C	c.(241-243)tTg>tCg	p.L81S	PIGF_uc002rvc.3_Missense_Mutation_p.L81S	NM_002643	NP_002634	Q07326	PIGF_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class F (PIGF), transcript variant 1, mRNA.	81					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ACAGCATTTCAAAAATCCAGT	0.308000														10			3		0	0	0.004672	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130754	75130754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:75130754G>A	uc011kfy.2	+	4	840	c.704G>A	c.(703-705)gGg>gAg	p.G235E	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	235																	TTCCTGTATGGGAAGAACCGC	0.552000														108			34		0	0	0.003610	0	0
MMP26	56547	broad.mit.edu	37	11	5010922	5010922	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5010922C>T	uc001lzv.3	+	1	162	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	48					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTCGCCACTCCTTACCCAGG	0.473000														8			9		0	0	0.001368	0	0
CD93	22918	broad.mit.edu	37	20	23065308	23065309	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:23065308_23065309CC>TT	uc002wsv.3	-	0	1669_1670	c.1521_1522GG>AA	c.(1519-1524)gagggc>gaAAgc	p.G508S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	508					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTGGGGGTGCCCTCGGGGCCCC	0.644000														22			23		0	0	0.004672	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100871156	100871156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:100871156G>A	uc002bvv.1	-	2	633	c.554C>T	c.(553-555)tCc>tTc	p.S185F	ADAMTS17_uc002bvx.1_5'UTR	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	185					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGGGGTCAAGGACCATTTGCG	0.582000														36			28		0	0	0.007291	0	0
CXADR	1525	broad.mit.edu	37	21	18931355	18931355	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:18931355G>A	uc002yki.3	+	3	701	c.477G>A	c.(475-477)aaG>aaA	p.K159K	CXADR_uc002ykh.2_Silent_p.K159K|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Silent_p.K159K|CXADR_uc002ykj.2_Silent_p.K159K	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	159	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTGACTTTAAGATAAAATGTG	0.358000														25			19		0	0	0.006122	0	0
TRIM24	8805	broad.mit.edu	37	7	138269649	138269649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:138269649C>T	uc003vuc.3	+	18	3321	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	TRIM24_uc003vub.3_Missense_Mutation_p.R1002W	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	1036					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.P1035L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGTACAGCCCCGGAAGAAACG	0.363000														21			35		0	0	0.002836	0	0
NRK	203447	broad.mit.edu	37	X	105184003	105184003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:105184003G>A	uc004emd.3	+	22	4240	c.3937G>A	c.(3937-3939)Ggc>Agc	p.G1313S	NRK_uc010npc.1_Missense_Mutation_p.G981S	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1313	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAAGTTAACAGGCTGTGAACA	0.363000										HNSCC(51;0.14)				0			6		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202066	140202066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140202066G>A	uc003lhl.2	+	0	706	c.706G>A	c.(706-708)Gat>Aat	p.D236N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.D236N|PCDHAC2_uc003lhj.1_Missense_Mutation_p.D236N	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	252	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCTAATGATAACGCCCC	0.378000														28			40		0	0	0.002222	0	0
NCOA2	10499	broad.mit.edu	37	8	71068277	71068277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:71068277G>A	uc003xyn.1	-	10	2485	c.2323C>T	c.(2323-2325)Cct>Tct	p.P775S		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	775					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTACTGGCAGGATCTGTCTTA	0.403000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									39			27		0	0	0.005443	0	0
BIRC6	57448	broad.mit.edu	37	2	32706501	32706501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:32706501C>T	uc010ezu.3	+	37	7656	c.7522C>T	c.(7522-7524)Ctt>Ttt	p.L2508F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2508					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.P2507H(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAAGGACCCTCTTGCAGCCAA	0.428000														7			23		0	0	0.001882	0	0
CAPN11	11131	broad.mit.edu	37	6	44145010	44145010	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:44145010C>T	uc003owt.1	+	11	1307	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	CAPN11_uc011dvn.2_Silent_p.I77I	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	423	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTTTAAGATCTCTCTTCCTG	0.607000														6			9		0	0	0.004482	0	0
MYH4	4622	broad.mit.edu	37	17	10358975	10358975	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10358975C>T	uc002gmn.3	-	18	2241	c.2130G>A	c.(2128-2130)agG>agA	p.R710R	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	710	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						GGAAGCCTTTCCTGCAGATGC	0.453000														40			13		0	0	0.003163	0	0
GRM8	2918	broad.mit.edu	37	7	126882983	126882983	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:126882983G>A	uc003vlr.2	-	0	587	c.276C>T	c.(274-276)ctC>ctT	p.L92L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.L92L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	92					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTTGGAAAGGAGATCAGGGT	0.502000										HNSCC(24;0.065)				10			18		0	0	0.001523	0	0
RIMS2	9699	broad.mit.edu	37	8	104948865	104948865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:104948865G>A	uc003yls.3	+	10	2037	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	RIMS2_uc003ylp.3_Missense_Mutation_p.R821Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R613Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R660Q|RIMS2_uc003ylt.3_Missense_Mutation_p.R206Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	883					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.R613Q(3)|p.R888Q(3)|p.R599Q(3)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCCACCGAAGAGAATTT	0.388000										HNSCC(12;0.0054)				46			34		0	0	0.003271	0	0
NBPF1	55672	broad.mit.edu	37	1	16895665	16895665	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:16895665G>A	uc009vos.1	-	22	3405	c.2517C>T	c.(2515-2517)ctC>ctT	p.L839L	NBPF1_uc009vot.1_Silent_p.L297L|NBPF1_uc001ayz.1_Silent_p.L297L|NBPF1_uc010oce.1_Silent_p.L568L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	839	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGAATTGAGAGAGTCGAAT	0.507000														203			51		0	0	0.003610	0	0
ANKRD20A3	441425	broad.mit.edu	37	9	67951980	67951980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:67951980G>A	uc004aeu.3	+	8	1055	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ANKRD20A3_uc010mnn.3_Missense_Mutation_p.E314K	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	315																	ATCTTCGCATGAAAAAGGAAA	0.413000														131			22		0	0	0.006230	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396503	136396503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:136396503C>T	uc002tuo.3	+	13	1400	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y	R3HDM1_uc010fni.3_Missense_Mutation_p.H342Y|R3HDM1_uc002tup.3_Missense_Mutation_p.H288Y|R3HDM1_uc010zbh.2_Missense_Mutation_p.H176Y	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	344							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TACAAATAGCCATCAAAGCAG	0.398000														72			32		0	0	0.002445	0	0
CPNE4	131034	broad.mit.edu	37	3	131624108	131624108	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:131624108C>T	uc011blq.2	-	2	344	c.234_splice	c.e2+1	p.E78_splice	CPNE4_uc003eok.3_Splice_Site_p.E60_splice|CPNE4_uc003eol.3_Splice_Site_p.E78_splice|CPNE4_uc003eom.3_Splice_Site_p.E60_splice	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	60	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACATGCCTACCTCAAACCACT	0.438000														50			46		0	0	0.003610	0	0
TMEM39B	55116	broad.mit.edu	37	1	32560520	32560520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:32560520G>A	uc010ogv.2	+	6	1209	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Missense_Mutation_p.G228S|TMEM39B_uc001buf.4_Missense_Mutation_p.G156S|TMEM39B_uc010ogw.2_Missense_Mutation_p.G156S	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	Homo sapiens transmembrane protein 39B (TMEM39B), mRNA.	355						integral to membrane		p.G228R(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGCCCATCTGGGCTGTTGGCA	0.627000														17			11		0	0	0.000978	0	0
TOP1MT	116447	broad.mit.edu	37	8	144399903	144399903	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:144399903G>A	uc003yxz.3	-	9	1339	c.1320C>T	c.(1318-1320)gcC>gcT	p.A440A	TOP1MT_uc011lkd.2_Silent_p.A342A|TOP1MT_uc011lke.2_Silent_p.A342A|TOP1MT_uc011lkf.2_Silent_p.A235A	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	440					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGCGCGTCAGGGCCCGCAGCT	0.697000														14			7		0	0	0.008291	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351666	128351666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:128351666G>A	uc003kuy.3	+	5	1454	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	SLC27A6_uc003kuz.3_Missense_Mutation_p.G353E	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	353					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GACAGATTTGGAAATATAAAG	0.378000														46			19		0	0	0.001523	0	0
H3F3B	3021	broad.mit.edu	37	17	73775010	73775010	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73775010A>T	uc002jpl.3	-	2	296	c.163T>A	c.(163-165)Tat>Aat	p.Y55N		NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	55					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		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)			GACTTCTGATAACGACGAATC	0.632000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			9		0	0	0.006214	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386733	56386733	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56386733G>A	uc002ivx.4	-	21	4771	c.3900C>T	c.(3898-3900)ccC>ccT	p.P1300P	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Silent_p.P1240P|BZRAP1_uc010wnt.2_Silent_p.P1300P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1300						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAAAGGGGTCGGGCTGGGACT	0.582000														36			11		0	0	0.001368	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474529	84474529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:84474529G>A	uc010chj.3	+	13	1365	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E426K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E443K|ATP2C2_uc002fhz.3_Missense_Mutation_p.E275K	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	426					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTCATTAAGGAATTTTCCAA	0.502000														11			18		0	0	0.008871	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														49			5		0	0	0.000602	0	0
ECSIT	51295	broad.mit.edu	37	19	11624692	11624692	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:11624692G>A	uc002msb.3	-	2	575	c.441C>T	c.(439-441)atC>atT	p.I147I	ECSIT_uc010dyc.2_Silent_p.I147I|ECSIT_uc010dyd.3_Silent_p.I147I|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	147					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGATGCGCTGGATGATGTTGC	0.612000														22			4		0	0	0.000248	0	0
V_alpha_immunoglobulin	0	broad.mit.edu	37	14	22675459	22675459	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:22675459G>A	uc001wdk.2	+	0	42	c.30G>A	c.(28-30)ggG>ggA	p.G10G	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_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406.																		TACTCCTAGGGATATTGGGGT	0.453000														48			15		0	0	0.001523	0	0
ZNF283	284349	broad.mit.edu	37	19	44351370	44351370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:44351370C>T	uc002oxr.4	+	6	885	c.617C>T	c.(616-618)tCc>tTc	p.S206F	ZNF283_uc002oxp.4_Missense_Mutation_p.S67F	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				ACAGAGAAATCCTATGTTTGT	0.338000														40			13		0	0	0.001368	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105454852	105454852	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:105454852T>C	uc001tlc.3	-	9	1175	c.1048_splice	c.e9-1	p.V350_splice	ALDH1L2_uc009zuo.3_Splice_Site|ALDH1L2_uc009zup.3_Splice_Site	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	350	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CCAGATGACCTACACAAAAAG	0.433000														17			8		0	0	0.003080	0	0
ADCY1	107	broad.mit.edu	37	7	45650040	45650040	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:45650040G>A	uc003tne.4	+	2	870	c.852G>A	c.(850-852)ctG>ctA	p.L284L	ADCY1_uc003tnd.3_Silent_p.L59L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	284					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGACTTCCTGAAGCCCCCTG	0.602000														40			34		0	0	0.005524	0	0
THSD7B	80731	broad.mit.edu	37	2	137928389	137928389	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:137928389T>C	uc002tva.1	+	5	1511	c.1511T>C	c.(1510-1512)gTt>gCt	p.V504A	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.V394A	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGAGTCTGTTCCTTGTGAG	0.498000														18			25		0	0	0.003330	0	0
DNAJC10	54431	broad.mit.edu	37	2	183623904	183623904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:183623904C>T	uc002uow.1	+	20	2430	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.S626F|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	672	Thioredoxin 4.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCTCAAGTATCCACAGATCTA	0.328000														28			10		0	0	0.006214	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864607	30864607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:30864607C>T	uc003ahy.3	-	4	400	c.311G>A	c.(310-312)gGg>gAg	p.G104E	SEC14L3_uc003ahz.3_Missense_Mutation_p.G27E|SEC14L3_uc003aia.3_Missense_Mutation_p.G45E|SEC14L3_uc003aib.3_Missense_Mutation_p.G45E	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	104	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATCAAGTGGCCCAATGATGTC	0.552000														36			32		0	0	0.004878	0	0
TRANK1	9881	broad.mit.edu	37	3	36898642	36898642	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:36898642C>T	uc003cgj.3	-	11	2687	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	813					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						GGATGATTTTCTTCTTGATGA	0.507000														105			72		0	0	0.003610	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51656392	51656392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51656392G>A	uc002pvv.1	+	6	1363	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	SIGLEC7_uc002pvw.1_Missense_Mutation_p.E339K|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_3'UTR	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	432					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.E431E(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAGGGGAGGAAAGAGAGAT	0.532000														31			35		0	0	0.004289	0	0
USP6	9098	broad.mit.edu	37	17	5042908	5042908	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:5042908C>T	uc002gau.1	+	21	3667	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	USP6_uc002gav.1_Silent_p.V479V|USP6_uc010ckz.1_Silent_p.V162V|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	479					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCTGCTGGGTCCGTGCCATAT	0.592000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									47			13		0	0	0.003163	0	0
IRX6	79190	broad.mit.edu	37	16	55361545	55361546	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:55361545_55361546CC>TT	uc002ehy.3	+	3	994_995	c.461_462CC>TT	c.(460-462)acc>aTT	p.T154I	IRX6_uc002ehx.3_Missense_Mutation_p.T154I|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAGAACGCGACCCGGGAGACCA	0.569000														19			7		0	0	0.004672	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169579	33169579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:33169579C>T	uc003odf.3	+	2	586	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.P157S|SLC39A7_uc011dqv.2_Missense_Mutation_p.P32S|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	157						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTCCTTATCCCCGTGGAGTC	0.547000														39			36		0	0	0.002836	0	0
URI1	8725	broad.mit.edu	37	19	30502112	30502112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:30502112C>T	uc002nsr.3	+	8	1456	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S	URI1_uc002nsq.3_Missense_Mutation_p.P365S|URI1_uc002nss.3_Missense_Mutation_p.P343S|URI1_uc002nst.3_Missense_Mutation_p.P307S	NM_003796	NP_003787	O94763	RMP_HUMAN	Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA.	383					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CCAGGAGCTGCCGACCATCAG	0.512000														62			48		0	0	0.003610	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670802	131670802	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:131670802G>A	uc004bwl.4	+	2	1613	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L	LRRC8A_uc010myp.3_Silent_p.L453L|LRRC8A_uc010myq.3_Silent_p.L453L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	453					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						TCCTCAAGCTGGAGCTGATCC	0.612000														9			11		0	0	0.000978	0	0
SYT17	51760	broad.mit.edu	37	16	19236122	19236122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:19236122C>T	uc002dfw.3	+	6	1521	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	SYT17_uc002dfx.3_Missense_Mutation_p.P336L|SYT17_uc002dfy.3_Missense_Mutation_p.P393L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	397	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTCAAAGTTCCCCAAGAAGAA	0.453000														49			27		0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9083510	9083510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9083510C>T	uc002mkp.3	-	0	8509	c.8305G>A	c.(8305-8307)Gag>Aag	p.E2769K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2769	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						GCCGTTGTCTCTGAGTTTTCA	0.498000														16			21		0	0	0.008871	0	0
PTPRT	11122	broad.mit.edu	37	20	41100959	41100959	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:41100959T>C	uc002xkg.3	-	7	1581	c.1397A>G	c.(1396-1398)aAc>aGc	p.N466S	PTPRT_uc010ggj.3_Missense_Mutation_p.N466S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	466	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCTCGGGGTTAGACAGCAA	0.597000														33			28		0	0	0.002096	0	0
LRRC66	339977	broad.mit.edu	37	4	52861881	52861881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:52861881G>A	uc003gzi.3	-	3	1314	c.1307C>T	c.(1306-1308)cCa>cTa	p.P436L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	436						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTCTGGGTGTGGTGTGTGCCC	0.552000														42			38		0	0	0.006230	0	0
GRM3	2913	broad.mit.edu	37	7	86415737	86415737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:86415737G>A	uc003uid.3	+	2	1728	c.629G>A	c.(628-630)tGg>tAg	p.W210*	GRM3_uc010lef.3_Nonsense_Mutation_p.W208*|GRM3_uc010leg.3_Nonsense_Mutation_p.W82*|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	210					synaptic transmission	integral to plasma membrane		p.N209N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCTTCAACTGGACCTACGTG	0.572000														28			26		0	0	0.007291	0	0
MYH8	4626	broad.mit.edu	37	17	10323467	10323467	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10323467C>T	uc002gmm.2	-	2	173	c.78G>A	c.(76-78)cgG>cgA	p.R26R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	26	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.R26W(1)|p.R26P(1)		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						GGGCCTCAATCCGCTCCTTTT	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					84			39		0	0	0.005524	0	0
COL5A1	1289	broad.mit.edu	37	9	137704451	137704451	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:137704451G>A	uc004cfe.3	+	48	4127	c.3745_splice	c.e48-1	p.G1249_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1249	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)		CTTTTCCTAGGGCCCCCCGGG	0.622000														6			4		0	0	0.000248	0	0
C1S	716	broad.mit.edu	37	12	7175788	7175788	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:7175788C>T	uc001qsj.3	+	13	1943	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	C1S_uc001qsk.3_Silent_p.S408S|C1S_uc001qsl.3_Silent_p.S408S|C1S_uc009zfr.3_Silent_p.S241S|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	408	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTAACGGGAGCTGGGTGAATG	0.582000														50			13		0	0	0.003163	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739670	46739670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:46739670C>T	uc021vgv.1	-	0	181	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ATP6V1E2_uc002ruy.3_Missense_Mutation_p.E61K	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	61					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			ATCTGCTTCTCCTTTTTCTCA	0.458000														67			26		0	0	0.003330	0	0
TTC3	7267	broad.mit.edu	37	21	38538328	38538329	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:38538328_38538329CC>TT	uc002yvz.3	+	32	3917_3918	c.3812_3813CC>TT	c.(3811-3813)ccc>cTT	p.P1271L	TTC3_uc011aee.1_Missense_Mutation_p.P961L|TTC3_uc002ywa.3_Missense_Mutation_p.P1271L|TTC3_uc002ywb.3_Missense_Mutation_p.P1271L|TTC3_uc010gnf.3_Missense_Mutation_p.P1036L|TTC3_uc002ywc.3_Missense_Mutation_p.P961L|TTC3_uc002ywd.1_Missense_Mutation_p.P335L	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1271					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATGGGCAACCCAAAGGGGTCT	0.465000														37			57		0	0	0.004672	0	0
SERPINA6	866	broad.mit.edu	37	14	94772500	94772500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94772500C>T	uc001ycv.3	-	3	1044	c.940G>A	c.(940-942)Gat>Aat	p.D314N	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	314					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCCAGCACATCTCCGAGGTCA	0.527000														38			12		0	0	0.002450	0	0
XIST	7503	broad.mit.edu	37	X	73066500	73066500	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:73066500G>A	uc004ebm.1	-	0		c.6089C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TGCTGGAAGGGAAAAGTGGGG	0.473000														18			8		0	0	0.004482	0	0
RAB33B	83452	broad.mit.edu	37	4	140375442	140375442	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:140375442C>T	uc003ihv.3	+	0	482	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_031296	NP_112586	Q9H082	RB33B_HUMAN	Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA.	31					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					CTGCCCGCTCCCGCATCTTCA	0.627000														9			10		0	0	0.001368	0	0
TACC2	10579	broad.mit.edu	37	10	123845148	123845148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123845148C>T	uc001lfv.3	+	3	3493	c.3133C>T	c.(3133-3135)Cct>Tct	p.P1045S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1045S|TACC2_uc010qtv.2_Missense_Mutation_p.P1045S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1045						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)				GGAGGCCCCACCTTGTCAGCC	0.617000														12			14		0	0	0.001855	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272769	81272769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:81272769G>A	uc009xrx.3	+	0	413	c.364G>A	c.(364-366)Gag>Aag	p.E122K	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	122					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCTTGGCAAGGAGATTGAGCA	0.547000														64			16		0	0	0.004007	0	0
KANSL2	54934	broad.mit.edu	37	12	49072876	49072876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:49072876C>T	uc001rrz.2	-	2	1081	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K	KANSL2_uc001rrw.2_Intron|KANSL2_uc001rrx.2_Missense_Mutation_p.R163K|KANSL2_uc001rry.2_Intron	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	163																	AGGGTCACCTCTCCATGTCTG	0.468000														17			8		0	0	0.006214	0	0
DST	667	broad.mit.edu	37	6	56507426	56507426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:56507426C>T	uc003pcy.4	-	0	269	c.161G>A	c.(160-162)gGa>gAa	p.G54E	DST_uc021zay.1_Intron|DST_uc011dxl.1_Intron|DST_uc021zaz.1_Intron|DST_uc021zax.1_Missense_Mutation_p.G54E|DST_uc003pdc.4_Missense_Mutation_p.G54E|DST_uc003pdd.4_Missense_Mutation_p.G54E|DST_uc003pde.2_Intron	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATACCTGTGTCCATCAAAGGA	0.413000														21			14		0	0	0.002450	0	0
KRT73	319101	broad.mit.edu	37	12	53005026	53005026	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:53005026G>A	uc001sas.3	-	5	1107	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	358	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCAGTCTTTGGATGAGACGG	0.552000														22			18		0	0	0.001523	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365775	7365776	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7365775_7365776GG>AA	uc002ghc.4	-	3	2775_2776	c.2525_2526CC>TT	c.(2524-2526)tcc>tTT	p.S842F	ZBTB4_uc002ghd.4_Missense_Mutation_p.S842F	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGCGGTCTCGGAAGCTTCCTC	0.614000														9			13		0	0	0.004672	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25145914	25145914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:25145914C>T	uc001ise.1	-	5	463	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PRTFDC1_uc010qdd.1_Missense_Mutation_p.G145E|PRTFDC1_uc009xkm.1_Non-coding_Transcript	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	Homo sapiens phosphoribosyl transferase domain containing 1 (PRTFDC1), mRNA.	145					GMP salvage|IMP salvage|adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|grooming behavior|hypoxanthine metabolic process|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CCTCCCAGTTCCGACAACATC	0.408000														41			14		0	0	0.003163	0	0
OR14C36	127066	broad.mit.edu	37	1	248512199	248512199	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:248512199C>T	uc010pzl.2	+	0	123	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGGGAAACATCCTCATTGTGA	0.423000														50			59		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100684576	100684576	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100684576G>A	uc003uxp.1	+	2	9932	c.9879G>A	c.(9877-9879)gtG>gtA	p.V3293V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3293	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACAACGGTGGCCAGTTCTG	0.512000														191			167		0	0	0.003610	0	0
SLC16A4	9122	broad.mit.edu	37	1	110923715	110923715	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110923715A>T	uc001dzo.2	-	4	665	c.415T>A	c.(415-417)Tac>Aac	p.Y139N	SLC16A4_uc009wfs.2_Missense_Mutation_p.Y91N|SLC16A4_uc001dzp.2_Missense_Mutation_p.Y139N|SLC16A4_uc010ovy.2_Missense_Mutation_p.Y77N|SLC16A4_uc010ovz.2_Missense_Mutation_p.Y29N|SLC16A4_uc001dzq.2_Missense_Mutation_p.Y77N	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	139						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TTTTTGAAGTATTTGGTAGTT	0.388000														21			11		0	0	0.001368	0	0
PCDH19	57526	broad.mit.edu	37	X	99657660	99657660	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:99657660G>A	uc010nmz.3	-	2	4154	c.2478C>T	c.(2476-2478)cgC>cgT	p.R826R	PCDH19_uc004efw.4_Silent_p.R779R|PCDH19_uc004efx.4_Silent_p.R779R	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	826					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCTCAGAGCGGCGGCAGCCCA	0.552000														0			14		0	0	0.001855	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546248	112546248	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:112546248C>T	uc003dzi.1	-	2	622	c.396G>A	c.(394-396)ggG>ggA	p.G132G	CD200R1L_uc010hqf.1_Silent_p.G111G|CD200R1L_uc011bhw.1_Silent_p.G111G	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	132	Ig-like V-type.					integral to membrane	receptor activity	p.D131N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GATGGAAATTCCCATCAGGTG	0.463000														45			37		0	0	0.006999	0	0
DUS1L	64118	broad.mit.edu	37	17	80020802	80020802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80020802G>A	uc002kdq.3	-	3	864	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	DUS1L_uc002kdp.3_Missense_Mutation_p.R18C|DUS1L_uc002kdr.3_Missense_Mutation_p.R149C|DUS1L_uc010wvi.1_Missense_Mutation_p.R132C	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	149					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGAAGACACGGATTTTGCAC	0.607000														31			9		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	22	22758942	22758942	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:22758942G>A	uc021wml.1	+	61		c.6732G>A								Parts of antibodies, mostly variable regions.																		ATTCCTGACCGATTCTCTGGC	0.542000														53			50		0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78582399	78582399	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:78582399T>C	uc001syp.3	+	32	6070	c.5897T>C	c.(5896-5898)tTc>tCc	p.F1966S	NAV3_uc001syo.3_Missense_Mutation_p.F1944S|NAV3_uc010sub.2_Missense_Mutation_p.F1423S|NAV3_uc009zsf.3_Missense_Mutation_p.F775S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1966						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D1966N(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAATATGTATTCCGAATTGAT	0.378000										HNSCC(70;0.22)				40			23		0	0	0.004656	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134174	233134174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:233134174C>T	uc001hvl.2	-	31	5849	c.5614G>A	c.(5614-5616)Gat>Aat	p.D1872N	PCNXL2_uc001hvk.1_Missense_Mutation_p.D524N|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1872						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCATTGCAATCCTTCCGCATC	0.587000														23			18		0	0	0.001882	0	0
UNC5D	137970	broad.mit.edu	37	8	35544065	35544065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:35544065G>A	uc003xjr.2	+	6	1250	c.922G>A	c.(922-924)Gat>Aat	p.D308N	UNC5D_uc003xjs.2_Missense_Mutation_p.D303N|UNC5D_uc003xjt.1_Missense_Mutation_p.D77N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	308	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTTGAAGTGGATGGGAGCTG	0.517000														18			8		0	0	0.006214	0	0
MECOM	2122	broad.mit.edu	37	3	168833510	168833510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:168833510G>A	uc011bpj.1	-	7	2553	c.2150C>T	c.(2149-2151)tCg>tTg	p.S717L	MECOM_uc010hwk.1_Missense_Mutation_p.S552L|MECOM_uc003ffj.3_Missense_Mutation_p.S594L|MECOM_uc003ffi.3_Missense_Mutation_p.S529L|MECOM_uc011bpi.1_Missense_Mutation_p.S530L|MECOM_uc003ffn.3_Missense_Mutation_p.S529L|MECOM_uc003ffk.2_Missense_Mutation_p.S529L|MECOM_uc003ffl.2_Missense_Mutation_p.S689L|MECOM_uc011bpk.1_Missense_Mutation_p.S529L|MECOM_uc010hwn.2_Missense_Mutation_p.S717L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAAAGGTAACGATCTCAAGTC	0.438000														21			30		0	0	0.006320	0	0
UBE2U	148581	broad.mit.edu	37	1	64672498	64672498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:64672498C>T	uc001dbn.1	+	2	444	c.200C>T	c.(199-201)cCt>cTt	p.P67L		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	67							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						AACTATGCTCCTCCAGTTGTG	0.299000														28			13		0	0	0.004007	0	0
PAN3	255967	broad.mit.edu	37	13	28830518	28830519	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:28830518_28830519CC>TT	uc001urz.3	+	6	1242_1243	c.1090_1091CC>TT	c.(1090-1092)cca>TTa	p.P364L	PAN3_uc010tdo.1_Missense_Mutation_p.P364L|PAN3_uc001ury.3_Missense_Mutation_p.P52L|PAN3_uc001urx.3_Missense_Mutation_p.P164L	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	364	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAGTCACACTCCAAATCCAGCA	0.460000														58			47		0	0	0.004672	0	0
MICU1	10367	broad.mit.edu	37	10	74267951	74267951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:74267951G>A	uc001jtb.2	-	5	797	c.614C>T	c.(613-615)tCc>tTc	p.S205F	MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Intron|MICU1_uc010qjw.2_5'UTR|MICU1_uc009xqo.2_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	205					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										GTCTGAAAAGGATATGAGCCC	0.363000														7			4		0	0	0.000248	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350700	79350700	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:79350700G>A	uc002beq.3	-	2	882	c.507C>T	c.(505-507)atC>atT	p.I169I	RASGRF1_uc002bep.3_Silent_p.I169I|RASGRF1_uc010blm.1_Silent_p.I91I|RASGRF1_uc002ber.4_Silent_p.I169I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	169					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTCGATCTCGATCTCCCCAT	0.602000														22			36		0	0	0.008740	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60369005	60369005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:60369005G>A	uc003jsp.4	+	1	308	c.181G>A	c.(181-183)Gac>Aac	p.D61N	NDUFAF2_uc003jso.4_Intron	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	61						membrane|mitochondrion	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				AAAAGAAGTAGACTATGAAGC	0.313000														96			41		0	0	0.003610	0	0
C16orf92	146378	broad.mit.edu	37	16	30035536	30035536	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:30035536G>A	uc002dvr.2	+	3	328	c.321G>A	c.(319-321)caG>caA	p.Q107Q	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Silent_p.Q129Q	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	129						integral to membrane				breast(3)|lung(3)	6						GAAACTTCCAGAAAGGGGCCT	0.587000														14			11		0	0	0.001855	0	0
ABCA8	10351	broad.mit.edu	37	17	66883609	66883609	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:66883609G>A	uc002jhq.3	-	24	3523	c.3183C>T	c.(3181-3183)tcC>tcT	p.S1061S	ABCA8_uc002jhp.3_Silent_p.S1021S|ABCA8_uc010wqq.2_Silent_p.S1061S|ABCA8_uc010wqr.2_Silent_p.S1000S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1021						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)					AAGCAGAAGGGGAGAGTCCGG	0.433000														145			59		0	0	0.003610	0	0
THEG	51298	broad.mit.edu	37	19	375747	375747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:375747G>A	uc002lol.3	-	0	267	c.224C>T	c.(223-225)cCg>cTg	p.P75L	THEG_uc002lom.3_Missense_Mutation_p.P75L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	75					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		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)		CAGGGTCTCCGGGAACTCCTC	0.602000														41			38		0	0	0.006999	0	0
VIL1	7429	broad.mit.edu	37	2	219313997	219313997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219313997G>A	uc002vib.3	+	18	2444	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	VIL1_uc010zke.2_Missense_Mutation_p.A497T|VIL1_uc002via.3_Missense_Mutation_p.A808T	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	808	HP.|Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCAGCTGCCTTCTCTGC	0.478000														67			97		0	0	0.003610	0	0
PDE8B	8622	broad.mit.edu	37	5	76707948	76707948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:76707948C>T	uc003kfa.3	+	15	1645	c.1600C>T	c.(1600-1602)Ctt>Ttt	p.L534F	PDE8B_uc003kfd.3_Missense_Mutation_p.L487F|PDE8B_uc003kfe.3_Missense_Mutation_p.L437F|PDE8B_uc003kfb.3_Missense_Mutation_p.L514F|PDE8B_uc003kfc.3_Missense_Mutation_p.L479F	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	534					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TCACAGTCACCTTGCAATGCC	0.453000														187			101		0	0	0.003610	0	0
INSRR	3645	broad.mit.edu	37	1	156823977	156823977	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156823977G>A	uc010pht.2	-	1	503	c.204C>T	c.(202-204)ttC>ttT	p.F68F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.F68F	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	68					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGGCCGCGGAAGTCCTCCC	0.632000														15			10		0	0	0.000978	0	0
FSIP2	401024	broad.mit.edu	37	2	186672248	186672249	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:186672248_186672249CC>TT	uc002upl.3	+	16	18482_18483	c.18482_18483CC>TT	c.(18481-18483)acc>aTT	p.T6161I	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TATGTAGAAACCTTACAATCTG	0.322000														98			33		0	0	0.004672	0	0
DEPDC7	91614	broad.mit.edu	37	11	33050310	33050310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:33050310G>A	uc001mub.3	+	3	846	c.754G>A	c.(754-756)Ggg>Agg	p.G252R	DEPDC7_uc001muc.3_Missense_Mutation_p.G243R	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.	252					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TCTGGATCGAGGGATTCTCAA	0.393000														33			26		0	0	0.001786	0	0
TRPC4	7223	broad.mit.edu	37	13	38211283	38211283	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:38211283C>T	uc010abx.3	-	10	2941	c.2706G>A	c.(2704-2706)ctG>ctA	p.L902L	TRPC4_uc010abv.3_Silent_p.L477L|TRPC4_uc001uwt.3_Silent_p.L813L|TRPC4_uc001uws.3_Silent_p.L897L|TRPC4_uc010tey.2_Silent_p.L756L|TRPC4_uc010abw.3_Silent_p.L724L|TRPC4_uc010aby.3_Silent_p.L748L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	897	Binds to ITPR1, ITPR2 and ITPR3.				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			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)		CGGGAATGCTCAGGTCACCCC	0.468000														28			25		0	0	0.005443	0	0
PRB2	653247	broad.mit.edu	37	12	11548455	11548455	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:11548455C>T	uc010shk.1	-	0	44	c.9G>A	c.(7-9)ttG>ttA	p.L3L		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)			ACAGCAGAATCAACAGCATCT	0.512000														25			25		0	0	0.002836	0	0
THSD7B	80731	broad.mit.edu	37	2	137872823	137872824	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:137872823_137872824CC>TT	uc002tva.1	+	3	1236_1237	c.1236_1237CC>TT	c.(1234-1239)gcccag>gcTTag	p.Q413*	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Nonsense_Mutation_p.Q303*	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTACTGTGCCCAGAGCGTACC	0.609000														4			6		0	0	0.004672	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829151	67829151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:67829151C>T	uc009xpn.1	-	14	2197	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E692K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	692					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCCCATATCTCAATCTCAGCA	0.398000														89			34		0	0	0.005524	0	0
COL22A1	169044	broad.mit.edu	37	8	139790603	139790604	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:139790603_139790604CC>TT	uc003yvd.3	-	14	2197_2198	c.1750_1751GG>AA	c.(1750-1752)gga>AAa	p.G584K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	584	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACAGGAGCTCCGACACGTCCA	0.535000										HNSCC(7;0.00092)				17			13		0	0	0.004672	0	0
KPNA6	23633	broad.mit.edu	37	1	32626295	32626295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:32626295C>T	uc010ogy.2	+	6	680	c.653C>T	c.(652-654)cCt>cTt	p.P218L	KPNA6_uc001bug.3_Missense_Mutation_p.P213L|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.P210L	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	213	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATCCTTAATCCTTTGTTAACG	0.463000														16			11		0	0	0.001368	0	0
BTN1A1	696	broad.mit.edu	37	6	26509300	26509300	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:26509300G>A	uc003nif.4	+	6	1536	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	493						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ACCTTTCTAAGGAGATCCCAT	0.547000														32			40		0	0	0.008740	0	0
FSIP1	161835	broad.mit.edu	37	15	39910064	39910064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:39910064G>A	uc001zki.3	-	10	1789	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	524										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAGAGTCTTCGACATAAAATA	0.398000														57			17		0	0	0.007413	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176468	140176468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140176468C>T	uc003lhd.2	+	0	2025	c.1919C>T	c.(1918-1920)gCt>gTt	p.A640V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A640V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A640V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	651	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)			CTAGACGAGGCTGACTCCCCT	0.622000														29			15		0	0	0.003163	0	0
NLRP12	91662	broad.mit.edu	37	19	54313568	54313569	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:54313568_54313569CC>TT	uc002qcj.4	-	2	1564_1565	c.1344_1345GG>AA	c.(1342-1347)ggggcc>ggAAcc	p.A449T	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.A449T|NLRP12_uc002qci.4_Missense_Mutation_p.A449T|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.A449T	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	449	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGCGCGGGGCCCCCGGCTTGG	0.619000														34			10		0	0	0.004672	0	0
ABCA4	24	broad.mit.edu	37	1	94512554	94512554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:94512554C>T	uc001dqh.3	-	18	2943	c.2839G>A	c.(2839-2841)Gac>Aac	p.D947N	ABCA4_uc010otn.1_Missense_Mutation_p.D873N	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	947	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCAGACGGTCCACAGCTGGC	0.537000														89			48		0	0	0.003610	0	0
RNF152	220441	broad.mit.edu	37	18	59483372	59483373	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:59483372_59483373CC>TT	uc002lih.1	-	1	736_737	c.324_325GG>AA	c.(322-327)aaggag>aaAAag	p.E109K	RNF152_uc021ula.1_Missense_Mutation_p.E109K	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	109					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGCGCACGCTCCTTGGAGATGG	0.624000														13			9		0	0	0.004672	0	0
ZNF536	9745	broad.mit.edu	37	19	31038939	31038939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:31038939C>T	uc002nsu.1	+	3	2551	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W	ZNF536_uc010edd.1_Missense_Mutation_p.R805W	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCGGGAGCGGCAGAACGG	0.537000														66			11		0	0	0.001368	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121776	117121776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:117121776C>T	uc003pxj.1	-	3	1541	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	GPRC6A_uc003pxk.1_Missense_Mutation_p.E332K|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	507					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTTTTTGTTTCCTGATCTGGG	0.423000														65			52		0	0	0.003610	0	0
KDM6B	23135	broad.mit.edu	37	17	7753485	7753486	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7753485_7753486CC>TT	uc002gix.3	+	2	2406_2407	c.1569_1570CC>TT	c.(1567-1572)tccctg>tcTTtg	p.523_524SL>SL	KDM6B_uc002giw.1_Silent_p.1221_1222SL>SL	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1221	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGGCGGGCTCCCTGCGGCTCAG	0.579000														6			7		0	0	0.004672	0	0
RASGRF2	5924	broad.mit.edu	37	5	80363978	80363978	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:80363978A>G	uc003kha.2	+	2	573	c.523A>G	c.(523-525)Atc>Gtc	p.I175V	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_5'Flank	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	175					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.I175T(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGACACAGAAATCGAAAGGCT	0.378000														30			15		0	0	0.004990	0	0
DLEC1	9940	broad.mit.edu	37	3	38163826	38163826	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:38163826G>A	uc003chp.1	+	35	5088	c.5067G>A	c.(5065-5067)tcG>tcA	p.S1689S	DLEC1_uc003cho.1_Missense_Mutation_p.G1731S|DLEC1_uc010hgv.1_Missense_Mutation_p.G1734S|DLEC1_uc003chr.1_Missense_Mutation_p.G802S|DLEC1_uc003chs.1_Silent_p.S246S	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	0					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)		AGGTGTGCTCGGTGAGAAGTC	0.642000														26			29		0	0	0.002836	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113587	55113588	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55113587_55113588CC>TT	uc003pcl.3	+	1	689_690	c.374_375CC>TT	c.(373-375)tcc>tTT	p.S125F	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.S60F	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	125					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.S125C(2)		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)			TTTGGACAGTCCCTTTGCAAAG	0.421000														120			20		0	0	0.004672	0	0
GSS	2937	broad.mit.edu	37	20	33517333	33517333	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:33517333T>A	uc002xbg.3	-	11	1252	c.1172A>T	c.(1171-1173)gAg>gTg	p.E391V	GSS_uc010zun.2_Missense_Mutation_p.E263V|GSS_uc010zuo.2_Missense_Mutation_p.E280V|GSS_uc010zup.2_Missense_Mutation_p.E322V|GSS_uc010gez.1_Missense_Mutation_p.E121V	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	391					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGAGGCCCTCTCCTCACTGTC	0.547000														111			78		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9085683	9085683	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9085683C>T	uc002mkp.3	-	0	6336	c.6132G>A	c.(6130-6132)agG>agA	p.R2044R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2044	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						TTGCATTCCTCCTACTGATTG	0.488000														60			52		0	0	0.003610	0	0
HPX	3263	broad.mit.edu	37	11	6461946	6461946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:6461946C>T	uc001mdg.2	-	1	159	c.98G>A	c.(97-99)gGg>gAg	p.G33E	HPX_uc009yfc.2_Non-coding_Transcript|HPX_uc010rai.1_Missense_Mutation_p.G33E	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	33	O-glycosylated at one, two and three sites.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGCAACATTCCCATGGGCACT	0.507000														39			24		0	0	0.006320	0	0
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:123742403G>A	uc004bkv.3	-	27	3646	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1206					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.408000														49			11		0	0	0.008291	0	0
HYDIN	54768	broad.mit.edu	37	16	71012907	71012907	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:71012907C>T	uc002ezr.3	-	29	4696	c.4545G>A	c.(4543-4545)agG>agA	p.R1515R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1516										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTGTTTTTCCTGGCTTGAT	0.433000														22			7		0	0	0.003080	0	0
PLCB1	23236	broad.mit.edu	37	20	8769119	8769119	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:8769119C>T	uc002wnb.3	+	27	3138	c.3135C>T	c.(3133-3135)gtC>gtT	p.V1045V	PLCB1_uc010zrb.1_Silent_p.V944V|PLCB1_uc002wna.3_Silent_p.V1045V|PLCB1_uc002wnc.1_Silent_p.V944V|PLCB1_uc002wnd.1_Silent_p.V622V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1045					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGACGGATGTCGCAGAAGAGT	0.383000														9			9		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179457984	179457984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179457984C>T	uc021vsy.1	-	247	51472	c.51247G>A	c.(51247-51249)Gaa>Aaa	p.E17083K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E10778K|TTN_uc021vta.1_Missense_Mutation_p.E10711K|TTN_uc021vtb.1_Missense_Mutation_p.E10586K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18010	Ig-like 102.						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)			ACCCGGAATTCATACTGACAT	0.388000														69			27		0	0	0.005443	0	0
COL5A3	50509	broad.mit.edu	37	19	10106767	10106767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10106767C>T	uc002mmq.1	-	14	1594	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	503	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G503E(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCCTCCTCTCCTTTCAGACC	0.577000														85			20		0	0	0.001523	0	0
PLXNA1	5361	broad.mit.edu	37	3	126730864	126730864	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:126730864A>C	uc003ejg.3	+	8	2176	c.2176A>C	c.(2176-2178)Acc>Ccc	p.T726P		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	726					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.T703P(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAAACCCATCACCCTGGCCGC	0.652000														31			7		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	14	106963032	106963032	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106963032G>A	uc021ser.1	-	268		c.10698C>T								Parts of antibodies, mostly variable regions.																		ACTCTGTCCTGGAATTTCTGT	0.542000														64			66		0	0	0.003610	0	0
MCMDC2	157777	broad.mit.edu	37	8	67796106	67796106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:67796106G>A	uc003xwz.4	+	8	1121	c.950G>A	c.(949-951)gGg>gAg	p.G317E	MCMDC2_uc003xwv.3_Missense_Mutation_p.G317E|MCMDC2_uc011lev.2_Missense_Mutation_p.G317E|MCMDC2_uc011lew.2_Missense_Mutation_p.G248E|MCMDC2_uc011lex.2_Missense_Mutation_p.G75E|MCMDC2_uc003xwy.4_Missense_Mutation_p.G317E	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	317					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ACCCCTCCTGGGACTTACAAT	0.408000														21			26		0	0	0.007291	0	0
CCDC114	93233	broad.mit.edu	37	19	48801296	48801296	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:48801296A>C	uc002pir.2	-	11	2035	c.1352T>G	c.(1351-1353)cTt>cGt	p.L451R	CCDC114_uc002piq.2_Missense_Mutation_p.L260R|CCDC114_uc002pio.3_Missense_Mutation_p.L488R|CCDC114_uc002pis.1_Missense_Mutation_p.L131R	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	451										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTTCTTCGGAAGGTCCTCCAG	0.677000														23			6		0	0	0.001984	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142162	133142163	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:133142162_133142163CC>TT	uc003ytj.3	-	14	2190_2191	c.1965_1966GG>AA	c.(1963-1968)acggag>acAAag	p.E656K	KCNQ3_uc003yti.3_Missense_Mutation_p.E536K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E644K	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	656					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E656K(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTAATACTCCGTGACCTGCA	0.500000														64			23		0	0	0.004672	0	0
SMAD2	4087	broad.mit.edu	37	18	45395780	45395780	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:45395780G>A	uc002lcy.3	-	3	602	c.354C>T	c.(352-354)tcC>tcT	p.S118S	SMAD2_uc002lcz.3_Silent_p.S118S|SMAD2_uc010xdc.2_Silent_p.S88S|SMAD2_uc010xdd.1_Silent_p.S88S	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	118	MH1.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTTTTCGATGGGATACCTGGA	0.418000														5			16		0	0	0.004990	0	0
APIP	51074	broad.mit.edu	37	11	34909908	34909909	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:34909908_34909909CC>TT	uc010reo.1	-	5	595_596	c.443_444GG>AA	c.(442-444)cgg>cAA	p.R148Q	APIP_uc001mvs.2_Missense_Mutation_p.R131Q			Q96GX9	MTNB_HUMAN	Homo sapiens APAF1 interacting protein (APIP), mRNA.	131					L-methionine salvage|apoptosis	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TTTTAAACTCCCGTCCTGGAAA	0.391000														44			39		0	0	0.004672	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85554410	85554410	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:85554410C>T	uc001tac.3	+	23	4851	c.4740C>T	c.(4738-4740)gcC>gcT	p.A1580A		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1580										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGCGTCTAGCCTTATTCAAAA	0.353000														17			33		0	0	0.004289	0	0
SI	6476	broad.mit.edu	37	3	164737500	164737500	+	Missense_Mutation	SNP	G	A	A	rs138397431	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:164737500G>A	uc003fei.3	-	27	3376	c.3313C>T	c.(3313-3315)Cgc>Tgc	p.R1105C		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1105	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1105C(2)		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)	GATGGCAGGCGAGTCGATATT	0.383000										HNSCC(35;0.089)				37			27		0	0	0.008361	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646731	122646731	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:122646731G>A	uc003efz.1	-	7	1060	c.756C>T	c.(754-756)gtC>gtT	p.V252V	SEMA5B_uc011bju.1_Silent_p.V194V|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.V252V|SEMA5B_uc010hro.1_Silent_p.V194V|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	252	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGAAGTCGATGACCGTGGCTG	0.587000														27			23		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179399330	179399330	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179399330C>T	uc021vsy.1	-	306	94533	c.94308G>A	c.(94306-94308)ctG>ctA	p.L31436L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L25131L|TTN_uc021vta.1_Silent_p.L25064L|TTN_uc021vtb.1_Silent_p.L24939L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32363	Fibronectin type-III 129.						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)			GCACATATACCAGTGTTCCAA	0.438000														47			24		0	0	0.005443	0	0
PROS1	5627	broad.mit.edu	37	3	93611862	93611862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:93611862C>T	uc003drb.4	-	9	1411	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	PROS1_uc010hoo.3_Missense_Mutation_p.G226E|PROS1_uc003dqz.4_Missense_Mutation_p.G226E	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	357	Laminin G-like 1.		G -> R (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCAATCTTTCCACCACGAAG	0.403000														33			36		0	0	0.004289	0	0
FLNB	2317	broad.mit.edu	37	3	58135686	58135686	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:58135686G>A	uc003djj.2	+	36	6366	c.6201G>A	c.(6199-6201)ggG>ggA	p.G2067G	FLNB_uc010hne.2_Silent_p.G2098G|FLNB_uc003djk.2_Silent_p.G2056G|FLNB_uc010hnf.2_Silent_p.G2043G|FLNB_uc003djl.2_Silent_p.G1887G|FLNB_uc003djm.2_Silent_p.G1874G|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2067	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGTGCCTGGGGTTTATATCG	0.547000														68			60		0	0	0.003610	0	0
CASR	846	broad.mit.edu	37	3	121980560	121980560	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:121980560C>T	uc003eew.4	+	3	1116	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CASR_uc003eev.4_Silent_p.F226F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	226					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)	TTGAGAAATTCCGAGAGGAAG	0.522000														69			44		0	0	0.002522	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591657	70591657	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:70591657G>A	uc003xyl.3	-	7	2687	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	SLCO5A1_uc010lzb.3_Silent_p.F605F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F660F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	660						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGCTGTGATGAAGGTGACTA	0.423000														69			18		0	0	0.007413	0	0
SLC12A3	6559	broad.mit.edu	37	16	56901088	56901088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:56901088C>T	uc002ekd.4	+	1	418	c.389C>T	c.(388-390)cCc>cTc	p.P130L	SLC12A3_uc010ccm.3_Missense_Mutation_p.P130L|SLC12A3_uc010ccn.3_Missense_Mutation_p.P129L	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	130					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GAGAAGAACCCCGAGGAGCCA	0.657000														5			5		0	0	0.000602	0	0
PKP2	5318	broad.mit.edu	37	12	33030932	33030932	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:33030932G>A	uc001rlj.4	-	2	997	c.882C>T	c.(880-882)tcC>tcT	p.S294S	PKP2_uc001rlk.4_Silent_p.S294S|PKP2_uc010skj.2_Silent_p.S294S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	294					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCTGTGGAAGGAGCTCTGAT	0.687000														22			7		0	0	0.001984	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172563838	172563839	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:172563838_172563839CC>TT	uc002uha.1	+	4	451_452	c.286_287CC>TT	c.(286-288)cca>TTa	p.P96L	DYNC1I2_uc002uhb.1_Missense_Mutation_p.P90L|DYNC1I2_uc010zds.1_Missense_Mutation_p.P108L|DYNC1I2_uc002uhc.3_Missense_Mutation_p.P90L|DYNC1I2_uc002uhd.1_Missense_Mutation_p.P90L|DYNC1I2_uc002uhe.1_Missense_Mutation_p.P96L|DYNC1I2_uc002uhf.1_Missense_Mutation_p.P90L|DYNC1I2_uc010zdt.1_Missense_Mutation_p.P108L|DYNC1I2_uc002uhg.1_Missense_Mutation_p.P11L	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	96					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGTGAGCACTCCAAGTGAAGCT	0.450000														38			21		0	0	0.004672	0	0
GPR141	353345	broad.mit.edu	37	7	37780062	37780062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:37780062C>T	uc003tfm.1	+	0	67	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	23						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTAATCAGCCTCTACTTCAT	0.502000														65			53		0	0	0.003610	0	0
CES5A	221223	broad.mit.edu	37	16	55893542	55893542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:55893542C>T	uc021tir.1	-	8	1206	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	CES5A_uc002eip.2_Missense_Mutation_p.D325N|CES5A_uc002eio.2_Missense_Mutation_p.D325N|CES5A_uc002eiq.2_Missense_Mutation_p.D86N|CES5A_uc002eir.2_Missense_Mutation_p.D219N	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	325						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.K353K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GACAATAGATCTAGAGGCTCA	0.398000														15			14		0	0	0.001855	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406388	38406388	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38406388C>T	uc001izk.3	+	7	1139	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ZNF37A_uc001izl.3_Silent_p.F103F|ZNF37A_uc001izm.3_Silent_p.F103F	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	103						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAAAATGTTTCTGTGATGAAA	0.318000														91			68		0	0	0.003610	0	0
SSH2	85464	broad.mit.edu	37	17	27958398	27958398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:27958398G>A	uc002heo.1	-	14	3733	c.3733C>T	c.(3733-3735)Cag>Tag	p.Q1245*	SSH2_uc010wbh.1_Nonsense_Mutation_p.Q1272*	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	1245					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCCTGCCTGGAAAACCACT	0.512000														34			31		0	0	0.003271	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192468	132192468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:132192468G>A	uc003vra.4	-	1	1214	c.985C>T	c.(985-987)Cat>Tat	p.H329Y	PLXNA4_uc003vrc.2_Missense_Mutation_p.H329Y|PLXNA4_uc003vrb.3_Missense_Mutation_p.H329Y	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	329	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCATCTGGATGGACTCCAAGG	0.592000														25			21		0	0	0.001882	0	0
INSRR	3645	broad.mit.edu	37	1	156821680	156821680	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156821680C>T	uc010pht.2	-	3	1240	c.941_splice	c.e3+1	p.S314_splice	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Splice_Site_p.S314_splice	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	314					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTACACTCACCTGCTGCTATT	0.647000														11			3		0	0	0.000248	0	0
CRB1	23418	broad.mit.edu	37	1	197407739	197407739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:197407739G>A	uc001gtz.3	+	9	4021	c.3812G>A	c.(3811-3813)gGa>gAa	p.G1271E	CRB1_uc010poz.2_Missense_Mutation_p.G1247E|CRB1_uc009wza.3_Missense_Mutation_p.G1159E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G735E|CRB1_uc010ppd.2_Missense_Mutation_p.G752E|CRB1_uc001gub.1_Missense_Mutation_p.G920E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1271	EGF-like 18.				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						TGCTACAATGGAGGCAACTGC	0.443000														34			35		0	0	0.003271	0	0
WIPI2	26100	broad.mit.edu	37	7	5254224	5254224	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:5254224C>T	uc003snv.3	+	3	486	c.270C>T	c.(268-270)atC>atT	p.I90I	WIPI2_uc003snw.3_Silent_p.I90I|WIPI2_uc003snx.3_Silent_p.I72I|WIPI2_uc003sny.3_Silent_p.I72I|WIPI2_uc010ksv.3_5'UTR|WIPI2_uc003snz.3_Silent_p.I31I|WIPI2_uc003soa.3_Silent_p.I31I	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	90					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TAGTGGCCATCGTCAGCCTTA	0.473000														58			19		0	0	0.008871	0	0
OVCH2	341277	broad.mit.edu	37	11	7720302	7720302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:7720302G>A	uc010rbf.2	-	7	920	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CCCACCTCTGGAGCTCTTTCT	0.468000														8			8		0	0	0.008291	0	0
LACRT	90070	broad.mit.edu	37	12	55025624	55025624	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55025624C>G	uc001sgi.1	-	4	292	c.254_splice	c.e4-1	p.K85_splice		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	85					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ACTATGGATTCTAATTTTGGA	0.478000														45			26		0	0	0.004656	0	0
C1orf105	92346	broad.mit.edu	37	1	172417667	172417667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:172417667C>T	uc001gik.3	+	2	392	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	65										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GATGTTTTATCTAAGGTACTA	0.338000														31			33		0	0	0.001786	0	0
USP45	85015	broad.mit.edu	37	6	99894322	99894322	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:99894322G>A	uc003ppx.2	-	13	1859	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Silent_p.D122D	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	442					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.D442D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TACATTTTCGGTCATGAATTA	0.323000														20			26		0	0	0.003954	0	0
PSME4	23198	broad.mit.edu	37	2	54175661	54175661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:54175661G>A	uc002rxp.2	-	2	453	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	PSME4_uc010yop.1_Missense_Mutation_p.L19F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Missense_Mutation_p.L133F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	133					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTCTTGAAAGAAGTTCCTTT	0.348000														68			24		0	0	0.008361	0	0
C7	730	broad.mit.edu	37	5	40958352	40958353	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:40958352_40958353GG>AA	uc003jmh.3	+	10	1592_1593	c.1478_1479GG>AA	c.(1477-1479)ggg>gAA	p.G493E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCCTCGTAGGGAATCAAGCAG	0.485000														23			5		0	0	0.004672	0	0
OR2A25	392138	broad.mit.edu	37	7	143771481	143771481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143771481C>T	uc011ktx.2	+	0	169	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T56T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACTCCACACCCCCATGTACTT	0.577000														18			27		0	0	0.007291	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514491	161514491	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:161514491C>T	uc001gar.3	-	4	869	c.685_splice	c.e4+1	p.G229_splice	FCGR3A_uc001gas.3_Splice_Site_p.G228_splice|FCGR3A_uc001gat.4_Splice_Site_p.G193_splice|FCGR3A_uc009wuh.3_Splice_Site_p.G192_splice|FCGR3A_uc009wui.3_Splice_Site_p.G193_splice	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	193					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATGTCTCACCTTGAGTGATG	0.507000														25			13		0	0	0.006122	0	0
FBXO40	51725	broad.mit.edu	37	3	121341642	121341642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:121341642C>T	uc003eeg.2	+	2	1576	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	456					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGGGGACTCCACGTGGAGCT	0.522000														29			5		0	0	0.001168	0	0
MMRN1	22915	broad.mit.edu	37	4	90857467	90857467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:90857467C>T	uc003hst.3	+	5	2707	c.2636C>T	c.(2635-2637)tCa>tTa	p.S879L	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.S621L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	879					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTATATTTCAGTTAAAAAA	0.353000														22			15		0	0	0.004990	0	0
FARSB	10056	broad.mit.edu	37	2	223484389	223484389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:223484389C>T	uc010zlq.1	-	14	1414	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	FARSB_uc002vne.1_Missense_Mutation_p.S440N|FARSB_uc002vnf.1_Missense_Mutation_p.S341N	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	440					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTTAGGATTACTTATGTGGAC	0.363000														25			5		0	0	0.001984	0	0
POLH	5429	broad.mit.edu	37	6	43578327	43578327	+	Missense_Mutation	SNP	C	T	T	rs147564503		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:43578327C>T	uc003ovq.4	+	9	1415	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	POLH_uc010jyu.2_Missense_Mutation_p.R247C|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_Missense_Mutation_p.R272C	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	371					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGTGAGCATTCGTGTACAAGG	0.502000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					36			6		0	0	0.001984	0	0
CLN3	1201	broad.mit.edu	37	16	28488892	28488892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:28488892G>A	uc002dpo.3	-	14	1585	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.S343F|CLN3_uc002dpm.3_Missense_Mutation_p.S367F|CLN3_uc010vcu.2_Missense_Mutation_p.S321F|CLN3_uc010vcv.2_Missense_Mutation_p.S397F|CLN3_uc002dpp.3_Missense_Mutation_p.S421F|CLN3_uc021tfs.1_Missense_Mutation_p.S268F|CLN3_uc002dpt.1_Missense_Mutation_p.S321F|CLN3_uc002dpq.1_Missense_Mutation_p.S373F|CLN3_uc010bye.1_Missense_Mutation_p.S404F|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.S294F|CLN3_uc002dpu.1_Missense_Mutation_p.S319F	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	421					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCCCGACAGGGAGATCCCCAG	0.607000														30			24		0	0	0.003330	0	0
KNDC1	85442	broad.mit.edu	37	10	135011270	135011270	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:135011270C>A	uc001llz.1	+	11	1905	c.1904C>A	c.(1903-1905)cCa>cAa	p.P635Q	KNDC1_uc001lma.1_Missense_Mutation_p.P570Q|KNDC1_uc001lmb.1_Missense_Mutation_p.P47Q	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	635					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGCCCAGCCCAGGTGGGGAC	0.647000														11			28		3.65163e-15	5.05287e-15	0.006320	1	0
MCAM	4162	broad.mit.edu	37	11	119182819	119182819	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:119182819G>A	uc001pwf.3	-	8	1115	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	362	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CACAGGTCAGGGTGAGGCTGC	0.637000														1			13		0	0	0.001855	0	0
PRX	57716	broad.mit.edu	37	19	40903633	40903633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40903633G>A	uc002onr.3	-	6	895	c.626C>T	c.(625-627)gCc>gTc	p.A209V	PRX_uc002onq.3_Missense_Mutation_p.A70V|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	209					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGCGGCGGCGGCCAGCCG	0.716000														0			7		0	0	0.004482	0	0
CHD2	1106	broad.mit.edu	37	15	93486111	93486111	+	Missense_Mutation	SNP	A	T	T	rs145479816		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:93486111A>T	uc002bsp.3	+	8	1440	c.865A>T	c.(865-867)Aat>Tat	p.N289Y	CHD2_uc002bsm.2_Missense_Mutation_p.N289Y|CHD2_uc002bsn.3_Missense_Mutation_p.N289Y|CHD2_uc002bso.1_Missense_Mutation_p.N289Y|CHD2_uc010urb.2_Missense_Mutation_p.N302Y|CHD2_uc010bof.1_Non-coding_Transcript	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	289	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.N289Y(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GATTGAAGCTAATGGCGACCC	0.428000														29			16		0	0	0.006122	0	0
NR5A2	2494	broad.mit.edu	37	1	200080397	200080397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:200080397G>A	uc001gvb.3	+	5	1384	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	NR5A2_uc001gvc.3_Missense_Mutation_p.R347Q|NR5A2_uc009wzh.3_Missense_Mutation_p.R353Q|NR5A2_uc010pph.2_Missense_Mutation_p.R321Q	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	393					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CACATTTACCGACAAGTGGTA	0.383000														20			27		0	0	0.002096	0	0
PLIN1	5346	broad.mit.edu	37	15	90210242	90210242	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:90210242C>T	uc010upx.1	-	7	1244	c.1134G>A	c.(1132-1134)ggG>ggA	p.G378G	PLIN1_uc002boh.2_Silent_p.G378G	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	378					triglyceride catabolic process	lipid particle	lipid binding	p.G378G(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						ACATGGCCCTCCCCTTGGTTG	0.612000														19			5		0	0	0.000602	0	0
CSMD1	64478	broad.mit.edu	37	8	2815238	2815238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:2815238C>T	uc022aqr.1	-	62	10184	c.9794G>A	c.(9793-9795)gGg>gAg	p.G3265E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2595E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1157E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3266	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTCTGTATCCCACTCCATGT	0.448000														10			6		0	0	0.004482	0	0
DPP6	1804	broad.mit.edu	37	7	154561253	154561253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:154561253C>T	uc003wlk.3	+	8	1139	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	DPP6_uc003wli.3_Missense_Mutation_p.P273L|DPP6_uc003wlm.3_Missense_Mutation_p.P275L|DPP6_uc011kvq.2_Missense_Mutation_p.P230L	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	337					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCCATCTACCCCACCGTGAAG	0.547000														13			9		0	0	0.004482	0	0
GPR98	84059	broad.mit.edu	37	5	90055296	90055296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:90055296C>T	uc003kju.3	+	57	12107	c.12011C>T	c.(12010-12012)tCc>tTc	p.S4004F	GPR98_uc003kjt.3_Missense_Mutation_p.S1710F|GPR98_uc003kjv.3_Missense_Mutation_p.S1604F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4004	Calx-beta 26.				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)		TTCAATATTTCCTTGATCAGT	0.373000														13			5		0	0	0.000602	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331320	100331320	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:100331320G>A	uc021sxl.1	-	1		c.1833C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GTGCTCACTGGGATTTTGCTC	0.577000														39			10		0	0	0.000978	0	0
RP1	6101	broad.mit.edu	37	8	55540061	55540061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:55540061G>A	uc003xsd.1	+	3	3767	c.3619G>A	c.(3619-3621)Gat>Aat	p.D1207N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1207					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTTCCAATAGATCTTTCTGC	0.428000														47			42		0	0	0.006230	0	0
SCAND3	114821	broad.mit.edu	37	6	28554089	28554089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:28554089C>T	uc003nlo.3	-	0	1024	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	136					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGTCTAGGTTCATCAAGCTCC	0.517000														204			38		0	0	0.002522	0	0
SLIT3	6586	broad.mit.edu	37	5	168096985	168096985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:168096985C>T	uc010jjg.3	-	34	4580	c.4160G>A	c.(4159-4161)gGa>gAa	p.G1387E	SLIT3_uc003mab.3_Missense_Mutation_p.G1380E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1380	EGF-like 8.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACATTTTCCATGGTGGCA	0.567000														10			6		0	0	0.001984	0	0
DPPA4	55211	broad.mit.edu	37	3	109052816	109052816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:109052816C>T	uc003dxq.4	-	1	134	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	DPPA4_uc011bho.2_Missense_Mutation_p.E27K|DPPA4_uc011bhp.1_Missense_Mutation_p.E27K	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	27						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGATCCTCTTCCCTCGACTTC	0.458000														24			18		0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100682048	100682048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100682048C>T	uc003uxp.1	+	2	7404	c.7351C>T	c.(7351-7353)Cct>Tct	p.P2451S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2451	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCTCACCTCCTAGTGAAGG	0.532000														275			96		0	0	0.003610	0	0
ADAD2	161931	broad.mit.edu	37	16	84224962	84224962	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:84224962C>T	uc002fhq.2	+	0	240	c.126C>T	c.(124-126)gcC>gcT	p.A42A	ADAD2_uc002fhr.2_Silent_p.A42A	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	42					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCCAAAGTGCCTgggggcccg	0.751000														5			3		0	0	0.000248	0	0
CNTN3	5067	broad.mit.edu	37	3	74383907	74383907	+	Silent	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:74383907A>C	uc003dpm.1	-	11	1727	c.1647T>G	c.(1645-1647)tcT>tcG	p.S549S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	549	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCTCAAAGTGAGATCCATCTT	0.428000														24			23		0	0	0.005443	0	0
TNFRSF8	943	broad.mit.edu	37	1	12170215	12170215	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:12170215G>A	uc001atq.3	+	5	852	c.630G>A	c.(628-630)agG>agA	p.R210R	TNFRSF8_uc010obc.2_Silent_p.R99R	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	210					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AACTGACGAGGGCTCCCGACT	0.617000														16			7		0	0	0.003080	0	0
SYNE2	23224	broad.mit.edu	37	14	64450546	64450546	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:64450546T>A	uc001xgl.3	+	17	2323	c.2093T>A	c.(2092-2094)gTt>gAt	p.V698D	SYNE2_uc001xgm.3_Missense_Mutation_p.V698D|SYNE2_uc021ruh.1_Missense_Mutation_p.V698D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	698					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAGCAACTGTTGAGTTTTCA	0.294000														13			15		0	0	0.002450	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82369428	82369428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:82369428C>T	uc003hmi.1	-	4	593	c.449G>A	c.(448-450)aGa>aAa	p.R150K	RASGEF1B_uc003hmj.1_Missense_Mutation_p.R149K|RASGEF1B_uc010ijq.1_Missense_Mutation_p.R108K	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	150	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GACATTCTTTCTGTATGTCTG	0.463000														54			19		0	0	0.008871	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537588	54537588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:54537588G>A	uc003dhf.3	+	4	499	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E57K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	151						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTGGGAAAGGAATTCATCTT	0.373000														46			51		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152280391	152280391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152280391G>A	uc001ezu.1	-	2	7007	c.6971C>T	c.(6970-6972)tCa>tTa	p.S2324L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2324	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)			TCCTGCACTTGATCTTGCCTG	0.552000									Ichthyosis					86			158		0	0	0.003610	0	0
ADD2	119	broad.mit.edu	37	2	70906069	70906069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:70906069G>A	uc021vjc.1	-	10	1415	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.R384C|ADD2_uc002sgz.3_Missense_Mutation_p.R384C|ADD2_uc010fdt.2_Missense_Mutation_p.R384C|ADD2_uc002shc.2_Missense_Mutation_p.R384C|ADD2_uc010fdu.2_Missense_Mutation_p.R400C	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	384					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.R384G(3)|p.R400G(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGGGGTGGCGATACGTGTAA	0.498000														44			18		0	0	0.001882	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376964	138376964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:138376964G>A	uc022bpi.1	+	0	608	c.608G>A	c.(607-609)gGa>gAa	p.G203E	PPP1R26_uc004cfr.1_Missense_Mutation_p.G203E	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	203						nucleolus	protein binding										AGCCAGGTGGGATCCAGCAAG	0.607000														29			25		0	0	0.003954	0	0
CHD8	57680	broad.mit.edu	37	14	21870115	21870115	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:21870115C>T	uc001war.2	-	19	4127	c.4062_splice	c.e19+1	p.K1354_splice	CHD8_uc001was.2_Splice_Site_p.K1075_splice|CHD8_uc001wav.1_Splice_Site_p.K517_splice	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1354					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACAGAACATGCCTTAGCAAAG	0.423000														94			27		0	0	0.007291	0	0
MARCH2	51257	broad.mit.edu	37	19	8495677	8495677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:8495677C>T	uc002mjv.3	+	4	949	c.508C>T	c.(508-510)Cac>Tac	p.H170Y	MARCH2_uc002mjw.3_Missense_Mutation_p.H170Y|MARCH2_uc002mjx.3_Intron	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	170					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCTCCGGCTCCACAGCCAGCT	0.632000														10			15		0	0	0.002450	0	0
TMEM132E	124842	broad.mit.edu	37	17	32962035	32962035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:32962035G>A	uc002hif.3	+	7	1964	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	546						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGTGGGCGATCCCCGAGT	0.617000														13			14		0	0	0.001855	0	0
NUP210L	91181	broad.mit.edu	37	1	154042924	154042924	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:154042924C>T	uc001fdw.3	-	16	2451	c.2379G>A	c.(2377-2379)ctG>ctA	p.L793L	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.L793L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	793						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTGTCCCTCAGTCTTGATA	0.338000														24			14		0	0	0.001855	0	0
TOP1	7150	broad.mit.edu	37	20	39708772	39708772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:39708772C>T	uc002xjl.3	+	5	629	c.383C>T	c.(382-384)cCt>cTt	p.P128L	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	128	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding	p.P128T(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TATTTTGTTCCTCCTAAAGAG	0.338000			T	NUP98	AML*									52			10		0	0	0.001855	0	0
RGS22	26166	broad.mit.edu	37	8	101014555	101014555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:101014555G>A	uc003yjb.1	-	17	2860	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	RGS22_uc003yja.1_Missense_Mutation_p.R708W|RGS22_uc003yjc.1_Missense_Mutation_p.R877W|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R278W|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	889	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTTATTCTCCGGAACTGCTCA	0.318000														29			20		0	0	0.002780	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118385531	118385532	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:118385531_118385532CC>TT	uc001lcq.3	+	4	302_303	c.279_280CC>TT	c.(277-282)atccat>atTTat	p.H94Y	PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA.	94					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCTTCATCATCCATGGCTTCTT	0.505000														17			5		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711932	140711932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140711932G>A	uc003lji.2	+	0	1681	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	PCDHGC5_uc011dan.2_Missense_Mutation_p.E561K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	563	Cadherin 5.				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)			CAACGCGCCCGAGATCCTGTA	0.647000														24			58		0	0	0.003610	0	0
MACF1	23499	broad.mit.edu	37	1	39926444	39926444	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:39926444T>A	uc021olw.1	+	56	16830	c.16830T>A	c.(16828-16830)ttT>ttA	p.F5610L	MACF1_uc021ols.1_Missense_Mutation_p.F5105L|MACF1_uc021olt.1_Missense_Mutation_p.F5108L|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7066					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCAGGAGTTTATCGATGGCA	0.423000														29			70		0	0	0.003610	0	0
XPC	7508	broad.mit.edu	37	3	14200020	14200020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:14200020G>A	uc011ave.2	-	8	1467	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	XPC_uc011avf.2_Missense_Mutation_p.P262S|XPC_uc011avg.2_Missense_Mutation_p.P418S|XPC_uc021wtl.1_5'Flank|XPC_uc021wtm.1_5'UTR	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	455	Asp/Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATCAGAGGGATCAGAGGCT	0.597000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					34			12		0	0	0.000978	0	0
COLEC10	10584	broad.mit.edu	37	8	120118306	120118306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:120118306G>A	uc003yoo.3	+	5	807	c.710G>A	c.(709-711)gGg>gAg	p.G237E		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	237	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGGAATGAGGGGGAACCCAGC	0.498000														36			13		0	0	0.001855	0	0
RBMX	27316	broad.mit.edu	37	X	135957686	135957687	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:135957686_135957687GG>AA	uc004fae.2	-	5	809_810	c.599_600CC>TT	c.(598-600)ccc>cTT	p.P200L	RBMX_uc011mwf.1_Missense_Mutation_p.P92F|RBMX_uc004fad.1_Missense_Mutation_p.P200L|RBMX_uc011mwg.2_Missense_Mutation_p.P161L|RBMX_uc004faf.2_Missense_Mutation_p.P61L	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	200						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTCTACGAGAGGGCAGCGGTTC	0.371000														0			46		0	0	0.004672	0	0
FAM5C	339479	broad.mit.edu	37	1	190067368	190067368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:190067368C>T	uc001gse.1	-	7	2313	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E	FAM5C_uc010pot.1_Missense_Mutation_p.G592E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	694						extracellular region		p.Q693H(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATCCTGGGATCCCTGAGTATA	0.453000														29			29		0	0	0.005443	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463580	241463580	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:241463580G>A	uc010fzd.1	-	7	1679	c.1554C>T	c.(1552-1554)agC>agT	p.S518S	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Silent_p.S288S|ANKMY1_uc002vyz.1_Silent_p.S429S|ANKMY1_uc002vza.1_Silent_p.S288S|ANKMY1_uc002vzd.1_Silent_p.S288S|ANKMY1_uc010fze.2_Silent_p.S98S|ANKMY1_uc002vze.3_Silent_p.S190S	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	429							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCTTCAGAGAGCTGCTCCTGT	0.652000														13			16		0	0	0.004007	0	0
ZNF33A	7581	broad.mit.edu	37	10	38306296	38306296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38306296C>T	uc010qev.2	+	2	357	c.253C>T	c.(253-255)Cca>Tca	p.P85S	ZNF33A_uc001izg.3_Missense_Mutation_p.P78S|ZNF33A_uc001izh.3_Missense_Mutation_p.P78S|ZNF33A_uc001izi.1_Missense_Mutation_p.P78S|ZNF33A_uc021ppe.1_Missense_Mutation_p.P78S|ZNF33A_uc001izj.3_Non-coding_Transcript	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	78						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAAGAATTCCCAAGCCAAAG	0.428000														86			30		0	0	0.002836	0	0
TNXB	7148	broad.mit.edu	37	6	32037466	32037466	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32037466G>A	uc003nzl.2	-	14	5653	c.5451C>T	c.(5449-5451)ccC>ccT	p.P1817P		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1899	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCACCACCTGGGGCTGCCCGT	0.657000														153			38		0	0	0.004289	0	0
SMG7	9887	broad.mit.edu	37	1	183514306	183514307	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:183514306_183514307CC>TT	uc001gqg.3	+	15	2479_2480	c.2229_2230CC>TT	c.(2227-2232)cccctt>ccTTtt	p.L744F	SMG7_uc010pob.2_Missense_Mutation_p.L727F|SMG7_uc021pga.1_Missense_Mutation_p.L656F|SMG7_uc001gqf.3_Missense_Mutation_p.L698F|SMG7_uc001gqh.3_Missense_Mutation_p.L698F|SMG7_uc010poc.2_Missense_Mutation_p.L702F	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	744	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCCAGCAACCCCTTACATCTTT	0.545000														70			9		0	0	0.004672	0	0
OR10J3	441911	broad.mit.edu	37	1	159283706	159283706	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159283706C>T	uc010piu.2	-	0	744	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T247R(1)		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)					GGATGATGACCACTGTGAGGT	0.512000														53			9		0	0	0.006214	0	0
OR4K5	79317	broad.mit.edu	37	14	20388834	20388835	+	Nonsense_Mutation	DNP	CC	TT	TT	rs144511665	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20388834_20388835CC>TT	uc010tkw.2	+	0	69_70	c.69_70CC>TT	c.(67-72)ctccag>ctTTag	p.Q24*		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCAAAAACTCCAGCTTTTCTA	0.406000														83			13		0	0	0.004672	0	0
NR2E3	10002	broad.mit.edu	37	15	72109899	72109899	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:72109899G>A	uc002ati.3	+	8	1297	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G		NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	369					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						TCAGGTTTGGGAAATTGCTCC	0.552000														62			47		0	0	0.003610	0	0
FOXK1	221937	broad.mit.edu	37	7	4794116	4794116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:4794116C>T	uc003snc.1	+	2	783	c.773C>T	c.(772-774)cCa>cTa	p.P258L	FOXK1_uc003sna.1_Missense_Mutation_p.P95L|FOXK1_uc003snb.1_Missense_Mutation_p.P258L	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	258					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGCCAGTCCACGCGGTGCC	0.627000														18			12		0	0	0.001855	0	0
DVL1	1855	broad.mit.edu	37	1	1275130	1275130	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:1275130G>A	uc001aer.4	-	8	1019	c.972C>T	c.(970-972)atC>atT	p.I324I	DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_Silent_p.I41I|DVL1_uc001aeu.1_Missense_Mutation_p.S11L	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	324					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTGGGAAACGATCTCCCGCA	0.642000														9			4		0	0	0.000248	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315294	154315295	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:154315294_154315295CC>TT	uc001fex.3	+	14	1409_1410	c.1409_1410CC>TT	c.(1408-1410)tcc>tTT	p.S470F		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	456					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTTGACTTCTCCTTCAATCCTC	0.559000														61			15		0	0	0.004672	0	0
PARP10	84875	broad.mit.edu	37	8	145058972	145058973	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145058972_145058973GG>AA	uc003zal.4	-	4	1305_1306	c.1197_1198CC>TT	c.(1195-1200)ggcctg>ggTTtg	p.399_400GL>GL	PARP10_uc003zak.4_Silent_p.105_106GL>GL|PARP10_uc011lku.2_Silent_p.411_412GL>GL|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Silent_p.399_400GL>GL|PARP10_uc010mfn.1_Silent_p.314_315GL>GL|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	399						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTTCCACCAGGCCCTCCTGCC	0.653000														33			38		0	0	0.004672	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216728	1216728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1216728G>A	uc003jbw.4	+	6	999	c.943G>A	c.(943-945)Gtg>Atg	p.V315M		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	315					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S314S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTTCACATCGGTGTATGTGGC	0.587000														27			5		0	0	0.000602	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080748	148080748	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:148080748G>A	uc003weu.2	+	21	3999	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1161	Laminin G-like 4.				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)			TAGAAACAGGGAAAATTGACC	0.433000										HNSCC(39;0.1)				28			26		0	0	0.005443	0	0
PARP10	84875	broad.mit.edu	37	8	145059330	145059331	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145059330_145059331GG>AA	uc003zal.4	-	4	947_948	c.839_840CC>TT	c.(838-840)acc>aTT	p.T280I	PARP10_uc003zak.4_5'UTR|PARP10_uc011lku.2_Missense_Mutation_p.T292I|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.T280I|PARP10_uc010mfn.1_Missense_Mutation_p.T195I|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	280						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAACCCTCCGGTCCTCAGGAG	0.649000														27			21		0	0	0.004672	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136405	40136405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:40136405G>A	uc021qgf.1	-	0	1438	c.1438C>T	c.(1438-1440)Cca>Tca	p.P480S	LRRC4C_uc001mxc.1_Missense_Mutation_p.P476S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P476S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P480S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P476S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	480					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCGACCACTGGAGTGGGACCC	0.498000														10			15		0	0	0.003163	0	0
VRTN	55237	broad.mit.edu	37	14	74825503	74825503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:74825503G>A	uc021rwl.1	+	0	2017	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	VRTN_uc001xpw.4_Missense_Mutation_p.E673K	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	673					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTCCTACAAGGAGTTCAGTGC	0.567000														19			29		0	0	0.001786	0	0
CRNN	49860	broad.mit.edu	37	1	152382338	152382338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152382338C>T	uc001ezx.2	-	2	1294	c.1220G>A	c.(1219-1221)gGg>gAg	p.G407E		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	407					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.G407W(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCTTGCCCCAGTCTGGGC	0.612000														33			22		0	0	0.001523	0	0
CHST2	9435	broad.mit.edu	37	3	142840860	142840860	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:142840860G>T	uc003evm.3	+	1	2141	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	CHST2_uc021xex.1_Missense_Mutation_p.S401I	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	401					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ATCTGCAATAGTATGGCTAAG	0.652000														27			20		2.70639e-06	3.71928e-06	0.002299	1	0
DDX3Y	8653	broad.mit.edu	37	Y	15027838	15027838	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrY:15027838T>C	uc004fsu.1	+	12	1517	c.1208T>C	c.(1207-1209)gTa>gCa	p.V403A	DDX3Y_uc004fsv.2_Missense_Mutation_p.V403A|DDX3Y_uc010nww.1_Missense_Mutation_p.V219A|DDX3Y_uc011nar.1_Missense_Mutation_p.V400A	NM_001122665	NP_004651	O15523	DDX3Y_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.	403						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						TTTTTGGCTGTAGGCAGAGTA	0.363000														2			66		0	0	0.003610	0	0
PNLDC1	154197	broad.mit.edu	37	6	160229840	160229840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:160229840G>A	uc003qsy.1	+	7	670	c.631G>A	c.(631-633)Gat>Aat	p.D211N	PNLDC1_uc003qsx.1_Missense_Mutation_p.D200N	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	200						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGTGCTGAAAGATGAGGGGGT	0.547000														6			8		0	0	0.004482	0	0
GZMM	3004	broad.mit.edu	37	19	547286	547286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:547286C>T	uc002low.1	+	1	107	c.62C>T	c.(61-63)tCc>tTc	p.S21F		NM_005317	NP_005308	P51124	GRAM_HUMAN	Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.	21					apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		GCAGGCAGCTCCTTTGGGACC	0.662000														16			21		0	0	0.002780	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057422	5057422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:5057422G>A	uc002cye.2	+	12	1687	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	503						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGAGCACACGGACCAGCTGTG	0.642000														11			13		0	0	0.002450	0	0
KDM3B	51780	broad.mit.edu	37	5	137727375	137727375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:137727375C>T	uc003lcy.1	+	7	2254	c.2054C>T	c.(2053-2055)tCt>tTt	p.S685F	KDM3B_uc010jew.1_Missense_Mutation_p.S341F|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	685	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GATTCGGCATCTTTAGCAAAG	0.537000														11			33		0	0	0.003271	0	0
CES1	1066	broad.mit.edu	37	16	55862792	55862792	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:55862792G>A	uc002eim.3	-	1	252	c.144C>T	c.(142-144)gcC>gcT	p.A48A	CES1_uc002eil.3_Silent_p.A49A|CES1_uc002ein.3_Silent_p.A48A	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	48					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCAGGAAAATGGCCACAGGCT	0.572000														37			10		0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237880614	237880614	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:237880614C>T	uc001hyl.1	+	71	10560	c.10440C>T	c.(10438-10440)atC>atT	p.I3480I	RYR2_uc010pxz.1_Silent_p.I435I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3480					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTTGAACATCTGTGCCCCTG	0.498000														12			13		0	0	0.003163	0	0
SSR2	6746	broad.mit.edu	37	1	155989874	155989874	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:155989874G>A	uc001fmx.3	-	1	165	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	SSR2_uc010pgw.2_Silent_p.L48L	NM_003145	NP_003136	P43308	SSRB_HUMAN	Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.	29					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTTCAGCAGTGATTTGGAA	0.478000														32			22		0	0	0.003954	0	0
FUT9	10690	broad.mit.edu	37	6	96651444	96651444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:96651444C>T	uc003pop.4	+	2	754	c.413C>T	c.(412-414)tCa>tTa	p.S138L	FUT9_uc021zcw.1_Missense_Mutation_p.S138L	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	138					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTTGGAATCACCAACTCAC	0.463000														30			10		0	0	0.008291	0	0
STK36	27148	broad.mit.edu	37	2	219540913	219540914	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219540913_219540914CC>TT	uc002viu.3	+	5	875_876	c.596_597CC>TT	c.(595-597)ccc>cTT	p.P199L	STK36_uc002viv.3_Missense_Mutation_p.P199L	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	199	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGCACCCCTCCCTTCTATGCTA	0.520000														43			16		0	0	0.004672	0	0
OR51G2	81282	broad.mit.edu	37	11	4936765	4936765	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4936765G>A	uc001lzr.1	-	0	129	c.129C>T	c.(127-129)tcC>tcT	p.S43S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCCGGGATGGAAACCAGAT	0.507000														39			12		0	0	0.001368	0	0
DBF4	10926	broad.mit.edu	37	7	87537442	87537442	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:87537442C>T	uc003ujf.1	+	11	2493	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	DBF4_uc003ujh.1_Silent_p.F403F|DBF4_uc003ujg.1_Silent_p.F439F|DBF4_uc011khf.1_Silent_p.F430F	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	663					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAGCGTTTTTCTCGTCCCCTT	0.299000														31			13		0	0	0.002450	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64466461	64466461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:64466461G>A	uc003jtp.3	-	23	4041	c.3227C>T	c.(3226-3228)cCc>cTc	p.P1076L	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1076					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ATTAGAAATGGGGGTACTGTC	0.498000														7			6		0	0	0.001168	0	0
CTNND2	1501	broad.mit.edu	37	5	11159866	11159866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:11159866G>A	uc003jfa.1	-	11	2126	c.1981C>T	c.(1981-1983)Ctt>Ttt	p.L661F	CTNND2_uc010itt.2_Missense_Mutation_p.L570F|CTNND2_uc011cmy.1_Missense_Mutation_p.L324F|CTNND2_uc011cmz.1_Missense_Mutation_p.L228F|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.L228F	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	661					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGTTCCAAAGGACTCCTGCA	0.488000														45			17		0	0	0.006122	0	0
HECW1	23072	broad.mit.edu	37	7	43351432	43351432	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:43351432G>C	uc003tid.1	+	3	703	c.98G>C	c.(97-99)cGc>cCc	p.R33P	HECW1_uc011kbi.1_Missense_Mutation_p.R33P|HECW1_uc003tie.1_Missense_Mutation_p.R65P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	33					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						CAGAGCCGACGCCGGTGCAAG	0.607000														45			11		0	0	0.008291	0	0
GSK3B	2932	broad.mit.edu	37	3	119634959	119634960	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119634959_119634960CC>TT	uc003edo.3	-	4	1522_1523	c.539_540GG>AA	c.(538-540)cgg>cAA	p.R180Q	GSK3B_uc003edn.3_Missense_Mutation_p.R180Q	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	180	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding	p.R180Q(3)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTTTAATATCCCGATGGCAGAT	0.406000														45			32		0	0	0.004672	0	0
VGLL2	245806	broad.mit.edu	37	6	117589584	117589584	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:117589584G>A	uc003pxn.3	+	1	527	c.321G>A	c.(319-321)ctG>ctA	p.L107L	VGLL2_uc003pxo.3_Silent_p.L107L	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN	Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.	107					transcription, DNA-dependent	nucleus		p.L107L(2)		central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GCAGGGCCCTGAGCCAACCCA	0.597000														13			12		0	0	0.000978	0	0
ZNF532	55205	broad.mit.edu	37	18	56587508	56587508	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:56587508C>T	uc010xeg.2	+	2	2186	c.1989C>T	c.(1987-1989)tcC>tcT	p.S663S	ZNF532_uc002lhp.3_Silent_p.S661S|ZNF532_uc002lho.3_Silent_p.S663S|ZNF532_uc002lhr.3_Silent_p.S661S|ZNF532_uc002lhs.3_Silent_p.S661S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	663					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						GCCTCCTTTCCCATGCCCGTG	0.483000														28			13		0	0	0.002450	0	0
ALLC	55821	broad.mit.edu	37	2	3750043	3750044	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:3750043_3750044GG>AA	uc010ewt.3	+	11	1227_1228	c.1066_1067GG>AA	c.(1066-1068)ggg>AAg	p.G356K	ALLC_uc002qyf.3_Missense_Mutation_p.G127K	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	375							allantoicase activity	p.D355D(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGTCCCCGACGGGGGAGTGAGC	0.589000										HNSCC(21;0.051)				8			5		0	0	0.004672	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352764	117352764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:117352764C>T	uc001prh.1	-	11	2655	c.2653G>A	c.(2653-2655)Ggg>Agg	p.G885R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	825	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.G885W(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACTGTGTCCCCCTTCTCCCAG	0.627000														1			12		0	0	0.001368	0	0
CSMD3	114788	broad.mit.edu	37	8	113841920	113841920	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:113841920G>A	uc003ynu.3	-	11	2013	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	CSMD3_uc003ynt.3_Silent_p.L578L|CSMD3_uc011lhx.2_Silent_p.L514L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	618	CUB 3.					integral to membrane|plasma membrane		p.V617M(1)		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						CTTACACTTGGAGCACTGTCC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				18			9		0	0	0.000978	0	0
QRFPR	84109	broad.mit.edu	37	4	122250603	122250603	+	Missense_Mutation	SNP	C	T	T	rs145398896	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:122250603C>T	uc010inj.1	-	5	1541	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	388						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AATGCTTCTCCTTTGGTTTCC	0.423000														108			81		0	0	0.003610	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101771207	101771207	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:101771207G>A	uc001pgl.3	-	6	1211	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	205	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ACAACCTCTGGAAATCAATTA	0.348000														51			18		0	0	0.002299	0	0
TMPO	7112	broad.mit.edu	37	12	98928048	98928048	+	Silent	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:98928048T>G	uc001tfh.2	+	3	2308	c.2013T>G	c.(2011-2013)acT>acG	p.T671T	TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGCTTCCACTCCCTTTAAAG	0.388000														129			58		0	0	0.003610	0	0
ADCY7	113	broad.mit.edu	37	16	50349029	50349029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:50349029G>A	uc002egd.1	+	23	3344	c.3076G>A	c.(3076-3078)Gga>Aga	p.G1026R		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	1026					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGAAAGCACTGGAGAACTTGG	0.507000														19			25		0	0	0.004656	0	0
DNER	92737	broad.mit.edu	37	2	230282864	230282864	+	Silent	SNP	G	A	A	rs138648634		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:230282864G>A	uc002vpv.3	-	8	1716	c.1569C>T	c.(1567-1569)ctC>ctT	p.L523L		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	523	EGF-like 8; calcium-binding (Potential).				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)		AGCCATTAACGAGGTCCCTGC	0.522000														32			15		0	0	0.004007	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293630	71293631	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:71293630_71293631GA>AT	uc001oqu.3	-	0	291_292	c.253_254TC>AT	c.(253-255)tcc>ATc	p.S85I		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	85	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.S85F(4)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGCAGTTGGACTGGGAGCAG	0.624000														58			35		0	0	0.004672	0	0
LEPREL1	55214	broad.mit.edu	37	3	189691762	189691762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:189691762C>T	uc011bsk.2	-	9	1872	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	LEPREL1_uc003fsg.3_Missense_Mutation_p.G314E	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	495					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGTTTTTCCTCTGTATCC	0.383000														105			69		0	0	0.003610	0	0
FIG4	9896	broad.mit.edu	37	6	110146339	110146339	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:110146339C>T	uc003ptt.2	+	22	2810	c.2595C>T	c.(2593-2595)ccC>ccT	p.P865P	FIG4_uc011eau.1_Silent_p.P559P	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	865					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAGTTCAGCCCCCAAGAGTAG	0.448000														23			30		0	0	0.002096	0	0
ALOXE3	59344	broad.mit.edu	37	17	8000078	8000079	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:8000078_8000079GG>AA	uc002gka.3	-	14	2501_2502	c.2470_2471CC>TT	c.(2470-2472)ccg>TTg	p.P824L	ALOXE3_uc010cnr.3_Missense_Mutation_p.P668L|ALOXE3_uc010vuo.2_Missense_Mutation_p.P800L	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	668					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GCTCCGCCTCGGGGCCTCCTCT	0.614000														18			22		0	0	0.004672	0	0
AICDA	57379	broad.mit.edu	37	12	8757408	8757408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:8757408G>A	uc001qur.2	-	3	617	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	AICDA_uc001qup.1_Missense_Mutation_p.L165F|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	180					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.L180I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTTACCAAAAGGATGCGCCGA	0.388000														85			66		0	0	0.003610	0	0
PAPSS2	9060	broad.mit.edu	37	10	89472915	89472915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:89472915G>A	uc001kex.3	+	2	492	c.229G>A	c.(229-231)Gat>Aat	p.D77N	PAPSS2_uc001kew.3_Missense_Mutation_p.D77N|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	77					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TTACTCCCTGGATGGGGACAA	0.498000														43			48		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307248	140307248	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140307248C>T	uc003lih.2	+	0	947	c.771C>T	c.(769-771)gcC>gcT	p.A257A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.A257A	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	281	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTTCAAGCCTTGGATCCAG	0.532000														21			12		0	0	0.001855	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	144942	144942	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:144942G>A	uc003jak.2	+	4	794	c.744_splice	c.e4-1	p.R248_splice		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	248					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCCTCCCCAGGAAAGAGGTCC	0.562000														6			13		0	0	0.003163	0	0
SACS	26278	broad.mit.edu	37	13	23913172	23913172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:23913172G>A	uc001uon.2	-	9	5432	c.4843C>T	c.(4843-4845)Cct>Tct	p.P1615S	SACS_uc001uoo.2_Missense_Mutation_p.P1468S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1615					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGATTAGGAAATTTTCTA	0.343000														31			26		0	0	0.003954	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343834	38343834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38343834C>T	uc010qev.2	+	3	904	c.800C>T	c.(799-801)tCc>tTc	p.S267F	ZNF33A_uc001izg.3_Missense_Mutation_p.S261F|ZNF33A_uc001izh.3_Missense_Mutation_p.S260F|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.S261F	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	260						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GATAGTTCATCCCTCTTGTTC	0.383000														18			24		0	0	0.003330	0	0
ATP8B4	79895	broad.mit.edu	37	15	50399151	50399151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:50399151C>T	uc001zxu.3	-	1	155	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	5					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATTTCTTTTCACTGCAGAAC	0.289000														27			23		0	0	0.004656	0	0
C11orf30	56946	broad.mit.edu	37	11	76234319	76234319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:76234319C>T	uc001oxl.3	+	11	1948	c.1805C>T	c.(1804-1806)aCg>aTg	p.T602M	C11orf30_uc001oxm.3_Missense_Mutation_p.T518M|C11orf30_uc010rsb.2_Missense_Mutation_p.T617M|C11orf30_uc010rsc.2_Missense_Mutation_p.T617M|C11orf30_uc001oxn.3_Missense_Mutation_p.T603M|C11orf30_uc010rsd.2_Missense_Mutation_p.T616M	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	602	Thr-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.T601K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GTTGTCACAACGTTGCTAAAT	0.423000														16			39		0	0	0.006230	0	0
PNRC1	10957	broad.mit.edu	37	6	89790784	89790785	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:89790784_89790785CC>TT	uc003pmv.3	+	0	356_357	c.171_172CC>TT	c.(169-174)ctccct>ctTTct	p.P58S	PNRC1_uc021zcp.1_Missense_Mutation_p.P58S|PNRC1_uc003pmx.3_5'Flank	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	Homo sapiens proline-rich nuclear receptor coactivator 1 (PNRC1), mRNA.	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CCCTCTTCCTCCCTCATTTCCT	0.703000										Multiple Myeloma(7;0.094)				15			15		0	0	0.004672	0	0
ZNF286A	57335	broad.mit.edu	37	17	15604486	15604486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:15604486C>T	uc010cot.3	+	2	454	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	ZNF286A_uc002goz.4_5'UTR|ZNF286A_uc010vwa.2_Missense_Mutation_p.P20S|ZNF286A_uc002gpa.3_Missense_Mutation_p.P20S	NM_001130842	NP_065703	Q9HBT8	Z286A_HUMAN	Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA.	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S19S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CCAGGATTCTCCCCATTTCCA	0.473000														183			60		0	0	0.003610	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625336	56625336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:56625336C>T	uc010sqj.2	+	3	535	c.278C>T	c.(277-279)tCc>tTc	p.S93F	SLC39A5_uc010sqi.2_5'UTR|SLC39A5_uc010sqk.2_Missense_Mutation_p.S93F	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	93					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGACAATTCCACACACAGG	0.632000														27			15		0	0	0.004007	0	0
MAP1A	4130	broad.mit.edu	37	15	43816167	43816167	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:43816167C>T	uc001zrt.3	+	3	2963	c.2496C>T	c.(2494-2496)atC>atT	p.I832I		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	832						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCACTTCAATCACTGAGTGTG	0.522000														23			15		0	0	0.003163	0	0
HSF5	124535	broad.mit.edu	37	17	56536308	56536308	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56536308T>A	uc002iwi.1	-	5	1667	c.1543_splice	c.e5-1	p.V515_splice		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	515						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCATCCACCTAAAATATTAA	0.383000														82			116		0	0	0.003610	0	0
ARL8A	127829	broad.mit.edu	37	1	202107544	202107544	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:202107544G>A	uc001gxk.1	-	1	322	c.156C>T	c.(154-156)acC>acT	p.T52T		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	Homo sapiens ADP-ribosylation factor-like 8A (ARL8A), transcript variant 1, mRNA.	52					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	GTP binding|GTPase activity|alpha-tubulin binding|beta-tubulin binding			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TGAAACCCACGGTGGGGATCA	0.512000														21			26		0	0	0.001786	0	0
TBCD	6904	broad.mit.edu	37	17	80758854	80758854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80758854C>T	uc002kfy.1	+	8	1062	c.932C>T	c.(931-933)cCg>cTg	p.P311L	TBCD_uc002kfx.1_Missense_Mutation_p.P294L|TBCD_uc002kfz.3_Missense_Mutation_p.P311L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	311					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTCCTGAAGCCGAAGGTGGCA	0.662000														15			24		0	0	0.003330	0	0
SCEL	8796	broad.mit.edu	37	13	78130781	78130781	+	Missense_Mutation	SNP	G	A	A	rs142444600	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:78130781G>A	uc001vki.3	+	2	264	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SCEL_uc010thx.2_Missense_Mutation_p.E32K|SCEL_uc001vkj.3_Missense_Mutation_p.E32K	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	32					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGATTTTCACGAGGTGAACAA	0.448000														126			39		0	0	0.004289	0	0
CADPS2	93664	broad.mit.edu	37	7	122377021	122377021	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:122377021C>T	uc022akp.1	-	1	863	c.441G>A	c.(439-441)cgG>cgA	p.R147R	CADPS2_uc022akq.1_Silent_p.R147R|CADPS2_uc010lkq.3_Silent_p.R147R|CADPS2_uc022akr.1_Silent_p.R147R	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	147					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATAATAACTCCGAACTGCGT	0.373000														19			15		0	0	0.003163	0	0
MR1	3140	broad.mit.edu	37	1	181018307	181018307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:181018307C>T	uc001goq.2	+	2	348	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	MR1_uc001gor.2_Missense_Mutation_p.R63W|MR1_uc001gos.2_Missense_Mutation_p.R63W|MR1_uc010pns.2_Missense_Mutation_p.R63W|MR1_uc001gop.3_Missense_Mutation_p.R63W	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	63	Alpha-1.|Ligand-binding.		R -> Q (in dbSNP:rs3897433).		antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity	p.R63Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CAGTGTCACTCGGCAGAAGGA	0.572000														12			13		0	0	0.002450	0	0
HGS	9146	broad.mit.edu	37	17	79662044	79662044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:79662044G>A	uc002kbg.3	+	12	1201	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	356	Interaction with SNX1 (By similarity).|Pro-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCCCCTGACGGAGCCGGCTGC	0.667000														41			8		0	0	0.003080	0	0
CTSC	1075	broad.mit.edu	37	11	88033707	88033708	+	Nonsense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:88033707_88033708GA>AC	uc001pck.4	-	4	848_849	c.747_748TC>GT	c.(745-750)gttcga>gtGTga	p.R250*	CTSC_uc001pcl.4_Nonsense_Mutation_p.R102*	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	250					immune response	lysosome	cysteine-type endopeptidase activity	p.R250*(2)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTTGGTTTCGAACAGGACTGA	0.371000														19			18		0	0	0.004672	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258620	9258620	+	Silent	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:9258620G>T	uc002knv.3	+	8	5619	c.5355G>T	c.(5353-5355)cgG>cgT	p.R1785R	ANKRD12_uc002knw.3_Silent_p.R1762R|ANKRD12_uc002knx.3_Silent_p.R1762R|ANKRD12_uc010dkx.1_Silent_p.R1492R	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1785						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACCATCCACGGAAAAGGAAAG	0.418000														13			37		1.30998e-17	1.816e-17	0.005524	1	0
VTN	7448	broad.mit.edu	37	17	26696596	26696597	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:26696596_26696597TC>CT	uc002hbc.3	-	2	609_610	c.460_461GA>AG	c.(460-462)gag>AGg	p.E154R	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	154					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ACTGCACAGCTCCTCCTCTGCT	0.629000														15			14		0	0	0.004672	0	0
AFF3	3899	broad.mit.edu	37	2	100170902	100170902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:100170902G>A	uc002taf.3	-	22	3649	c.3505C>T	c.(3505-3507)Ccg>Tcg	p.P1169S	AFF3_uc002tag.3_Missense_Mutation_p.P1144S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1144					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATGGTCGACGGGGACAGGGCG	0.637000														17			8		0	0	0.003080	0	0
FRMD5	84978	broad.mit.edu	37	15	44181045	44181045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:44181045C>T	uc001ztl.3	-	8	931	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.E163K|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.E18K	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	252	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GTCTTTCCTTCAAATTTCAGC	0.473000														48			12		0	0	0.001855	0	0
KIT	3815	broad.mit.edu	37	4	55564466	55564466	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:55564466C>T	uc010igr.3	+	2	441	c.354C>T	c.(352-354)ttC>ttT	p.F118F	KIT_uc010igs.3_Silent_p.F118F	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	118					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAAGCTTTTCCTTGTTGACC	0.458000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					21			20		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179594940	179594940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179594940C>T	uc021vsy.1	-	58	14680	c.14455G>A	c.(14455-14457)Gat>Aat	p.D4819N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1480N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5746	Ig-like 28.						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)			GAGGTGTCATCCTTCCAAACT	0.468000														19			12		0	0	0.004990	0	0
USP34	9736	broad.mit.edu	37	2	61597488	61597488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:61597488G>A	uc002sbe.3	-	9	1241	c.1219C>T	c.(1219-1221)Caa>Taa	p.Q407*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	407					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAATATGTTGAGTACTCAGT	0.348000														38			74		0	0	0.003610	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010570	73010570	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:73010570C>T	uc003tyn.1	-	12	2019	c.1971G>A	c.(1969-1971)gcG>gcA	p.A657A	MLXIPL_uc003tyj.1_Silent_p.A36A|MLXIPL_uc003tyk.1_Silent_p.A655A|MLXIPL_uc003tym.1_Silent_p.A657A|MLXIPL_uc003tyl.1_Silent_p.A655A|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.A563A	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	657					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTTCTGCTCCGCGGAGATGT	0.632000														36			8		0	0	0.008291	0	0
KCNK10	54207	broad.mit.edu	37	14	88652148	88652148	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:88652148T>C	uc001xwm.3	-	6	1485	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A	KCNK10_uc001xwn.3_Missense_Mutation_p.T455A|KCNK10_uc001xwo.3_Missense_Mutation_p.T450A	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	450					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGTCTGGAGGTGGACCCGAAC	0.547000														35			42		0	0	0.008740	0	0
CARD11	84433	broad.mit.edu	37	7	2985573	2985573	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:2985573G>A	uc003smv.3	-	3	572	c.238C>T	c.(238-240)Cta>Tta	p.L80L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	80	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R79S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGTATGTAGAATGTCCAAC	0.493000			Mis		DLBCL									76			70		0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238277279	238277279	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:238277279G>A	uc002vwl.2	-	9	5112	c.4827C>T	c.(4825-4827)atC>atT	p.I1609I	COL6A3_uc002vwo.2_Silent_p.I1403I|COL6A3_uc010znj.1_Silent_p.I1002I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1609	Nonhelical region.|VWFA 8.				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)		ACGAGTTCATGATTCTTTCTT	0.552000														39			20		0	0	0.007413	0	0
GNG2	54331	broad.mit.edu	37	14	52433367	52433367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:52433367C>T	uc001wzi.3	+	3	735	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P60S|GNG2_uc001wzj.3_Missense_Mutation_p.P60S|GNG2_uc001wzk.3_Missense_Mutation_p.P60S	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	60					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TTCAGAAAACCCGTTTAGGGA	0.522000														71			21		0	0	0.002299	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078587	11078587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:11078587C>T	uc010hdq.3	+	15	2146	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	579					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGACATCGTTCGCCCAGAGAA	0.637000														31			17		0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179574513	179574513	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179574513G>A	uc021vsy.1	-	95	25026	c.24801C>T	c.(24799-24801)ttC>ttT	p.F8267F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4928F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9194	Ig-like 65.						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)			CCTCAAGTTTGAAAGAATTCC	0.383000														59			26		0	0	0.004656	0	0
RNF43	54894	broad.mit.edu	37	17	56435835	56435835	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56435835G>A	uc002iwf.3	-	7	3258	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	RNF43_uc010wnv.2_Silent_p.P393P|RNF43_uc002iwh.4_Silent_p.P434P|RNF43_uc002iwg.4_Silent_p.P434P|RNF43_uc010dcw.3_Silent_p.P307P	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	434						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCGGCGTAGGGGCACTGGGC	0.642000														32			10		0	0	0.002450	0	0
TINAG	27283	broad.mit.edu	37	6	54173453	54173453	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:54173453C>T	uc003pcj.2	+	0	251	c.105C>T	c.(103-105)ttC>ttT	p.F35F	TINAG_uc003pci.3_Silent_p.F35F|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	35					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGGCTTATTTCACTAGGAATC	0.393000														37			39		0	0	0.005524	0	0
OR1N2	138882	broad.mit.edu	37	9	125316021	125316021	+	Silent	SNP	C	T	T	rs143315983		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125316021C>T	uc011lyx.2	+	0	573	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I191I(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGAAAGCCATCCCTCATTTCT	0.527000														44			38		0	0	0.003610	0	0
MYT1L	23040	broad.mit.edu	37	2	1926200	1926200	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:1926200G>A	uc002qxe.3	-	9	2168	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	MYT1L_uc002qxd.3_Silent_p.A447A|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	447					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCTCCCTCATGGCCTTTGCTC	0.542000														60			39		0	0	0.003214	0	0
COL21A1	81578	broad.mit.edu	37	6	55942371	55942371	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55942371C>T	uc003pcs.3	-	18	2045	c.1813_splice	c.e18-1	p.G605_splice	COL21A1_uc010jzz.3_Splice_Site|COL21A1_uc011dxg.2_Splice_Site|COL21A1_uc011dxh.2_Splice_Site|COL21A1_uc003pcr.3_Splice_Site	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	605	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTGGGATTCCCTAAAAACAA	0.318000														12			4		0	0	0.000602	0	0
TACC2	10579	broad.mit.edu	37	10	123970317	123970317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123970317G>A	uc001lfv.3	+	8	6737	c.6377G>A	c.(6376-6378)cGa>cAa	p.R2126Q	TACC2_uc001lfw.3_Missense_Mutation_p.R272Q|TACC2_uc009xzx.3_Missense_Mutation_p.R2081Q|TACC2_uc010qtv.2_Missense_Mutation_p.R2130Q|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.R204Q|TACC2_uc001lga.3_Missense_Mutation_p.R204Q|TACC2_uc009xzy.3_Missense_Mutation_p.R204Q|TACC2_uc001lgb.3_Missense_Mutation_p.R161Q|TACC2_uc010qtw.1_Missense_Mutation_p.R221Q	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2126						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)				ACCCTTAAGCGAACTAAAAAA	0.532000														59			16		0	0	0.004990	0	0
DNAH3	55567	broad.mit.edu	37	16	21011706	21011706	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:21011706G>A	uc010vbe.2	-	42	6261	c.6261C>T	c.(6259-6261)ttC>ttT	p.F2087F		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2087	AAA 3 (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)		GGTGGAGAAGGAAGTTGTTGG	0.493000														20			22		0	0	0.002299	0	0
DMGDH	29958	broad.mit.edu	37	5	78329201	78329201	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:78329201C>T	uc003kfs.3	-	7	1230	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	DMGDH_uc011cte.1_Silent_p.G258G|DMGDH_uc011ctf.1_Silent_p.G207G|DMGDH_uc011ctg.1_Silent_p.G28G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	408					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGAGATATTTCCCTACCCCAC	0.398000														39			23		0	0	0.003954	0	0
PLCE1	51196	broad.mit.edu	37	10	95791619	95791619	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:95791619G>A	uc001kjk.3	+	1	1450	c.816G>A	c.(814-816)aaG>aaA	p.K272K	PLCE1_uc010qnx.2_Silent_p.K272K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	272					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)				CTTGTGAGAAGGTTGACATGG	0.388000														64			23		0	0	0.002299	0	0
TXK	7294	broad.mit.edu	37	4	48088607	48088607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:48088607C>T	uc003gxx.4	-	9	918	c.832G>A	c.(832-834)Gga>Aga	p.G278R		NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	278	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGACCGCTTCCAATCTCCTTT	0.398000														30			27		0	0	0.005443	0	0
MED12L	116931	broad.mit.edu	37	3	150903248	150903248	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:150903248G>A	uc003eyp.3	+	11	1755	c.1626_splice	c.e11+1	p.E542_splice	MED12L_uc011bnz.2_Splice_Site_p.E402_splice|MED12L_uc003eyn.3_Splice_Site_p.E542_splice|MED12L_uc003eyo.3_Splice_Site_p.E542_splice|5S_rRNA_uc021xfx.1_5'Flank	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	542					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGAGGCAGAGGTAGGTTCCA	0.443000														12			15		0	0	0.004990	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669997	44669997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:44669997C>T	uc010zxl.1	+	7	1029	c.953C>T	c.(952-954)tCt>tTt	p.S318F	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.S295F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	318					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGCACGCTGTCTCGCCATGGC	0.577000														23			9		0	0	0.006214	0	0
ZNRF3	84133	broad.mit.edu	37	22	29383122	29383122	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:29383122G>T	uc003aeg.3	+	1	359	c.359G>T	c.(358-360)tGg>tTg	p.W120L	ZNRF3_uc021wnq.1_Missense_Mutation_p.W20L	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	120						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GAATATGGCTGGGTAGGAGTG	0.478000														41			23		4.87955e-14	6.7427e-14	0.005443	1	0
GABRB2	2561	broad.mit.edu	37	5	160753374	160753374	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:160753374C>T	uc003lys.1	-	10	1409	c.1191_splice	c.e10+1	p.T397_splice	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	397					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCTATCTAACCGTATACAGA	0.393000														21			8		0	0	0.003080	0	0
MICU1	10367	broad.mit.edu	37	10	74326472	74326472	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:74326472A>C	uc001jtb.2	-	1	263	c.80T>G	c.(79-81)aTc>aGc	p.I27S	MIR1256_uc021pth.1_Intron	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	27					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										CCGGATCTGGATGGGCTGTGA	0.483000														7			6		0	0	0.001984	0	0
GNAT1	2779	broad.mit.edu	37	3	50232077	50232078	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:50232077_50232078GG>AA	uc003cym.2	+	6	968_969	c.852_853GG>AA	c.(850-855)ccggac>ccAAac	p.D285N	GNAT1_uc003cyl.2_Missense_Mutation_p.D285N	NM_144499	NP_653082	P11488	GNAT1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.	285					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCTGTTTCCCGGACTACGATGG	0.634000											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			30		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82578946	82578946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:82578946G>A	uc003uhx.2	-	5	11247	c.10958C>T	c.(10957-10959)cCa>cTa	p.P3653L	PCLO_uc003uhv.2_Missense_Mutation_p.P3653L|PCLO_uc010lec.3_Missense_Mutation_p.P618L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3584					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACTTTCTGTGGACTTATATC	0.473000														76			73		0	0	0.003610	0	0
EDIL3	10085	broad.mit.edu	37	5	83360633	83360633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:83360633G>A	uc003kio.1	-	7	1257	c.838C>T	c.(838-840)Cca>Tca	p.P280S	EDIL3_uc003kip.1_Missense_Mutation_p.P270S|EDIL3_uc011ctt.1_Missense_Mutation_p.P57S	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	280	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTAGCATATGGAGTGTTGTTA	0.368000														29			10		0	0	0.002450	0	0
ABCA3	21	broad.mit.edu	37	16	2376255	2376255	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:2376255C>T	uc002cpy.1	-	4	787	c.75G>A	c.(73-75)acG>acA	p.T25T	ABCA3_uc010bsk.1_Silent_p.T25T|ABCA3_uc010bsl.1_Silent_p.T25T|ABCA3_uc002cpz.1_Silent_p.T25T	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	25					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTTCCAGGACCGTCACCAGGA	0.567000														41			5		0	0	0.000602	0	0
CCDC89	220388	broad.mit.edu	37	11	85396053	85396053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:85396053G>A	uc001pau.1	-	0	1268	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	374						cytoplasm|nucleus		p.P374P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACTTCCCTATGGAGAGAGATG	0.418000														41			23		0	0	0.006320	0	0
ABCC9	10060	broad.mit.edu	37	12	21997802	21997802	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:21997802G>A	uc001rfh.3	-	24	3164	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	ABCC9_uc001rfi.1_Silent_p.F1048F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1048	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAGGCAAAGGAAAATGCCTG	0.408000														22			20		0	0	0.007413	0	0
TPH2	121278	broad.mit.edu	37	12	72425098	72425098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:72425098G>A	uc009zrw.1	+	9	1366	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	TPH2_uc001swy.2_Missense_Mutation_p.E319K	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	409					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTGCTTACAGGAATGCCTTAT	0.403000														66			20		0	0	0.008871	0	0
STAU1	6780	broad.mit.edu	37	20	47734358	47734358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:47734358G>A	uc002xud.3	-	10	1876	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	STAU1_uc002xua.3_Missense_Mutation_p.P408S|STAU1_uc002xub.3_Missense_Mutation_p.P414S|STAU1_uc002xuc.3_Missense_Mutation_p.P408S|STAU1_uc002xue.3_Missense_Mutation_p.P408S|STAU1_uc002xuf.3_Missense_Mutation_p.P414S|STAU1_uc002xug.3_Missense_Mutation_p.P489S	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	489						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGCTCAGAGGGTCTCGTGAGA	0.537000														38			9		0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772878	140772878	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140772878C>T	uc003lkd.2	+	0	1396	c.498C>T	c.(496-498)tcC>tcT	p.S166S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.S166S|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	166	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)			GCGTGAACTCCCTCCAGAGCT	0.557000														30			17		0	0	0.008871	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477210	110477210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:110477210G>A	uc003yne.3	+	48	8253	c.8149G>A	c.(8149-8151)Gga>Aga	p.G2717R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2717					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGATGAACTGGGAATGGGGTC	0.473000										HNSCC(38;0.096)				74			18		0	0	0.001523	0	0
AOAH	313	broad.mit.edu	37	7	36662820	36662820	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:36662820A>C	uc022abu.1	-	6	959	c.558T>G	c.(556-558)gaT>gaG	p.D186E	AOAH_uc003tfh.4_Missense_Mutation_p.D186E|AOAH_uc011kba.2_Missense_Mutation_p.D154E	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	186					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATTTGTCTGAATCCACATCTT	0.358000														20			14		0	0	0.006122	0	0
IFNA16	3449	broad.mit.edu	37	9	21217191	21217191	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:21217191C>T	uc003zor.1	-	0	120	c.114G>A	c.(112-114)ttG>ttA	p.L38L	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	38					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.L38S(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCAGGAGTATCAAGGCCCTCC	0.502000														7			52		0	0	0.003610	0	0
GLP1R	2740	broad.mit.edu	37	6	39034053	39034053	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:39034053C>T	uc003ooj.4	+	4	543	c.483C>T	c.(481-483)atC>atT	p.I161I	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	161					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CTCTGGTTATCGCCTCTGCGA	0.602000														23			14		0	0	0.004007	0	0
CTDSP2	10106	broad.mit.edu	37	12	58221362	58221362	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:58221362G>A	uc001sqm.3	-	2	754	c.225C>T	c.(223-225)ctC>ctT	p.L75L	CTDSP2_uc009zqf.3_5'UTR|CTDSP2_uc009zqg.3_Intron|MIR26A2_uc001sqn.2_5'Flank	NM_005730	NP_005721	O14595	CTDS2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 (CTDSP2), mRNA.	75					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GGAGACACTGGAGCAGATCCG	0.572000														7			7		0	0	0.004482	0	0
DAO	1610	broad.mit.edu	37	12	109278948	109278948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:109278948C>T	uc001tnr.4	+	1	837	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	DAO_uc001tnq.4_Missense_Mutation_p.L56F|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	56					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GCAGCCCTACCTTTCTGACCC	0.617000														26			34		0	0	0.002522	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480249	96480249	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:96480249C>T	uc001kjv.4	+	5	1242	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	CYP2C19_uc001kjw.4_Silent_p.L247L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	306					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)	GAGCACCACTCTGAGATATGG	0.448000														36			19		0	0	0.001882	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066980	18066980	+	Silent	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:18066980T>C	uc003stz.3	-	0	507	c.426A>G	c.(424-426)gtA>gtG	p.V142V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	142					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ACAAGTTGTCTACTGGGATAT	0.453000														40			49		0	0	0.003610	0	0
KCNC1	3746	broad.mit.edu	37	11	17793886	17793886	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:17793886G>A	uc009yhc.1	+	1	1300	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	KCNC1_uc001mnk.4_Silent_p.L415L	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	415						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCGGCATGCTGGTGGGGGCTC	0.602000														54			16		0	0	0.006122	0	0
SCUBE1	80274	broad.mit.edu	37	22	43616506	43616506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:43616506G>A	uc003bdt.2	-	13	1764	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	546					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGTGATGTGGGACACCTCCTT	0.577000														43			12		0	0	0.001368	0	0
LIMCH1	22998	broad.mit.edu	37	4	41663489	41663489	+	Missense_Mutation	SNP	G	A	A	rs139738687		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:41663489G>A	uc003gvz.4	+	18	3506	c.3089G>A	c.(3088-3090)gGa>gAa	p.G1030E	LIMCH1_uc003gwe.4_Missense_Mutation_p.G645E|LIMCH1_uc003gvu.4_Missense_Mutation_p.G645E|LIMCH1_uc003gvv.4_Missense_Mutation_p.G645E|LIMCH1_uc003gvw.4_Missense_Mutation_p.G645E|LIMCH1_uc003gvx.4_Missense_Mutation_p.G633E|LIMCH1_uc003gvy.4_Missense_Mutation_p.G474E|LIMCH1_uc003gwa.4_Missense_Mutation_p.G486E|LIMCH1_uc011byu.2_Missense_Mutation_p.G479E|LIMCH1_uc003gwc.4_Missense_Mutation_p.G491E|LIMCH1_uc003gwd.4_Missense_Mutation_p.G479E|LIMCH1_uc011byv.2_Missense_Mutation_p.G396E|LIMCH1_uc011byw.2_5'Flank	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	645	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AATGATGGTGGAAAATCAAGA	0.353000											OREG0016170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			6		0	0	0.003080	0	0
CACNA1E	777	broad.mit.edu	37	1	181721290	181721290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:181721290G>A	uc009wxt.3	+	26	3938	c.3743G>A	c.(3742-3744)gGa>gAa	p.G1248E	CACNA1E_uc001gow.3_Missense_Mutation_p.G1248E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1229E|CACNA1E_uc001gox.1_Missense_Mutation_p.G474E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1248					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCAACAAAGGACGGGACATC	0.483000														27			30		0	0	0.001786	0	0
KCNH6	81033	broad.mit.edu	37	17	61611254	61611254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61611254C>T	uc002jay.3	+	4	763	c.683C>T	c.(682-684)tCc>tTc	p.S228F	KCNH6_uc002jax.1_Missense_Mutation_p.S228F|KCNH6_uc010wpl.2_Missense_Mutation_p.S105F|KCNH6_uc010wpm.2_Missense_Mutation_p.S228F|KCNH6_uc002jaz.1_Missense_Mutation_p.S228F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	228					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CAGGTCCTGTCCCTGGGCGCG	0.687000														49			13		0	0	0.001368	0	0
ABCA11P	79963	broad.mit.edu	37	4	437781	437781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:437781G>A	uc003gaf.4	-	2	797	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.H159Y|ABCA11P_uc010ibe.3_Missense_Mutation_p.H147Y	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TCTCCAGTATGAATTTTCTTG	0.393000														127			37		0	0	0.004878	0	0
QRSL1	55278	broad.mit.edu	37	6	107096972	107096972	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:107096972G>A	uc003prm.3	+	4	569	c.453G>A	c.(451-453)aaG>aaA	p.K151K	QRSL1_uc003prl.2_Silent_p.K151K	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	151					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		ATAGAGAAAAGAGGAAGCAGA	0.463000														19			17		0	0	0.004990	0	0
SDK1	221935	broad.mit.edu	37	7	4153801	4153801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:4153801G>A	uc003smx.3	+	24	3857	c.3718G>A	c.(3718-3720)Gag>Aag	p.E1240K	SDK1_uc010kso.3_Missense_Mutation_p.E516K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1240	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATTCACCATCGAGGAGCTGGA	0.637000														15			18		0	0	0.001882	0	0
MAN2A1	4124	broad.mit.edu	37	5	109120469	109120469	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:109120469C>T	uc003kou.1	+	9	2565	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	534					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTACTATTTCGCCCTGAGAC	0.333000														35			11		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179426117	179426117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179426117G>A	uc021vsy.1	-	274	77263	c.77038C>T	c.(77038-77040)Cct>Tct	p.P25680S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P19375S|TTN_uc021vta.1_Missense_Mutation_p.P19308S|TTN_uc021vtb.1_Missense_Mutation_p.P19183S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26607	Ig-like 125.						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)			TCTCTTGCAGGGACTGGTTCA	0.413000														98			32		0	0	0.004289	0	0
LNX1	84708	broad.mit.edu	37	4	54362234	54362234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:54362234C>T	uc003hag.4	-	5	1562	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D340N|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	436	PDZ 2.					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)			TATCGAAGATCATGTCCATTG	0.507000														63			12		0	0	0.000978	0	0
EXPH5	23086	broad.mit.edu	37	11	108380982	108380982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:108380982C>T	uc001pkk.3	-	5	5363	c.5252G>A	c.(5251-5253)aGg>aAg	p.R1751K	EXPH5_uc010rvz.2_Missense_Mutation_p.R1595K|EXPH5_uc010rvy.2_Missense_Mutation_p.R1563K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1751					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGGCTCAGCCTCCTCTGATT	0.507000														17			17		0	0	0.004007	0	0
CACNG5	27091	broad.mit.edu	37	17	64881222	64881222	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:64881222C>T	uc010wqi.2	+	5	930	c.693C>T	c.(691-693)ttC>ttT	p.F231F	CACNG5_uc010wqj.2_Silent_p.F231F	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	231				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CAGGCCAGTTCCTACACCCAG	0.627000														27			24		0	0	0.005443	0	0
MGA	23269	broad.mit.edu	37	15	42000029	42000030	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:42000029_42000030CC>TT	uc010ucy.2	+	5	2473_2474	c.2292_2293CC>TT	c.(2290-2295)aacctt>aaTTtt	p.L765F	MGA_uc001zog.1_Missense_Mutation_p.L765F|MGA_uc010ucz.2_Missense_Mutation_p.L765F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	765						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTTTTTGGAACCTTACAGGAAC	0.366000														52			9		0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139155261	139155261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:139155261C>T	uc003yuy.3	-	15	3803	c.3632G>A	c.(3631-3633)cGa>cAa	p.R1211Q	FAM135B_uc003yux.3_Missense_Mutation_p.R1112Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.R773Q|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1211								p.R1211Q(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCTAATTCGGGATATGGA	0.393000										HNSCC(54;0.14)				19			15		0	0	0.004990	0	0
NGLY1	55768	broad.mit.edu	37	3	25761670	25761670	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:25761670G>A	uc003cdl.3	-	10	1732	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	NGLY1_uc010hfg.3_Nonsense_Mutation_p.R524*|NGLY1_uc003cdm.3_Intron|NGLY1_uc011awo.2_Nonsense_Mutation_p.R500*|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	542	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CCTTCCTTTCGGGCCAAATAT	0.363000														19			21		0	0	0.001523	0	0
LRP1B	53353	broad.mit.edu	37	2	141201961	141201961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141201961G>A	uc002tvj.1	-	64	11204	c.10232C>T	c.(10231-10233)cCa>cTa	p.P3411L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3411	LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAGTTTACTGGGATACATTT	0.393000										TSP Lung(27;0.18)				26			40		0	0	0.007835	0	0
IQCA1	79781	broad.mit.edu	37	2	237308122	237308122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:237308122C>T	uc002vwb.2	-	8	1199	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	IQCA1_uc002vvz.1_Missense_Mutation_p.E382K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E341K	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	382	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTCCATTTTTCGTCTTCTTCC	0.458000														49			12		0	0	0.000978	0	0
C11orf41	25758	broad.mit.edu	37	11	33564920	33564920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:33564920C>T	uc021qfs.1	+	0	1044	c.920C>T	c.(919-921)aCc>aTc	p.T307I	C11orf41_uc001mun.1_Missense_Mutation_p.T307I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	307						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GATTTCAGCACCGGTAGTGTC	0.473000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		96			32		0	0	0.003755	0	0
ZFHX3	463	broad.mit.edu	37	16	72822397	72822397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:72822397C>T	uc002fck.3	-	9	10451	c.9778G>A	c.(9778-9780)Gag>Aag	p.E3260K	ZFHX3_uc002fcl.3_Missense_Mutation_p.E2346K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3260					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTCCTTTCTCCTTCTTGGGG	0.592000														62			25		0	0	0.003954	0	0
C7	730	broad.mit.edu	37	5	40955534	40955534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:40955534G>A	uc003jmh.3	+	9	1253	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	380	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATCAGAGGGGGAGGTGCAGGC	0.423000														43			56		0	0	0.003610	0	0
ANO5	203859	broad.mit.edu	37	11	22271783	22271783	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:22271783G>A	uc001mqi.2	+	10	1196	c.879_splice	c.e10-1	p.K293_splice	ANO5_uc001mqj.2_Splice_Site_p.K292_splice	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	293						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTTTCACAGGAATTATTATG	0.318000														16			8		0	0	0.006214	0	0
PTH1R	5745	broad.mit.edu	37	3	46943282	46943282	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:46943282C>T	uc003cqm.3	+	12	1346	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PTH1R_uc021wxg.1_Silent_p.I381I	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	381						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TCATCAATATCGTCCGGGTGC	0.662000														24			16		0	0	0.008871	0	0
CSF3R	1441	broad.mit.edu	37	1	36945038	36945039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:36945038_36945039GG>AA	uc001caw.2	-	2	643_644	c.59_60CC>TT	c.(58-60)ccc>cTT	p.P20L	CSF3R_uc001cav.2_Missense_Mutation_p.P20L|CSF3R_uc001cax.2_Missense_Mutation_p.P20L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	20					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ACTCACTTCCGGGGAGCAGCAG	0.545000														19			4		0	0	0.004672	0	0
KIF26B	55083	broad.mit.edu	37	1	245850440	245850440	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:245850440C>T	uc001ibf.1	+	11	4595	c.4155C>T	c.(4153-4155)atC>atT	p.I1385I	KIF26B_uc001ibg.1_Silent_p.I1003I|KIF26B_uc001ibh.1_Silent_p.I627I	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1385					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGGGTACATCCCCATGAAGA	0.582000														10			3		0	0	0.000602	0	0
ZNF66	0	broad.mit.edu	37	19	20975437	20975437	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:20975437C>T	uc002npe.3	+	1		c.298C>T								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		GAAACCTGGTCTTTCTTGGTG	0.328000														62			10		0	0	0.001368	0	0
CD1E	913	broad.mit.edu	37	1	158325692	158325692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158325692G>A	uc001fse.3	+	3	994	c.701G>A	c.(700-702)gGa>gAa	p.G234E	CD1E_uc010pid.2_Missense_Mutation_p.G232E|CD1E_uc010pie.2_Missense_Mutation_p.G135E|CD1E_uc001fsh.3_Missense_Mutation_p.G45E|CD1E_uc001fry.3_Missense_Mutation_p.G234E|CD1E_uc001fsf.3_Missense_Mutation_p.G234E|CD1E_uc001fsg.3_Missense_Mutation_p.G45E|CD1E_uc009wsv.3_Missense_Mutation_p.G135E|CD1E_uc001fsj.3_Missense_Mutation_p.G144E|CD1E_uc001fsk.3_Missense_Mutation_p.G144E|CD1E_uc001fsa.3_Missense_Mutation_p.G45E|CD1E_uc001fsd.3_Missense_Mutation_p.G234E|CD1E_uc001frz.3_Missense_Mutation_p.G144E|CD1E_uc010pig.2_Missense_Mutation_p.G45E|CD1E_uc001fsc.3_Missense_Mutation_p.G45E|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_5'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	234	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATGTCTCAGGATTCTACCCA	0.592000														30			10		0	0	0.000978	0	0
VPS25	84313	broad.mit.edu	37	17	40928268	40928268	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:40928268C>T	uc002ibi.3	+	4	388	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_032353	NP_115729	Q9BRG1	VPS25_HUMAN	Homo sapiens vacuolar protein sorting 25 homolog (S. cerevisiae) (VPS25), mRNA.	116					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CACAGGTTTCCAGGAGTGGCC	0.458000														49			12		0	0	0.001368	0	0
NLRP4	147945	broad.mit.edu	37	19	56370018	56370018	+	Missense_Mutation	SNP	G	A	A	rs142191212	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:56370018G>A	uc002qmd.4	+	2	1681	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	NLRP4_uc002qmf.3_Missense_Mutation_p.R345Q|NLRP4_uc010etf.3_Missense_Mutation_p.R251Q	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	420	NACHT.						ATP binding	p.R420Q(2)|p.R420W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACGACCTCCGGAGAAATGGG	0.582000														24			29		0	0	0.002836	0	0
GK2	2712	broad.mit.edu	37	4	80327838	80327838	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:80327838G>T	uc003hlu.3	-	0	1535	c.1517C>A	c.(1516-1518)gCc>gAc	p.A506D		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	506					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTCATTACGGCTTTCTTCCA	0.458000														53			37		4.01765e-15	5.5568e-15	0.002222	1	0
WDR90	197335	broad.mit.edu	37	16	700291	700291	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:700291T>G	uc002cii.1	+	3	371	c.317T>G	c.(316-318)tTc>tGc	p.F106C	WDR90_uc002cig.1_Missense_Mutation_p.F106C|WDR90_uc002cih.1_Missense_Mutation_p.F106C|WDR90_uc002cij.1_Non-coding_Transcript	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	106										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCCAACCTCTTCAAGGAGTTT	0.612000														104			70		0	0	0.003610	0	0
KRT33A	3883	broad.mit.edu	37	17	39506842	39506842	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39506842T>G	uc002hwk.1	-	0	215	c.178A>C	c.(178-180)Atg>Ctg	p.M60L		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	60	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGAACTGCATGGTCTCCTTC	0.627000														51			47		0	0	0.003610	0	0
FAM124A	220108	broad.mit.edu	37	13	51825613	51825613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:51825613C>T	uc001vff.2	+	3	386	c.218C>T	c.(217-219)tCc>tTc	p.S73F	FAM124A_uc001vfe.3_Missense_Mutation_p.S37F|FAM124A_uc001vfg.2_Missense_Mutation_p.S37F	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	37								p.S73S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGTGAGCTTTCCGTTGAAGAG	0.522000														46			5		0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126240916	126240916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:126240916C>T	uc003ifj.4	+	0	3350	c.3350C>T	c.(3349-3351)tCg>tTg	p.S1117L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1117	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G1116W(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGGCTGGGTCGTTTGTGGGC	0.388000														51			54		0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	32089224	32089224	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:32089224C>T	uc003jhl.3	+	19	6058	c.5670C>T	c.(5668-5670)ctC>ctT	p.L1890L	PDZD2_uc003jhm.3_Silent_p.L1890L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1890					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTCAGCCTCAAGGGCAAGG	0.552000														14			28		0	0	0.005443	0	0
OR10R2	343406	broad.mit.edu	37	1	158449913	158449913	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158449913C>T	uc010pik.2	+	0	246	c.246C>T	c.(244-246)ttC>ttT	p.F82F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F82F(2)|p.F81F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTACTTCTTCCTTGGCATTC	0.413000														79			74		0	0	0.003610	0	0
ARSH	347527	broad.mit.edu	37	X	2942108	2942108	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:2942108C>T	uc011mhj.2	+	5	948	c.948C>T	c.(946-948)acC>acT	p.T316T		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	316						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCAACCACACCTTGGTGTACT	0.577000														6			8		0	0	0.006214	0	0
IGSF10	285313	broad.mit.edu	37	3	151165794	151165794	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:151165794G>A	uc011bod.2	-	3	1975	c.1975C>T	c.(1975-1977)Caa>Taa	p.Q659*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	659	Ig-like C2-type 2.				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)			ACTGAAACTTGGAAAATCAAA	0.433000														56			17		0	0	0.004007	0	0
CDS1	1040	broad.mit.edu	37	4	85562031	85562031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:85562031C>T	uc011ccv.2	+	9	1418	c.920C>T	c.(919-921)cCa>cTa	p.P307L	CDS1_uc010ike.1_Missense_Mutation_p.P111L	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	307					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTTGTCTGCCCAGTGGAATAC	0.388000														84			24		0	0	0.005443	0	0
KEL	3792	broad.mit.edu	37	7	142640048	142640048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:142640048G>A	uc003wcb.3	-	16	2065	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	619					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTAGGTAATGGAAAGGCAGCA	0.547000														37			33		0	0	0.003755	0	0
LRRC17	10234	broad.mit.edu	37	7	102584759	102584759	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:102584759T>G	uc003vau.3	+	3	1420	c.1031T>G	c.(1030-1032)cTc>cGc	p.L344R	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_3'UTR	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	344					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTTTTGAAACTCTTGTGGCTC	0.373000														64			43		0	0	0.002522	0	0
PIPOX	51268	broad.mit.edu	37	17	27380467	27380468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:27380467_27380468GG>AA	uc002hdr.1	+	3	840_841	c.514_515GG>AA	c.(514-516)gga>AAa	p.G172K		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	172					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	AGTGCGTGACGGAGAGAAGGTG	0.530000														42			15		0	0	0.004672	0	0
TRAF5	7188	broad.mit.edu	37	1	211534078	211534078	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:211534078T>A	uc010psx.2	+	5	696	c.611T>A	c.(610-612)gTa>gAa	p.V204E	TRAF5_uc001hih.3_Missense_Mutation_p.V193E|TRAF5_uc001hii.3_Missense_Mutation_p.V193E|TRAF5_uc010psy.2_Intron|TRAF5_uc001hij.3_Missense_Mutation_p.V193E	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	193					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GAATACCCAGTATTTTGTCCC	0.353000														33			25		0	0	0.007291	0	0
CYTH4	27128	broad.mit.edu	37	22	37688669	37688669	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:37688669G>A	uc003arf.3	+	1	143	c.27G>A	c.(25-27)gcG>gcA	p.A9A	CYTH4_uc003ard.4_Silent_p.A9A|CYTH4_uc003are.2_Silent_p.A9A|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	9					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TAGAGCCCGCGGAGCTGAGCA	0.612000														36			24		0	0	0.004656	0	0
ICA1L	130026	broad.mit.edu	37	2	203680689	203680689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:203680689G>A	uc002uzh.1	-	7	892	c.728C>T	c.(727-729)tCc>tTc	p.S243F	ICA1L_uc002uzi.1_Missense_Mutation_p.S243F|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	243	AH.							p.S243P(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGAATTTGGGACATCATTCG	0.388000														103			138		0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215890417	215890417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:215890417G>A	uc002vew.3	-	10	1487	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	ABCA12_uc002vev.3_Missense_Mutation_p.P105S|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	423					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P423T(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGACTTCAGGAACTGGAGGA	0.299000														26			27		0	0	0.002445	0	0
TECTA	7007	broad.mit.edu	37	11	121008498	121008498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:121008498G>A	uc010rzo.2	+	9	3310	c.3310G>A	c.(3310-3312)Ggc>Agc	p.G1104S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1104	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CATCGTCTCAGGCTACGGCCA	0.587000														6			5		0	0	0.000602	0	0
ZFHX3	463	broad.mit.edu	37	16	72822404	72822404	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:72822404G>A	uc002fck.3	-	9	10444	c.9771C>T	c.(9769-9771)ccC>ccT	p.P3257P	ZFHX3_uc002fcl.3_Silent_p.P2343P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3257					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTCCTTCTTGGGGACAGGCA	0.587000														56			43		0	0	0.002222	0	0
PDDC1	347862	broad.mit.edu	37	11	773625	773625	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:773625G>A	uc001lrd.3	-	3	277	c.252C>T	c.(250-252)gcC>gcT	p.A84A	PDDC1_uc001lrc.3_Silent_p.A84A|PDDC1_uc010qwm.2_Silent_p.A34A|PDDC1_uc001lrf.1_Intron|PDDC1_uc001lrg.1_Intron|PDDC1_uc009ycg.3_Silent_p.A34A|PDDC1_uc021qbo.1_Silent_p.A34A|PDDC1_uc010qwn.1_Non-coding_Transcript|PDDC1_uc010qwo.1_Non-coding_Transcript|PDDC1_uc010qwp.1_Intron|PDDC1_uc010qwq.1_Intron|PDDC1_uc010qwr.1_Silent_p.A84A|PDDC1_uc010qws.1_Silent_p.A34A	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Homo sapiens Parkinson disease 7 domain containing 1 (PDDC1), mRNA.	84						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATGGTACCGGGCACCTGGGG	0.642000														9			7		0	0	0.004482	0	0
TAAR8	83551	broad.mit.edu	37	6	132874774	132874774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:132874774C>T	uc011ecj.2	+	0	943	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	315						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TCTATTTTATCCTTGGTTTAG	0.333000														62			48		0	0	0.003610	0	0
TCF7L2	6934	broad.mit.edu	37	10	114905797	114905797	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:114905797G>A	uc021pyi.1	+	7	1323	c.816G>A	c.(814-816)acG>acA	p.T272T	TCF7L2_uc001lah.3_Silent_p.T249T|TCF7L2_uc010qro.2_Silent_p.T249T|TCF7L2_uc001lae.4_Silent_p.T272T|TCF7L2_uc010qrm.2_Silent_p.T272T|TCF7L2_uc010qrn.2_Silent_p.T215T|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Silent_p.T249T|TCF7L2_uc021pyj.1_Silent_p.T272T|TCF7L2_uc021pyk.1_Silent_p.T249T|TCF7L2_uc021pyl.1_Silent_p.T249T|TCF7L2_uc010qrp.2_Silent_p.T249T|TCF7L2_uc021pym.1_Silent_p.T245T|TCF7L2_uc021pyn.1_Silent_p.T272T|TCF7L2_uc021pyo.1_Silent_p.T272T|TCF7L2_uc021pyp.1_Silent_p.T268T|TCF7L2_uc010qrq.2_Silent_p.T245T|TCF7L2_uc001lac.4_Silent_p.T249T|TCF7L2_uc010qrk.2_Silent_p.T249T|TCF7L2_uc001lad.4_Silent_p.T245T|TCF7L2_uc001lag.4_Silent_p.T296T|TCF7L2_uc001laf.4_Silent_p.T249T|TCF7L2_uc010qrl.2_Silent_p.T249T|TCF7L2_uc010qrr.2_Silent_p.T187T|TCF7L2_uc010qrs.2_Silent_p.T143T|TCF7L2_uc010qrt.2_Silent_p.T143T|TCF7L2_uc010qru.2_Silent_p.T166T|TCF7L2_uc010qrv.2_Silent_p.T89T|TCF7L2_uc010qrw.2_5'UTR|TCF7L2_uc010qrx.2_Silent_p.T129T	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	272	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACCCAATCACGACAGGAGGAT	0.517000			T	VTI1A	colorectal									184			120		0	0	0.003610	0	0
MYL6B	140465	broad.mit.edu	37	12	56548888	56548888	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:56548888C>T	uc001sjs.3	+	3	510	c.252C>T	c.(250-252)atC>atT	p.I84I	MYL6B_uc009zoo.3_Silent_p.I84I|MYL6B_uc001sjt.3_Silent_p.I84I	NM_002475	NP_002466	P14649	MYL6B_HUMAN	Homo sapiens myosin, light chain 6B, alkali, smooth muscle and non-muscle (MYL6B), transcript variant 2, mRNA.	84	EF-hand 1.				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			ATGGCAAGATCCTGTACAGCC	0.577000														50			42		0	0	0.002522	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510224	41510225	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41510224_41510225CC>TT	uc002opr.1	+	2	364_365	c.357_358CC>TT	c.(355-360)aaccgc>aaTTgc	p.R120C	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.R80C	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	120					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R120C(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCAATGGAAACCGCTGGAAGGT	0.545000														18			4		0	0	0.004672	0	0
TNXB	7148	broad.mit.edu	37	6	32012804	32012804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32012804G>A	uc003nzl.2	-	31	11102	c.10900C>T	c.(10900-10902)Ctc>Ttc	p.L3634F	TNXB_uc003nzg.1_Missense_Mutation_p.L65F|TNXB_uc003nzh.1_Missense_Mutation_p.L103F	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3681	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAGCTGAGAGGGGCCCCAGG	0.642000														67			24		0	0	0.005443	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750415	167750415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:167750415G>A	uc011bpe.1	-	8	1413	c.1069C>T	c.(1069-1071)Ctt>Ttt	p.L357F	GOLIM4_uc003ffe.2_Missense_Mutation_p.L357F|GOLIM4_uc011bpf.1_Missense_Mutation_p.L329F|GOLIM4_uc011bpg.1_Missense_Mutation_p.L329F	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	357	Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCTCCTCAAGATGTTCTGCT	0.572000														85			27		0	0	0.005443	0	0
USP53	54532	broad.mit.edu	37	4	120177660	120177660	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:120177660T>A	uc003ics.4	+	7	1617	c.551T>A	c.(550-552)aTt>aAt	p.I184N	USP53_uc003icr.4_Missense_Mutation_p.I184N|USP53_uc003icu.4_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	184					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTGCGGTACATTTCTACAACA	0.318000														40			41		0	0	0.003610	0	0
CCDC66	285331	broad.mit.edu	37	3	56651388	56651388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:56651388C>T	uc003dhz.3	+	13	2179	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	CCDC66_uc003dhy.3_Missense_Mutation_p.P334S|CCDC66_uc003dhu.3_Missense_Mutation_p.P664S|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Missense_Mutation_p.P66S	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	698										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAGAAATATCCTAAAAGGCC	0.348000														43			10		0	0	0.001368	0	0
BRF1	2972	broad.mit.edu	37	14	105752682	105752682	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:105752682G>A	uc001yqp.2	-	1	579	c.216C>T	c.(214-216)ggC>ggT	p.G72G	BRF1_uc010tyo.1_5'UTR|BRF1_uc010typ.1_5'UTR|BRF1_uc010axg.1_Intron|BRF1_uc001yqr.3_Silent_p.G72G	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	72					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCACGTGGAAGCCGCCACCCA	0.552000														11			12		0	0	0.002450	0	0
MXRA5	25878	broad.mit.edu	37	X	3229661	3229661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:3229661C>T	uc004crg.4	-	6	6740	c.6583G>A	c.(6583-6585)Gat>Aat	p.D2195N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2195	Ig-like C2-type 6.					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)				ATTCTGCTATCAAAACTACAG	0.428000														15			11		0	0	0.001368	0	0
CASR	846	broad.mit.edu	37	3	122001041	122001041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:122001041G>A	uc003eew.4	+	5	2158	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	CASR_uc003eev.4_Missense_Mutation_p.E564K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	564					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)	CTGCTGCTTTGAGTGTGTGGA	0.597000														60			14		0	0	0.004990	0	0
ZNF292	23036	broad.mit.edu	37	6	87970462	87970462	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:87970462A>G	uc003plm.4	+	7	7156	c.7115A>G	c.(7114-7116)aAt>aGt	p.N2372S		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGGCTAGAAATGATGCCCTG	0.338000														38			11		0	0	0.008291	0	0
ABHD8	79575	broad.mit.edu	37	19	17412068	17412068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:17412068C>T	uc002ngb.4	-	1	598	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	120							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCTGCCAGCTCCACCTCCAGG	0.746000														8			10		0	0	0.000978	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73922530	73922530	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:73922530C>T	uc003uaq.3	+	1	513	c.120C>T	c.(118-120)tcC>tcT	p.S40S	GTF2IRD1_uc010lbq.3_Silent_p.S40S|GTF2IRD1_uc003uap.3_Silent_p.S40S|GTF2IRD1_uc003uar.1_Silent_p.S40S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	40						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCTTAGACTCCATGGTGAGTG	0.612000														24			26		0	0	0.002096	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17067919	17067919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:17067919C>T	uc003wxe.3	+	9	1277	c.880C>T	c.(880-882)Cca>Tca	p.P294S		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	294						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CTGCTCCTTTCCAACTTGCCT	0.383000														35			25		0	0	0.002096	0	0
NBEA	26960	broad.mit.edu	37	13	35615185	35615185	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:35615185G>A	uc021rid.1	+	1	944	c.410G>A	c.(409-411)tGg>tAg	p.W137*	NBEA_uc021ric.1_Nonsense_Mutation_p.W137*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	137						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAGAAATATGGAGCATGTTT	0.383000														55			64		0	0	0.003610	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244843	1244843	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1244843C>T	uc003jby.2	+	10	1740	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	539					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCTCCTGTTCTGGAAGCCAC	0.622000														30			10		0	0	0.008291	0	0
NRG3	10718	broad.mit.edu	37	10	84118593	84118593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:84118593G>A	uc021pvc.1	+	1	949	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	NRG3_uc010qlz.1_Missense_Mutation_p.E308K|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.E308K|NRG3_uc001kcp.2_Missense_Mutation_p.E87K|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Missense_Mutation_p.E87K|NRG3_uc021pve.1_Missense_Mutation_p.E112K|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Missense_Mutation_p.E112K|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.E138K|NRG3_uc021pvk.1_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	308	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			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)		CTTTGTGATCGAAACCCTGAC	0.557000														20			19		0	0	0.008871	0	0
ADAM28	10863	broad.mit.edu	37	8	24184083	24184083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:24184083G>A	uc003xdy.3	+	9	990	c.907G>A	c.(907-909)Gga>Aga	p.G303R	ADAM28_uc003xdx.3_Missense_Mutation_p.G303R|ADAM28_uc011kzz.2_Missense_Mutation_p.G70R|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'UTR	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	303	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGAACTTGCTGGAACGACTGT	0.353000														102			30		0	0	0.001786	0	0
ABCC9	10060	broad.mit.edu	37	12	22028599	22028599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:22028599C>T	uc001rfh.3	-	14	2101	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ABCC9_uc001rfi.1_Missense_Mutation_p.R694Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	694	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R694Q(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTTGGAATTCGAATATCTAT	0.308000														48			14		0	0	0.008871	0	0
CARD14	79092	broad.mit.edu	37	17	78162266	78162266	+	Missense_Mutation	SNP	G	A	A	rs144570537		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:78162266G>A	uc002jxw.1	+	4	960	c.766G>A	c.(766-768)Gac>Aac	p.D256N	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.D256N|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.D19N|CARD14_uc010dhu.1_Missense_Mutation_p.D54N	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	256					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GACAGCCAGCGACCAGGAGTC	0.592000														47			5		0	0	0.001168	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966933	7966933	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:7966933C>T	uc010sgh.2	-	9	1608	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K	SLC2A14_uc001qtk.3_Silent_p.K514K|SLC2A14_uc001qtl.3_Silent_p.K491K|SLC2A14_uc001qtm.3_Silent_p.K491K|SLC2A14_uc010sgg.2_Silent_p.K405K|SLC2A14_uc001qtn.3_Silent_p.K514K|SLC2A14_uc001qto.3_Silent_p.K149K	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	514					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGGTGGTCTCCTTAGCAGGCT	0.547000														21			60		0	0	0.003610	0	0
SLC14A1	6563	broad.mit.edu	37	18	43328349	43328349	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:43328349A>C	uc010dnk.3	+	9	1345	c.1123A>C	c.(1123-1125)Acg>Ccg	p.T375P	SLC14A1_uc002lbi.4_Missense_Mutation_p.T187P|SLC14A1_uc010xcn.2_Missense_Mutation_p.T319P|SLC14A1_uc002lbf.4_Missense_Mutation_p.T319P|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.T214P|SLC14A1_uc002lbh.4_Missense_Mutation_p.T211P|SLC14A1_uc002lbj.4_Missense_Mutation_p.T375P|SLC14A1_uc002lbk.4_Missense_Mutation_p.T319P|SLC14A1_uc021ujg.1_Silent_p.S269S	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	319						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGCCCTGTTCACGGCCTATCT	0.418000														69			31		0	0	0.003271	0	0
TPPP	11076	broad.mit.edu	37	5	677879	677879	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:677879G>A	uc003jbg.4	-	0	1015	c.297C>T	c.(295-297)gtC>gtT	p.V99V	TPPP_uc003jbh.4_Silent_p.V99V	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	99	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TCTTGCTGAAGACGATGTCCA	0.642000														16			18		0	0	0.001882	0	0
ENAM	10117	broad.mit.edu	37	4	71507736	71507736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:71507736C>T	uc011caw.1	+	8	874	c.593C>T	c.(592-594)cCt>cTt	p.P198L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	198					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTACAGAATCCTTACTTTGGA	0.353000														153			43		0	0	0.003610	0	0
NOS2	4843	broad.mit.edu	37	17	26096159	26096159	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:26096159G>A	uc002gzu.3	-	16	2142	c.1878C>T	c.(1876-1878)ctC>ctT	p.L626L	NOS2_uc010wab.1_Silent_p.L591L	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	626	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGCTGGAGCCGAGGCCAAACA	0.612000														7			7		0	0	0.003080	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966960	7966960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:7966960C>T	uc010sgh.2	-	9	1581	c.1560G>A	c.(1558-1560)atG>atA	p.M520I	SLC2A14_uc001qtk.3_Missense_Mutation_p.M505I|SLC2A14_uc001qtl.3_Missense_Mutation_p.M482I|SLC2A14_uc001qtm.3_Missense_Mutation_p.M482I|SLC2A14_uc010sgg.2_Missense_Mutation_p.M396I|SLC2A14_uc001qtn.3_Missense_Mutation_p.M505I|SLC2A14_uc001qto.3_Missense_Mutation_p.M140I	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	505					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGTTCATCCCCATGACGCCGT	0.572000														46			22		0	0	0.008361	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445766	29445766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:29445766C>T	uc003aeg.3	+	7	1597	c.1597C>T	c.(1597-1599)Cac>Tac	p.H533Y	ZNRF3_uc021wnq.1_Missense_Mutation_p.H433Y	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	533						integral to membrane	zinc ion binding	p.E532D(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGCTGCTATCACGGCCACCG	0.687000														6			9		0	0	0.006214	0	0
NYAP2	57624	broad.mit.edu	37	2	226447216	226447216	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:226447216G>A	uc002voe.2	+	3	1258	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.T131T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	361	Pro-rich.																TGGAGGTCACGAAGCTTCCCG	0.642000														5			10		0	0	0.008291	0	0
HOXB2	3212	broad.mit.edu	37	17	46622015	46622015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:46622015G>A	uc002inm.3	-	0	379	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	87					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						ggggcagcggggagtggcggc	0.697000														9			6		0	0	0.006214	0	0
COL2A1	1280	broad.mit.edu	37	12	48378799	48378799	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:48378799G>A	uc001rqu.3	-	26	1993	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.F535F	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	604	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGGCCAGGGAAACCCATGA	0.567000														13			11		0	0	0.000978	0	0
FRMPD2	143162	broad.mit.edu	37	10	49376703	49376703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:49376703C>T	uc001jgi.3	-	26	3803	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E1126K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E1127K|FRMPD2_uc001jgf.3_Missense_Mutation_p.E169K|FRMPD2_uc001jgg.3_Missense_Mutation_p.E110K|FRMPD2_uc001jgk.3_Missense_Mutation_p.E110K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1158	PDZ 3.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGCGTGACTTCCTGTGGGGCC	0.567000														1			28		0	0	0.001786	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802181	24802182	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:24802181_24802182CC>TT	uc002dmm.3	+	5	2332_2333	c.2218_2219CC>TT	c.(2218-2220)cct>TTt	p.P740F	TNRC6A_uc010bxs.3_Missense_Mutation_p.P487F|TNRC6A_uc010vcc.1_Missense_Mutation_p.P487F|TNRC6A_uc002dmn.3_Missense_Mutation_p.P487F|TNRC6A_uc002dmo.3_Missense_Mutation_p.P487F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	740	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGAAACATCACCTAGAGGGGAA	0.470000														19			9		0	0	0.004672	0	0
CD1A	909	broad.mit.edu	37	1	158225110	158225110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158225110C>T	uc001frt.3	+	1	828	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	99					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGAGGGAATTCGTAGATACGC	0.468000														27			6		0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240370439	240370439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:240370439G>A	uc010pye.2	+	5	2564	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E	FMN2_uc010pyd.2_Missense_Mutation_p.G776E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	776	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCTGAAAGTGGACCTCAGACA	0.572000														41			7		0	0	0.004482	0	0
WDR49	151790	broad.mit.edu	37	3	167277918	167277918	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:167277918G>A	uc003fev.1	-	4	889	c.585C>T	c.(583-585)atC>atT	p.I195I	WDR49_uc003feu.1_Silent_p.I20I|WDR49_uc011bpd.1_Silent_p.I248I|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	195										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATAGTGCTGATTTCTGCGT	0.458000														50			54		0	0	0.003610	0	0
IQSEC3	440073	broad.mit.edu	37	12	176580	176580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:176580G>A	uc001qhw.2	+	0	532	c.532G>A	c.(532-534)Ggc>Agc	p.G178S		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	178					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTCGGCAAGGGCGTCCTGAG	0.647000														17			7		0	0	0.000978	0	0
DBX1	120237	broad.mit.edu	37	11	20178601	20178601	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:20178601C>T	uc021qez.1	-	2	654	c.651G>A	c.(649-651)ctG>ctA	p.L217L	DBX1_uc021qey.1_Silent_p.L218L	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	218					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CTTTCAGGCCCAGCTTGGCCG	0.642000														50			7		0	0	0.008291	0	0
ALG6	29929	broad.mit.edu	37	1	63872018	63872018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:63872018C>T	uc021oof.1	+	5	682	c.377C>T	c.(376-378)cCt>cTt	p.P126L		NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	126					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.P126R(2)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATTTACATACCTGCAGTGGTT	0.363000														42			12		0	0	0.004007	0	0
NLRP3	114548	broad.mit.edu	37	1	247588301	247588301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247588301G>A	uc001icr.3	+	4	1694	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	NLRP3_uc001ics.3_Missense_Mutation_p.S519N|NLRP3_uc001icu.3_Missense_Mutation_p.S519N|NLRP3_uc001icw.3_Missense_Mutation_p.S519N|NLRP3_uc001icv.3_Missense_Mutation_p.S519N|NLRP3_uc010pyw.2_Missense_Mutation_p.S517N|NLRP3_uc001ict.1_Missense_Mutation_p.S517N	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	519	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGTTCTACAGCTTCATCCAC	0.507000														14			26		0	0	0.007291	0	0
DNAJB6	10049	broad.mit.edu	37	7	157155859	157155859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:157155859C>T	uc003wnk.3	+	2	225	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	DNAJB6_uc003wnj.3_Missense_Mutation_p.R24W|DNAJB6_uc003wnl.3_Missense_Mutation_p.R11W|DNAJB6_uc011kvy.2_Intron|DNAJB6_uc011kvz.2_Missense_Mutation_p.R24W|DNAJB6_uc010lqt.3_Missense_Mutation_p.R24W	NM_058246	NP_490647	O75190	DNJB6_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA.	24	Interaction with HSP70.|J.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCAAGATATCGGAAACTGGC	0.383000														9			12		0	0	0.000978	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025191	16025191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:16025191C>T	uc002nbu.2	-	11	1357	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	CYP4F11_uc010eab.1_Missense_Mutation_p.R419Q|CYP4F11_uc002nbt.2_Missense_Mutation_p.D441N	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	441					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CGGAAGGGGTCGTAGACCTGC	0.587000														73			17		0	0	0.004990	0	0
CASR	846	broad.mit.edu	37	3	121981226	121981226	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:121981226C>T	uc003eew.4	+	3	1782	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	CASR_uc003eev.4_Silent_p.S448S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	448					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)	CCAATGGCTCCTGTGCAGACA	0.473000														76			18		0	0	0.007413	0	0
SEC31B	25956	broad.mit.edu	37	10	102255225	102255225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:102255225G>A	uc001krc.1	-	18	2491	c.2389C>T	c.(2389-2391)Ccc>Tcc	p.P797S	SEC31B_uc010qpo.1_Missense_Mutation_p.P796S|SEC31B_uc001krd.1_Missense_Mutation_p.P334S|SEC31B_uc001krf.1_Missense_Mutation_p.P334S|SEC31B_uc001kre.1_Missense_Mutation_p.P334S|SEC31B_uc001krg.1_Missense_Mutation_p.P366S	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	797					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane		p.P797R(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CGGGGGAAGGGGAAAGGGGGA	0.493000														19			16		0	0	0.006122	0	0
ELAC2	60528	broad.mit.edu	37	17	12899064	12899064	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:12899064G>A	uc002gnz.4	-	18	1881	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Silent_p.L216L|ELAC2_uc002gnx.4_Silent_p.L348L|ELAC2_uc010vvo.2_Silent_p.L386L|ELAC2_uc010vvp.2_Silent_p.L569L|ELAC2_uc010vvq.2_Silent_p.L587L|ELAC2_uc010vvr.2_Silent_p.L548L	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	588					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGTACTGCTGGAGCCAGGCTT	0.592000														12			9		0	0	0.006214	0	0
OR52A1	23538	broad.mit.edu	37	11	5173160	5173160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5173160C>T	uc010qyy.2	-	0	440	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	147					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCATAGTTCCTATCTGAAT	0.488000														21			28		0	0	0.007291	0	0
CARD8	22900	broad.mit.edu	37	19	48733884	48733884	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:48733884G>A	uc010xzj.2	-	6	889	c.846C>T	c.(844-846)gcC>gcT	p.A282A	CARD8_uc002pii.4_Silent_p.A282A|CARD8_uc010xzi.1_Silent_p.A177A|CARD8_uc010els.3_Silent_p.A215A|CARD8_uc010xzk.2_Silent_p.A201A|CARD8_uc002pie.4_Silent_p.A176A|CARD8_uc002pif.4_Silent_p.A176A|CARD8_uc021uwq.1_Silent_p.A176A|CARD8_uc021uwr.1_Silent_p.A176A|CARD8_uc002pig.4_Silent_p.A7A|CARD8_uc002pih.4_Silent_p.A232A|CARD8_uc010xzl.2_Silent_p.A232A|CARD8_uc010xzm.2_Silent_p.A282A	NM_001184900	NP_001171829	Q9Y2G2	CARD8_HUMAN	Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA.	176					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	NACHT domain binding|caspase activator activity|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GCTCCACCCGGGCTGGATGCT	0.577000														22			68		0	0	0.003610	0	0
SERPINB8	5271	broad.mit.edu	37	18	61650953	61650953	+	Missense_Mutation	SNP	G	A	A	rs146695124	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:61650953G>A	uc002ljv.3	+	4	734	c.565G>A	c.(565-567)Gag>Aag	p.E189K	SERPINB8_uc002ljt.3_Missense_Mutation_p.E189K|SERPINB8_uc002lju.3_Missense_Mutation_p.E189K|SERPINB8_uc010xex.2_Missense_Mutation_p.E7K	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	189					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.E189V(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TAAAACCAACGAGGTAGGGAA	0.343000														41			8		0	0	0.004482	0	0
FAT3	120114	broad.mit.edu	37	11	92531893	92531893	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:92531893T>C	uc001pdj.4	+	8	5731	c.5714T>C	c.(5713-5715)gTt>gCt	p.V1905A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1905	Cadherin 17.				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)				GTTCTGAAAGTTAGTGCCACA	0.433000										TCGA Ovarian(4;0.039)				17			243		0	0	0.003610	0	0
OR4K15	81127	broad.mit.edu	37	14	20444368	20444368	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20444368T>C	uc010tkx.2	+	0	691	c.691T>C	c.(691-693)Tct>Cct	p.S231P		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCTTTCTTTCTCTGAGTTC	0.448000														64			57		0	0	0.003610	0	0
ZNF570	148268	broad.mit.edu	37	19	37975998	37975998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:37975998C>T	uc010efl.1	+	5	1761	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	ZNF570_uc002ogk.1_Missense_Mutation_p.H492Y|ZNF570_uc010xtr.1_Missense_Mutation_p.H289Y	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATACTGGAGA	0.433000														33			29		0	0	0.008361	0	0
CFH	3075	broad.mit.edu	37	1	196646648	196646648	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:196646648T>G	uc001gtj.4	+	4	710	c.470T>G	c.(469-471)aTt>aGt	p.I157S	CFH_uc001gti.4_Missense_Mutation_p.I157S|CFH_uc009wyw.3_Missense_Mutation_p.I157S|CFH_uc009wyx.3_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATGGAAAAATTGTCAGTAGT	0.353000														26			29		0	0	0.008361	0	0
MYLK3	91807	broad.mit.edu	37	16	46771661	46771661	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:46771661C>T	uc002eei.4	-	2	1079	c.963G>A	c.(961-963)caG>caA	p.Q321Q	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	321					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTGCCCTGGCCTGGGCTGGCA	0.667000														30			11		0	0	0.001368	0	0
CNTROB	116840	broad.mit.edu	37	17	7839764	7839765	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7839764_7839765CC>TT	uc002gjp.3	+	5	1625_1626	c.675_676CC>TT	c.(673-678)gaccgc>gaTTgc	p.R226C	CNTROB_uc002gjq.3_Missense_Mutation_p.R226C|CNTROB_uc002gjr.3_Missense_Mutation_p.R128C|CNTROB_uc010vum.1_5'Flank	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	226					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGGCTGCCGACCGCAAGAAAGA	0.490000														57			13		0	0	0.004672	0	0
SH3TC1	54436	broad.mit.edu	37	4	8214498	8214498	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:8214498C>T	uc003gkv.4	+	3	419	c.318C>T	c.(316-318)ctC>ctT	p.L106L	SH3TC1_uc003gkw.4_Silent_p.L30L|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	106							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGCAGACCCTCCGGGGCCAGC	0.677000														6			5		0	0	0.001984	0	0
RCAN2	10231	broad.mit.edu	37	6	46190989	46190989	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:46190989G>A	uc003oyc.2	-	4	774	c.621C>T	c.(619-621)gtC>gtT	p.V207V	RCAN2_uc003oyb.2_Silent_p.V161V|RCAN2_uc003oyd.2_Silent_p.V207V	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	161					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACACGTGCACGACGACACTTG	0.522000														114			39		0	0	0.002522	0	0
RSPH1	89765	broad.mit.edu	37	21	43897548	43897548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:43897548C>T	uc002zbg.3	-	6	685	c.580G>A	c.(580-582)Gga>Aga	p.G194R		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	194					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCCTCTTCTCCTCTTTCCTAT	0.393000														32			18		0	0	0.002299	0	0
KIF19	124602	broad.mit.edu	37	17	72347046	72347046	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72347046T>G	uc002jkm.4	+	12	1725	c.1587_splice	c.e12+2	p.K529_splice	KIF19_uc002jkj.2_Missense_Mutation_p.V530G|KIF19_uc002jkk.2_Missense_Mutation_p.V488G|KIF19_uc002jkl.2_Splice_Site_p.K487_splice	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	529					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGCAGAAGGTGTCCAGGGTT	0.637000														75			7		0	0	0.003080	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858434	27858434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:27858434G>A	uc003nka.3	-	0	137	c.137C>T	c.(136-138)aCc>aTc	p.T46I	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.	46					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CAAGGCCACGGTGCCTGGCCT	0.632000														54			10		0	0	0.008291	0	0
NR5A2	2494	broad.mit.edu	37	1	200080416	200080416	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:200080416G>A	uc001gvb.3	+	5	1403	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	NR5A2_uc001gvc.3_Silent_p.K353K|NR5A2_uc009wzh.3_Silent_p.K359K|NR5A2_uc010pph.2_Silent_p.K327K	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	399					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TACATGGAAAGGAAGGATCCA	0.408000														25			21		0	0	0.002299	0	0
PSMB8	5696	broad.mit.edu	37	6	32809442	32809442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32809442C>T	uc003oce.3	-	4	651	c.608G>A	c.(607-609)gGg>gAg	p.G203E	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.3_5'Flank|PSMB8_uc003ocf.3_Missense_Mutation_p.G199E|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	203					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						ATAAGTGTTCCCACTACCCGT	0.502000														109			63		0	0	0.003610	0	0
TEX11	56159	broad.mit.edu	37	X	69945116	69945116	+	Silent	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:69945116A>G	uc004dyl.3	-	12	1128	c.966T>C	c.(964-966)ctT>ctC	p.L322L	TEX11_uc004dyk.3_5'Flank|TEX11_uc004dym.3_Silent_p.L307L	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	322							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCATACCTTCAAGGAGTTCTT	0.308000														3			57		0	0	0.003610	0	0
FILIP1	27145	broad.mit.edu	37	6	76022779	76022779	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:76022779C>T	uc010kbe.3	-	5	3308	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	FILIP1_uc003phy.1_Silent_p.A923A|FILIP1_uc003phz.3_Silent_p.A824A|FILIP1_uc003pia.3_Silent_p.A923A|FILIP1_uc003pib.1_Silent_p.A675A	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTCCAAAGTCGCAGTGCTGT	0.473000														58			35		0	0	0.006999	0	0
PURB	5814	broad.mit.edu	37	7	44924288	44924288	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:44924288C>T	uc003tme.3	-	0	673	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	Homo sapiens purine-rich element binding protein B (PURB), mRNA.	220	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						AGGTGCCCTCCGGGAGCTCTC	0.662000														34			18		0	0	0.008871	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769798	112769799	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112769798_112769799CC>GT	uc003kqm.2	-	0	930_931	c.738_739GG>AC	c.(736-741)aaggac>aaACac	p.D247H	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	247	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TAGATGAGGTCCTTGCACTCGC	0.604000														26			5		0	0	0.004672	0	0
C2CD3	26005	broad.mit.edu	37	11	73753138	73753138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:73753138G>A	uc001ouu.2	-	28	5848	c.5621C>T	c.(5620-5622)tCa>tTa	p.S1874L	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1874						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGACAAAGGTGATGTGGTCAG	0.493000														66			16		0	0	0.003163	0	0
HMCN1	83872	broad.mit.edu	37	1	186064617	186064617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:186064617G>A	uc001grq.1	+	67	10766	c.10537G>A	c.(10537-10539)Gga>Aga	p.G3513R	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3513	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATGAAGCTGGAGAAGTCAG	0.428000														32			19		0	0	0.001882	0	0
PRB2	653247	broad.mit.edu	37	12	11546390	11546390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:11546390C>T	uc010shk.1	-	2	657	c.622G>A	c.(622-624)Gga>Aga	p.G208R		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)			TTGTTGCCTCCTTGTGGGGGT	0.597000														64			37		0	0	0.003610	0	0
SMOC2	64094	broad.mit.edu	37	6	168927051	168927051	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:168927051G>A	uc003qwr.2	+	2	502	c.282G>A	c.(280-282)agG>agA	p.R94R	SMOC2_uc003qws.2_Silent_p.R94R	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	94	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TGGCCGAAAGGAAGTATACCC	0.507000														18			14		0	0	0.006122	0	0
ECE1	1889	broad.mit.edu	37	1	21562382	21562382	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:21562382G>A	uc001bek.2	-	12	1602	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	ECE1_uc001bem.2_Silent_p.F493F|ECE1_uc001bej.2_Silent_p.F497F|ECE1_uc001bei.2_Silent_p.F506F|ECE1_uc010odl.1_Silent_p.F509F|ECE1_uc009vqa.1_Silent_p.F509F	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	509					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GATCCATGATGAAGTTGGGGT	0.552000														64			17		0	0	0.001882	0	0
CRHR1	1394	broad.mit.edu	37	17	43907558	43907558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43907558C>T	uc010dap.3	+	6	885	c.620C>T	c.(619-621)cCc>cTc	p.P207L	CRHR1_uc010wjx.2_Missense_Mutation_p.P3L|CRHR1_uc002ijp.3_Missense_Mutation_p.P77L|CRHR1_uc002ijm.3_Missense_Mutation_p.P178L|CRHR1_uc002ijn.3_Missense_Mutation_p.P138L|CRHR1_uc010dar.3_Missense_Mutation_p.P178L|CRHR1_uc010dao.3_Missense_Mutation_p.P77L|CRHR1_uc010daq.3_Missense_Mutation_p.P3L|CRHR1_uc021tyu.1_Missense_Mutation_p.P3L|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	207					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACCATGAGCCCCGAGGTCCAC	0.642000														15			7		0	0	0.001984	0	0
PDGFC	56034	broad.mit.edu	37	4	157732075	157732075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:157732075C>T	uc003iph.2	-	2	900	c.409G>A	c.(409-411)Gga>Aga	p.G137R	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_5'UTR|PDGFC_uc011cir.2_Intron	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	137	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATTTGATTTCCTTTAGAAATC	0.393000														29			30		0	0	0.008361	0	0
PPRC1	23082	broad.mit.edu	37	10	103899829	103899829	+	Silent	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:103899829C>A	uc001kum.3	+	4	1603	c.1564C>A	c.(1564-1566)Cgg>Agg	p.R522R	PPRC1_uc001kun.3_Silent_p.R402R|PPRC1_uc010qqj.2_Silent_p.R522R|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.	522					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)		GGGGAAGCCCCGGGCTTGGGC	0.537000														43			34		5.73237e-09	7.903e-09	0.006230	1	0
GABRB2	2561	broad.mit.edu	37	5	160761766	160761766	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:160761766C>T	uc003lys.1	-	7	1043	c.825G>A	c.(823-825)gtG>gtA	p.V275V	GABRB2_uc011deh.1_Silent_p.V114V|GABRB2_uc003lyr.1_Silent_p.V275V|GABRB2_uc003lyt.1_Silent_p.V275V|GABRB2_uc021yhg.1_Silent_p.V212V	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	275					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TACCTAATGCCACCCTTGCAG	0.438000														16			22		0	0	0.002780	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98355379	98355379	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:98355379C>T	uc001kmq.3	-	16	2501	c.2373G>A	c.(2371-2373)agG>agA	p.R791R	PIK3AP1_uc001kmo.3_Silent_p.R390R|PIK3AP1_uc001kmp.3_Silent_p.R613R	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	791	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGAAGGTCTCCCTGGTCGGAG	0.433000														44			36		0	0	0.004878	0	0
PSG5	5673	broad.mit.edu	37	19	43680079	43680079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:43680079C>T	uc002ovu.3	-	2	783	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E218K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCCGTATTTCACATTCATAG	0.517000														98			32		0	0	0.002222	0	0
MAEL	84944	broad.mit.edu	37	1	166974589	166974589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:166974589G>A	uc001gdy.1	+	7	871	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	MAEL_uc021peh.1_Missense_Mutation_p.R211Q|MAEL_uc001gdz.1_Missense_Mutation_p.R236Q|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	267					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.R267*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTTGGATTCGAAGCCTCCTA	0.403000														44			17		0	0	0.004007	0	0
CYLC1	1538	broad.mit.edu	37	X	83126557	83126557	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:83126557G>A	uc004eei.1	+	2	177	c.156G>A	c.(154-156)ttG>ttA	p.L52L	CYLC1_uc004eeh.1_Silent_p.L51L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	52					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAGACCTTTGAAATCACAAA	0.299000														2			33		0	0	0.004289	0	0
OR4N4	283694	broad.mit.edu	37	15	22382676	22382676	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:22382676C>T	uc001yuc.1	+	6	1185	c.204C>T	c.(202-204)ttC>ttT	p.F68F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F68F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTTGGCCTTCCTGGATGCAT	0.483000														101			12		0	0	0.004656	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413779	22413779	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:22413779C>T	uc001yuf.3	+	0	318	c.78C>T	c.(76-78)ttC>ttT	p.F26F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TCTTGCACTTCCTTGGAGGAG	0.493000														73			15		0	0	0.002299	0	0
CRYZ	1429	broad.mit.edu	37	1	75172857	75172857	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:75172857A>G	uc001dgk.3	-	7	1167	c.662T>C	c.(661-663)aTt>aCt	p.I221T	CRYZ_uc001dgj.3_Missense_Mutation_p.I221T|CRYZ_uc001dgl.3_Intron|CRYZ_uc001dgm.3_Missense_Mutation_p.I84T	NM_001130042	NP_001880	Q08257	QOR_HUMAN	Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA.	221					protein homotetramerization|visual perception|xenobiotic catabolic process	Golgi apparatus|cytosol	NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CATTTCAATAATTATATCAAT	0.284000														59			27		0	0	0.001786	0	0
FREM1	158326	broad.mit.edu	37	9	14748452	14748452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:14748452C>T	uc003zlm.3	-	31	6559	c.5743G>A	c.(5743-5745)Gat>Aat	p.D1915N	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.D451N	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1915					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGTAGAATCAAAGCCCCGC	0.468000														0			20		0	0	0.007413	0	0
OR51M1	390059	broad.mit.edu	37	11	5410987	5410987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5410987C>T	uc010qzc.2	+	0	381	c.359C>T	c.(358-360)tCc>tTc	p.S120F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	120						integral to membrane	olfactory receptor activity	p.S120S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTCTTTTTCCTTCATGGAG	0.502000														116			97		0	0	0.003610	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517294	140517294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140517294G>A	uc003liq.3	+	0	2495	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	760					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACTCAGGGGCCGGCGAGTT	0.587000														63			29		0	0	0.002096	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965926	35965926	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:35965926C>T	uc003jjv.2	-	3	598	c.405G>A	c.(403-405)aaG>aaA	p.K135K	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.K135K|UGT3A1_uc011cor.2_Silent_p.K101K|UGT3A1_uc003jjy.2_Silent_p.K81K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	135						integral to membrane	glucuronosyltransferase activity	p.L134I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTCTCATTCTTTAAGGAAT	0.358000														32			19		0	0	0.007413	0	0
FLNC	2318	broad.mit.edu	37	7	128481303	128481303	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:128481303G>A	uc003vnz.4	+	11	2102	c.1893G>A	c.(1891-1893)tgG>tgA	p.W631*	FLNC_uc003voa.4_Nonsense_Mutation_p.W631*	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	631					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCGGTACTGGCCCACGGAGC	0.627000														43			44		0	0	0.003610	0	0
PEX5L	51555	broad.mit.edu	37	3	179537748	179537748	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:179537748C>T	uc003fki.1	-	8	969	c.839G>A	c.(838-840)tGg>tAg	p.W280*	PEX5L_uc011bqd.1_Nonsense_Mutation_p.W237*|PEX5L_uc011bqe.1_Nonsense_Mutation_p.W88*|PEX5L_uc011bqf.1_Nonsense_Mutation_p.W172*|PEX5L_uc003fkj.1_Nonsense_Mutation_p.W245*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.W278*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.W256*|PEX5L_uc011bqh.1_Nonsense_Mutation_p.W221*	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	280					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CATCTTATCCCAAAACTCTGT	0.433000														50			12		0	0	0.001855	0	0
HPS6	79803	broad.mit.edu	37	10	103827536	103827536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:103827536C>T	uc001kuj.3	+	0	2413	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	769						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CACTCCACCCCCGACTCCACC	0.597000									Hermansky-Pudlak syndrome					20			18		0	0	0.001523	0	0
A1CF	29974	broad.mit.edu	37	10	52587988	52587988	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:52587988T>A	uc001jjj.3	-	6	860	c.672A>T	c.(670-672)gaA>gaT	p.E224D	A1CF_uc010qho.2_Missense_Mutation_p.E232D|A1CF_uc010qhn.2_Missense_Mutation_p.E232D|A1CF_uc009xov.3_Missense_Mutation_p.E224D|A1CF_uc001jji.3_Missense_Mutation_p.E224D|A1CF_uc001jjh.3_Missense_Mutation_p.E232D	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	224					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ACATTGTATCTTCATCAACTT	0.353000														50			34		0	0	0.002445	0	0
GPR158	57512	broad.mit.edu	37	10	25464474	25464474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:25464474G>A	uc001isj.3	+	0	185	c.125G>A	c.(124-126)gGg>gAg	p.G42E	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	42						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACCCCGAAGGGGAAGCCGCAC	0.692000														18			9		0	0	0.004482	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935035	73935035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:73935035C>T	uc003pgm.4	-	0	141	c.97G>A	c.(97-99)Gag>Aag	p.E33K	KHDC1_uc011dyl.1_Non-coding_Transcript	NM_001126063	NP_001119535	Q5JSQ8	KHDCL_HUMAN	Homo sapiens KH homology domain containing 1-like (KHDC1L), mRNA.	33										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						ATGAGCTCCTCCTGGTCCTCT	0.512000														11			5		0	0	0.000602	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1963203	1963203	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:1963203C>T	uc021qsx.1	-	22	2391	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.E584E|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	720						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGACCAGCTCCTCGTCACCTG	0.572000														12			4		0	0	0.000248	0	0
PLA1A	51365	broad.mit.edu	37	3	119343987	119343987	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119343987G>A	uc003ecu.3	+	8	1095	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	PLA1A_uc003ecv.3_Silent_p.V327V|PLA1A_uc011bjc.2_Silent_p.V170V|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	343					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	p.V343L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAGCCTCGTGGAGTTTCACT	0.488000														21			13		0	0	0.001855	0	0
ABCC6	368	broad.mit.edu	37	16	16267254	16267254	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:16267254T>A	uc002den.4	-	20	2711	c.2674A>T	c.(2674-2676)Aag>Tag	p.K892*	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	892					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGGACTGACTTGATGGACCTG	0.537000														28			30		0	0	0.002836	0	0
GRM6	2916	broad.mit.edu	37	5	178419001	178419001	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:178419001G>A	uc003mjr.3	-	1	767	c.588C>T	c.(586-588)ccC>ccT	p.P196P	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	196					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGTAGGAGTCGGGTGGCACCA	0.622000														13			6		0	0	0.001168	0	0
ADAM9	8754	broad.mit.edu	37	8	38899581	38899581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:38899581C>T	uc003xmr.3	+	11	1325	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	416	Disintegrin.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding	p.P415L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGTGCTCCCTCCTGTGGTAAT	0.413000														36			49		0	0	0.003610	0	0
ELP3	55140	broad.mit.edu	37	8	27995239	27995239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27995239C>T	uc003xgo.4	+	9	1079	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ELP3_uc003xgn.4_Missense_Mutation_p.R296C|ELP3_uc011las.2_Missense_Mutation_p.R192C|ELP3_uc011lat.2_Missense_Mutation_p.R192C|ELP3_uc011laq.2_Missense_Mutation_p.R239C|ELP3_uc011lar.2_Missense_Mutation_p.R219C	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	311					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCCTGCTTTTCGTCCCGATGG	0.453000														33			28		0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179436312	179436313	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179436312_179436313CC>TT	uc021vsy.1	-	274	67067_67068	c.66842_66843GG>AA	c.(66841-66843)cgg>cAA	p.R22281Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15976Q|TTN_uc021vta.1_Missense_Mutation_p.R15909Q|TTN_uc021vtb.1_Missense_Mutation_p.R15784Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23208							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I22280T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGTGTCCCGTTTCTCAAC	0.411000														11			10		0	0	0.004672	0	0
CEP97	79598	broad.mit.edu	37	3	101476030	101476030	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:101476030C>T	uc003dvk.1	+	7	1044	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	CEP97_uc010hpm.1_Silent_p.S305S|CEP97_uc011bhf.1_Silent_p.S339S|CEP97_uc003dvl.1_Silent_p.S35S|CEP97_uc003dvm.1_Silent_p.S177S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	339	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						GCCAGATATCCCAGGAAAGTG	0.388000														53			13		0	0	0.002450	0	0
SPAG17	200162	broad.mit.edu	37	1	118624213	118624213	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:118624213C>T	uc001ehk.2	-	13	1883	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	605						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTTCAGGCTCTCAAAAGTAA	0.438000														419			13		0	0	0.003163	0	0
NFATC1	4772	broad.mit.edu	37	18	77170930	77170930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:77170930G>A	uc010xfg.2	+	1	1108	c.655G>A	c.(655-657)Gag>Aag	p.E219K	NFATC1_uc002lnc.1_Missense_Mutation_p.E219K|NFATC1_uc010xff.1_Missense_Mutation_p.E219K|NFATC1_uc002lnd.3_Missense_Mutation_p.E219K|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.E219K|NFATC1_uc010xfi.1_Missense_Mutation_p.E206K|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.E206K|NFATC1_uc002lng.3_Missense_Mutation_p.E206K|NFATC1_uc010xfk.2_Missense_Mutation_p.E206K	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	219	3 X SP repeats.				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)		GGACCCCGAGGAGGGCTTTCC	0.701000														14			18		0	0	0.007413	0	0
EMR3	84658	broad.mit.edu	37	19	14744099	14744099	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:14744099C>T	uc002mzi.4	-	11	1648	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	EMR3_uc010dzp.3_Silent_p.L448L|EMR3_uc010xnv.2_Silent_p.L374L	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	500					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ATCCCTGGTCCAGGTGGAGCC	0.463000														8			5		0	0	0.000602	0	0
TMC7	79905	broad.mit.edu	37	16	19033066	19033066	+	Silent	SNP	G	A	A	rs111625310		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:19033066G>A	uc002dfp.2	+	3	706	c.576G>A	c.(574-576)acG>acA	p.T192T	TMC7_uc010vao.1_Silent_p.T192T|TMC7_uc002dfq.3_Silent_p.T192T|TMC7_uc010vap.2_Silent_p.T82T	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	192						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTTACTCACGAAATACAAGA	0.418000														25			28		0	0	0.005443	0	0
MYO5A	4644	broad.mit.edu	37	15	52664450	52664450	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:52664450G>A	uc002aby.2	-	20	2932	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	MYO5A_uc002abx.3_Silent_p.F896F|MYO5A_uc010uge.1_Silent_p.F765F	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	896	IQ 6.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCATCCGCCTGAAGCAGCACT	0.537000														34			19		0	0	0.001882	0	0
XDH	7498	broad.mit.edu	37	2	31573069	31573069	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:31573069G>A	uc002rnv.1	-	24	2731	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	884					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			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)	TGTCCATGTGGAATAAAGCTC	0.507000														34			20		0	0	0.003330	0	0
FETUB	26998	broad.mit.edu	37	3	186370277	186370277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:186370277G>A	uc010hyq.3	+	7	1267	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R	FETUB_uc011brz.2_Missense_Mutation_p.G188R|FETUB_uc003fqn.3_Missense_Mutation_p.G336R|FETUB_uc010hyr.3_Missense_Mutation_p.G299R|FETUB_uc010hys.3_Missense_Mutation_p.G188R|FETUB_uc003fqp.4_Missense_Mutation_p.G271R	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	336						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAATCCCCAGGGAGAAACCCT	0.517000														47			46		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100683924	100683924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100683924C>T	uc003uxp.1	+	2	9280	c.9227C>T	c.(9226-9228)cCt>cTt	p.P3076L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3076	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3075C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCAACAGTCCTGTGGTCACT	0.478000														159			146		0	0	0.003610	0	0
AGPS	8540	broad.mit.edu	37	2	178299132	178299132	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:178299132A>C	uc002ull.2	+	2	475	c.428A>C	c.(427-429)aAa>aCa	p.K143T	AGPS_uc010zfb.1_Missense_Mutation_p.K53T	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	143					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTGGAGCATAAAACTACCTCT	0.289000														13			19		0	0	0.002780	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581615	140581615	+	Silent	SNP	G	A	A	rs148762649		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140581615G>A	uc003liy.3	+	0	2268	c.2268G>A	c.(2266-2268)acG>acA	p.T756T		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	756					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGTCTGACGGGAGGTTCCG	0.527000														29			42		0	0	0.002222	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454777	84454777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:84454777G>A	uc001vlk.3	-	0	1752	c.866C>T	c.(865-867)cCt>cTt	p.P289L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	289						integral to membrane		p.P289H(2)|p.P289L(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTCTTGAAAGGAGTTGGCAG	0.537000														31			14		0	0	0.002450	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716344	18716344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18716344G>A	uc001rdt.3	+	26	3807	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1272K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1050K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1231	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCAACAACGAAACAAGCCT	0.418000														11			11		0	0	0.008291	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798031	7798031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:7798031C>T	uc001aoi.3	+	15	3878	c.3671C>T	c.(3670-3672)cCt>cTt	p.P1224L	CAMTA1_uc010nzv.1_Missense_Mutation_p.P311L|CAMTA1_uc001aok.4_Missense_Mutation_p.P267L|CAMTA1_uc001aoj.3_Missense_Mutation_p.P180L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGAGAAGACCTCGTTCTGAA	0.438000			T	WWTR1	epitheliod hemangioendothelioma									48			14		0	0	0.003163	0	0
OR10H4	126541	broad.mit.edu	37	19	16060239	16060239	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:16060239A>C	uc010xov.2	+	0	422	c.422A>C	c.(421-423)gAc>gCc	p.D141A		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						AGCCCCCGTGACTGTGCCCAT	0.537000														45			26		0	0	0.006320	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028295	45028295	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:45028295C>T	uc010ejn.1	-	3	213	c.197_splice	c.e3-1	p.E66_splice	CEACAM20_uc010ejo.1_Splice_Site_p.E66_splice|CEACAM20_uc010ejp.1_Splice_Site_p.E66_splice|CEACAM20_uc010ejq.1_Splice_Site_p.E66_splice	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	66	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGGCCAGCTCTGAAAGCAAG	0.507000														64			174		0	0	0.003610	0	0
SYNM	23336	broad.mit.edu	37	15	99670365	99670365	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:99670365G>A	uc002bup.3	+	4	1917	c.1797G>A	c.(1795-1797)gtG>gtA	p.V599V	SYNM_uc002buo.3_Silent_p.V599V|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	600	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGACGCCTGTGAAGGATGCTG	0.562000														22			21		0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9028394	9028394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9028394G>A	uc002mkp.3	-	10	36602	c.36398C>T	c.(36397-36399)cCa>cTa	p.P12133L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12135	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						ATCCTTCTCTGGCCTGGGTAA	0.527000														39			19		0	0	0.004656	0	0
MYO18B	84700	broad.mit.edu	37	22	26422687	26422687	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:26422687C>T	uc003abz.1	+	42	6997	c.6747C>T	c.(6745-6747)gcC>gcT	p.A2249A	MYO18B_uc003aca.1_Silent_p.A2130A|MYO18B_uc010guy.1_Silent_p.A2131A|MYO18B_uc010guz.1_Silent_p.A2129A|MYO18B_uc011aka.1_Silent_p.A1403A|MYO18B_uc011akb.1_Silent_p.A1762A|MYO18B_uc010gva.1_Silent_p.A232A|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2249						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.S2248L(1)		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						CTTCAGCGGCCCTCTCGGAGT	0.602000														9			12		0	0	0.002450	0	0
XPO6	23214	broad.mit.edu	37	16	28118941	28118941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:28118941G>A	uc002dpa.1	-	17	2900	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L	XPO6_uc002dpb.1_Missense_Mutation_p.S786L|XPO6_uc010vcp.1_Missense_Mutation_p.S800L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	800					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GGACTCCCCCGAGATATTCTC	0.488000														35			27		0	0	0.006320	0	0
SYNE1	23345	broad.mit.edu	37	6	152647157	152647157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:152647157G>A	uc021zhb.1	-	77	15597	c.15374C>T	c.(15373-15375)tCt>tTt	p.S5125F	SYNE1_uc003qot.4_Missense_Mutation_p.S5054F|SYNE1_uc003qou.4_Missense_Mutation_p.S5125F|SYNE1_uc010kiz.3_Missense_Mutation_p.S880F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5125					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.L5124*(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)		AGAAAACTCAGACAATTTCTT	0.368000										HNSCC(10;0.0054)				35			21		0	0	0.001523	0	0
HOXA3	3200	broad.mit.edu	37	7	27150227	27150227	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:27150227C>T	uc011jzl.2	-	1	233	c.33G>A	c.(31-33)gcG>gcA	p.A11A	HOXA3_uc003syk.3_Silent_p.A11A	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	11					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACCGTAGATCGCCGAGCTGT	0.602000														36			41		0	0	0.003610	0	0
CD4	920	broad.mit.edu	37	12	6909577	6909577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:6909577C>T	uc001qqv.2	+	2	412	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	CD4_uc009zfa.2_Intron|CD4_uc009zez.2_Intron|CD4_uc009zfb.2_Intron|CD4_uc010sfj.2_Intron|CD4_uc009zfc.2_Intron|CD4_uc010sfl.2_Intron|CD4_uc010sfk.2_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	52	Ig-like V-type.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CATACAATTCCACTGGAAAAA	0.498000														17			16		0	0	0.004007	0	0
OR52H1	390067	broad.mit.edu	37	11	5565796	5565796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5565796C>T	uc010qzh.2	-	0	958	c.958G>A	c.(958-960)Gga>Aga	p.G320R	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACATCATCCTGTACCCTTA	0.378000														31			28		0	0	0.005443	0	0
ADH1B	125	broad.mit.edu	37	4	100239230	100239230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:100239230C>T	uc003hus.4	-	2	316	c.232G>A	c.(232-234)Gga>Aga	p.G78R	ADH1B_uc003hut.4_Missense_Mutation_p.G38R|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.G38R	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	78					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACCCCTTCTCCAACACTCTCC	0.532000														88			71		0	0	0.003610	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118173	118173	+	RNA	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrGL000205.1:118173A>G	uc002kgk.4	+	0		c.1551A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGATCCGCCAAGCCATCATA	0.493000														16			4		0	0	0.000248	0	0
LRRK2	120892	broad.mit.edu	37	12	40687346	40687346	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:40687346G>A	uc001rmg.4	+	21	2811	c.2690_splice	c.e21-1	p.G897_splice	LRRK2_uc001rmh.1_Splice_Site_p.G519_splice|LRRK2_uc009zjw.3_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	897					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCAAAATAGGAAGTGAAGG	0.323000														7			8		0	0	0.003080	0	0
ZNF831	128611	broad.mit.edu	37	20	57766405	57766405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:57766405C>T	uc002yan.3	+	0	331	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	111	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCGGCGGCCCCTACGCTGAC	0.687000														6			4		0	0	0.000248	0	0
ABCA8	10351	broad.mit.edu	37	17	66878041	66878041	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:66878041C>T	uc002jhq.3	-	30	4249	c.3909G>A	c.(3907-3909)aaG>aaA	p.K1303K	ABCA8_uc002jhp.3_Silent_p.K1263K|ABCA8_uc010wqq.2_Silent_p.K1298K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1263	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCGTGGCTATCTTATTCTTCC	0.463000														72			19		0	0	0.006122	0	0
OR2C1	4993	broad.mit.edu	37	16	3406326	3406326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:3406326C>T	uc002cuw.1	+	0	438	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGTGCCGGCCCCTCCGCTAC	0.607000														11			16		0	0	0.007413	0	0
EDARADD	128178	broad.mit.edu	37	1	236645793	236645793	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:236645793C>T	uc001hxu.1	+	5	557	c.492C>T	c.(490-492)acC>acT	p.T164T	EDARADD_uc001hxv.1_Silent_p.T154T	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	164	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAGCCCCACCTTGGAGTTCT	0.572000														19			9		0	0	0.004482	0	0
LRCH4	4034	broad.mit.edu	37	7	100180065	100180065	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100180065A>C	uc003uvj.3	-	1	291	c.238T>G	c.(238-240)Ttt>Gtt	p.F80V	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	80					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCTCGGGAAACCGGTTCCGG	0.657000														13			8		0	0	0.004482	0	0
UBR4	23352	broad.mit.edu	37	1	19433105	19433105	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:19433105G>A	uc001bbi.3	-	82	12355	c.12351C>T	c.(12349-12351)tcC>tcT	p.S4117S	UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4117					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GATCCAAGGGGGAGGTCCTCT	0.567000														51			22		0	0	0.002780	0	0
ASAP3	55616	broad.mit.edu	37	1	23758271	23758271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:23758271G>A	uc001bha.2	-	22	2588	c.2464C>T	c.(2464-2466)Ctc>Ttc	p.L822F	ASAP3_uc001bgy.1_Missense_Mutation_p.L326F|ASAP3_uc010odz.1_Missense_Mutation_p.L712F|ASAP3_uc010oea.1_Missense_Mutation_p.L813F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	822					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGCTCTCGGAGGCCCTCTTCA	0.652000														31			14		0	0	0.003163	0	0
KLHL5	51088	broad.mit.edu	37	4	39104936	39104936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:39104936C>T	uc003gtr.2	+	6	1751	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	KLHL5_uc003gtp.3_Missense_Mutation_p.R444C|KLHL5_uc003gtq.3_Missense_Mutation_p.R303C|KLHL5_uc003gts.3_Missense_Mutation_p.R490C|KLHL5_uc003gtt.3_Missense_Mutation_p.R429C	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	490						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTATGATCTCCGTACAAATAT	0.358000														17			4		0	0	0.000248	0	0
ELMO1	9844	broad.mit.edu	37	7	37382279	37382279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:37382279C>T	uc022abv.1	-	1	726	c.16G>A	c.(16-18)Gac>Aac	p.D6N	ELMO1_uc003tfk.2_Missense_Mutation_p.D6N|ELMO1_uc010kxg.2_Missense_Mutation_p.D6N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	6					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTGACGATGTCCGCGGGTGGC	0.498000														98			32		0	0	0.002096	0	0
ANP32C	23520	broad.mit.edu	37	4	165118667	165118667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:165118667C>T	uc011cjk.2	-	0	197	c.197G>A	c.(196-198)aGa>aAa	p.R66K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	66										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TTCAAGCTTTCTCAACTTTAA	0.408000														68			60		0	0	0.003610	0	0
DSG4	147409	broad.mit.edu	37	18	28968349	28968349	+	Missense_Mutation	SNP	C	T	T	rs36040686	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:28968349C>T	uc002kwr.2	+	3	371	c.236C>T	c.(235-237)tCg>tTg	p.S79L	DSG4_uc002kwq.2_Missense_Mutation_p.S79L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	79	Cadherin 1.				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)			GACTGCGAATCGAACCAGAAG	0.418000														11			9		0	0	0.006214	0	0
ABHD12	26090	broad.mit.edu	37	20	25282881	25282881	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:25282881C>T	uc002wuq.3	-	11	1410	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	ABHD12_uc002wus.2_Silent_p.K377K	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.	377						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GCTCAGGGCTCTTGTAAATGT	0.532000														25			18		0	0	0.008871	0	0
PKP2	5318	broad.mit.edu	37	12	33031882	33031882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:33031882G>A	uc001rlj.4	-	1	423	c.308C>T	c.(307-309)cCt>cTt	p.P103L	PKP2_uc001rlk.4_Missense_Mutation_p.P103L|PKP2_uc010skj.2_Missense_Mutation_p.P103L	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	103					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTTAGGAACAGGGGAACGGCC	0.383000														51			18		0	0	0.001523	0	0
DNAH9	1770	broad.mit.edu	37	17	11737988	11737988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:11737988G>A	uc002gne.3	+	48	9348	c.9280G>A	c.(9280-9282)Gaa>Aaa	p.E3094K	DNAH9_uc010coo.3_Missense_Mutation_p.E2388K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3094	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGCCCAGGAAGTAGAGCT	0.507000														13			17		0	0	0.008871	0	0
FBXL16	146330	broad.mit.edu	37	16	747067	747067	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:747067C>T	uc021taa.1	-	1	667	c.339G>A	c.(337-339)gaG>gaA	p.E113E	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	113	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCACACACTTCTCGCAGGCCG	0.662000														11			16		0	0	0.004990	0	0
FAM71B	153745	broad.mit.edu	37	5	156589596	156589596	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:156589596G>A	uc003lwn.3	-	1	1780	c.1680C>T	c.(1678-1680)atC>atT	p.I560I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	560						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTAGCCACGATATCTACCT	0.483000														333			152		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179396953	179396953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179396953C>T	uc021vsy.1	-	306	96910	c.96685G>A	c.(96685-96687)Gaa>Aaa	p.E32229K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25924K|TTN_uc021vta.1_Missense_Mutation_p.E25857K|TTN_uc021vtb.1_Missense_Mutation_p.E25732K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33156	Protein kinase.						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)			CTAGACTTTTCCTCCTTTGAC	0.413000														13			20		0	0	0.001882	0	0
TUBB6	84617	broad.mit.edu	37	18	12325642	12325643	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:12325642_12325643CC>TT	uc002kqw.3	+	3	889_890	c.854_855CC>TT	c.(853-855)acc>aTT	p.T285I	TUBB6_uc002kqv.3_Missense_Mutation_p.T213I|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	285					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CGGGCCCTGACCGTGCCCGAGC	0.683000														6			25		0	0	0.004672	0	0
SYNE2	23224	broad.mit.edu	37	14	64408603	64408603	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:64408603C>T	uc001xgl.3	+	5	468	c.238_splice	c.e5-1	p.P80_splice	SYNE2_uc001xgk.3_Splice_Site_p.P80_splice|SYNE2_uc001xgm.3_Splice_Site_p.P80_splice|SYNE2_uc021ruh.1_Splice_Site_p.P80_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	80	Actin-binding.|CH 1.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATTTCACAGCCTCGGGATAA	0.299000														36			28		0	0	0.006320	0	0
CEP290	80184	broad.mit.edu	37	12	88487599	88487599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:88487599G>A	uc001tar.3	-	27	3601	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	CEP290_uc001taq.3_Missense_Mutation_p.S146L|CEP290_uc001tat.3_Missense_Mutation_p.S879L	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1086					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.R1086W(1)|p.R1086Q(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTGCTTTAACGAAGTCCGTAA	0.303000														14			17		0	0	0.004007	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326018	79326018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:79326018G>A	uc010mpk.3	-	7	1296	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	PRUNE2_uc022bih.1_Missense_Mutation_p.S213F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	391					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCTATGTCAGAACCATACAA	0.512000														15			8		0	0	0.006214	0	0
TRIM9	114088	broad.mit.edu	37	14	51492019	51492019	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:51492019A>C	uc001wyx.4	-	1	1647	c.882T>G	c.(880-882)ttT>ttG	p.F294L	TRIM9_uc001wyy.2_Missense_Mutation_p.F294L|TRIM9_uc001wyz.4_Missense_Mutation_p.F294L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	294					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTGTACCAGAAACTCCTTGG	0.552000														64			43		0	0	0.003610	0	0
ARRB1	408	broad.mit.edu	37	11	74979994	74979994	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:74979994G>A	uc001owe.2	-	13	1256	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A	ARRB1_uc001owf.2_Silent_p.A336A	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	344	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GCAGTTCCACGGCCACGTCGC	0.587000														25			20		0	0	0.002780	0	0
SOX13	9580	broad.mit.edu	37	1	204093876	204093876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:204093876C>T	uc001ham.3	+	12	2078	c.1483C>T	c.(1483-1485)Ccg>Tcg	p.P495S	SOX13_uc010pqp.2_Missense_Mutation_p.P494S|SOX13_uc010pqq.2_Missense_Mutation_p.P362S	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	495					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAAGTACAAGCCGCGGCCCAA	0.627000														3			5		0	0	0.001168	0	0
HOXA6	3203	broad.mit.edu	37	7	27187097	27187097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:27187097G>A	uc003syo.2	-	0	297	c.272C>T	c.(271-273)tCg>tTg	p.S91L	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Intron|HOXA6_uc003syq.1_Intron	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	91						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GCCACTGCCCGAGGGCGAGGC	0.622000														16			19		0	0	0.008871	0	0
NLN	57486	broad.mit.edu	37	5	65084139	65084139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:65084139C>T	uc003juf.3	+	7	1331	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	NLN_uc003jue.3_Missense_Mutation_p.P385S|NLN_uc010iww.3_Missense_Mutation_p.P80S	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	385					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GGAATACTTCCCAATTGAGGT	0.418000														56			26		0	0	0.003954	0	0
C8orf80	389643	broad.mit.edu	37	8	27931884	27931884	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27931884C>T	uc003xgm.4	-	2	186	c.43_splice	c.e2+1	p.V15_splice		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	15						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		AAAGATGTTACCTGGATGCGG	0.428000														31			10		0	0	0.000978	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813131	25813131	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:25813131G>A	uc003nfh.4	-	7	941	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.F275F|SLC17A1_uc010jqc.1_Intron	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	275					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TATGTGACCAGAAAAACGTAA	0.358000														19			31		0	0	0.002096	0	0
PTPN7	5778	broad.mit.edu	37	1	202123350	202123350	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:202123350G>A	uc001gxn.2	-	5	1666	c.570C>T	c.(568-570)ctC>ctT	p.L190L	PTPN7_uc001gxl.2_Silent_p.L229L|PTPN7_uc001gxm.2_Silent_p.L295L|PTPN7_uc010ppx.2_Silent_p.L264L|PTPN7_uc010ppw.2_Silent_p.L138L|PTPN7_uc010ppy.2_Intron|PTPN7_uc001gxo.1_Silent_p.L142L	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	190	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCATGACAATGAGGGACACTT	0.582000														22			15		0	0	0.004007	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:168105217G>A	uc002udx.3	+	8	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAATAAGAACGATTTTTCCCC	0.408000														68			28		0	0	0.002445	0	0
FAM120B	84498	broad.mit.edu	37	6	170628184	170628184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:170628184C>T	uc003qxp.3	+	1	1814	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	FAM120B_uc003qxo.1_Missense_Mutation_p.T569I|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	569					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.V568L(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAACAAGTAACCATGGTTTCA	0.388000														42			21		0	0	0.002780	0	0
SASH1	23328	broad.mit.edu	37	6	148792633	148792634	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:148792633_148792634TC>GT	uc003qme.1	+	5	983_984	c.508_509TC>GT	c.(508-510)tca>GTa	p.S170V		NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	170							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAGACAGACTTCAAAAGGTACT	0.386000														16			10		0	0	0.004672	0	0
DPP3	10072	broad.mit.edu	37	11	66276699	66276699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66276699G>A	uc001oig.1	+	17	2253	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	DPP3_uc001oif.1_Missense_Mutation_p.E731K|DPP3_uc010rpe.1_Missense_Mutation_p.E720K|BBS1_uc001oih.1_Silent_p.V98V|BBS1_uc001oii.1_Silent_p.V24V|BBS1_uc010rpf.1_5'Flank|BBS1_uc001oil.1_5'Flank|BBS1_uc010rpg.1_5'Flank|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	731					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGGCCCCAGTGAGGCCCCATC	0.587000														9			4		0	0	0.000248	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139917122	139917122	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:139917122C>T	uc003lfs.2	+	30	7330	c.7176C>T	c.(7174-7176)gtC>gtT	p.V2392V	ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.V2392V|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.V1148V|ANKHD1-EIF4EBP3_uc003lfw.3_Silent_p.V1047V|ANKHD1-EIF4EBP3_uc010jfl.3_Silent_p.V768V|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.V546V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2392						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTTTTGTCGCTCCCGTTG	0.522000														12			11		0	0	0.001855	0	0
PTPRK	5796	broad.mit.edu	37	6	128306883	128306883	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:128306883G>A	uc003qbk.3	-	21	3598	c.3231C>T	c.(3229-3231)ccC>ccT	p.P1077P	PTPRK_uc010kfc.3_Silent_p.P1084P|PTPRK_uc003qbj.3_Silent_p.P1078P|PTPRK_uc011ebu.2_Silent_p.P1100P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1077	Tyrosine-protein phosphatase 1.				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)		GTACAACGATGGGGCCAGCAC	0.478000														39			15		0	0	0.004007	0	0
TMCC3	57458	broad.mit.edu	37	12	94976051	94976051	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:94976051G>A	uc001tdj.2	-	1	460	c.342C>T	c.(340-342)gtC>gtT	p.V114V	TMCC3_uc001tdi.2_Silent_p.V83V	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	114						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCTTCTCAAAGACTTGCTTGA	0.468000														30			28		0	0	0.004656	0	0
USP34	9736	broad.mit.edu	37	2	61528560	61528560	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:61528560A>C	uc002sbe.3	-	27	3869	c.3847T>G	c.(3847-3849)Tca>Gca	p.S1283A		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1283					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGTCCAGATGAAATCATCCTG	0.343000														37			73		0	0	0.003610	0	0
CDH5	1003	broad.mit.edu	37	16	66424444	66424444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:66424444C>T	uc002eom.4	+	5	1076	c.920C>T	c.(919-921)aCc>aTc	p.T307I	CDH5_uc002eon.1_Missense_Mutation_p.T307I	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	307	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GACGCTTTCACCATTGAGACA	0.562000														31			9		0	0	0.008291	0	0
ZFPM1	161882	broad.mit.edu	37	16	88599105	88599105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:88599105G>A	uc002fkv.3	+	7	1063	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.	344					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGTGCACACGGACACGCTGAG	0.701000														4			5		0	0	0.001168	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032408	10032408	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:10032408C>T	uc010uym.2	-	4	725	c.415_splice	c.e4-1	p.D139_splice	GRIN2A_uc002czo.4_Splice_Site_p.D139_splice|GRIN2A_uc010uyn.2_Splice_Site|GRIN2A_uc002czr.4_Splice_Site_p.D139_splice	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	139					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACGTCGGATCCTGCCAGTGA	0.468000														25			6		0	0	0.001168	0	0
TUBB8	347688	broad.mit.edu	37	10	93719	93719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:93719C>T	uc001ifi.2	-	3	613	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	205					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E205K(2)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACAGAGCTTCGTTATCTATG	0.537000														45			30		0	0	0.007291	0	0
SLIT2	9353	broad.mit.edu	37	4	20619120	20619120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:20619120G>A	uc003gpr.1	+	35	4399	c.4195G>A	c.(4195-4197)Gag>Aag	p.E1399K	SLIT2_uc003gps.1_Missense_Mutation_p.E1391K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1399					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	p.E1399K(2)		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						TAAGTGCTTGGAGGGCCATGG	0.537000														11			15		0	0	0.004007	0	0
TRPC6	7225	broad.mit.edu	37	11	101343009	101343009	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:101343009C>T	uc001pgk.4	-	7	2489	c.2064G>A	c.(2062-2064)gtG>gtA	p.V688V	TRPC6_uc009ywy.3_Silent_p.V572V|TRPC6_uc009ywz.1_Silent_p.V633V	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	688					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)		CCACTGATTTCACTTCAGAAA	0.318000														42			36		0	0	0.003755	0	0
TAAR5	9038	broad.mit.edu	37	6	132909851	132909851	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:132909851G>A	uc003qdk.2	-	0	1027	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	325					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.V324L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TCTGCGGTGAGAAGACCTTCT	0.473000														23			30		0	0	0.003755	0	0
AXDND1	126859	broad.mit.edu	37	1	179347892	179347892	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:179347892G>A	uc001gmo.3	+	5	882	c.495_splice	c.e5+1	p.K165_splice	AXDND1_uc001gmn.2_Splice_Site|AXDND1_uc010pnl.2_Splice_Site|AXDND1_uc009wxg.3_Splice_Site|AXDND1_uc021pfj.1_Splice_Site_p.K123_splice	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	165										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGCCCCATAAGGTAAATAAAG	0.333000														35			19		0	0	0.008871	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407056	47407056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:47407056C>T	uc001cqp.4	-	0	101	c.50G>A	c.(49-51)gGa>gAa	p.G17E	CYP4A11_uc001cqq.2_Missense_Mutation_p.G17E|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	17					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.S16S(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTGGAGGATTCCAGAGACATC	0.592000														41			13		0	0	0.003163	0	0
LOC644669	644669	broad.mit.edu	37	18	15316654	15316654	+	RNA	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:15316654A>G	uc002ktd.1	-	4		c.380T>C								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		TTTGAAGAGGAATTCACTGTA	0.403000														0			4		0	0	0.000602	0	0
LPHN3	23284	broad.mit.edu	37	4	62897307	62897307	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:62897307C>T	uc010ihh.3	+	19	3539	c.3366C>T	c.(3364-3366)ttC>ttT	p.F1122F	LPHN3_uc003hcq.4_Silent_p.F1122F|LPHN3_uc003hct.3_Silent_p.F506F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1100					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TATTTATTTTCCATTGTGTCC	0.333000														39			35		0	0	0.002836	0	0
UNC13D	201294	broad.mit.edu	37	17	73832957	73832957	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73832957G>A	uc002jpp.3	-	12	1478	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	UNC13D_uc010wsk.1_Silent_p.F366F|UNC13D_uc002jpq.1_Silent_p.F16F|UNC13D_uc010dgq.1_Silent_p.F163F	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	366	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGCTGGGGAACTCCAGGC	0.627000									Familial Hemophagocytic Lymphohistiocytosis					76			14		0	0	0.003163	0	0
COL21A1	81578	broad.mit.edu	37	6	56044684	56044684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:56044684C>T	uc003pcs.3	-	2	564	c.332G>A	c.(331-333)gGa>gAa	p.G111E	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G111E|COL21A1_uc003pcu.1_Missense_Mutation_p.G111E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	111	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G111E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTGTTTCCTCCTAAGTAGAG	0.463000														27			11		0	0	0.001368	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011956	160011956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160011956G>A	uc001fuw.2	-	1	607	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	123						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGATTCAAGGGAGAAGAGG	0.577000														38			9		0	0	0.006214	0	0
UNC13C	440279	broad.mit.edu	37	15	54306001	54306001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:54306001G>A	uc021smr.1	+	0	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UNC13C_uc021sms.1_Missense_Mutation_p.E301K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	301					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)		GTCTCGGAGGGAAACTAGAGA	0.428000														55			44		0	0	0.002852	0	0
ANAPC5	51433	broad.mit.edu	37	12	121756141	121756141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:121756141G>A	uc001uag.3	-	14	1954	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	ANAPC5_uc010szu.2_Missense_Mutation_p.S277F|ANAPC5_uc001uae.3_Missense_Mutation_p.S175F|ANAPC5_uc010szv.2_Missense_Mutation_p.S213F|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.S499F	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	611					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|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|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTACTCCTTGGAGAGGGCCAG	0.537000														253			220		0	0	0.003610	0	0
EPHA2	1969	broad.mit.edu	37	1	16460021	16460021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:16460021C>T	uc001aya.2	-	9	1974	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	607	Mediates interaction with ARHGEF16 and ELMO2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGATGGATCTCGGTAGTGAAC	0.592000														10			10		0	0	0.002450	0	0
TLE2	7089	broad.mit.edu	37	19	3005778	3005778	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:3005778G>A	uc010dth.3	-	15	1955	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	TLE2_uc010xhb.2_Silent_p.F230F|TLE2_uc002lww.3_Silent_p.F563F|TLE2_uc010xhc.2_Silent_p.F441F|TLE2_uc010dti.3_Silent_p.F577F	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	563					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TGCAGCAGGAGAAGCAAACCT	0.667000														26			16		0	0	0.004990	0	0
PCDH1	5097	broad.mit.edu	37	5	141243292	141243292	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:141243292G>A	uc003llp.3	-	2	2721	c.2604C>T	c.(2602-2604)atC>atT	p.I868I	PCDH1_uc011dbf.2_Silent_p.I846I|PCDH1_uc003llq.3_Silent_p.I868I	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	868					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCGCCAGGGCGATGAGCAAGG	0.572000														115			40		0	0	0.003214	0	0
TRIM55	84675	broad.mit.edu	37	8	67062070	67062070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:67062070G>A	uc003xvv.3	+	4	1020	c.794G>A	c.(793-795)gGa>gAa	p.G265E	TRIM55_uc003xvu.3_Missense_Mutation_p.G265E|TRIM55_uc003xvw.3_Missense_Mutation_p.G265E|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	265						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GTTGAGTCAGGAATTCAGTTT	0.428000														30			28		0	0	0.002096	0	0
C2orf71	388939	broad.mit.edu	37	2	29295194	29295194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:29295194C>T	uc002rmt.2	-	0	1934	c.1934G>A	c.(1933-1935)aGa>aAa	p.R645K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	645					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGCGGCTGCTCTGGGCTGCAG	0.592000														33			18		0	0	0.007413	0	0
SEPP1	6414	broad.mit.edu	37	5	42801055	42801055	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:42801055G>A	uc011cps.2	-	5	1101	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Nonsense_Mutation_p.R305*|SEPP1_uc011cpu.2_Nonsense_Mutation_p.R305*|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	305					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATCAGATGTCGACAATGGCAG	0.423000														19			31		0	0	0.002445	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935284	151935284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:151935284C>T	uc022chl.1	-	0	883	c.883G>A	c.(883-885)Gga>Aga	p.G295R	MAGEA3_uc004fgp.3_Missense_Mutation_p.G295R	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	295	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGTCCTCCACTGATCTTT	0.557000														53			42		0	0	0.003610	0	0
LRIG2	9860	broad.mit.edu	37	1	113655232	113655232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:113655232C>T	uc001edf.1	+	13	2128	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	LRIG2_uc009wgn.1_Missense_Mutation_p.P541S	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	644	Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TACTGACTTTCCTGCGGCTCG	0.498000														21			27		0	0	0.007291	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95576272	95576272	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:95576272G>A	uc011lua.1	+	2	492	c.438G>A	c.(436-438)ggG>ggA	p.G146G	ANKRD19P_uc004ass.2_Non-coding_Transcript|ANKRD19P_uc004asr.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		ATAATAAGGGGACTTCACTGG	0.393000														18			18		0	0	0.004990	0	0
MACF1	23499	broad.mit.edu	37	1	39847728	39847728	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:39847728C>T	uc021olw.1	+	19	9072	c.9072C>T	c.(9070-9072)ctC>ctT	p.L3024L	MACF1_uc021ols.1_Silent_p.L2522L|MACF1_uc001cdc.2_Silent_p.L2501L|MACF1_uc021olt.1_Silent_p.L2522L|MACF1_uc001cda.1_Silent_p.L2409L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4589					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATCCCAGCTCCGGCCGTGGC	0.562000														29			6		0	0	0.001984	0	0
PGK2	5232	broad.mit.edu	37	6	49754853	49754853	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:49754853C>T	uc003ozu.3	-	0	201	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	16					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.G16W(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGACTCGCTTCCCTCTAACAT	0.408000														61			50		0	0	0.003610	0	0
AK7	122481	broad.mit.edu	37	14	96864488	96864488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:96864488C>T	uc001yfn.2	+	1	226	c.182C>T	c.(181-183)tCa>tTa	p.S61L	AK7_uc001yfm.1_Missense_Mutation_p.S61L	NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	61					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GAAAATAAGTCAGCTATGCTG	0.483000														39			33		0	0	0.002445	0	0
GJD2	57369	broad.mit.edu	37	15	35045085	35045085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:35045085G>A	uc001zis.1	-	1	560	c.560C>T	c.(559-561)tCc>tTc	p.S187F	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	187					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TCTGAGCTTGGATTTTGATGC	0.488000														54			41		0	0	0.008740	0	0
ANGPT4	51378	broad.mit.edu	37	20	896618	896618	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:896618C>T	uc002wei.3	-	0	343	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ANGPT4_uc010zpn.2_Silent_p.G74G	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	80					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGGGCAACTTCCCCAGGTGCA	0.622000														24			21		0	0	0.002299	0	0
GRM6	2916	broad.mit.edu	37	5	178418980	178418981	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:178418980_178418981GG>AA	uc003mjr.3	-	1	787_788	c.608_609CC>TT	c.(607-609)gcc>gTT	p.A203V	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	203					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGTCCACCATGGCCTGCGCCTG	0.614000														6			12		0	0	0.004672	0	0
DMBT1	1755	broad.mit.edu	37	10	124331842	124331842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:124331842C>T	uc001lgk.1	+	4	306	c.200C>T	c.(199-201)tCc>tTc	p.S67F	DMBT1_uc001lgl.1_Missense_Mutation_p.S67F|DMBT1_uc001lgm.1_Missense_Mutation_p.S67F|DMBT1_uc021qaf.1_Missense_Mutation_p.S67F|DMBT1_uc021qag.1_Missense_Mutation_p.S67F|DMBT1_uc021qah.1_Missense_Mutation_p.S67F|DMBT1_uc009xzz.1_Missense_Mutation_p.S67F|DMBT1_uc010qtx.1_Missense_Mutation_p.S67F|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	67					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTCCGATTTCCTTGGAGTCA	0.522000														67			36		0	0	0.004878	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491705	73491705	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73491705C>T	uc010wsa.2	+	20	3147	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F	KIAA0195_uc002jnz.4_Silent_p.F975F|KIAA0195_uc010wsb.2_Silent_p.F615F|KIAA0195_uc002job.4_5'UTR	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	975					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCCCTTTTCACCGACTGCA	0.642000														112			45		0	0	0.003214	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413033	19413033	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:19413033G>A	uc010tcj.1	-	0		c.33077C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCACATCCATGCACTAAAAAG	0.294000														31			5		0	0	0.000602	0	0
REXO1L1	254958	broad.mit.edu	37	8	86567384	86567384	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:86567384G>C	uc003ydl.1	-	0	522	c.435C>G	c.(433-435)taC>taG	p.Y145*		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	502						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						AGTCCAAGGCGTAGATTCCTG	0.592000														89			11		0	0	0.001855	0	0
FPR2	2358	broad.mit.edu	37	19	52272026	52272026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52272026C>T	uc002pxr.3	+	1	160	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	FPR2_uc002pxs.4_Missense_Mutation_p.L39F|FPR2_uc010epf.3_Missense_Mutation_p.L39F|FPR2_uc021uyp.1_Missense_Mutation_p.L39F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	39					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.L39F(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACCTTTGTCCTCGGGGTCCT	0.552000														15			26		0	0	0.006320	0	0
FLT4	2324	broad.mit.edu	37	5	180030269	180030269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:180030269C>T	uc003mlz.4	-	29	4094	c.4015G>A	c.(4015-4017)Gag>Aag	p.E1339K		NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	0					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCGACAGCTCCCCATACTCG	0.642000														8			18		0	0	0.006122	0	0
OR4S2	219431	broad.mit.edu	37	11	55418543	55418543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:55418543C>T	uc001nhs.1	+	0	164	c.164C>T	c.(163-165)tCa>tTa	p.S55L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTGTTTAAGTCACCCATGTAT	0.393000														1			40		0	0	0.002522	0	0
NBEA	26960	broad.mit.edu	37	13	35758160	35758160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:35758160C>T	uc021rid.1	+	29	5413	c.4879C>T	c.(4879-4881)Ctt>Ttt	p.L1627F	NBEA_uc021ric.1_Missense_Mutation_p.L1624F|NBEA_uc010abi.3_Intron	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1627						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCATGGATTCCTTGCCAAGTT	0.413000														29			12		0	0	0.002450	0	0
IVD	3712	broad.mit.edu	37	15	40703543	40703543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:40703543G>A	uc001zls.3	+	4	884	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	IVD_uc001zlq.2_Missense_Mutation_p.E154K	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	181					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GCTCAAAGCGGAAAAGAAAGG	0.522000														54			56		0	0	0.003610	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645690	51645690	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51645690A>C	uc002pvv.1	+	0	133	c.64A>C	c.(64-66)Aac>Cac	p.N22H	SIGLEC7_uc002pvw.1_Missense_Mutation_p.N22H|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.N22H	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	22					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACAGAAGAGTAACCGGAAGGA	0.612000														7			13		0	0	0.001368	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746080	77746080	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:77746080G>A	uc002snr.3	-	2	1330	c.915C>T	c.(913-915)tcC>tcT	p.S305S	LRRTM4_uc002snq.3_Silent_p.S305S|LRRTM4_uc002sns.2_Silent_p.S305S|LRRTM4_uc002snt.2_Silent_p.S306S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	305						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACAATGTGATGGATATTAATG	0.353000														15			8		0	0	0.003080	0	0
ZMYND8	23613	broad.mit.edu	37	20	45916029	45916029	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:45916029C>T	uc010zxy.1	-	8	852	c.770_splice	c.e8-1	p.G257_splice	ZMYND8_uc010ghr.1_Splice_Site_p.G205_splice|ZMYND8_uc002xst.1_Splice_Site_p.G205_splice|ZMYND8_uc002xsu.1_Splice_Site_p.G230_splice|ZMYND8_uc002xsv.1_Splice_Site_p.G205_splice|ZMYND8_uc002xsw.1_Splice_Site|ZMYND8_uc002xsx.1_Splice_Site|ZMYND8_uc002xsy.1_Splice_Site_p.G205_splice|ZMYND8_uc002xsz.1_Splice_Site_p.G167_splice|ZMYND8_uc002xta.1_Splice_Site_p.G230_splice|ZMYND8_uc002xtb.1_Splice_Site_p.G250_splice|ZMYND8_uc002xss.2_Splice_Site_p.G230_splice|ZMYND8_uc010zxz.1_Splice_Site_p.G225_splice|ZMYND8_uc002xtc.1_Splice_Site_p.G250_splice|ZMYND8_uc002xtd.1_Splice_Site_p.G225_splice|ZMYND8_uc002xte.1_Splice_Site_p.G230_splice|ZMYND8_uc010zya.1_Splice_Site_p.G230_splice|ZMYND8_uc002xtf.1_Splice_Site_p.G250_splice|ZMYND8_uc002xtg.3_Splice_Site_p.G224_splice|ZMYND8_uc010ghs.2_Splice_Site_p.G224_splice	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	230							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGTGATTTCCTAAGGGAATA	0.423000														20			8		0	0	0.004482	0	0
OR8H1	219469	broad.mit.edu	37	11	56058353	56058353	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:56058353G>A	uc010rje.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61F(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGTGAGTAAGGAAAAAATACA	0.403000														98			40		0	0	0.002522	0	0
CFTR	1080	broad.mit.edu	37	7	117174389	117174390	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:117174389_117174390CC>TT	uc003vjd.3	+	4	681_682	c.549_550CC>TT	c.(547-552)ctcctt>ctTTtt	p.L184F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	184	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGTTAGTCTCCTTTCCAACAA	0.307000									Cystic Fibrosis					26			17		0	0	0.004672	0	0
NAA11	84779	broad.mit.edu	37	4	80246932	80246932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:80246932G>A	uc003hlt.4	-	0	240	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	NAA11_uc021xpl.1_Missense_Mutation_p.H34Y	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	34	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GAAAGGCCATGATATAAATAG	0.478000														48			10		0	0	0.008291	0	0
NPTXR	23467	broad.mit.edu	37	22	39219171	39219171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:39219171C>T	uc003awk.3	-	3	1349	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	399	Pentaxin.					integral to membrane	metal ion binding	p.G399G(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGCTCCCCGTCCTGGTAG	0.627000														26			17		0	0	0.006122	0	0
TLL1	7092	broad.mit.edu	37	4	166929148	166929148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:166929148G>A	uc003irh.2	+	6	1512	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	TLL1_uc021xud.1_Missense_Mutation_p.E289K|TLL1_uc011cjn.2_Missense_Mutation_p.E289K|TLL1_uc011cjo.2_Missense_Mutation_p.E113K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	289	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		CTCACTTGGAGAAAGATATGA	0.398000														57			13		0	0	0.002450	0	0
RBP3	5949	broad.mit.edu	37	10	48382025	48382025	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:48382025C>T	uc001jez.3	-	3	3738	c.3624G>A	c.(3622-3624)ggG>ggA	p.G1208G		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1208	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)	TCACCCCCACCCCTTCCCAGG	0.642000														7			6		0	0	0.003080	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431354	110431354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:110431354G>A	uc003yne.3	+	21	2493	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	797					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGACCTTCTGGATCTCGTAAG	0.363000										HNSCC(38;0.096)				57			16		0	0	0.004990	0	0
BIRC3	330	broad.mit.edu	37	11	102201752	102201752	+	Silent	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:102201752A>G	uc001pgx.3	+	5	3899	c.1104A>G	c.(1102-1104)gaA>gaG	p.E368E		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	368					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E368K(1)|p.E368*(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AACCTGGAGAAGACCATTCAG	0.333000			T	MALT1	MALT									32			24		0	0	0.005443	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37478418	37478418	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:37478418G>A	uc021ppc.1	+	24	2376	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q	ANKRD30A_uc001iza.1_Silent_p.Q759Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	815						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGTTTCACAGAAGGATGTGT	0.279000														15			19		0	0	0.006320	0	0
NAGA	4668	broad.mit.edu	37	22	42456378	42456379	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:42456378_42456379GG>AA	uc003bbw.4	-	8	1685_1686	c.1140_1141CC>TT	c.(1138-1143)ctccga>ctTTga	p.R381*		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	381					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GTTTCATCTCGGAGGCCACTGA	0.569000														36			34		0	0	0.004672	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891535	18891535	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18891535G>A	uc001rdy.3	+	0	491	c.333G>A	c.(331-333)caG>caA	p.Q111Q	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	111					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTATCATTCAGAATGAGGCAG	0.393000														35			30		0	0	0.007291	0	0
SLURP1	57152	broad.mit.edu	37	8	143822646	143822646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:143822646G>A	uc003ywy.3	-	2	253	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_020427	NP_065160	P55000	SLUR1_HUMAN	Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA.	76					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGCCACACAGGAGCTGGAGCA	0.667000														8			4		0	0	0.000248	0	0
TBX3	6926	broad.mit.edu	37	12	115117417	115117417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:115117417G>A	uc001tvt.1	-	3	1721	c.757C>T	c.(757-759)Cac>Tac	p.H253Y	TBX3_uc001tvu.1_Missense_Mutation_p.H233Y	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	253					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTTACAATGTGGAACCGGGGC	0.443000														65			34		0	0	0.005524	0	0
ZNF253	56242	broad.mit.edu	37	19	20002636	20002636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:20002636C>T	uc002noj.3	+	3	672	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	ZNF253_uc002nok.3_Missense_Mutation_p.H118Y|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	194					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAAGAAAATTCATACTGGAGA	0.353000														20			12		0	0	0.002450	0	0
MYH1	4619	broad.mit.edu	37	17	10415480	10415480	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10415480G>A	uc002gmo.3	-	12	1271	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	393	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGAGTTCAGATTTTGGAGA	0.468000														115			32		0	0	0.002445	0	0
FECH	2235	broad.mit.edu	37	18	55247340	55247340	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:55247340G>A	uc002lgq.4	-	1	276	c.159C>T	c.(157-159)gcC>gcT	p.A53A	FECH_uc002lgp.4_Silent_p.A53A|FECH_uc002lgr.4_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	53					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	p.A53S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TTGCACCCTGGGCATGCTGGG	0.512000														16			21		0	0	0.008871	0	0
DDX46	9879	broad.mit.edu	37	5	134121252	134121252	+	Nonsense_Mutation	SNP	C	G	G	rs141820419		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:134121252C>G	uc003kzw.3	+	10	1608	c.1440C>G	c.(1438-1440)taC>taG	p.Y480*	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	480	Helicase ATP-binding.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGTGTTTACGGAGGAACAG	0.373000														24			41		0	0	0.002222	0	0
POM121L12	285877	broad.mit.edu	37	7	53103958	53103958	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:53103958C>T	uc003tpz.3	+	0	610	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	198								p.F198F(4)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTTGTGGTTCGAGGTCTCAG	0.667000														24			23		0	0	0.006320	0	0
CLCN1	1180	broad.mit.edu	37	7	143043244	143043244	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143043244C>T	uc003wcr.1	+	17	2271	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S	CLCN1_uc011ktc.1_Silent_p.S340S	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	728					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTCCTCCTTCCCTTGCTCTCC	0.582000														27			8		0	0	0.004482	0	0
PLK2	10769	broad.mit.edu	37	5	57753146	57753147	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:57753146_57753147CC>TT	uc003jrn.3	-	6	1049_1050	c.869_870GG>AA	c.(868-870)agg>aAA	p.R290K	PLK2_uc021xyx.1_Missense_Mutation_p.R276K	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	290	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCCTTATGCACCTATAAGTTTC	0.431000														16			9		0	0	0.004672	0	0
OTOF	9381	broad.mit.edu	37	2	26699765	26699765	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:26699765G>A	uc002rhk.3	-	21	2797	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	OTOF_uc002rhh.3_Silent_p.F143F|OTOF_uc002rhi.3_Silent_p.F200F|OTOF_uc002rhj.3_Silent_p.F143F	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	890					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCTTAAGGAAGAGCGTCT	0.642000														16			6		0	0	0.003080	0	0
MLL	4297	broad.mit.edu	37	11	118343788	118343788	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:118343788C>T	uc001pta.3	+	2	1937	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	MLL_uc001ptb.3_Silent_p.A638A|MLL_uc001psz.1_Silent_p.A671A|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.	638					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)		CAAAGTATGCCAAAGAAGGTC	0.428000			"""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"""									29			20		0	0	0.001523	0	0
RXFP2	122042	broad.mit.edu	37	13	32367143	32367143	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:32367143G>A	uc001utt.3	+	15	1775	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G	RXFP2_uc010aba.3_Silent_p.G544G	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	568						integral to membrane|plasma membrane		p.G568W(1)|p.Y567Y(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACTTTTATGGGAAAAATGGAG	0.343000														30			12		0	0	0.000978	0	0
OR6C1	390321	broad.mit.edu	37	12	55715295	55715296	+	Nonsense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55715295_55715296GA>AT	uc010spi.2	+	0	912_913	c.912_913GA>AT	c.(910-915)aggaag>agATag	p.K305*		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R304R(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACATGGCAAGGAAGACTGTATT	0.391000														35			13		0	0	0.004672	0	0
MYD88	4615	broad.mit.edu	37	3	38182680	38182680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:38182680C>T	uc003chx.3	+	4	1041	c.857C>T	c.(856-858)cCc>cTc	p.P286L	MYD88_uc011ayi.2_Missense_Mutation_p.P278L|MYD88_uc011ayj.2_3'UTR|MYD88_uc011ayk.2_3'UTR|MYD88_uc011ayl.2_Missense_Mutation_p.P233L	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	265	TIR.				3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity	p.V286_T294del(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGAGTTCCCCAGCATCCTG	0.567000			Mis		ABC-DLBCL									38			29		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179453449	179453449	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179453449C>T	uc021vsy.1	-	252	55524	c.55299G>A	c.(55297-55299)gaG>gaA	p.E18433E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E12128E|TTN_uc021vta.1_Silent_p.E12061E|TTN_uc021vtb.1_Silent_p.E11936E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19360							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)			TTTCCTTTTTCTCCAAAAAGT	0.423000														34			16		0	0	0.004990	0	0
DISC1	27185	broad.mit.edu	37	1	231906692	231906692	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:231906692C>T	uc010pxh.2	+	6	1659	c.1606C>T	c.(1606-1608)Ctg>Ttg	p.L536L	DISC1_uc010pwj.1_Silent_p.L493L|DISC1_uc010pwk.1_Silent_p.L493L|DISC1_uc010pwg.1_Silent_p.L493L|DISC1_uc010pwh.1_Silent_p.L459L|DISC1_uc010pwi.1_Silent_p.L459L|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwq.2_Silent_p.L504L|DISC1_uc010pwr.1_Silent_p.L504L|DISC1_uc010pws.1_Silent_p.L504L|DISC1_uc010pwt.1_Silent_p.L504L|DISC1_uc010pwu.1_Silent_p.L154L|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Silent_p.L504L|DISC1_uc001huy.3_Silent_p.L504L|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Silent_p.L504L|DISC1_uc010pxc.1_Silent_p.L504L|DISC1_uc010pxe.2_Silent_p.L504L|DISC1_uc010pxf.2_Silent_p.L504L|DISC1_uc010pxg.2_Silent_p.L504L|DISC1_uc010pxd.2_Silent_p.L149L|DISC1_uc009xfr.3_Silent_p.L459L|DISC1_uc010pxn.1_Silent_p.L149L|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Silent_p.L149L|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Intron|DISC1_uc001huz.3_Silent_p.L504L|DISC1_uc001hva.3_Silent_p.L504L	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	504	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGCTGCGACCTGACCCCACT	0.592000														20			16		0	0	0.003163	0	0
ANO4	121601	broad.mit.edu	37	12	101381342	101381342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:101381342C>T	uc010svm.1	+	7	1200	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R175W|ANO4_uc001thx.2_Missense_Mutation_p.R210W	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	210						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAGCAGGTTTCGGAGATGGTT	0.507000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		142			49		0	0	0.003610	0	0
OR2W3	343171	broad.mit.edu	37	1	248059200	248059200	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:248059200C>T	uc010pzb.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F	OR2W3_uc001idp.1_Silent_p.F104F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L103L(1)		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)			TCTTCCTGTTCCTGGGTCTGG	0.552000														52			11		0	0	0.008291	0	0
XRN1	54464	broad.mit.edu	37	3	142102197	142102198	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:142102197_142102198GG>AA	uc003eus.3	-	21	2627_2628	c.2560_2561CC>TT	c.(2560-2562)cct>TTt	p.P854F	XRN1_uc010huu.3_Missense_Mutation_p.P320F|XRN1_uc003eut.3_Missense_Mutation_p.P854F|XRN1_uc003euu.3_Missense_Mutation_p.P854F|XRN1_uc003euv.1_Missense_Mutation_p.P715F	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	854					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						ACTTCTCAGAGGAAACAAATCA	0.337000														26			15		0	0	0.004672	0	0
ARL3	403	broad.mit.edu	37	10	104459154	104459154	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:104459154A>T	uc001kwa.3	-	2	398	c.240T>A	c.(238-240)aaT>aaA	p.N80K		NM_004311	NP_004302	P36405	ARL3_HUMAN	Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA.	80					cell cycle|cytokinesis|small GTPase mediated signal transduction	Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		TTTCAAAATAATTCTTCCAGT	0.353000														16			9		0	0	0.006214	0	0
CCDC108	255101	broad.mit.edu	37	2	219896369	219896369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219896369C>T	uc002vjl.1	-	6	741	c.657G>A	c.(655-657)atG>atA	p.M219I	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.M208I|CCDC108_uc010zkq.1_Missense_Mutation_p.M154I	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	219						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGCTGGTCCATGTACTCCT	0.637000														23			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179623863	179623863	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179623863A>C	uc021vsy.1	-	43	10376	c.10151T>G	c.(10150-10152)aTc>aGc	p.I3384S	TTN_uc021vsz.1_Missense_Mutation_p.I3338S|TTN_uc021vta.1_Missense_Mutation_p.I3338S|TTN_uc021vtb.1_Missense_Mutation_p.I3338S|TTN_uc002umz.1_Missense_Mutation_p.I45S|TTN_uc002unb.2_Missense_Mutation_p.I3384S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4327	Ig-like 20.						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)			AGATGGCTTGATTTTCTTGTC	0.368000														20			31		0	0	0.002445	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28279788	28279788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:28279788G>A	uc001bpg.3	+	3	627	c.436G>A	c.(436-438)Gga>Aga	p.G146R	SMPDL3B_uc001bpf.3_Missense_Mutation_p.G146R|SMPDL3B_uc010ofq.2_5'UTR|SMPDL3B_uc010ofr.2_Intron	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	146					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GTTCCCAGCTGGAAGTAACAA	0.398000														27			9		0	0	0.000978	0	0
LIFR	3977	broad.mit.edu	37	5	38506053	38506053	+	Silent	SNP	C	T	T	rs139809889		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:38506053C>T	uc010ive.1	-	8	1577	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	LIFR_uc003jli.2_Silent_p.P415P	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	415	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.P415Q(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCGACCCAGCGGATTGTGAG	0.294000			T	PLAG1	salivary adenoma									132			37		0	0	0.002222	0	0
PPIAL4A	164022	broad.mit.edu	37	1	147955418	147955418	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:147955418G>A	uc001eqp.3	-	1	1	c.-74_splice	c.e1-1		NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron	NM_178230	NP_839944	Q9Y536	PAL4A_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4A (PPIAL4A), mRNA.						protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			endometrium(1)	1						tgtctttatagtttggccttt	0.398000														107			13		0	0	0.001368	0	0
MAP7	9053	broad.mit.edu	37	6	136667165	136667165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:136667165C>T	uc011edg.2	-	16	2407	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	MAP7_uc011edf.2_Missense_Mutation_p.E675K|MAP7_uc010kgu.3_Missense_Mutation_p.E712K|MAP7_uc011edh.2_Missense_Mutation_p.E675K|MAP7_uc010kgv.3_Missense_Mutation_p.E712K|MAP7_uc010kgs.3_Missense_Mutation_p.E544K|MAP7_uc011edi.2_Missense_Mutation_p.E544K|MAP7_uc010kgq.2_Missense_Mutation_p.E596K|MAP7_uc003qgz.3_Missense_Mutation_p.E690K|MAP7_uc003qha.2_Missense_Mutation_p.E653K	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	690					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCAAAATTTTCATTCTGAACA	0.313000														31			8		0	0	0.004482	0	0
RAD17	5884	broad.mit.edu	37	5	68682007	68682007	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:68682007G>A	uc003jwo.3	+	7	794	c.732_splice	c.e7-1	p.R244_splice	RAD17_uc003jwg.3_Splice_Site_p.R233_splice|RAD17_uc003jwi.3_Splice_Site_p.R233_splice|RAD17_uc003jwh.3_Splice_Site_p.R233_splice|RAD17_uc003jwj.3_Splice_Site_p.R233_splice|RAD17_uc003jwk.3_Splice_Site_p.R233_splice|RAD17_uc003jwl.3_Splice_Site_p.R233_splice|RAD17_uc003jwm.3_Splice_Site_p.R68_splice|RAD17_uc003jwn.3_Splice_Site_p.R147_splice	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	244					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GTTATTTTAGGAAGTATGTGA	0.328000								Other conserved DNA damage response genes						47			21		0	0	0.001523	0	0
EXT2	2132	broad.mit.edu	37	11	44255677	44255677	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:44255677C>T	uc001mya.3	+	11	1974	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	EXT2_uc010rfo.2_Silent_p.L635L|EXT2_uc009ykt.3_Silent_p.L617L|EXT2_uc001mxz.3_Silent_p.L607L	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	607					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTTTAATTACCTGTATACCTA	0.423000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					0			21		0	0	0.003954	0	0
FOXD4	2298	broad.mit.edu	37	9	117901	117901	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:117901G>A	uc003zfz.3	-	0	517	c.219C>T	c.(217-219)ggC>ggT	p.G73G		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	73					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCGGGCCGCCGCCGCCCTCGA	0.721000														2			25		0	0	0.002836	0	0
ADD1	118	broad.mit.edu	37	4	2877717	2877717	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:2877717C>T	uc003gfq.3	+	1	263	c.75C>T	c.(73-75)ttC>ttT	p.F25F	ADD1_uc010ico.1_Silent_p.F25F|ADD1_uc003gfo.3_Silent_p.F25F|ADD1_uc003gfp.3_Silent_p.F25F|ADD1_uc003gfr.3_Silent_p.F25F|ADD1_uc003gfs.3_Silent_p.F25F|ADD1_uc003gft.3_Silent_p.F25F	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	25					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGAGGTACTTCGACCGAGTAG	0.522000														62			34		0	0	0.003271	0	0
PTPRS	5802	broad.mit.edu	37	19	5229345	5229345	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:5229345C>T	uc002mbv.3	-	15	2592	c.2358G>A	c.(2356-2358)acG>acA	p.T786T	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Intron|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	786	Fibronectin type-III 5.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCGTGTCATCCGTCTCCCACT	0.662000														8			4		0	0	0.000248	0	0
SMCP	4184	broad.mit.edu	37	1	152857234	152857234	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152857234C>T	uc021ozk.1	+	0	336	c.336C>T	c.(334-336)tcC>tcT	p.S112S	SMCP_uc001fat.3_Silent_p.S112S	NM_030663	NP_109588	P49901	MCSP_HUMAN	Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.	112					penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	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)			AAAATGAGTCCAGGCCAAGCA	0.522000														32			24		0	0	0.003330	0	0
HYDIN	54768	broad.mit.edu	37	16	70954575	70954575	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:70954575G>A	uc002ezr.3	-	45	7852	c.7701C>T	c.(7699-7701)ttC>ttT	p.F2567F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2568										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGATGTCTAGGAAGGGTACGC	0.607000														8			12		0	0	0.001368	0	0
DNAH17	8632	broad.mit.edu	37	17	76554246	76554246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:76554246C>T	uc010dhp.2	-	13	2247	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	DNAH17_uc002jvv.2_Missense_Mutation_p.E410K	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGAAAGTTTCGTTCTCTGAG	0.453000														23			9		0	0	0.004482	0	0
YARS	8565	broad.mit.edu	37	1	33246732	33246732	+	Missense_Mutation	SNP	C	T	T	rs34213904		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:33246732C>T	uc001bvy.1	-	9	1845	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	YARS_uc001bvw.1_Missense_Mutation_p.G13S|YARS_uc001bvx.1_Missense_Mutation_p.G4S	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	353					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTGGCAGGGCCTTTGGCCATT	0.507000														34			13		0	0	0.001855	0	0
IFRD2	7866	broad.mit.edu	37	3	50329948	50329948	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:50329948G>A	uc003czb.3	-	2	310	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGAGGCCTGAGCGCGCAGG	0.657000														19			13		0	0	0.003163	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055097	17055097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:17055097G>A	uc003wxe.3	+	4	777	c.380G>A	c.(379-381)cGa>cAa	p.R127Q		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	127						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CTAGCCATCCGATACTGTGAC	0.353000														109			29		0	0	0.004878	0	0
OR51A4	401666	broad.mit.edu	37	11	4968319	4968319	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4968319G>A	uc010qys.2	-	0	12	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I4I(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		ATGATGTGTTGATAATGGACA	0.383000														9			21		0	0	0.005524	0	0
APC	324	broad.mit.edu	37	5	112174398	112174399	+	Missense_Mutation	DNP	TG	GT	GT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112174398_112174399TG>GT	uc003kpz.4	+	16	3300_3301	c.3107_3108TG>GT	c.(3106-3108)ttg>tGT	p.L1036C	APC_uc011cvt.2_Missense_Mutation_p.L1018C|APC_uc003kpy.4_Missense_Mutation_p.L1036C|APC_uc010jbz.3_Missense_Mutation_p.L753C|APC_uc010jca.3_Missense_Mutation_p.L336C	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1036	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Q1035*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATGAGCAGTTGAACTCTGGAA	0.351000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				31			18		0	0	0.004672	0	0
SIPA1	6494	broad.mit.edu	37	11	65417270	65417270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:65417270C>T	uc001ofb.2	+	11	2847	c.2680C>T	c.(2680-2682)Ccg>Tcg	p.P894S	SIPA1_uc010rom.1_Missense_Mutation_p.P792S|SIPA1_uc001ofd.2_Missense_Mutation_p.P894S	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	894					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CAAGGGCAACCCGGCGCCGGA	0.607000														22			9		0	0	0.008291	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235904	23235904	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:23235904G>A	uc021wmq.1	+	1	508	c.234G>A	c.(232-234)caG>caA	p.Q78Q	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Silent_p.Q77Q|IGLL5_uc010gtu.2_Intron|IGLL5_uc021wmr.1_5'Flank	NM_001178126	NP_001171597	B9A064	IGLL5_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA.	77						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCAGCCCCCAGAGAGCAGACC	0.652000														5			6		0	0	0.003080	0	0
PAPPA	5069	broad.mit.edu	37	9	119115177	119115177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:119115177C>T	uc004bjn.3	+	15	4538	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F	PAPPA_uc011lxq.2_Missense_Mutation_p.S761F	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1386	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCCTGGATCCTCTCGGAAG	0.517000														9			8		0	0	0.004482	0	0
KIAA1383	54627	broad.mit.edu	37	1	232942542	232942542	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:232942542G>A	uc001hvh.2	+	0	1905	c.1773G>A	c.(1771-1773)aaG>aaA	p.K591K		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	449										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				AAGCCAAGAAGGATAAGCGTT	0.413000														23			7		0	0	0.001984	0	0
FER1L6	654463	broad.mit.edu	37	8	125094552	125094552	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:125094552T>C	uc003yqw.3	+	32	4450	c.4244T>C	c.(4243-4245)tTc>tCc	p.F1415S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1415	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)			CAAGCCACATTCCCAAAAGAG	0.483000														62			36		0	0	0.006999	0	0
ADRB1	153	broad.mit.edu	37	10	115804274	115804274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:115804274C>T	uc001lba.3	+	0	469	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	128					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GAGTACGGCTCCTTCTTCTGC	0.652000														34			25		0	0	0.008361	0	0
ACPP	55	broad.mit.edu	37	3	132051046	132051046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:132051046G>A	uc010htp.2	+	3	404	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	ACPP_uc003eon.3_Missense_Mutation_p.R105Q|ACPP_uc003eop.4_Missense_Mutation_p.R105Q	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	105						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.R105Q(4)|p.R105*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GTTTATATTCGAAGCACAGAC	0.463000														74			63		0	0	0.003610	0	0
HIRA	7290	broad.mit.edu	37	22	19371175	19371175	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:19371175G>A	uc002zpf.1	-	12	1603	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	HIRA_uc011agx.1_Silent_p.I327I|HIRA_uc010grn.1_Silent_p.I461I|HIRA_uc010gro.2_Silent_p.I417I|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	461	Interaction with ASF1A.|Interaction with CCNA1.|Required for repression of histone gene transcription.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.I461I(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGAGAGGCGTGATTCTTCTCC	0.458000														42			35		0	0	0.006999	0	0
FKBP6	8468	broad.mit.edu	37	7	72743404	72743404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:72743404G>A	uc003tya.2	+	2	349	c.217G>A	c.(217-219)Gat>Aat	p.D73N	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.D68N|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	73	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CAGACCCTTCGATTCTAATTA	0.433000														66			65		0	0	0.003610	0	0
ORAI3	93129	broad.mit.edu	37	16	30964558	30964558	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:30964558T>C	uc002eac.3	+	1	487	c.281T>C	c.(280-282)cTg>cCg	p.L94P		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 3 (ORAI3), mRNA.	94						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCACCAGGCCTGCTGGTGGCC	0.597000											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			11		0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	141081578	141081578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141081578G>A	uc002tvj.1	-	80	13370	c.12398C>T	c.(12397-12399)cCt>cTt	p.P4133L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4133					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)		ACCATTTTTAGGTCCTGCTCC	0.299000										TSP Lung(27;0.18)				49			34		0	0	0.003755	0	0
ABCB4	5244	broad.mit.edu	37	7	87082419	87082419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:87082419C>T	uc003uiv.1	-	5	453	c.377G>A	c.(376-378)gGa>gAa	p.G126E	ABCB4_uc003uiw.1_Missense_Mutation_p.G126E|ABCB4_uc003uix.1_Missense_Mutation_p.G126E|ABCB4_uc003uiy.3_Missense_Mutation_p.G126E	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	126	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AACAAGAACTCCAGCACCCAA	0.353000														40			26		0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179570047	179570047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179570047C>T	uc021vsy.1	-	99	25951	c.25726G>A	c.(25726-25728)Gaa>Aaa	p.E8576K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5237K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9503	Ig-like 68.						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)			ATATCAATTTCCTCTTCTTCT	0.333000														6			9		0	0	0.004482	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466663	96466663	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:96466663G>A	uc001kjv.4	+	4	1091	c.765G>A	c.(763-765)ctG>ctA	p.L255L	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	255					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)	AAGAATCCCTGGACATGAACA	0.338000														43			7		0	0	0.006214	0	0
ABCC3	8714	broad.mit.edu	37	17	48745329	48745329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:48745329C>T	uc002isl.3	+	12	1821	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	581	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTTAAGACTTCCCCTCAACAT	0.537000														31			8		0	0	0.000978	0	0
CDH1	999	broad.mit.edu	37	16	68835619	68835619	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:68835619C>T	uc002ewg.1	+	2	334	c.210C>T	c.(208-210)tcC>tcT	p.S70S	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.S70S	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	70				SL -> P (in Ref. 3; AAA61259).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.S70fs*24(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCTATTTTTCCCTCGACACCC	0.463000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					69			23		0	0	0.003330	0	0
CAMK1G	57172	broad.mit.edu	37	1	209773327	209773327	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:209773327G>A	uc001hhd.3	+	3	195	c.93_splice	c.e3-1	p.S31_splice	CAMK1G_uc001hhf.4_Splice_Site_p.S31_splice|CAMK1G_uc001hhe.3_Splice_Site_p.S31_splice	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	31	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTTCTCCTCAGAGGAGCTTTC	0.468000														23			23		0	0	0.003330	0	0
VPS4B	9525	broad.mit.edu	37	18	61064419	61064420	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:61064419_61064420GG>AA	uc002lix.3	-	8	1199_1200	c.939_940CC>TT	c.(937-942)caccta>caTTta	p.313_314HL>HL	VPS4B_uc010dpx.3_Silent_p.313_314HL>HL|VPS4B_uc010dpy.3_Silent_p.195_196HL>HL|VPS4B_uc010dpz.1_Silent_p.195_196HL>HL	NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	313					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GTGGTCCCTAGGTGCAGTTTAA	0.411000														28			16		0	0	0.004672	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417449	150417449	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:150417449C>T	uc003whq.3	+	2	497	c.357C>T	c.(355-357)acC>acT	p.T119T	GIMAP1-GIMAP5_uc022apw.1_Silent_p.T119T	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TCCTGGTGACCCAGTTGGGTC	0.612000														18			14		0	0	0.004990	0	0
TRRAP	8295	broad.mit.edu	37	7	98563401	98563401	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:98563401C>T	uc003upp.3	+	47	7247	c.7038C>T	c.(7036-7038)ttC>ttT	p.F2346F	TRRAP_uc011kis.2_Silent_p.F2328F|TRRAP_uc003upr.3_Silent_p.F2045F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2346	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAGAACTTCATCCAGGCCA	0.527000														26			18		0	0	0.007413	0	0
MCTP2	55784	broad.mit.edu	37	15	94928667	94928667	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:94928667C>T	uc002btj.3	+	12	1766	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	MCTP2_uc002bti.2_Silent_p.I567I|MCTP2_uc010boj.3_Silent_p.I296I|MCTP2_uc010bok.3_Silent_p.I567I|MCTP2_uc002btk.4_Silent_p.I155I|MCTP2_uc002btl.3_Silent_p.I155I	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	567	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.I567T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTAAAGATATCCATGATGTTT	0.368000														55			56		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152281798	152281798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152281798G>A	uc001ezu.1	-	2	5600	c.5564C>T	c.(5563-5565)tCc>tTc	p.S1855F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1855	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)			CTGCCCACGGGAGACATCAGA	0.547000									Ichthyosis					158			117		0	0	0.003610	0	0
C1orf173	127254	broad.mit.edu	37	1	75072513	75072513	+	Missense_Mutation	SNP	C	T	T	rs144402838		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:75072513C>T	uc001dgg.3	-	9	1480	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G215R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	421	Glu-rich.							p.K420K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGTTCCTCTCCTTTCTCAGTG	0.408000														29			63		0	0	0.003610	0	0
OR51V1	283111	broad.mit.edu	37	11	5221055	5221055	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5221055G>A	uc010qyz.2	-	0	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAAAGGTGGGAAAAGGATGT	0.433000														17			23		0	0	0.002780	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033958	52033958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52033958C>T	uc002pwy.3	-	2	891	c.683G>A	c.(682-684)aGa>aAa	p.R228K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.R228K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.R192K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.R228K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.R228K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.R217K|SIGLEC6_uc010epa.2_Missense_Mutation_p.R217K|SIGLEC6_uc010epb.2_Missense_Mutation_p.R181K	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	228	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTGGATGGTTCTCTCCATGGT	0.632000														15			26		0	0	0.006320	0	0
CAV1	857	broad.mit.edu	37	7	116199329	116199329	+	Silent	SNP	G	A	A	rs142699467		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:116199329G>A	uc003vif.2	+	2	803	c.525G>A	c.(523-525)caG>caA	p.Q175Q	CAV1_uc010lke.2_Silent_p.Q144Q|CAV1_uc010lkd.2_Silent_p.Q144Q|CAV1_uc003vig.2_Silent_p.Q144Q|CAV1_uc003vih.3_Silent_p.Q144Q|CAV1_uc010lkf.2_Silent_p.Q144Q	NM_001753	NP_001166368	Q03135	CAV1_HUMAN	Homo sapiens caveolin 1, caveolae protein, 22kDa (CAV1), transcript variant 1, mRNA.	175					T cell costimulation|blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|triglyceride metabolic process|vasculogenesis|vesicle organization	Golgi membrane|apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			TCAACTTGCAGAAAGAAATAT	0.393000														19			15		0	0	0.004990	0	0
TEX34	124783	broad.mit.edu	37	17	43333173	43333173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43333173G>A	uc002iis.1	-	3	472	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.P105S	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	126																	AGACTCCACGGTCTGAAGGTC	0.557000														50			45		0	0	0.002852	0	0
EYA4	2070	broad.mit.edu	37	6	133789847	133789847	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:133789847C>T	uc011ecs.2	+	10	1264	c.948C>T	c.(946-948)ctC>ctT	p.L316L	EYA4_uc011ecq.2_Silent_p.L262L|EYA4_uc011ecr.2_Silent_p.L262L|EYA4_uc003qec.4_Silent_p.L316L|EYA4_uc003qed.4_Silent_p.L316L|EYA4_uc003qee.4_Silent_p.L293L|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	316					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGGAATCTCTCCCAGGACTGA	0.408000														48			46		0	0	0.003610	0	0
TEKT1	83659	broad.mit.edu	37	17	6703386	6703386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:6703386C>T	uc002gdt.3	-	7	1327	c.1217G>A	c.(1216-1218)gGg>gAg	p.G406E	TEKT1_uc010vth.2_Missense_Mutation_p.G260E	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	406					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				AGCCCAGACCCCATGGTCTTC	0.488000														67			52		0	0	0.003610	0	0
NLRC3	197358	broad.mit.edu	37	16	3613758	3613758	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:3613758G>T	uc010btn.3	-	4	1591	c.1180C>A	c.(1180-1182)Cgc>Agc	p.R394S		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	394	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCATCTTGCGGCCACCATGG	0.582000														7			8		0.000157383	0.000215793	0.003080	1	0
LRRK2	120892	broad.mit.edu	37	12	40745535	40745535	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:40745535G>A	uc001rmg.4	+	44	6697	c.6576_splice	c.e44+1	p.E2192_splice	LRRK2_uc009zjw.3_Splice_Site_p.E1030_splice|LRRK2_uc001rmi.3_Splice_Site_p.E1025_splice	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2192					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACACTTCTGAGGTAAATCCAA	0.363000														18			9		0	0	0.000978	0	0
PTPRK	5796	broad.mit.edu	37	6	128403649	128403649	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:128403649G>A	uc003qbk.3	-	9	2077	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	PTPRK_uc010kfc.3_Silent_p.F570F|PTPRK_uc003qbj.3_Silent_p.F570F|PTPRK_uc011ebu.2_Silent_p.F570F|PTPRK_uc003qbl.1_Silent_p.F440F|PTPRK_uc011ebv.1_Silent_p.F570F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	570	Fibronectin type-III 3.				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)		TGGCTCTTATGAAAAACTGGT	0.448000														45			39		0	0	0.008740	0	0
NBPF1	55672	broad.mit.edu	37	1	16892268	16892268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:16892268G>A	uc009vos.1	-	26	3812	c.2924C>T	c.(2923-2925)cCt>cTt	p.P975L	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	975	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAAGACTTCAGGCTCTACTGC	0.488000														537			24		0	0	0.006230	0	0
DNAH8	1769	broad.mit.edu	37	6	38906668	38906668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:38906668G>A	uc021yzh.1	+	78	12020	c.11911G>A	c.(11911-11913)Gaa>Aaa	p.E3971K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3754K|DNAH8_uc003oog.1_Missense_Mutation_p.E203K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGCCTATACGAAAACCACAA	0.373000														37			13		0	0	0.001855	0	0
ZNF257	113835	broad.mit.edu	37	19	22271303	22271303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:22271303C>T	uc010ecx.3	+	3	920	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	ZNF257_uc010ecy.3_Missense_Mutation_p.H219Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTAATTCATACTAGAGA	0.393000														25			9		0	0	0.004482	0	0
MLL3	58508	broad.mit.edu	37	7	151880115	151880115	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:151880115T>C	uc003wla.3	-	34	5428	c.5209A>G	c.(5209-5211)Aaa>Gaa	p.K1737E	MLL3_uc003wkz.3_Missense_Mutation_p.K798E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1737	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAAGGATCTTTAAAAAGCTCC	0.343000			N		medulloblastoma									128			120		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9069094	9069094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9069094G>A	uc002mkp.3	-	2	18556	c.18352C>T	c.(18352-18354)Cct>Tct	p.P6118S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6120	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D6117Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAATGTAGGATCATAGTAG	0.483000														13			6		0	0	0.001168	0	0
CDH11	1009	broad.mit.edu	37	16	65016088	65016088	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:65016088G>A	uc002eoi.3	-	7	1550	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.I372I|CDH11_uc010vin.2_Silent_p.I246I|CDH11_uc002eok.1_Non-coding_Transcript	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCTACTGAGATCTTGACGG	0.517000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				55			43		0	0	0.003610	0	0
ITGAL	3683	broad.mit.edu	37	16	30518142	30518142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:30518142C>T	uc002dyi.4	+	20	2649	c.2473C>T	c.(2473-2475)Ccg>Tcg	p.P825S	ITGAL_uc002dyj.4_Missense_Mutation_p.P741S|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	825					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCACTTCCCCCCGGGACTCTC	0.597000														85			27		0	0	0.002096	0	0
LRP1B	53353	broad.mit.edu	37	2	141747170	141747170	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141747170T>A	uc002tvj.1	-	16	3673	c.2701A>T	c.(2701-2703)Aag>Tag	p.K901*	LRP1B_uc010fnl.1_Intron|Y_RNA_uc021vqd.1_5'Flank	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	901	LDL-receptor class A 4.				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)		AGCCATCTCTTGGGGATGCAG	0.408000										TSP Lung(27;0.18)				39			28		0	0	0.007291	0	0
CNGA1	1259	broad.mit.edu	37	4	47938653	47938653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:47938653G>A	uc003gxu.3	-	9	2206	c.2065C>T	c.(2065-2067)Cct>Tct	p.P689S	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.P620S	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	620					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGATCTTTAGGATCACTGCCA	0.453000														94			21		0	0	0.002299	0	0
CABIN1	23523	broad.mit.edu	37	22	24447308	24447308	+	Silent	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:24447308T>A	uc002zzi.1	+	7	805	c.678T>A	c.(676-678)gtT>gtA	p.V226V	CABIN1_uc021wnc.1_Intron|CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.2_Silent_p.V226V|CABIN1_uc010guk.1_Silent_p.V181V|CABIN1_uc002zzk.2_Silent_p.V181V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	226					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCACGATGTTTCGGTGAGTG	0.463000														32			31		0	0	0.005524	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599501	136599501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:136599501G>A	uc003qgx.1	-	3	771	c.518C>T	c.(517-519)cCc>cTc	p.P173L	BCLAF1_uc003qgy.1_Missense_Mutation_p.P171L|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.P171L|BCLAF1_uc003qgw.1_Missense_Mutation_p.P173L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	173					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			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)		CTCTTCTTGGGGTTCCCCTTC	0.403000														143			46		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179647683	179647683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179647683C>T	uc021vsy.1	-	17	3175	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	TTN_uc021vsz.1_Missense_Mutation_p.E938K|TTN_uc021vta.1_Missense_Mutation_p.E938K|TTN_uc021vtb.1_Missense_Mutation_p.E938K|TTN_uc002unb.2_Missense_Mutation_p.E984K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	984	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y983C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGAACTTTCGATTTGGTAG	0.478000														32			9		0	0	0.008291	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855807	79855807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:79855807C>T	uc010jam.3	-	3	382	c.32G>A	c.(31-33)gGa>gAa	p.G11E	ANKRD34B_uc003kgw.3_Missense_Mutation_p.G11E|ANKRD34B_uc010jan.3_Missense_Mutation_p.G11E|ANKRD34B_uc021yax.1_Missense_Mutation_p.G11E	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	11						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAAGGAATTTCCTTCACTTGA	0.453000														9			15		0	0	0.006122	0	0
DNER	92737	broad.mit.edu	37	2	230231734	230231734	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:230231734T>C	uc002vpv.3	-	11	2104	c.1957A>G	c.(1957-1959)Atg>Gtg	p.M653V		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	653					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	p.M653L(2)		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)		ATGATCAGCATAAGGATGAAG	0.562000														14			5		0	0	0.000602	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734845	37734845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:37734845G>A	uc003xkm.2	-	1	652	c.596C>T	c.(595-597)tCg>tTg	p.S199L	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.S199L|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.S47L	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	199					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACTGTCGACCGAAGGTGTCGT	0.463000														69			60		0	0	0.003610	0	0
YME1L1	10730	broad.mit.edu	37	10	27404987	27404987	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:27404987A>G	uc001iti.3	-	18	2301	c.2091_splice	c.e18+1	p.K697_splice	YME1L1_uc001itj.3_Splice_Site_p.K640_splice|YME1L1_uc010qdl.2_Splice_Site_p.K607_splice	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	697					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAAATCTATTACCTTTTCACT	0.299000														54			53		0	0	0.003610	0	0
RAG1	5896	broad.mit.edu	37	11	36596675	36596675	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:36596675C>T	uc021qgb.1	+	0	1821	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.D607D	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	607					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.G606G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAATGGGAGACGTGAGTGAGA	0.468000									Familial Hemophagocytic Lymphohistiocytosis					28			15		0	0	0.003163	0	0
PLCG2	5336	broad.mit.edu	37	16	81971415	81971415	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:81971415C>T	uc002fgt.3	+	27	3283	c.3105C>T	c.(3103-3105)ggC>ggT	p.G1035G		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1035	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGCGCACGGGCTACGTTCTGC	0.522000														28			24		0	0	0.005443	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458768	100458769	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100458768_100458769CC>TT	uc003uwp.3	+	9	1369_1370	c.1227_1228CC>TT	c.(1225-1230)ctcctg>ctTTtg	p.409_410LL>LL	SLC12A9_uc003uwq.3_Silent_p.320_321LL>LL|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Silent_p.145_146LL>LL|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_Silent_p.145_146LL>LL|SLC12A9_uc003uwv.3_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	409						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCTGGTGCTCCTGGCTGGGAA	0.599000														31			32		0	0	0.004672	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454172	114454172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:114454172C>T	uc001eeg.3	+	3	1252	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S	DCLRE1B_uc001eeh.3_Missense_Mutation_p.P194S|DCLRE1B_uc001eei.3_Missense_Mutation_p.P194S	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	320					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCTGATTCCGGACTCTGT	0.552000								Other identified genes with known or suspected DNA repair function						19			10		0	0	0.006214	0	0
C8B	732	broad.mit.edu	37	1	57425765	57425765	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:57425765G>A	uc001cyp.3	-	1	244	c.177C>T	c.(175-177)acC>acT	p.T59T	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Silent_p.T7T	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	59					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.T59T(2)|p.T59I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGGCATCAGGGTAACATCCA	0.483000														16			29		0	0	0.008361	0	0
SMAD9	4093	broad.mit.edu	37	13	37453736	37453736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:37453736C>T	uc001uvw.3	-	1	434	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SMAD9_uc001uvx.3_Missense_Mutation_p.E31K|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	31	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCCCACTTTTCCTCTTCATCT	0.567000														46			16		0	0	0.004990	0	0
CASP10	843	broad.mit.edu	37	2	202073988	202073988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:202073988C>T	uc002uxj.1	+	8	1536	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.P306L|CASP10_uc002uxk.1_Missense_Mutation_p.P330L|CASP10_uc002uxl.2_Missense_Mutation_p.P373L|CASP10_uc002uxm.2_Missense_Mutation_p.P330L	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	373					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	p.P373A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GCCCTCATTCCCATTCGGGAG	0.517000														30			10		0	0	0.000978	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713165	189713165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:189713165C>T	uc011bsk.2	-	1	935	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	LEPREL1_uc003fsg.3_Missense_Mutation_p.E2K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	183					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTGCATTTCCATGTGCTCA	0.458000														24			18		0	0	0.004990	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616367	121616367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:121616367G>A	uc003eep.2	+	2	479	c.326G>A	c.(325-327)gGa>gAa	p.G109E	SLC15A2_uc011bjn.1_Missense_Mutation_p.G109E	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	109					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)	TCGTGGTTGGGAAAATTCAAG	0.458000														36			34		0	0	0.002445	0	0
NEK11	79858	broad.mit.edu	37	3	130881365	130881365	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:130881365A>G	uc003eny.3	+	10	1402	c.1076A>G	c.(1075-1077)aAg>aGg	p.K359R	NEK11_uc003enx.3_Missense_Mutation_p.K359R|NEK11_uc003eoa.3_Missense_Mutation_p.K359R|NEK11_uc003enz.3_Missense_Mutation_p.K177R|NEK11_uc011blk.2_Missense_Mutation_p.K211R|NEK11_uc011bll.2_Missense_Mutation_p.K254R|NEK11_uc011blm.2_Missense_Mutation_p.K359R	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	359					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AAAGCCAGGAAGCTGAAGTAA	0.498000														44			40		0	0	0.006999	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799087	25799087	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:25799087G>A	uc003nfh.4	-	11	1446	c.1330C>T	c.(1330-1332)Cta>Tta	p.L444L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.L444L|SLC17A1_uc010jqc.1_Silent_p.L388L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	444					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TAGAAAATTAGGCCAGTCACA	0.393000														34			48		0	0	0.003610	0	0
SOX9	6662	broad.mit.edu	37	17	70118998	70118998	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:70118998G>A	uc002jiw.3	+	1	942	c.570G>A	c.(568-570)gaG>gaA	p.E190E	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	190					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CGGAGGCAGAGGAGGCCACGG	0.667000														37			31		0	0	0.001786	0	0
KCNK5	8645	broad.mit.edu	37	6	39196866	39196866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:39196866G>A	uc003oon.3	-	0	386	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	8					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCGAGGTGAGCAGAGGGCCC	0.632000														34			8		0	0	0.008291	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791076	49791076	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:49791076C>T	uc001jgu.3	-	1	453	c.156G>A	c.(154-156)aaG>aaA	p.K52K	ARHGAP22_uc001jgt.3_Silent_p.K52K|ARHGAP22_uc010qgl.2_Silent_p.K52K|ARHGAP22_uc010qgm.2_Silent_p.K58K|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	52	PH.				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						GCTGCCAGTTCTTCATGATGC	0.607000														57			43		0	0	0.003214	0	0
WDR72	256764	broad.mit.edu	37	15	53889321	53889321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:53889321C>T	uc002acj.2	-	17	3145	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	1035										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTAGTTCTTCTGTCCATTCC	0.393000														115			30		0	0	0.002096	0	0
KRT9	3857	broad.mit.edu	37	17	39726464	39726464	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39726464G>A	uc002hxe.4	-	1	717	c.651C>T	c.(649-651)gaC>gaT	p.D217D	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	217	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCACTGTCAGGTCCACAATCT	0.502000														77			87		0	0	0.003610	0	0
BRSK2	9024	broad.mit.edu	37	11	1459553	1459553	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1459553G>A	uc001ltm.3	+	2	595	c.342G>A	c.(340-342)gcG>gcA	p.A114A	BRSK2_uc009ycv.1_Silent_p.A68A|BRSK2_uc001lth.1_Silent_p.A68A|BRSK2_uc001lti.3_Silent_p.A68A|BRSK2_uc001ltl.3_Silent_p.A68A|BRSK2_uc001ltj.3_Silent_p.A68A|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	68	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGAGATCGCGATCCTGAAGC	0.557000														29			22		0	0	0.002780	0	0
KERA	11081	broad.mit.edu	37	12	91445206	91445206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:91445206G>A	uc001tbl.3	-	2	1595	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	326					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CCATCCAGACGGAGGTAGCGA	0.443000														20			16		0	0	0.004990	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221815	1221816	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1221815_1221816GG>AA	uc003jbw.4	+	12	1758	c.1702_splice	c.e12-1	p.E568_splice		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	568					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTCTCCCCAGGAGGAATTTCC	0.589000														18			10		0	0	0.004672	0	0
TRPC3	7222	broad.mit.edu	37	4	122854053	122854053	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:122854053G>A	uc003ieg.2	-	1	434	c.360C>T	c.(358-360)gcC>gcT	p.A120A	TRPC3_uc010inr.2_Silent_p.A47A|TRPC3_uc003ief.2_Silent_p.A47A|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	35					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.A120V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCCGTACTCGGCGGCGTCGA	0.662000														36			13		0	0	0.003163	0	0
LLGL2	3993	broad.mit.edu	37	17	73564710	73564710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73564710C>T	uc002joh.3	+	10	1344	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	LLGL2_uc002joi.3_Missense_Mutation_p.P397L|LLGL2_uc010dgg.2_Missense_Mutation_p.P397L|LLGL2_uc002joj.3_Missense_Mutation_p.P386L|LLGL2_uc010wsd.2_Intron	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	397					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCAACATCCCGCTGAAGCTG	0.652000														35			9		0	0	0.006214	0	0
PPM1F	9647	broad.mit.edu	37	22	22277752	22277752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:22277752C>T	uc002zvp.2	-	7	1225	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	PPM1F_uc011aik.2_Missense_Mutation_p.D256N	NM_014634	NP_055449	P49593	PPM1F_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1F (PPM1F), mRNA.	360					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AAGAAGCCATCACAGGCAAGC	0.647000														19			6		0	0	0.003080	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365667	37365667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:37365667C>T	uc003cgv.3	+	13	2650	c.2290C>T	c.(2290-2292)Ctc>Ttc	p.L764F	GOLGA4_uc010hgr.2_Missense_Mutation_p.L325F|GOLGA4_uc003cgw.3_Missense_Mutation_p.L786F|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.L645F	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	764	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L764P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTTGAGCTTCTCTTGAAGGA	0.408000														41			12		0	0	0.002450	0	0
PAPPA	5069	broad.mit.edu	37	9	119097311	119097311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:119097311G>A	uc004bjn.3	+	12	3950	c.3569G>A	c.(3568-3570)aGc>aAc	p.S1190N	PAPPA_uc011lxp.1_Missense_Mutation_p.S885N|PAPPA_uc011lxq.2_Missense_Mutation_p.S565N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1190					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTCACCCTGAGCAGCTGCCAG	0.637000														50			10		0	0	0.000978	0	0
COBRA1	25920	broad.mit.edu	37	9	140151454	140151454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:140151454C>T	uc004cmm.4	+	3	748	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	182				S -> A (in Ref. 5).	negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		ACAGAGCTCTCTGTCCTGCAC	0.607000														28			20		0	0	0.003330	0	0
ST18	9705	broad.mit.edu	37	8	53030987	53030987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:53030987C>T	uc003xqz.2	-	18	2926	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	ST18_uc011ldq.1_Missense_Mutation_p.E571K|ST18_uc011ldr.1_Missense_Mutation_p.E889K|ST18_uc011lds.1_Missense_Mutation_p.E829K|ST18_uc003xra.2_Missense_Mutation_p.E924K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	924						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E924K(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTAATTTCTTCATCACTCTCT	0.313000														30			37		0	0	0.003755	0	0
DEFA1	1667	broad.mit.edu	37	8	6873538	6873538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:6873538C>T	uc003wqz.1	-	2	351	c.259G>A	c.(259-261)Gga>Aga	p.G87R		NM_004084	NP_005208	P59665	DEF1_HUMAN	Homo sapiens defensin, alpha 1 (DEFA1), mRNA.	87					chemotaxis|defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism|response to virus	extracellular space									COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		CAGAGTCTTCCCTGGTAGATG	0.473000														45			13		0	0	0.007413	0	0
RYR2	6262	broad.mit.edu	37	1	237802470	237802470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:237802470C>T	uc001hyl.1	+	45	7204	c.7084C>T	c.(7084-7086)Ccc>Tcc	p.P2362S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2362	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGAGATGGTCCCTCACCAAA	0.438000														13			11		0	0	0.001368	0	0
ZNF212	7988	broad.mit.edu	37	7	148951059	148951059	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:148951059G>A	uc003wfp.3	+	4	1169	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GTACACCTGAGGAGCCAGAGG	0.577000														9			13		0	0	0.001855	0	0
MACROD2	140733	broad.mit.edu	37	20	15210628	15210628	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:15210628A>T	uc002wou.3	+	5	725	c.461A>T	c.(460-462)aAt>aTt	p.N154I	MACROD2_uc002wot.3_Missense_Mutation_p.N154I|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	154	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGCCATATTAATGGTTCCCAC	0.358000														29			12		0	0	0.002450	0	0
C15orf27	123591	broad.mit.edu	37	15	76496597	76496597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:76496597G>A	uc002bbq.3	+	10	1692	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N	C15orf27_uc010bkp.3_Intron|C15orf27_uc002bbr.3_Missense_Mutation_p.D329N|C15orf27_uc002bbs.3_Missense_Mutation_p.D191N	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	513						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CATGCTGGAGGACAAGTTCAG	0.547000														66			23		0	0	0.003954	0	0
DNAH5	1767	broad.mit.edu	37	5	13776665	13776665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:13776665G>A	uc003jfd.2	-	54	9298	c.9256C>T	c.(9256-9258)Ctc>Ttc	p.L3086F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3086	AAA 4 (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)					GAGAAGCAGAGCACAATATGA	0.493000									Kartagener syndrome					33			25		0	0	0.003954	0	0
IGSF21	84966	broad.mit.edu	37	1	18702815	18702815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:18702815G>A	uc001bau.2	+	6	1410	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	IGSF21_uc001bav.2_Missense_Mutation_p.G164R	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	343						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)		TGCCCCCAAAGGACCCAAAAT	0.527000														42			56		0	0	0.003610	0	0
DTD1	92675	broad.mit.edu	37	20	18724887	18724887	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:18724887G>A	uc002wrf.4	+	4	782	c.621G>A	c.(619-621)cgG>cgA	p.R207R		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA.	207					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						CCTCTGAACGGGAGCCGTAGC	0.542000														20			6		0	0	0.003080	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171931	207171931	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:207171931G>A	uc002vbp.2	+	4	2929	c.2679G>A	c.(2677-2679)aaG>aaA	p.K893K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	893							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTGTTAAAAAGCTAAATCCTC	0.353000														14			26		0	0	0.003330	0	0
EPPK1	83481	broad.mit.edu	37	8	144947143	144947143	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:144947143G>A	uc003zaa.1	-	0	292	c.279C>T	c.(277-279)ctC>ctT	p.L93L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	93						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACACAGGGAGCAGCTGGC	0.701000														4			6		0	0	0.001984	0	0
IL17RA	23765	broad.mit.edu	37	22	17581300	17581300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:17581300C>T	uc002zly.3	+	4	610	c.479C>T	c.(478-480)aCc>aTc	p.T160I		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	160					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TATGAGGTGACCGTTCACCAC	0.532000														74			27		0	0	0.004656	0	0
SHANK2	22941	broad.mit.edu	37	11	70332684	70332684	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:70332684G>A	uc001oqc.3	-	20	3628	c.3516C>T	c.(3514-3516)gcC>gcT	p.A1172A	SHANK2_uc010rqn.2_Silent_p.A648A|SHANK2_uc001opz.3_Silent_p.A643A|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	859					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCCTTGGGGGCCTCCCCTT	0.627000														26			20		0	0	0.002299	0	0
NAV1	89796	broad.mit.edu	37	1	201751423	201751423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:201751423G>A	uc021phi.1	+	5	2130	c.1783G>A	c.(1783-1785)Ggc>Agc	p.G595S	NAV1_uc001gwu.3_Missense_Mutation_p.G595S|NAV1_uc001gwv.1_Missense_Mutation_p.G103S|NAV1_uc001gww.2_Missense_Mutation_p.G204S|NAV1_uc001gwx.3_Missense_Mutation_p.G204S|NAV1_uc001gwy.1_5'UTR	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	595					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.S594L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCCCCCCTCGGGCATTGCTCG	0.577000														27			34		0	0	0.002836	0	0
PYHIN1	149628	broad.mit.edu	37	1	158909032	158909032	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158909032A>G	uc001ftb.3	+	3	824	c.574A>G	c.(574-576)Act>Gct	p.T192A	PYHIN1_uc001fta.4_Missense_Mutation_p.T192A|PYHIN1_uc001ftc.3_Missense_Mutation_p.T183A|PYHIN1_uc001ftd.3_Missense_Mutation_p.T192A|PYHIN1_uc001fte.3_Missense_Mutation_p.T183A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	192					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CACTTCCTCAACTGAGGTACA	0.498000														66			16		0	0	0.008871	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337876	40337876	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:40337876A>C	uc003gva.1	+	1	113	c.97A>C	c.(97-99)Aag>Cag	p.K33Q		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	33					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	ATATGCTCAGAAGTTGTTTAA	0.403000														26			21		0	0	0.001523	0	0
ERN1	2081	broad.mit.edu	37	17	62130643	62130643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62130643G>A	uc002jdz.2	-	15	2155	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	681	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GATGTTGAGGGAGTGGAGGTG	0.627000														31			7		0	0	0.004482	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109680996	109680996	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:109680996G>A	uc003hzc.3	-	2	425	c.244C>T	c.(244-246)Cga>Tga	p.R82*	AGXT2L1_uc010imc.3_Nonsense_Mutation_p.R76*|AGXT2L1_uc011cfm.2_Nonsense_Mutation_p.R42*|AGXT2L1_uc011cfn.2_Nonsense_Mutation_p.R9*|AGXT2L1_uc011cfo.2_Nonsense_Mutation_p.R24*	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	82					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.S81P(1)		autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TGGAGGAATCGAGAATTTGTA	0.418000														15			13		0	0	0.001855	0	0
ATPAF2	91647	broad.mit.edu	37	17	17921864	17921864	+	Nonstop_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:17921864C>A	uc002gse.1	-	7	1022	c.869G>T	c.(868-870)tGa>tTa	p.*290L	ATPAF2_uc002gsd.1_Intron	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), nuclear gene encoding mitochondrial protein, mRNA.	0					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCCCAGGCCTCACTCCTTCAG	0.647000														48			14		7.05477e-17	9.77538e-17	0.004990	1	0
MIR29B2	407025	broad.mit.edu	37	1	207975754	207975754	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:207975754C>T	uc021pik.1	-	0		c.115G>A			MIR29B2_uc001hgr.2_Non-coding_Transcript|MIR29B2_uc009xcm.1_Non-coding_Transcript					Homo sapiens microRNA 29c (MIR29C), microRNA.																		AGCAGTTCCTCTGCAGTCCAC	0.448000														10			9		0	0	0.006214	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896728	24896728	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:24896728G>T	uc001isb.2	-	9	3014	c.2527C>A	c.(2527-2529)Cct>Act	p.P843T	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.P843T|ARHGAP21_uc010qdc.1_Missense_Mutation_p.P678T	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	842					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAGGCAAGGAGGAACTGTT	0.478000														51			12		6.31663e-08	8.70053e-08	0.003163	1	0
DIDO1	11083	broad.mit.edu	37	20	61511438	61511438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:61511438G>A	uc002ydr.2	-	15	6182	c.5870C>T	c.(5869-5871)cCa>cTa	p.P1957L	DIDO1_uc002yds.2_Missense_Mutation_p.P1957L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1957	Pro-rich.				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)					CCTGGGACCTGGCATAAAGTT	0.582000														85			64		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107087259	107087259	+	RNA	SNP	T	G	G	rs55858290	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:107087259T>G	uc021ser.1	-	128		c.5473A>C								Parts of antibodies, mostly variable regions.																		CATTTGCAGATACAGTGAATT	0.478000														49			7		0	0	0.004482	0	0
ZFX	7543	broad.mit.edu	37	X	24229455	24229455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:24229455C>T	uc011mjv.2	+	9	2746	c.2497C>T	c.(2497-2499)Cac>Tac	p.H833Y	ZFX_uc004dbd.2_Missense_Mutation_p.H794Y|ZFX_uc004dbf.3_Missense_Mutation_p.H794Y|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.H794Y|ZFX_uc010nfx.2_Missense_Mutation_p.H565Y|ZFX_uc010nfz.3_Missense_Mutation_p.H450Y	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	794					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGAACCAGCACATAATGCG	0.418000														0			30		0	0	0.008361	0	0
NWD1	284434	broad.mit.edu	37	19	16918540	16918540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:16918540C>T	uc002neu.4	+	17	4302	c.3880C>T	c.(3880-3882)Ccc>Tcc	p.P1294S	NWD1_uc002net.4_Missense_Mutation_p.P1159S|NWD1_uc002nev.4_Missense_Mutation_p.P1088S|NWD1_uc021uqg.1_Missense_Mutation_p.P1159S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1294							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						GATATGCATTCCCCCTCCCGA	0.592000														42			8		0	0	0.003080	0	0
ABHD15	116236	broad.mit.edu	37	17	27893587	27893588	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:27893587_27893588CC>TT	uc002hed.2	-	0	455_456	c.397_398GG>AA	c.(397-399)ggg>AAg	p.G133K	TP53I13_uc002hee.3_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	133						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGCCACTAGCCCATCGTCCGCC	0.688000														7			8		0	0	0.004672	0	0
POLE	5426	broad.mit.edu	37	12	133237728	133237728	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:133237728C>G	uc001uks.1	-	24	2931	c.2887G>C	c.(2887-2889)Ggt>Cgt	p.G963R	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.G936R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	963					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCCAGAGAACCGTCTTCATTG	0.532000								DNA polymerases (catalytic subunits)						54			54		0	0	0.003610	0	0
MKI67	4288	broad.mit.edu	37	10	129913558	129913558	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:129913558T>C	uc001lke.3	-	6	1309	c.1114A>G	c.(1114-1116)Aga>Gga	p.R372G	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	372					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R372T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACAGATTCTCTTCTACCAGTA	0.398000														51			48		0	0	0.003610	0	0
LLGL2	3993	broad.mit.edu	37	17	73569201	73569202	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73569201_73569202CC>TT	uc002joh.3	+	19	2721_2722	c.2567_2568CC>TT	c.(2566-2568)gcc>gTT	p.A856V	LLGL2_uc002joi.3_Missense_Mutation_p.A856V|LLGL2_uc010dgg.2_Missense_Mutation_p.A856V|LLGL2_uc002joj.3_Missense_Mutation_p.A845V|LLGL2_uc010wsd.2_Missense_Mutation_p.A483V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	856					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTCGTCGAGCCGAGGACTACG	0.653000														15			20		0	0	0.004672	0	0
KRT1	3848	broad.mit.edu	37	12	53074092	53074092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:53074092C>T	uc001sau.1	-	0	100	c.41G>A	c.(40-42)gGa>gAa	p.G14E	KRT1_uc001sav.1_Missense_Mutation_p.G14E	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	14	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GAAGCCCCCTCCACTTCGGTA	0.537000														31			25		0	0	0.004656	0	0
ABCC12	94160	broad.mit.edu	37	16	48130780	48130780	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:48130780C>T	uc002efc.1	-	21	3418	c.3072G>A	c.(3070-3072)tgG>tgA	p.W1024*	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1024	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1023M(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCAGCGCAAACCACCTGAGAG	0.468000														64			18		0	0	0.002299	0	0
NCOR2	9612	broad.mit.edu	37	12	124821437	124821437	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124821437G>C	uc021rga.1	-	37	6115	c.5998C>G	c.(5998-6000)Cgc>Ggc	p.R2000G	NCOR2_uc021rgb.1_Missense_Mutation_p.R1984G|NCOR2_uc010tbb.2_Missense_Mutation_p.R1993G|NCOR2_uc010tbc.2_Missense_Mutation_p.R1983G|NCOR2_uc021rgc.1_Missense_Mutation_p.R1983G|NCOR2_uc010tax.2_Missense_Mutation_p.R114G	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2004					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGGGGTGCGGGCGATGGTG	0.731000														6			3		0	0	0.004672	0	0
SECTM1	6398	broad.mit.edu	37	17	80280141	80280141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80280141C>T	uc002keo.3	-	4	1041	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	215					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGGGTGGGCTCGGAGTCTGGG	0.637000														33			22		0	0	0.001882	0	0
SLC26A8	116369	broad.mit.edu	37	6	35960329	35960329	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:35960329C>T	uc003olm.3	-	5	861	c.750G>A	c.(748-750)ggG>ggA	p.G250G	SLC26A8_uc003oll.3_Intron|SLC26A8_uc003oln.3_Silent_p.G250G	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	250					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TAATCATAATCCCAAAGATGA	0.468000														39			45		0	0	0.003610	0	0
IRS1	3667	broad.mit.edu	37	2	227662747	227662747	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:227662747G>A	uc021vxn.1	-	0	708	c.708C>T	c.(706-708)ttC>ttT	p.F236F	IRS1_uc002voh.4_Silent_p.F236F	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	236	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTGCATCCAGAACTCCCCGG	0.612000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			22		0	0	0.003954	0	0
AOX1	316	broad.mit.edu	37	2	201480694	201480694	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:201480694G>A	uc002uvx.3	+	16	1713	c.1612_splice	c.e16-1	p.D538_splice	AOX1_uc010zhf.2_Splice_Site_p.D94_splice|AOX1_uc010fsu.3_Splice_Site	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	538					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TACTTTTCAGGATCCAGTTCA	0.398000														23			9		0	0	0.000978	0	0
SPTB	6710	broad.mit.edu	37	14	65270481	65270481	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:65270481C>T	uc001xht.3	-	2	369	c.318G>A	c.(316-318)ggG>ggA	p.G106G	SPTB_uc001xhr.3_Silent_p.G106G|SPTB_uc001xhs.3_Silent_p.G106G|SPTB_uc001xhu.3_Silent_p.G106G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	106	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCGCATCTTCCCCTTGGTGG	0.607000														8			6		0	0	0.001168	0	0
RRM1	6240	broad.mit.edu	37	11	4147981	4147981	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4147981T>A	uc001lyw.4	+	12	1707	c.1388T>A	c.(1387-1389)tTt>tAt	p.F463Y	RRM1_uc009yej.2_Non-coding_Transcript|RRM1_uc009yei.3_Missense_Mutation_p.F423Y|RRM1_uc010qyc.2_Missense_Mutation_p.F366Y|RRM1_uc010qyd.2_Missense_Mutation_p.F125Y	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	463					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ACATACGACTTTAAGAAGTTG	0.373000														33			20		0	0	0.002299	0	0
GBP7	388646	broad.mit.edu	37	1	89615181	89615181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:89615181C>T	uc001dna.2	-	6	1085	c.946G>A	c.(946-948)Gca>Aca	p.A316T	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	316						integral to membrane	GTP binding|GTPase activity	p.A316A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GCCAGAACTGCCATTGCATTC	0.547000														18			9		0	0	0.004482	0	0
CHCHD1	118487	broad.mit.edu	37	10	75541845	75541845	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:75541845C>T	uc001jvc.4	+	0	38	c.12C>T	c.(10-12)ccC>ccT	p.P4P	CHCHD1_uc001jvb.2_Silent_p.P4P	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1), mRNA.	4						nucleus				breast(1)	1	Prostate(51;0.0112)					TGGCGACACCCAGCCTGCGGG	0.677000														27			11		0	0	0.001368	0	0
ZNF98	148198	broad.mit.edu	37	19	22574587	22574587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:22574587G>A	uc002nqt.2	-	3	1572	c.1450C>T	c.(1450-1452)Cat>Tat	p.H484Y		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H484Y(3)		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)				TCTCCAGTATGAATTACCTTA	0.378000														35			21		0	0	0.005443	0	0
DNAH11	8701	broad.mit.edu	37	7	21598584	21598584	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:21598584G>A	uc003svc.3	+	2	691	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	220	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGCAGGAAAGATGGATCTGG	0.388000									Kartagener syndrome					5			7		0	0	0.006214	0	0
GPR84	53831	broad.mit.edu	37	12	54757412	54757413	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:54757412_54757413GG>AA	uc021qyp.1	-	0	223_224	c.223_224CC>TT	c.(223-225)ccc>TTc	p.P75F	GPR84_uc001sfu.3_Missense_Mutation_p.P75F	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	75						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CACAGAGAAGGGCTGAAGGAGC	0.579000														11			4		0	0	0.004672	0	0
DDX60	55601	broad.mit.edu	37	4	169142907	169142907	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:169142907G>A	uc003irp.3	-	35	5242	c.4950C>T	c.(4948-4950)tcC>tcT	p.S1650S	DDX60_uc003iro.3_Silent_p.S121S	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1650							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCCTATCAAGGAACCATGTT	0.408000														33			24		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9070548	9070548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9070548G>A	uc002mkp.3	-	2	17102	c.16898C>T	c.(16897-16899)tCc>tTc	p.S5633F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5635	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						TGACATCAGGGAAAACCCAGA	0.527000														19			4		0	0	0.000248	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047722	42047722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:42047722G>A	uc001cgz.4	-	3	3960	c.2747C>T	c.(2746-2748)tCa>tTa	p.S916L	HIVEP3_uc001cha.4_Missense_Mutation_p.S916L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	916	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCCCTGATGATTGGGCCAT	0.597000														26			41		0	0	0.008740	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768291	77768292	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:77768291_77768292GG>AA	uc003yau.2	+	9	9521_9522	c.9134_9135GG>AA	c.(9133-9135)cgg>cAA	p.R3045Q	ZFHX4_uc003yaw.1_Missense_Mutation_p.R3000Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3000						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)			CAGCTCGATCGGGAGAAAGATT	0.515000										HNSCC(33;0.089)				41			16		0	0	0.004672	0	0
MDS2	259283	broad.mit.edu	37	1	23953724	23953724	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:23953724G>A	uc001bhi.3	+	2		c.1014G>A			MDS2_uc001bhj.3_Non-coding_Transcript					Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						ctgttcaaatggtttttatgt	0.527000			T	ETV6	MDS									2			7		0	0	0.001984	0	0
PTGS1	5742	broad.mit.edu	37	9	125145992	125145992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125145992G>A	uc004bmg.1	+	7	1102	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	PTGS1_uc011lys.1_Missense_Mutation_p.G298S|PTGS1_uc010mwb.1_Missense_Mutation_p.G214S|PTGS1_uc004bmf.1_Missense_Mutation_p.G323S|PTGS1_uc004bmh.1_Missense_Mutation_p.G214S|PTGS1_uc011lyt.1_Missense_Mutation_p.G214S	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	323					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CCCCACCTGGGGCGATGAGCA	0.597000														27			11		0	0	0.000978	0	0
ZNF391	346157	broad.mit.edu	37	6	27368374	27368374	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:27368374G>A	uc003njf.1	+	2	743	c.225G>A	c.(223-225)caG>caA	p.Q75Q	ZNF391_uc021ypw.1_Silent_p.Q75Q	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACGCACAACAGAAAATTCCAA	0.393000														47			41		0	0	0.002222	0	0
ANK1	286	broad.mit.edu	37	8	41542162	41542162	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:41542162G>A	uc003xok.3	-	36	4521	c.4437C>T	c.(4435-4437)atC>atT	p.I1479I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.I795I|ANK1_uc003xoi.3_Silent_p.I1479I|ANK1_uc003xoj.3_Silent_p.I1479I|ANK1_uc003xol.3_Silent_p.I1479I|ANK1_uc003xom.3_Silent_p.I1520I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1479	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCATGTTCACGATCTCGCCAC	0.602000														18			20		0	0	0.002780	0	0
NLRC5	84166	broad.mit.edu	37	16	57060583	57060583	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:57060583C>T	uc021tiu.1	+	4	1855	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	NLRC5_uc021tit.1_Silent_p.F576F|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.F381F|NLRC5_uc021tiw.1_Silent_p.F381F|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	576					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCGCCCCTTCCTTAGCCACC	0.637000														27			25		0	0	0.005443	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221500	42221500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:42221500G>A	uc002orl.3	+	4	1206	c.1085G>A	c.(1084-1086)aGc>aAc	p.S362N	CEACAM5_uc002orj.1_Missense_Mutation_p.S361N	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	362	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AATAATCAGAGCCTCCCGGTC	0.512000														38			66		0	0	0.003610	0	0
TAF4	6874	broad.mit.edu	37	20	60575634	60575634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:60575634G>A	uc002ybs.3	-	9	2630	c.2630C>T	c.(2629-2631)cCt>cTt	p.P877L		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	877					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A876A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTCTGCAAAGGCGCTTGGAG	0.463000														38			28		0	0	0.008361	0	0
CXCR4	7852	broad.mit.edu	37	2	136875622	136875622	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:136875622C>T	uc002tuz.3	-	0	104	c.9G>A	c.(7-9)ggG>ggA	p.G3G	CXCR4_uc002tuy.3_5'Flank|CXCR4_uc010fnk.3_5'Flank	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	3	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TTACACTGATCCCCTCCATGG	0.552000														10			11		0	0	0.001368	0	0
LAD1	3898	broad.mit.edu	37	1	201356204	201356204	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:201356204C>T	uc001gwm.3	-	2	520	c.285G>A	c.(283-285)cgG>cgA	p.R95R	LAD1_uc009wzu.1_Silent_p.R117R	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	95						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCCTCTGCCTCCGCTCCTGCC	0.647000														12			13		0	0	0.001368	0	0
FCGBP	8857	broad.mit.edu	37	19	40368475	40368475	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40368475G>A	uc002omp.4	-	27	12881	c.12873C>T	c.(12871-12873)ttC>ttT	p.F4291F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4291	VWFD 10.					extracellular region	protein binding	p.P4290P(1)		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)			GGCAGGTGGTGAAGGGGCCCC	0.617000														75			15		0	0	0.007413	0	0
COMT	1312	broad.mit.edu	37	22	19951781	19951781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:19951781C>T	uc002zqu.3	+	4	823	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	COMT_uc011ahd.2_Missense_Mutation_p.H192Y|COMT_uc002zqx.3_Missense_Mutation_p.H142Y|COMT_uc021wlm.1_Missense_Mutation_p.H192Y	NM_000754	NP_009294	P21964	COMT_HUMAN	Homo sapiens catechol-O-methyltransferase (COMT), transcript variant 1, mRNA.	192					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CTTCCTCGACCACTGGAAGGA	0.592000														27			8		0	0	0.004482	0	0
RGS7	6000	broad.mit.edu	37	1	241031931	241031931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:241031931G>A	uc001hyt.2	-	1	115	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	RGS7_uc010pyh.2_Missense_Mutation_p.L163F|RGS7_uc010pyj.1_Missense_Mutation_p.L105F|RGS7_uc001hyu.2_Missense_Mutation_p.L189F|RGS7_uc009xgn.1_Missense_Mutation_p.L136F|RGS7_uc001hyv.2_Missense_Mutation_p.L189F|RGS7_uc001hyw.2_Missense_Mutation_p.L189F	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	189					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGGCTGTCAAGGATCTTCCTT	0.458000														39			26		0	0	0.006320	0	0
HYDIN	54768	broad.mit.edu	37	16	70942619	70942619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:70942619G>A	uc002ezr.3	-	47	8298	c.8147C>T	c.(8146-8148)tCc>tTc	p.S2716F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2717										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGACAGCTGGGAAATGGTTCC	0.517000														21			8		0	0	0.006214	0	0
KIF12	113220	broad.mit.edu	37	9	116857589	116857589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:116857589C>T	uc004bif.3	-	6	743	c.505G>A	c.(505-507)Gac>Aac	p.D169N	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	302	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CGCTGTGGGTCCAGCAGCAGG	0.602000														10			13		0	0	0.001855	0	0
TGM1	7051	broad.mit.edu	37	14	24730980	24730980	+	Silent	SNP	G	A	A	rs144989372	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:24730980G>A	uc001wod.3	-	2	553	c.429C>T	c.(427-429)cgC>cgT	p.R143R	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	143			R -> C (in LI1 and NCIE).|R -> H (in LI1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AAGGCTGCCCGCGGCGCACTA	0.577000														35			40		0	0	0.005524	0	0
ASXL3	80816	broad.mit.edu	37	18	31318725	31318725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:31318725G>A	uc010dmg.1	+	10	1412	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	ASXL3_uc002kxq.2_Missense_Mutation_p.E160K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATTCAGGAGGAAATTGCAGA	0.393000														43			19		0	0	0.003954	0	0
PCCA	5095	broad.mit.edu	37	13	100861600	100861600	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:100861600C>T	uc001voo.3	+	6	589	c.483C>T	c.(481-483)gtC>gtT	p.V161V	PCCA_uc010aga.3_Silent_p.V135V|PCCA_uc010tiz.2_Silent_p.V161V	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CAGAAGATGTCGTTTTCATTG	0.383000														58			45		0	0	0.003610	0	0
SLC12A2	6558	broad.mit.edu	37	5	127516636	127516636	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:127516636C>T	uc003kus.3	+	22	3326	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.I1038I	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	1054					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTGTAAGATCAGAGTATTCA	0.338000														103			48		0	0	0.003610	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642489	127642489	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:127642489G>A	uc010hsr.3	+	0	588	c.585G>A	c.(583-585)ctG>ctA	p.L195L	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Silent_p.L195L	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	195	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGAGCATTCTGGACTTAGTTC	0.358000														21			19		0	0	0.007413	0	0
OR1L8	138881	broad.mit.edu	37	9	125330187	125330187	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125330187G>A	uc004bmp.1	-	0	570	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATATGGAAGAGCAGGACAATT	0.438000														22			28		0	0	0.006320	0	0
ARMC3	219681	broad.mit.edu	37	10	23250858	23250858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:23250858C>T	uc001irm.4	+	6	666	c.583C>T	c.(583-585)Cct>Tct	p.P195S	ARMC3_uc010qcv.2_Missense_Mutation_p.P195S|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	195							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCAATACCTCCTATCTTAGA	0.353000														28			15		0	0	0.003163	0	0
PHLPP2	23035	broad.mit.edu	37	16	71701093	71701093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:71701093G>A	uc002fax.3	-	10	1778	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.S591F	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	591						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAAGGCCTTGGAGAAGAGGGT	0.463000														48			43		0	0	0.003610	0	0
OR2F1	26211	broad.mit.edu	37	7	143657918	143657918	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143657918G>A	uc003wds.1	+	0	899	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CACCAATGCTGAACCCCATGA	0.453000														34			23		0	0	0.003330	0	0
C17orf28	283987	broad.mit.edu	37	17	72952020	72952020	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72952020C>T	uc002jmj.4	-	12	1652	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V	C17orf28_uc002jmi.3_5'Flank|C17orf28_uc010wrs.2_Silent_p.V300V	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	501						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TGTTGGCAGTCACCATGGACA	0.627000														62			31		0	0	0.003271	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141656	133141656	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:133141656C>T	uc003ytj.3	-	14	2697	c.2472G>A	c.(2470-2472)tcG>tcA	p.S824S	KCNQ3_uc003yti.3_Silent_p.S704S|KCNQ3_uc010mdt.3_Silent_p.S812S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	824					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G823E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCATCCAGCTCGACCCCCCAT	0.622000														12			6		0	0	0.001984	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99025843	99025843	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:99025843G>A	uc001knb.3	-	1	142	c.96C>T	c.(94-96)tcC>tcT	p.S32S	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Silent_p.S23S|ARHGAP19_uc009xvj.3_Silent_p.S32S|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	32					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GACCTCGAAGGGAAGAATCAT	0.393000														47			9		0	0	0.004482	0	0
CDHR2	54825	broad.mit.edu	37	5	176011610	176011610	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:176011610G>A	uc021yie.1	+	18	2602	c.2328G>A	c.(2326-2328)ttG>ttA	p.L776L	CDHR2_uc003mem.2_Silent_p.L776L|CDHR2_uc003men.1_Silent_p.L776L	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	776	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTTCAACTTGACAGTGAGTG	0.612000														12			21		0	0	0.001523	0	0
SKAP2	8935	broad.mit.edu	37	7	26893780	26893780	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:26893780A>G	uc003syc.3	-	3	467	c.174_splice	c.e3-1	p.I58_splice	SKAP2_uc011jzi.2_Splice_Site|SKAP2_uc011jzj.2_Splice_Site_p.I43_splice	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	58					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCCTGAAGATAGCTACAAAAC	0.259000														34			15		0	0	0.007413	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020884	51020884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51020884C>T	uc002pss.3	-	2	2223	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	ASPDH_uc002psr.4_5'Flank	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	696						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGCAGAGGTTCGTGGATGGAG	0.697000														16			5		0	0	0.001168	0	0
FAM83C	128876	broad.mit.edu	37	20	33879806	33879806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:33879806C>T	uc021wck.1	-	0	420	c.302G>A	c.(301-303)gGg>gAg	p.G101E	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	101										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)			GCGGTCTGGCCCGGAGGCCTC	0.672000														16			13		0	0	0.001368	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39566105	39566105	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39566105C>T	uc021txj.1	+	1		c.1526C>T								Homo sapiens uncharacterized LOC100505782 (LOC100505782), non-coding RNA.																		AACCCCAACTCACTTGGTCCT	0.507000														5			5		0	0	0.000602	0	0
OR8B2	26595	broad.mit.edu	37	11	124253153	124253153	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:124253153G>A	uc010sai.2	-	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		CTAGAAACAGGAAAAAGAGGG	0.413000														37			16		0	0	0.004990	0	0
ZNF556	80032	broad.mit.edu	37	19	2873517	2873517	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:2873517G>A	uc002lwp.1	+	1	114	c.27G>A	c.(25-27)gtG>gtA	p.V9V	ZNF556_uc002lwq.3_Silent_p.V9V	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGACGTGGTTGTGGATT	0.488000														55			15		0	0	0.002450	0	0
CDKL1	8814	broad.mit.edu	37	14	50844376	50844376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:50844376G>A	uc010anu.2	-	9	1426	c.1426C>T	c.(1426-1428)Ccc>Tcc	p.P476S	CDKL1_uc001wxz.3_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GGAGCCCAGGGAGGTGTAGCA	0.532000														18			6		0	0	0.001168	0	0
ITGA8	8516	broad.mit.edu	37	10	15701017	15701017	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:15701017T>G	uc001ioc.1	-	9	929	c.929A>C	c.(928-930)cAg>cCg	p.Q310P	ITGA8_uc010qcb.1_Missense_Mutation_p.Q295P	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	310					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGTGAAATTCTGAATAAACGT	0.318000														34			9		0	0	0.008291	0	0
ADCK3	56997	broad.mit.edu	37	1	227152872	227152872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:227152872C>T	uc001hqm.1	+	7	3768	c.349C>T	c.(349-351)Cct>Tct	p.P117S	ADCK3_uc010pvp.1_Missense_Mutation_p.P80S|ADCK3_uc001hqn.1_Missense_Mutation_p.P117S|ADCK3_uc009xeq.1_Missense_Mutation_p.P65S|ADCK3_uc010pvq.1_Intron|ADCK3_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	117					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGGCCCAGCTCCTGCCTACGT	0.682000														17			5		0	0	0.000602	0	0
DSCR6	53820	broad.mit.edu	37	21	38390367	38390367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:38390367G>A	uc002yvv.3	+	3	643	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	DSCR6_uc011aec.2_Silent_p.R31R|DSCR6_uc010gnd.3_Silent_p.R31R	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	145						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				AGGTCGGCAGGAAAATGGCCC	0.632000														7			4		0	0	0.000602	0	0
ATF6B	1388	broad.mit.edu	37	6	32083638	32083638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32083638G>A	uc003nzn.3	-	17	2023	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.P661S	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	664					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CGGAGCGAGGGGGGCACTGTG	0.642000														325			42		0	0	0.003610	0	0
FGFR2	2263	broad.mit.edu	37	10	123279667	123279667	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123279667C>T	uc021pzz.1	-	6	1412	c.765G>A	c.(763-765)cgG>cgA	p.R255R	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Silent_p.R140R|FGFR2_uc021pzx.1_Silent_p.R166R|FGFR2_uc021pzy.1_Silent_p.R255R|FGFR2_uc010qtl.2_Silent_p.R255R|FGFR2_uc010qtm.2_Silent_p.R140R|FGFR2_uc021qaa.1_Silent_p.R255R|FGFR2_uc021qab.1_Silent_p.R166R|FGFR2_uc021qac.1_Silent_p.R185R|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Silent_p.R274R|FGFR2_uc010qto.2_Silent_p.R159R|FGFR2_uc001lfo.1_Silent_p.R274R|FGFR2_uc010qtp.2_Silent_p.R274R|FGFR2_uc001lfg.4_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	255					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGAGGATGGGCCGGTGAGGCG	0.567000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					13			9		0	0	0.004482	0	0
DNM1	1759	broad.mit.edu	37	9	130982538	130982538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:130982538G>A	uc022bob.1	+	5	854	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	DNM1_uc022bnx.1_Missense_Mutation_p.R256Q|DNM1_uc022bny.1_Missense_Mutation_p.R256Q|DNM1_uc022bnz.1_Missense_Mutation_p.R256Q|DNM1_uc022boa.1_Missense_Mutation_p.R256Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	256					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.R256L(3)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGCTGAACGAAAGTTCTTC	0.547000														83			17		0	0	0.001523	0	0
BTAF1	9044	broad.mit.edu	37	10	93784552	93784552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:93784552G>A	uc001khr.3	+	34	5001	c.4903G>A	c.(4903-4905)Gag>Aag	p.E1635K		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1635					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CAGCACTTCCGAGAGTGGCAC	0.418000														27			30		0	0	0.002445	0	0
SUN5	140732	broad.mit.edu	37	20	31573680	31573680	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:31573680G>A	uc002wyi.3	-	10	852	c.759C>T	c.(757-759)gcC>gcT	p.A253A		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	253	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CACCCTCAAAGGCCCAGCAAT	0.547000														12			16		0	0	0.004990	0	0
CDH8	1006	broad.mit.edu	37	16	61687684	61687684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:61687684G>A	uc002eog.2	-	11	3183	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	743					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S743P(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATCTGAATGGAGTCATATGG	0.498000														32			11		0	0	0.008291	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170117	207170117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:207170117C>T	uc002vbp.2	+	4	1115	c.865C>T	c.(865-867)Cat>Tat	p.H289Y		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	289							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTTGAAATTCCATGAACGCAT	0.358000														7			20		0	0	0.001523	0	0
PRDM15	63977	broad.mit.edu	37	21	43256264	43256264	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:43256264C>G	uc002yzq.1	-	16	2445	c.2334G>C	c.(2332-2334)gaG>gaC	p.E778D	PRDM15_uc002yzo.3_Missense_Mutation_p.E449D|PRDM15_uc002yzp.3_Missense_Mutation_p.E449D|PRDM15_uc002yzr.1_Missense_Mutation_p.E449D	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTTTAGGCTCTCTTTGCGGC	0.488000														21			23		0	0	0.008361	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797154	42797154	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:42797154G>A	uc003osn.1	+	5	1234	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	KIAA0240_uc003osm.1_Silent_p.V361V|KIAA0240_uc011duw.1_Silent_p.V361V|KIAA0240_uc003oso.1_Silent_p.V361V|KIAA0240_uc003osp.1_Silent_p.V361V	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	361										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			ACATGTCTGTGAACATTGTAA	0.498000														116			28		0	0	0.005443	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761718	130761718	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:130761718G>T	uc003qcb.3	+	1	2529	c.151G>T	c.(151-153)Gtt>Ttt	p.V51F	TMEM200A_uc003qca.3_Missense_Mutation_p.V51F|TMEM200A_uc010kfh.3_Missense_Mutation_p.V51F|TMEM200A_uc010kfi.3_Missense_Mutation_p.V51F|TMEM200A_uc021zfg.1_Missense_Mutation_p.V51F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	51						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)		TGTTGTGGTTGTTCGTGGCAA	0.502000														67			24		1.10923e-09	1.52996e-09	0.002780	1	0
CDH16	1014	broad.mit.edu	37	16	66946255	66946255	+	Missense_Mutation	SNP	C	T	T	rs147611353		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:66946255C>T	uc002eql.3	-	11	1632	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	CDH16_uc010cdy.3_Missense_Mutation_p.E480K|CDH16_uc021tjx.1_Missense_Mutation_p.E480K|CDH16_uc002eqm.3_Missense_Mutation_p.E383K	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	480	Cadherin 5.				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)		AAGGCGGGCTCGAGGTCAGCA	0.577000														32			23		0	0	0.004656	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71377056	71377056	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:71377056C>T	uc002sht.2	+	10	2309	c.1957C>T	c.(1957-1959)Caa>Taa	p.Q653*		NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	653					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATTACAAGATCAAGTAAAAAT	0.294000														38			19		0	0	0.006122	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186858	7186858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7186858C>T	uc002gfp.3	+	2	417	c.217C>T	c.(217-219)Cct>Tct	p.P73S	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.P63S	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	73					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CAGCTCCATCCCTCCAGGCAC	0.597000														26			35		0	0	0.004878	0	0
CPQ	10404	broad.mit.edu	37	8	98155407	98155407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:98155407C>T	uc003yhw.3	+	7	1581	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	472					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										CTGCCTAGGTCCTAGAAACAG	0.428000														54			10		0	0	0.008291	0	0
RNF145	153830	broad.mit.edu	37	5	158588570	158588571	+	Missense_Mutation	DNP	CT	GG	GG			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:158588570_158588571CT>GG	uc010jiq.2	-	9	1569_1570	c.1419_1420AG>CC	c.(1417-1422)ccagtg>ccCCtg	p.V474L	RNF145_uc011ddy.2_Missense_Mutation_p.V458L|RNF145_uc003lxo.2_Missense_Mutation_p.V472L|RNF145_uc011ddz.2_Missense_Mutation_p.V461L|RNF145_uc003lxp.3_Missense_Mutation_p.V444L|RNF145_uc021ygv.1_5'Flank	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	444						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTTTTCCACTGGCTCTTTTC	0.401000														7			24		0	0	0.004672	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991306	35991306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:35991306G>A	uc003jjv.2	-	0	230	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.L13F|UGT3A1_uc011cor.2_Missense_Mutation_p.L13F|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	13						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAGAAAGAAGGAAGGCCACT	0.607000														40			14		0	0	0.004007	0	0
POP1	10940	broad.mit.edu	37	8	99146750	99146750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:99146750C>T	uc003yij.4	+	6	974	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F	POP1_uc011lgv.2_Missense_Mutation_p.L292F|POP1_uc003yik.3_Missense_Mutation_p.L292F	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	292					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCAAGGGAGCCTTGTGCTTTA	0.502000														50			14		0	0	0.004990	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969266	22969266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:22969266G>A	uc003xcy.3	+	1	402	c.94G>A	c.(94-96)Gag>Aag	p.E32K	TNFRSF10C_uc011kzr.2_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	32					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TGCCCGGCAGGAGGAAGTTCC	0.557000														22			6		0	0	0.001984	0	0
DMWD	1762	broad.mit.edu	37	19	46289820	46289820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:46289820G>A	uc002pdj.1	-	2	980	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	DMWD_uc021uwc.1_5'UTR|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	312					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GAGTCGAAGTGGAAGACGCGC	0.662000														16			8		0	0	0.003080	0	0
UNC5B	219699	broad.mit.edu	37	10	73056460	73056460	+	Silent	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:73056460G>C	uc001jro.3	+	14	2902	c.2451G>C	c.(2449-2451)ggG>ggC	p.G817G	UNC5B_uc001jrp.3_Silent_p.G806G	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	817					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AAGTGGAAGGGGAGGGCCAGA	0.612000														35			12		0	0	0.001855	0	0
USH2A	7399	broad.mit.edu	37	1	216270453	216270453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:216270453C>T	uc001hku.1	-	21	5117	c.4730G>A	c.(4729-4731)gGa>gAa	p.G1577E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1577	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAAAGACGTCCCTTCTTCAA	0.368000										HNSCC(13;0.011)				26			14		0	0	0.002450	0	0
EDNRA	1909	broad.mit.edu	37	4	148453712	148453712	+	Silent	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:148453712A>T	uc003iky.3	+	3	1133	c.603A>T	c.(601-603)gtA>gtT	p.V201V	EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Missense_Mutation_p.N159Y|EDNRA_uc010ipf.1_Intron	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	201					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TTCCTTTGGTAACTGCCATTG	0.443000														80			25		0	0	0.004656	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475784	27475784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:27475784G>A	uc002dov.2	-	33	5769	c.5729C>T	c.(5728-5730)cCa>cTa	p.P1910L	GTF3C1_uc002dou.3_Missense_Mutation_p.P1910L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1910						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGTGGAGATGGGGCCTGGGC	0.642000														34			40		0	0	0.007835	0	0
CACNA1E	777	broad.mit.edu	37	1	181741302	181741302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:181741302G>A	uc009wxt.3	+	36	5269	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1692K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1673K|CACNA1E_uc001gox.1_Missense_Mutation_p.E918K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1692					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAACGAGAACGAACGCTGCGG	0.557000														47			39		0	0	0.008740	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825278	43825278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:43825278C>T	uc010skx.2	-	21	3118	c.3118G>A	c.(3118-3120)Gga>Aga	p.G1040R	ADAMTS20_uc001rno.1_Missense_Mutation_p.G194R|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G194R	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1040	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTTTGTTCCTTTACCACAT	0.383000														87			43		0	0	0.003610	0	0
SLC12A3	6559	broad.mit.edu	37	16	56947280	56947280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:56947280G>A	uc002ekd.4	+	25	3085	c.3056G>A	c.(3055-3057)gGa>gAa	p.G1019E	SLC12A3_uc010ccm.3_Missense_Mutation_p.G1010E|SLC12A3_uc010ccn.3_Missense_Mutation_p.G1018E	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	1010					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGATCCGAGGAAACCAGGAA	0.552000														52			47		0	0	0.003610	0	0
EPHX1	2052	broad.mit.edu	37	1	226026479	226026479	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:226026479C>T	uc001hpk.3	+	3	569	c.489C>T	c.(487-489)ctC>ctT	p.L163L	EPHX1_uc001hpl.3_Silent_p.L163L	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	163					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCATCCCACTCCTGACTGACC	0.572000														36			47		0	0	0.003610	0	0
TRPM3	80036	broad.mit.edu	37	9	73461349	73461349	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:73461349G>A	uc004aid.3	-	3	865	c.621C>T	c.(619-621)ctC>ctT	p.L207L	TRPM3_uc004ahu.3_Silent_p.L37L|TRPM3_uc004ahv.3_Silent_p.L37L|TRPM3_uc004ahw.3_Silent_p.L54L|TRPM3_uc004ahx.3_Silent_p.L54L|TRPM3_uc004ahy.3_Silent_p.L54L|TRPM3_uc004ahz.3_Silent_p.L54L|TRPM3_uc004aia.3_Silent_p.L54L|TRPM3_uc004aib.3_Silent_p.L54L|TRPM3_uc004aic.3_Silent_p.L207L|TRPM3_uc010mor.3_Silent_p.L207L|TRPM3_uc004aie.3_Silent_p.L54L|TRPM3_uc004aif.3_Silent_p.L54L|TRPM3_uc004aig.3_Silent_p.L54L|TRPM3_uc004aii.3_Silent_p.L209L	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	207						integral to membrane	calcium channel activity	p.A206S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGCTTTGATGAGCCCTTTCC	0.483000														89			68		0	0	0.003610	0	0
ZNF512	84450	broad.mit.edu	37	2	27830716	27830716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:27830716C>T	uc002rla.3	+	9	1028	c.941C>T	c.(940-942)tCc>tTc	p.S314F	ZNF512_uc010ylw.2_Missense_Mutation_p.S285F|ZNF512_uc002rlb.3_Missense_Mutation_p.S235F|ZNF512_uc010ylx.2_Missense_Mutation_p.S235F|ZNF512_uc002rlc.3_Missense_Mutation_p.S235F|ZNF512_uc010ylv.2_Missense_Mutation_p.S235F|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.S207F	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TTGCAGATATCCTTCTTTCCA	0.468000														17			11		0	0	0.002450	0	0
GABRA2	2555	broad.mit.edu	37	4	46252353	46252353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:46252353C>T	uc011bzc.1	-	9	1755	c.1343G>A	c.(1342-1344)aGa>aAa	p.R448K	GABRA2_uc003gxc.3_Missense_Mutation_p.R443K|GABRA2_uc010igc.2_Missense_Mutation_p.R443K			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	443					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R443K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACAGGTTCTCTGTTTAAATA	0.348000														66			19		0	0	0.008871	0	0
AGA	175	broad.mit.edu	37	4	178361493	178361493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:178361493G>A	uc003iuu.2	-	1	343	c.215C>T	c.(214-216)tCt>tTt	p.S72F	AGA_uc003iuw.3_Missense_Mutation_p.S72F|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	72			S -> P (in AGU; Arab. Specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum).		asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AAAGCCTACAGAGCCGTCACA	0.498000														55			85		0	0	0.003610	0	0
KLHL36	79786	broad.mit.edu	37	16	84690691	84690691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:84690691C>T	uc002fig.3	+	2	419	c.278C>T	c.(277-279)tCc>tTc	p.S93F	KLHL36_uc010chl.3_Missense_Mutation_p.S92F	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	93	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGGCGCCTCCTACATTGGG	0.607000														22			11		0	0	0.001368	0	0
FCGRT	2217	broad.mit.edu	37	19	50029284	50029284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:50029284C>T	uc002pog.2	+	5	1228	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	FCGRT_uc002poe.2_Missense_Mutation_p.R336C|FCGRT_uc002poi.2_Non-coding_Transcript|RCN3_uc002poj.3_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	336					antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GATCTCCCTTCGTGGAGACGA	0.597000														87			30		0	0	0.002836	0	0
KANK2	25959	broad.mit.edu	37	19	11285256	11285256	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:11285256C>G	uc002mqm.3	-	6	2064	c.1985G>C	c.(1984-1986)cGg>cCg	p.R662P	KANK2_uc021upe.1_Missense_Mutation_p.R654P|KANK2_uc002mqo.4_Missense_Mutation_p.R654P|KANK2_uc002mqp.1_Missense_Mutation_p.R463P	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	654										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCCAGCAGCCGCGCAGACAT	0.667000														3			3		0	0	0.004672	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708045	126708045	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:126708045C>T	uc003ejg.3	+	0	609	c.609C>T	c.(607-609)agC>agT	p.S203S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	203	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACTGTCCAGCCGTCGGCTCA	0.617000														38			7		0	0	0.004482	0	0
ITLN2	142683	broad.mit.edu	37	1	160920899	160920899	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160920899C>T	uc001fxd.3	-	3	433	c.375G>A	c.(373-375)ggG>ggA	p.G125G	ITLN2_uc009wts.3_Silent_p.G124G|ITLN2_uc010pju.2_Silent_p.G42G	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	125	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)			AGTTGCCATCCCCCTCTGGGT	0.592000														15			22		0	0	0.002299	0	0
OR52D1	390066	broad.mit.edu	37	11	5510570	5510570	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5510570C>A	uc010qzg.2	+	0	656	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATGGGACTGGATTCCAT	0.493000														78			68		2.17656e-39	3.02847e-39	0.003610	1	0
CMKLR1	1240	broad.mit.edu	37	12	108686645	108686645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:108686645G>A	uc009zuw.3	-	2	286	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CMKLR1_uc001tmw.3_Missense_Mutation_p.S32F|CMKLR1_uc001tmv.3_Missense_Mutation_p.S30F|CMKLR1_uc009zuv.3_Missense_Mutation_p.S32F|CMKLR1_uc021rdj.1_Missense_Mutation_p.S30F	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	32					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TTCCAAGGGGGATAAGTCCTC	0.488000														17			9		0	0	0.004482	0	0
MURC	347273	broad.mit.edu	37	9	103348047	103348047	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:103348047G>A	uc004bba.3	+	2	499	c.409_splice	c.e2-1	p.E137_splice		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	Homo sapiens muscle-related coiled-coil protein (MURC), mRNA.	137					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)				TCTCCTTCAGGAGAAGTTTCG	0.428000														14			6		0	0	0.001984	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64635377	64635378	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:64635377_64635378AG>CA	uc003dmg.3	-	9	1572_1573	c.1540_1541CT>TG	c.(1540-1542)ctt>TGt	p.L514C	ADAMTS9_uc011bfo.2_Missense_Mutation_p.L486C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L343C|ADAMTS9_uc003dmk.1_Missense_Mutation_p.L514C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	514	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGTTGTAAAGGATGCCTGGC	0.470000														284			181		0	0	0.004672	0	0
UNC79	57578	broad.mit.edu	37	14	94089130	94089130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94089130G>A	uc001ybv.1	+	27	5169	c.5086G>A	c.(5086-5088)Gag>Aag	p.E1696K	UNC79_uc001ybs.1_Missense_Mutation_p.E1674K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1851						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATCCAGAGAGAGTACCTCGA	0.463000														46			10		0	0	0.008291	0	0
WDR25	79446	broad.mit.edu	37	14	100996330	100996330	+	Silent	SNP	C	T	T	rs149360659	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:100996330C>T	uc010avx.3	+	6	1680	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	WDR25_uc001yhn.3_Silent_p.S529S|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Silent_p.S272S	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	529										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TGCTGCCCTCCGTCCTCGCCA	0.627000														33			6		0	0	0.001984	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119217037	119217037	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:119217037G>A	uc010rzg.1	-	1	262	c.102C>T	c.(100-102)tgC>tgT	p.C34C	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	34					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGGGGGAGGGCAGGGTGGCC	0.637000														2			5		0	0	0.000602	0	0
IL20	50604	broad.mit.edu	37	1	207039657	207039657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:207039657G>A	uc001her.3	+	1	217	c.173G>A	c.(172-174)gGa>gAa	p.G58E	IL20_uc009xby.3_Missense_Mutation_p.G58E	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	58					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GCCAAAGATGGAAACATTGAC	0.478000														50			20		0	0	0.008871	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056034	85056034	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:85056034C>T	uc002bkm.2	-	5		c.526G>A								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CTTAGATGGCCCTGCTGGGGG	0.512000														12			5		0	0	0.003080	0	0
VSX1	30813	broad.mit.edu	37	20	25056959	25056959	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:25056959G>A	uc002wuf.3	-	4	1071	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	VSX1_uc002wue.3_Intron|VSX1_uc010gdd.2_Intron|VSX1_uc010gde.2_Intron|VSX1_uc010gdf.2_Intron	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	Homo sapiens visual system homeobox 1 (VSX1), transcript variant 1, mRNA.	346					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GAGCCTCCTTGAGCACCAGCC	0.587000														27			21		0	0	0.001882	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435355	18435355	+	Silent	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18435355T>C	uc001rdt.3	+	1	456	c.340T>C	c.(340-342)Tta>Cta	p.L114L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L114L|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	114					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCTTCTGTGTTACCAAAACC	0.413000														45			52		0	0	0.003610	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	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														14			5		0	0	0.000602	0	0
ANO4	121601	broad.mit.edu	37	12	101520720	101520720	+	Silent	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:101520720A>C	uc010svm.1	+	26	3312	c.2740A>C	c.(2740-2742)Agg>Cgg	p.R914R	ANO4_uc001thw.2_Silent_p.R879R|ANO4_uc001thx.2_Silent_p.R914R|ANO4_uc001thy.2_Silent_p.R434R	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	914						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAAGACCTAAGGGATCGAAT	0.438000										HNSCC(74;0.22)				16			13		0	0	0.002450	0	0
ALOX5	240	broad.mit.edu	37	10	45878075	45878075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:45878075C>T	uc001jce.3	+	1	394	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	ALOX5_uc009xmt.3_Missense_Mutation_p.P99S|ALOX5_uc010qfg.2_Missense_Mutation_p.P99S|ALOX5_uc021ppr.1_Missense_Mutation_p.P99S	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	99	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CATCGAGTTCCCCTGCTACCG	0.602000														9			4		0	0	0.000248	0	0
PSD4	23550	broad.mit.edu	37	2	113955427	113955427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:113955427C>T	uc002tjc.3	+	13	2744	c.2561C>T	c.(2560-2562)aCc>aTc	p.T854I	PSD4_uc002tjd.3_Missense_Mutation_p.T474I|PSD4_uc002tje.3_Missense_Mutation_p.T824I|PSD4_uc002tjf.3_Missense_Mutation_p.T475I|PSD4_uc002tjg.3_Missense_Mutation_p.T20I|PSD4_uc010yxs.2_Missense_Mutation_p.T84I|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	854	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGCATTACACCAAGAAGCCG	0.652000														7			3		0	0	0.000248	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86643123	86643123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:86643123C>T	uc003hpk.3	+	2	715	c.266C>T	c.(265-267)cCa>cTa	p.P89L	ARHGAP24_uc003hpi.1_Missense_Mutation_p.P89L|ARHGAP24_uc003hpj.3_Missense_Mutation_p.P89L|MIR4451_uc021xps.1_5'Flank	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	89	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GAAGTAGTTCCAGGTAAGATA	0.373000														17			19		0	0	0.001523	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944201	50944201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:50944201G>A	uc002psf.2	+	7	688	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	213					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CATCCCCCCGGAGATTTGGGA	0.577000														13			6		0	0	0.001168	0	0
HBP1	26959	broad.mit.edu	37	7	106836326	106836326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:106836326G>A	uc003vdy.3	+	8	1301	c.1115G>A	c.(1114-1116)aGt>aAt	p.S372N	HBP1_uc011klv.2_Missense_Mutation_p.S382N|HBP1_uc003vdz.3_Missense_Mutation_p.S372N|HBP1_uc003vea.3_Missense_Mutation_p.S372N|HBP1_uc003veb.1_Missense_Mutation_p.S372N	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	372					Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTGTTAAGTAGTATGGCTCGC	0.368000														41			32		0	0	0.003610	0	0
MCM2	4171	broad.mit.edu	37	3	127325561	127325561	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:127325561C>T	uc003ejp.3	+	5	1059	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	MCM2_uc011bkm.2_Silent_p.F204F|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.F218F	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	334					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding	p.F334F(1)		ovary(3)|skin(2)|stomach(1)	6						AGTGCAATTTCGTCCTGGGTC	0.592000														31			42		0	0	0.003214	0	0
ZFAT	57623	broad.mit.edu	37	8	135649862	135649863	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:135649862_135649863GG>AA	uc003yup.3	-	2	475_476	c.289_290CC>TT	c.(289-291)ccg>TTg	p.P97L	ZFAT_uc003yun.3_Missense_Mutation_p.P85L|ZFAT_uc003yuo.3_Missense_Mutation_p.P85L|ZFAT_uc010meh.3_Missense_Mutation_p.P85L|ZFAT_uc010mej.3_Missense_Mutation_p.P97L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.P85L|ZFAT_uc003yur.3_Missense_Mutation_p.P85L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCTCAGTCGGACTCACGATG	0.569000														29			21		0	0	0.004672	0	0
HMCN1	83872	broad.mit.edu	37	1	186105887	186105887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:186105887C>T	uc001grq.1	+	86	13629	c.13400C>T	c.(13399-13401)cCt>cTt	p.P4467L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P36L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4467	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGGAGAGCCTCAACCAACC	0.443000														42			10		0	0	0.008291	0	0
SLC6A12	6539	broad.mit.edu	37	12	307150	307150	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:307150G>T	uc001qhz.3	-	9	1530	c.866C>A	c.(865-867)aCc>aAc	p.T289N	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.T289N|SLC6A12_uc001qib.3_Missense_Mutation_p.T289N|SLC6A12_uc009zdh.2_Missense_Mutation_p.T289N	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	289					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G288D(1)		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)			GAAGATCTGGGTGCCCGCATC	0.587000														12			14		1.99824e-07	2.75112e-07	0.004990	1	0
AFF3	3899	broad.mit.edu	37	2	100210262	100210263	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:100210262_100210263GG>AA	uc002taf.3	-	13	2079_2080	c.1935_1936CC>TT	c.(1933-1938)gtcccc>gtTTcc	p.P646S	AFF3_uc002tag.3_Missense_Mutation_p.P621S|AFF3_uc010fiq.1_Missense_Mutation_p.P621S|AFF3_uc010yvr.1_Missense_Mutation_p.P774S|AFF3_uc002tah.1_Missense_Mutation_p.P646S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	621					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCTCCGGGGGGACCACCACGC	0.743000														22			7		0	0	0.004672	0	0
FAT4	79633	broad.mit.edu	37	4	126239214	126239214	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:126239214C>T	uc003ifj.4	+	0	1648	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	550	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGATTGTTCTGAATATAAG	0.517000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			16		0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	141747168	141747168	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141747168C>T	uc002tvj.1	-	16	3675	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	LRP1B_uc010fnl.1_Intron|Y_RNA_uc021vqd.1_5'Flank	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	901	LDL-receptor class A 4.				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)		AAAGCCATCTCTTGGGGATGC	0.413000										TSP Lung(27;0.18)				40			29		0	0	0.008361	0	0
PEX5	5830	broad.mit.edu	37	12	7360659	7360659	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:7360659C>T	uc009zfu.2	+	12	1744	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	PEX5_uc001qsw.3_Silent_p.A388A|PEX5_uc010sgc.2_Silent_p.A403A|PEX5_uc001qsu.3_Silent_p.A351A|PEX5_uc010sgd.2_Silent_p.A409A|PEX5_uc001qsv.3_Silent_p.A380A	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	388					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AACTATTAGCCATCAGTGCAT	0.493000														19			13		0	0	0.002450	0	0
TRIM47	91107	broad.mit.edu	37	17	73872477	73872477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73872477C>T	uc002jpw.3	-	2	895	c.868G>A	c.(868-870)Gag>Aag	p.E290K	TRIM47_uc002jpv.3_Missense_Mutation_p.E52K	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.	290						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCCCTCCTCGATGAAGCCC	0.682000														15			10		0	0	0.000978	0	0
COL6A6	131873	broad.mit.edu	37	3	130287203	130287203	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:130287203G>C	uc010htl.3	+	4	2187	c.2156G>C	c.(2155-2157)cGg>cCg	p.R719P		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	719	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGGGCGCCCGGCCCAACATC	0.502000														43			35		0	0	0.003271	0	0
GALNT8	26290	broad.mit.edu	37	12	4853837	4853837	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:4853837G>A	uc001qne.1	+	3	923	c.831G>A	c.(829-831)ttG>ttA	p.L277L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	277	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCGCCATCTTGGATGCTCACA	0.493000														20			10		0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9056722	9056722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9056722C>T	uc002mkp.3	-	2	30928	c.30724G>A	c.(30724-30726)Ggg>Agg	p.G10242R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10244	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						GAGGTTATCCCAGTGGACTCC	0.453000														32			25		0	0	0.003954	0	0
PEG3	5178	broad.mit.edu	37	19	57335843	57335843	+	Silent	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:57335843G>T	uc002qnu.2	-	0	532	c.181C>A	c.(181-183)Cgg>Agg	p.R61R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.R61R|PEG3_uc002qnv.2_Silent_p.R61R|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.R61R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	61	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		AGGGTCTTCCGAGGCCCAACA	0.507000														20			26		2.4375e-19	3.38061e-19	0.007291	1	0
RND2	8153	broad.mit.edu	37	17	41177998	41177998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:41177998G>A	uc002icn.3	+	1	231	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_005440	NP_005431	P52198	RND2_HUMAN	Homo sapiens Rho family GTPase 2 (RND2), mRNA.	42					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACCGTGTTTGAGAACTACAC	0.542000														28			26		0	0	0.008361	0	0
NPM2	10361	broad.mit.edu	37	8	21891767	21891767	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:21891767A>C	uc003xac.3	+	6	1142	c.512A>C	c.(511-513)aAg>aCg	p.K171T	NPM2_uc003xad.3_Missense_Mutation_p.K171T|NPM2_uc003xae.3_Missense_Mutation_p.K171T|NPM2_uc003xaf.3_Intron	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 2 (NPM2), mRNA.	171					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GTGCCCCAGAAGCAGGCGAGC	0.562000														36			10		0	0	0.001855	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610002	38610002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:38610002G>A	uc002ohk.3	+	8	2857	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	783	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCCCCAGTGGAACCACATTC	0.542000														51			54		0	0	0.003610	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617456	28617456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:28617456C>T	uc002dqn.3	-	9	1561	c.969G>A	c.(967-969)atG>atA	p.M323I	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.M232I|SULT1A1_uc002dqi.3_Missense_Mutation_p.M232I|SULT1A1_uc002dqk.3_Missense_Mutation_p.M232I|SULT1A1_uc002dql.3_Missense_Mutation_p.M232I|SULT1A1_uc002dqm.3_Missense_Mutation_p.M154I|SULT1A1_uc002dqp.3_Missense_Mutation_p.M232I	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	232					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTTCTTCTTCATCTCCTTGA	0.567000														83			15		0	0	0.004990	0	0
RBM10	8241	broad.mit.edu	37	X	47045478	47045479	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:47045478_47045479GG>AA	uc004dhi.3	+	21	2869_2870	c.2640_2641GG>AA	c.(2638-2643)cgggac>cgAAac	p.D881N	RBM10_uc004dhf.3_Missense_Mutation_p.D816N|RBM10_uc004dhh.3_Missense_Mutation_p.D815N|RBM10_uc010nhq.3_Missense_Mutation_p.D739N|RBM10_uc004dhg.3_Missense_Mutation_p.D738N	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	816	G-patch.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGAAGTACCGGGACCGTGCAGC	0.559000														0			9		0	0	0.004672	0	0
KDM2B	84678	broad.mit.edu	37	12	121878617	121878617	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:121878617A>C	uc001uat.3	-	21	3714	c.3610_splice	c.e21+1	p.G1204_splice	KDM2B_uc010szy.2_Splice_Site_p.G644_splice|KDM2B_uc001uaq.3_Splice_Site_p.G644_splice|KDM2B_uc001uar.3_Splice_Site_p.G795_splice|KDM2B_uc001uas.3_Splice_Site_p.G1135_splice|KDM2B_uc021rfd.1_Splice_Site_p.G1135_splice|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Splice_Site_p.G1204_splice|KDM2B_uc001uao.3_Splice_Site_p.G452_splice|KDM2B_uc010szx.2_Splice_Site_p.G452_splice|KDM2B_uc001uap.3_Splice_Site	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1204					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGGCAACTCACCTGGCCTGT	0.607000														14			11		0	0	0.002450	0	0
FAM190A	401145	broad.mit.edu	37	4	91230275	91230275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:91230275G>A	uc003hsv.4	+	1	1180	c.840G>A	c.(838-840)atG>atA	p.M280I	FAM190A_uc003hsu.3_Missense_Mutation_p.M280I|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.M280I	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	280										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GTGGAAGCATGGCATCCCACT	0.428000														115			78		0	0	0.003610	0	0
SMAD9	4093	broad.mit.edu	37	13	37453718	37453718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:37453718C>T	uc001uvw.3	-	1	452	c.109G>A	c.(109-111)Gca>Aca	p.A37T	SMAD9_uc001uvx.3_Missense_Mutation_p.A37T|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	37	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGTCCACTGCCTTCTCTGCC	0.572000														53			13		0	0	0.004007	0	0
C4orf50	389197	broad.mit.edu	37	4	5961053	5961053	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:5961053C>T	uc003git.2	-	6		c.2178G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGTTCTGCTTCAAATATTTAT	0.428000														58			18		0	0	0.006122	0	0
OPLAH	26873	broad.mit.edu	37	8	145111541	145111541	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145111541G>A	uc003zar.3	-	12	1906	c.1824C>T	c.(1822-1824)ttC>ttT	p.F608F	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	608							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGGCTGCCCCGAAGTCCCCCG	0.677000														5			15		0	0	0.004990	0	0
IDO1	3620	broad.mit.edu	37	8	39785653	39785653	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:39785653C>T	uc003xnm.3	+	9	1275	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	387					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TAATGAATTTCCTGAAGACTG	0.418000														12			13		0	0	0.002450	0	0
SVEP1	79987	broad.mit.edu	37	9	113228143	113228143	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:113228143A>G	uc010mtz.3	-	18	3659	c.3322_splice	c.e18+1	p.V1108_splice	SVEP1_uc010mua.1_Splice_Site_p.V1108_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1108					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						GGCTTTGATAACCTCCACATG	0.418000														17			9		0	0	0.004482	0	0
KIAA1429	25962	broad.mit.edu	37	8	95530059	95530059	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:95530059G>A	uc003ygo.2	-	9	2696	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L	KIAA1429_uc003ygp.3_Silent_p.L875L|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	875					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)			AAAGCTTCAAGAGAGATGCTG	0.343000														11			11		0	0	0.000978	0	0
BTAF1	9044	broad.mit.edu	37	10	93773519	93773519	+	Silent	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:93773519A>C	uc001khr.3	+	30	4505	c.4407A>C	c.(4405-4407)atA>atC	p.I1469I		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1469					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTAAACCTATATTAGCAAGTA	0.388000														27			20		0	0	0.007413	0	0
CUBN	8029	broad.mit.edu	37	10	16916440	16916440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:16916440C>T	uc001ioo.3	-	57	9221	c.9169G>A	c.(9169-9171)Gac>Aac	p.D3057N	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.D413N	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3057	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGGGTAGTCTGCGTATGAA	0.423000														50			17		0	0	0.004990	0	0
AP3D1	8943	broad.mit.edu	37	19	2114268	2114268	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:2114268C>T	uc002lva.3	-	21	2680	c.2457G>A	c.(2455-2457)caG>caA	p.Q819Q	AP3D1_uc010dsv.3_5'Flank|AP3D1_uc002luy.3_Silent_p.Q728Q|AP3D1_uc002luz.3_Silent_p.Q819Q	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	819					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		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)		TTCTGTGTTTCTGAATAGGCA	0.512000														14			6		0	0	0.001984	0	0
WSCD2	9671	broad.mit.edu	37	12	108589878	108589878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:108589878G>A	uc001tms.3	+	1	1013	c.269G>A	c.(268-270)gGa>gAa	p.G90E	WSCD2_uc001tmt.3_Missense_Mutation_p.G90E	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	90						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CGCAGGTACGGACCCTGGTTC	0.612000														36			18		0	0	0.007413	0	0
ARMC4	55130	broad.mit.edu	37	10	28224136	28224136	+	Silent	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:28224136T>G	uc009xky.3	-	15	2396	c.2298A>C	c.(2296-2298)acA>acC	p.T766T	ARMC4_uc010qds.2_Silent_p.T291T|ARMC4_uc010qdt.2_Silent_p.T458T|ARMC4_uc001itz.3_Silent_p.T766T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	766							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGGCTGATCTGTTAGAAGTC	0.428000														65			16		0	0	0.004007	0	0
COL4A1	1282	broad.mit.edu	37	13	110823043	110823043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:110823043C>T	uc001vqw.4	-	41	3715	c.3593G>A	c.(3592-3594)gGg>gAg	p.G1198E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1198	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTGGGCTCCCGGCTAATCC	0.577000														27			19		0	0	0.003954	0	0
CCDC108	255101	broad.mit.edu	37	2	219888853	219888853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219888853C>T	uc002vjl.1	-	14	2563	c.2479G>A	c.(2479-2481)Ggc>Agc	p.G827S		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	827						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACAAGGCCCGAAGTGGGC	0.607000														6			18		0	0	0.007413	0	0
MTBP	27085	broad.mit.edu	37	8	121519043	121519043	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:121519043T>C	uc003ypc.1	+	15	1870	c.1825T>C	c.(1825-1827)Tac>Cac	p.Y609H		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	609	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTGCTGAAGTACTTTACCTC	0.388000														21			19		0	0	0.001882	0	0
TRIM46	80128	broad.mit.edu	37	1	155152210	155152210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:155152210C>T	uc001fhs.1	+	7	1471	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.T463I|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.T337I|TRIM46_uc001fhu.1_Missense_Mutation_p.T440I|TRIM46_uc009wpg.1_Missense_Mutation_p.T450I|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	463	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGCACTATACCGTTGAGTTC	0.662000														16			9		0	0	0.004482	0	0
FCRL5	83416	broad.mit.edu	37	1	157494241	157494241	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:157494241G>A	uc009wsm.3	-	9	2225	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	FCRL5_uc001fqu.3_Silent_p.I689I|FCRL5_uc010phv.1_Silent_p.I689I|FCRL5_uc010phw.1_Silent_p.I604I	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	689	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCAGTACAGGATTGGGGAGG	0.577000														25			23		0	0	0.002780	0	0
AMBN	258	broad.mit.edu	37	4	71472178	71472178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:71472178G>A	uc003hfl.3	+	12	1176	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	359					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCTCCCTAAGGATGACATTCC	0.587000														14			14		0	0	0.001855	0	0
OR56A3	390083	broad.mit.edu	37	11	5969179	5969179	+	Silent	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5969179T>G	uc010qzt.2	+	0	603	c.603T>G	c.(601-603)ctT>ctG	p.L201L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAATCACCTTTACCAATTTG	0.473000														43			67		0	0	0.003610	0	0
AGBL2	79841	broad.mit.edu	37	11	47713758	47713758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:47713758C>T	uc001ngg.3	-	8	1047	c.745G>A	c.(745-747)Gga>Aga	p.G249R	AGBL2_uc001ngf.3_5'Flank|AGBL2_uc010rhq.1_Missense_Mutation_p.G211R|AGBL2_uc001ngh.1_Missense_Mutation_p.G193R	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	249					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTGACAATTCCTCGTTTGCCT	0.423000														2			36		0	0	0.004878	0	0
DCAF7	10238	broad.mit.edu	37	17	61657259	61657259	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61657259C>T	uc002jbc.3	+	3	700	c.483C>T	c.(481-483)ctC>ctT	p.L161L	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	161					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GAGTGAATCTCGTGTCTGGCC	0.532000														26			13		0	0	0.003163	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065158	49065158	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:49065158G>A	uc003cvt.3	-	4	608	c.516C>T	c.(514-516)gaC>gaT	p.D172D		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	172	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCAAGAAACAGTCATGTTCCT	0.522000														36			37		0	0	0.002522	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269849	150269849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:150269849G>A	uc003whl.3	+	2	773	c.691G>A	c.(691-693)Gag>Aag	p.E231K	GIMAP4_uc011kuu.2_Missense_Mutation_p.E92K|GIMAP4_uc011kuv.2_Missense_Mutation_p.E245K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	231							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGGCGGAGGAGGAGATCCA	0.537000														18			14		0	0	0.002450	0	0
TIE1	7075	broad.mit.edu	37	1	43783010	43783010	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:43783010C>T	uc001ciu.3	+	14	2727	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	TIE1_uc010oke.2_Silent_p.F805F|TIE1_uc009vwq.3_Silent_p.F806F|TIE1_uc010okg.2_Silent_p.F495F	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	850	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGGAACTTCGGCCAGGTCA	0.612000														15			35		0	0	0.007835	0	0
KRT83	3889	broad.mit.edu	37	12	52714950	52714950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:52714950C>T	uc001saf.2	-	0	233	c.170G>A	c.(169-171)gGg>gAg	p.G57E		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	57	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGAAGCCCCCGCACACGCT	0.741000														9			8		0	0	0.003080	0	0
TTF2	8458	broad.mit.edu	37	1	117633165	117633165	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:117633165C>T	uc001egy.3	+	14	2528	c.2508C>T	c.(2506-2508)ccC>ccT	p.P836P		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	836					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATACTGCCCCAGCGTAAAT	0.358000														12			20		0	0	0.001882	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963729	7963729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7963729G>A	uc002mir.3	+	2	423	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	108						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCTGTGTTATGAGACGGCCCT	0.507000														32			45		0	0	0.003610	0	0
CASC1	55259	broad.mit.edu	37	12	25267779	25267779	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:25267779G>A	uc001rgk.3	-	12	1504	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	CASC1_uc001rgj.3_Silent_p.I428I|CASC1_uc001rgm.4_Silent_p.I532I|CASC1_uc001rgl.3_Silent_p.I468I|CASC1_uc010sje.2_Silent_p.I409I|CASC1_uc010sjf.2_Silent_p.I356I|CASC1_uc010sjg.1_3'UTR	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	468										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATACATTGCTGATGCCATCAG	0.353000														25			22		0	0	0.003330	0	0
COL4A5	1287	broad.mit.edu	37	X	107829938	107829938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:107829938C>T	uc022ccg.1	+	18	1328	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	COL4A5_uc004enz.1_Missense_Mutation_p.P376S|COL4A5_uc004eob.1_5'UTR	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	376	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCGAGGATTTCCTGGAATACA	0.438000									Alport syndrome with Diffuse Leiomyomatosis					0			62		0	0	0.003610	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884876	24884876	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:24884876C>T	uc001wpf.4	+	8	4239	c.3921C>T	c.(3919-3921)ttC>ttT	p.F1307F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1307					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						TGTCCACGTTCGTCTGCATCC	0.622000														108			45		0	0	0.003610	0	0
TNK1	8711	broad.mit.edu	37	17	7290399	7290399	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7290399G>A	uc002ggi.4	+	8	1570	c.1338G>A	c.(1336-1338)ggG>ggA	p.G446G	TNK1_uc002ggj.4_Silent_p.G441G|TNK1_uc010cmf.3_Non-coding_Transcript	NM_001251902	NP_001238831	Q13470	TNK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA.	446					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CAGATGCGGGGGGCTTGCCAG	0.632000														12			7		0	0	0.001984	0	0
UBXN11	91544	broad.mit.edu	37	1	26620703	26620703	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:26620703C>T	uc001blw.3	-	8	825	c.552G>A	c.(550-552)tgG>tgA	p.W184*	UBXN11_uc001bly.3_Intron|UBXN11_uc001blz.1_Nonsense_Mutation_p.W151*|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Nonsense_Mutation_p.W151*|UBXN11_uc010ofb.1_Nonsense_Mutation_p.W109*|UBXN11_uc010ofc.1_Nonsense_Mutation_p.W26*	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	184						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TACCTGGCTTCCAGAACTTCT	0.592000														33			18		0	0	0.008871	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061501	13061501	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:13061501C>T	uc001rba.3	+	1	968	c.318C>T	c.(316-318)tcC>tcT	p.S106S		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	106						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TCCTCTTTTCCATCTGCTTCT	0.592000														88			31		0	0	0.003755	0	0
KPRP	448834	broad.mit.edu	37	1	152733095	152733095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152733095C>T	uc001fal.1	+	1	1089	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	KPRP_uc021ozf.1_Missense_Mutation_p.P344L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	344	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGGTGTCCTGTTGAGATT	0.657000														13			18		0	0	0.007413	0	0
OR52R1	119695	broad.mit.edu	37	11	4825340	4825340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4825340G>A	uc021qcs.1	-	0	271	c.271C>T	c.(271-273)Cat>Tat	p.H91Y		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATGAGCATGAAACCAGAAT	0.527000														33			18		0	0	0.006122	0	0
SLC13A5	284111	broad.mit.edu	37	17	6589527	6589527	+	Nonstop_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:6589527T>G	uc002gdj.3	-	11	1794	c.1706A>C	c.(1705-1707)tAg>tCg	p.*569S	SLC13A5_uc010clq.3_Nonstop_Mutation_p.*526S|SLC13A5_uc002gdk.3_Nonstop_Mutation_p.*552S|SLC13A5_uc010vtf.2_Nonstop_Mutation_p.*523S	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	0						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGGCTCTTCCTAAGTCTCAAT	0.498000														62			61		0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668462	176668462	+	Silent	SNP	G	A	A	rs147497362	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:176668462G>A	uc001gkz.3	+	7	4137	c.2973G>A	c.(2971-2973)aaG>aaA	p.K991K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	991					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAAAACAAGGAGTCAGTGC	0.547000														68			70		0	0	0.003610	0	0
KIAA1244	57221	broad.mit.edu	37	6	138634995	138634995	+	Silent	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:138634995T>C	uc003qhu.3	+	25	4435	c.4264T>C	c.(4264-4266)Ttg>Ctg	p.L1422L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1422					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACTTGCCGGCTTGCCTCGAAG	0.403000														33			6		0	0	0.001984	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602940	37602940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:37602940G>A	uc002yvg.3	+	13	1937	c.1858G>A	c.(1858-1860)Ggc>Agc	p.G620S	DOPEY2_uc011aeb.2_Missense_Mutation_p.G620S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	620					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGGAAGAAGGGCGGGAGCAT	0.537000														51			30		0	0	0.001786	0	0
PROL1	58503	broad.mit.edu	37	4	71265005	71265005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:71265005G>A	uc003hfi.3	+	1	177	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	1					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTAAAGAATGAAATTAACTT	0.299000														39			15		0	0	0.007413	0	0
KIAA1199	57214	broad.mit.edu	37	15	81230231	81230231	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:81230231G>A	uc002bfw.1	+	23	3578	c.3318G>A	c.(3316-3318)aaG>aaA	p.K1106K	KIAA1199_uc010unn.1_Silent_p.K1106K	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1106										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAACGTCCAAGACGGGCGTCT	0.602000														23			17		0	0	0.004990	0	0
MUC6	4588	broad.mit.edu	37	11	1020106	1020107	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1020106_1020107GG>AA	uc001lsw.2	-	28	3842_3843	c.3791_3792CC>TT	c.(3790-3792)ccc>cTT	p.P1264L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1264	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGGCTGTGGGCTTGGAGGA	0.653000														6			5		0	0	0.004672	0	0
NFATC3	4775	broad.mit.edu	37	16	68156670	68156670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:68156670C>T	uc002evo.2	+	1	1200	c.884C>T	c.(883-885)cCt>cTt	p.P295L	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.P295L|NFATC3_uc002evm.2_Missense_Mutation_p.P295L|NFATC3_uc002evn.2_Missense_Mutation_p.P295L|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	295	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCACCTGTTCCTTCACCTGGT	0.557000														37			11		0	0	0.000978	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779029	156779029	+	Missense_Mutation	SNP	C	T	T	rs144238677		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156779029C>T	uc009wsh.2	-	6	1138	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	SH2D2A_uc001fqc.1_Missense_Mutation_p.R295Q|SH2D2A_uc001fqd.2_Missense_Mutation_p.R323Q|SH2D2A_uc001fqe.2_Missense_Mutation_p.R305Q|SH2D2A_uc010phs.1_Missense_Mutation_p.R323Q	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	323	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGCTCTTCCGTAGGACAGG	0.612000														92			28		0	0	0.008361	0	0
FCGBP	8857	broad.mit.edu	37	19	40419943	40419943	+	Silent	SNP	C	T	T	rs148754431	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40419943C>T	uc002omp.4	-	5	3059	c.3051G>A	c.(3049-3051)cgG>cgA	p.R1017R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1017	VWFD 2.					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)			GACCCCCACCCCGCAGAGCCA	0.617000														5			22		0	0	0.002780	0	0
PSMD5	5711	broad.mit.edu	37	9	123594208	123594208	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:123594208C>A	uc004bko.3	-	2	353	c.334G>T	c.(334-336)Gaa>Taa	p.E112*	PSMD5_uc011lye.2_Nonsense_Mutation_p.E112*	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	112					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TCAGAATTTTCAACAATTCTT	0.353000														66			64		1.1362e-29	1.58018e-29	0.003610	1	0
HRH1	3269	broad.mit.edu	37	3	11301038	11301038	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:11301038C>T	uc010hdr.3	+	1	657	c.315C>T	c.(313-315)tcC>tcT	p.S105S	HRH1_uc010hds.3_Silent_p.S105S|HRH1_uc010hdt.3_Silent_p.S105S|HRH1_uc003bwb.4_Silent_p.S105S|HRH1_uc021wtb.1_Silent_p.S105S	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TTTGGCTTTCCATGGACTATG	0.542000														118			37		0	0	0.005524	0	0
ACOX2	8309	broad.mit.edu	37	3	58519210	58519210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:58519210C>T	uc003dkl.3	-	4	720	c.545G>A	c.(544-546)aGc>aAc	p.S182N		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	182					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CAGCGTGGGGCTGTGTATCAC	0.532000											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			15		0	0	0.003163	0	0
KCNV2	169522	broad.mit.edu	37	9	2718192	2718192	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:2718192C>T	uc003zho.2	+	0	667	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	151						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AATACTTCTTCGACCGCGACC	0.652000														1			8		0	0	0.006214	0	0
REPIN1	29803	broad.mit.edu	37	7	150069034	150069035	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:150069034_150069035CC>TT	uc010lpr.1	+	2	1068_1069	c.875_876CC>TT	c.(874-876)ccc>cTT	p.P292L	REPIN1_uc003whd.2_Missense_Mutation_p.P224L|REPIN1_uc010lpq.1_Missense_Mutation_p.P235L|REPIN1_uc003whc.2_Missense_Mutation_p.P235L|REPIN1_uc003whe.2_Missense_Mutation_p.P235L	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	235					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	p.P292H(1)|p.P235H(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GTCGACCGCCCCTTCCAGTGTG	0.748000														15			8		0	0	0.004672	0	0
C3orf17	25871	broad.mit.edu	37	3	112732175	112732175	+	Silent	SNP	A	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:112732175A>C	uc003dzr.3	-	3	478	c.417T>G	c.(415-417)gtT>gtG	p.V139V	C3orf17_uc011bia.2_Missense_Mutation_p.F17V|C3orf17_uc003dzu.3_Intron|C3orf17_uc011bib.2_Silent_p.V28V|C3orf17_uc011bic.2_Intron|C3orf17_uc011bid.2_Intron|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Silent_p.V42V|C3orf17_uc003dzs.3_Silent_p.V3V|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	139						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGGCTCCCAAAACCTTCATCA	0.398000														43			29		0	0	0.001786	0	0
OR4M1	441670	broad.mit.edu	37	14	20248889	20248889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20248889G>A	uc010tku.2	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTACCATCATGAATCGACGTC	0.502000														175			48		0	0	0.003610	0	0
WNT9B	7484	broad.mit.edu	37	17	44950042	44950042	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:44950042G>A	uc002ikw.1	+	1	274	c.237G>A	c.(235-237)agG>agA	p.R79R	WNT9B_uc002ikx.1_Silent_p.R79R	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	79					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGACCCTGAGGGATGCTGCGC	0.662000														14			17		0	0	0.004990	0	0
CEP192	55125	broad.mit.edu	37	18	13059241	13059241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:13059241C>T	uc010xac.2	+	20	4498	c.4418C>T	c.(4417-4419)aCc>aTc	p.T1473I	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.T998I|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.T1214I	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1068										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						GATGCTGAGACCATCGTACAG	0.463000														19			37		0	0	0.005524	0	0
CD177	57126	broad.mit.edu	37	19	43859878	43859878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:43859878G>A	uc002owi.3	+	3	487	c.445G>A	c.(445-447)Gag>Aag	p.E149K	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	149	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GACAACAGAAGAGATCTGCCC	0.577000														33			10		0	0	0.008291	0	0
GUCY2C	2984	broad.mit.edu	37	12	14796605	14796605	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:14796605G>A	uc001rcd.3	-	16	1970	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	611	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GACGACCATGGACTTCTGTCT	0.388000														46			47		0	0	0.003610	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2987337	2987337	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:2987337C>T	uc002csd.3	+	6	2092	c.1729C>T	c.(1729-1731)Ctg>Ttg	p.L577L	FLYWCH1_uc002csb.3_Silent_p.L576L|FLYWCH1_uc002csc.3_Silent_p.L576L|FLYWCH1_uc010bsv.3_Silent_p.L301L|FLYWCH1_uc002cse.3_Silent_p.L32L	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	577						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCTGGAGGCCCTGCGGCAGCG	0.736000														6			5		0	0	0.001168	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789038	67789038	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:67789038C>A	uc010rpy.2	+	7	760	c.644C>A	c.(643-645)cCt>cAt	p.P215H	ALDH3B1_uc001omz.3_Missense_Mutation_p.P215H|ALDH3B1_uc001ona.3_Missense_Mutation_p.P179H|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	216					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GGCAAGAACCCTTGCTACGTG	0.642000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			61		7.73544e-29	1.07532e-28	0.003610	1	0
GRM7	2917	broad.mit.edu	37	3	7620747	7620747	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:7620747C>T	uc003bqm.2	+	7	2428	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.F718F|GRM7_uc003bql.2_Silent_p.F718F|GRM7_uc003bqn.1_Silent_p.F301F|GRM7_uc010hch.1_Silent_p.F229F	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	718					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TAGGGGTGTTCATTTGGTTTG	0.443000														18			19		0	0	0.001523	0	0
C3orf67	200844	broad.mit.edu	37	3	58853583	58853583	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:58853583C>T	uc003dkt.1	-	9	1129	c.720G>A	c.(718-720)cgG>cgA	p.R240R	C3orf67_uc003dks.1_Silent_p.R55R|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.R55R|C3orf67_uc003dkw.3_Silent_p.R135R	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	240										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TACTTTTTAACCGTAATCTTC	0.388000														76			19		0	0	0.001882	0	0
OTX2	5015	broad.mit.edu	37	14	57268592	57268592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:57268592C>T	uc001xcq.3	-	4	1029	c.755G>A	c.(754-756)gGa>gAa	p.G252E	OTX2_uc001xcp.3_Missense_Mutation_p.G244E|OTX2_uc021rtm.1_Missense_Mutation_p.G74E|OTX2_uc010aou.3_Missense_Mutation_p.G244E	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	244					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCTTGAAGCTCCATATCCCTG	0.502000														27			33		0	0	0.006230	0	0
RAC2	5880	broad.mit.edu	37	22	37622712	37622712	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:37622712C>T	uc003arc.3	-	6	698	c.581_splice	c.e6+1			NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.						axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GACTCTTACCCCTAGAGGAGG	0.632000														5			7		0	0	0.003080	0	0
HHAT	55733	broad.mit.edu	37	1	210761285	210761285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:210761285G>A	uc010psr.2	+	8	1195	c.1090G>A	c.(1090-1092)Ggg>Agg	p.G364R	HHAT_uc009xcx.3_Missense_Mutation_p.G363R|HHAT_uc010psq.2_Missense_Mutation_p.G226R|HHAT_uc009xcy.3_Missense_Mutation_p.G298R|HHAT_uc010pss.2_Missense_Mutation_p.G318R|HHAT_uc010pst.2_Missense_Mutation_p.G300R|HHAT_uc001hhz.4_Missense_Mutation_p.G363R|HHAT_uc021pip.1_Missense_Mutation_p.G363R|HHAT_uc010psu.2_Missense_Mutation_p.G298R|HHAT_uc001hia.4_Missense_Mutation_p.G53R	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	363					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGCCTGCTGGGGACACTGTT	0.557000														28			19		0	0	0.001882	0	0
XAB2	56949	broad.mit.edu	37	19	7686102	7686102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7686102G>A	uc002mgx.3	-	12	1725	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	567					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCCCCATAGCGGGCAATGAAT	0.612000								Direct reversal of damage;Nucleotide excision repair (NER)						18			15		0	0	0.003163	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552692	18552692	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18552692G>A	uc001rdt.3	+	14	2219	c.2103G>A	c.(2101-2103)tgG>tgA	p.W701*	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Nonsense_Mutation_p.W742*|PIK3C2G_uc010sic.2_Nonsense_Mutation_p.W520*	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	701					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.W701C(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCCCTGGATGGGATGAAAGGA	0.408000														32			19		0	0	0.006122	0	0
JAG1	182	broad.mit.edu	37	20	10630941	10630941	+	Silent	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:10630941A>G	uc002wnw.2	-	8	1704	c.1188T>C	c.(1186-1188)ttT>ttC	p.F396F	JAG1_uc010gcd.1_5'UTR	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	396	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACACACACTTAAATCCGTTAA	0.473000									Alagille Syndrome					15			12		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	107113998	107113998	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:107113998G>A	uc021ser.1	-	96		c.4231C>T								Parts of antibodies, mostly variable regions.																		CCCCCAGGCTGGACCAAGCCT	0.577000														115			7		0	0	0.004482	0	0
GFRA1	2674	broad.mit.edu	37	10	117856168	117856168	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:117856168A>T	uc001lcj.3	-	6	1576	c.878T>A	c.(877-879)aTt>aAt	p.I293N	GFRA1_uc001lci.3_Missense_Mutation_p.I288N|GFRA1_uc009xyr.3_Missense_Mutation_p.I288N	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	293					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GATCTTACCAATAAGCCCCGA	0.493000														22			6		0	0	0.001984	0	0
PLD5	200150	broad.mit.edu	37	1	242287770	242287770	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:242287770C>T	uc001hzn.2	-	7	1160	c.933_splice	c.e7+1	p.S311_splice	PLD5_uc021pll.1_Splice_Site_p.S219_splice|PLD5_uc001hzl.4_Splice_Site_p.S249_splice|PLD5_uc001hzm.4_Splice_Site_p.S103_splice|PLD5_uc001hzo.2_Splice_Site_p.S219_splice	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	311						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AACAACTCACCGATACAAATG	0.393000														33			5		0	0	0.000602	0	0
CHRM4	1132	broad.mit.edu	37	11	46407155	46407155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:46407155G>A	uc001nct.1	-	0	953	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	318					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GGGCGTGGTGGCCTCTGTGGT	0.637000														0			31		0	0	0.007291	0	0
FAM104A	84923	broad.mit.edu	37	17	71223333	71223334	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:71223333_71223334GG>AA	uc002jjj.4	-	1	379_380	c.291_292CC>TT	c.(289-294)aaccct>aaTTct	p.P98S	FAM104A_uc002jji.4_Missense_Mutation_p.P98S	NM_001098832	NP_001092302	Q969W3	F104A_HUMAN	Homo sapiens family with sequence similarity 104, member A (FAM104A), transcript variant 1, mRNA.	98	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TGAAAGACAGGGTTTCTGCTAC	0.411000														59			40		0	0	0.004672	0	0
ZNF182	7569	broad.mit.edu	37	X	47835805	47835805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:47835805G>A	uc004dir.3	-	6	2027	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	ZNF182_uc004dis.3_Nonsense_Mutation_p.Q542*|ZNF182_uc004dit.3_Nonsense_Mutation_p.Q561*	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGCGTTCTCTGATGTATTATG	0.423000														0			33		0	0	0.002836	0	0
SLC14A2	8170	broad.mit.edu	37	18	43248391	43248391	+	Missense_Mutation	SNP	G	A	A	rs148964498	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:43248391G>A	uc002lbe.3	+	14	2801	c.1985G>A	c.(1984-1986)gGt>gAt	p.G662D	SLC14A2_uc010dnj.3_Missense_Mutation_p.G662D	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	662						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGACAAAGGTGACTACTAC	0.547000														23			13		0	0	0.001855	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175049	102175049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:102175049C>T	uc003dvt.1	+	3	488	c.388C>T	c.(388-390)Cct>Tct	p.P130S	ZPLD1_uc003dvs.1_Missense_Mutation_p.P114S|ZPLD1_uc011bhg.1_Missense_Mutation_p.P114S	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	114	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATCCACAATTCCTGGAGTCAG	0.348000														48			9		0	0	0.004482	0	0
MICAL3	57553	broad.mit.edu	37	22	18300783	18300783	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:18300783G>A	uc002zng.4	-	25	4997	c.4644C>T	c.(4642-4644)tcC>tcT	p.S1548S	MICAL3_uc011agl.2_Silent_p.S1464S|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1548						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCGGCCAGCAGGACGGGGGCG	0.637000														11			6		0	0	0.001984	0	0
BZW1	9689	broad.mit.edu	37	2	201681928	201681928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:201681928C>T	uc010zhg.2	+	5	673	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	BZW1_uc002uwc.3_Missense_Mutation_p.L168F|BZW1_uc021vus.1_Missense_Mutation_p.L172F	NM_001207068	NP_001193997	Q7L1Q6	BZW1_HUMAN	Homo sapiens basic leucine zipper and W2 domains 1 (BZW1), transcript variant 2, mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGCATCCATTCTTAATAGCCT	0.413000														46			12		0	0	0.001855	0	0
KRT33A	3883	broad.mit.edu	37	17	39506882	39506882	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39506882C>A	uc002hwk.1	-	0	175	c.138G>T	c.(136-138)tgG>tgT	p.W46C		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	46	Head.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCTCACAGAACCAGTTGCAGT	0.652000														45			27		9.80776e-20	1.36088e-19	0.006320	1	0
OR4K13	390433	broad.mit.edu	37	14	20502702	20502702	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20502702G>A	uc010tkz.2	-	0	216	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M71I(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGAAGCCAGGATCATATCAA	0.443000														45			17		0	0	0.006122	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50185643	50185643	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:50185643G>A	uc009zlk.2	-	12	4186	c.3984C>T	c.(3982-3984)tcC>tcT	p.S1328S	NCKAP5L_uc001rvc.3_Silent_p.S532S|NCKAP5L_uc001rvb.2_3'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	1324										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TCCCACAAGAGGACAGCGAGT	0.687000														5			4		0	0	0.000248	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000														28			11		0	0	0.000978	0	0
ATP2A3	489	broad.mit.edu	37	17	3850765	3850765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:3850765C>T	uc002fwy.2	-	7	1188	c.1015G>A	c.(1015-1017)Gtg>Atg	p.V339M	ATP2A3_uc002fwz.2_Missense_Mutation_p.V339M|ATP2A3_uc002fxa.2_Missense_Mutation_p.V339M|ATP2A3_uc002fxb.2_Missense_Mutation_p.V339M|ATP2A3_uc002fxc.2_Missense_Mutation_p.V339M|ATP2A3_uc002fxd.2_Missense_Mutation_p.V339M|ATP2A3_uc002fwx.2_Missense_Mutation_p.V339M	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	339					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.V339V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGGTCTCCACGGACGGCAGG	0.657000														25			24		0	0	0.003954	0	0
COL7A1	1294	broad.mit.edu	37	3	48607064	48607064	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:48607064G>A	uc003ctz.2	-	100	7576	c.7575C>T	c.(7573-7575)atC>atT	p.I2525I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2525	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCCCCAGGATCACAGCTG	0.692000														8			4		0	0	0.001168	0	0
TRPC4	7223	broad.mit.edu	37	13	38211564	38211564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:38211564G>A	uc010abx.3	-	10	2660	c.2425C>T	c.(2425-2427)Cat>Tat	p.H809Y	TRPC4_uc010abv.3_Missense_Mutation_p.H384Y|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Missense_Mutation_p.H804Y|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.H631Y|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	804	Binds to ITPR1, ITPR2 and ITPR3.				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			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)		GATCTCGGATGAATCAGGGTG	0.448000														39			39		0	0	0.006230	0	0
ANKS1A	23294	broad.mit.edu	37	6	34949512	34949512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:34949512C>T	uc003ojx.4	+	3	623	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvr.1_Non-coding_Transcript	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	161						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTATGGCCACACAGAGGT	0.547000														15			31		0	0	0.001786	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178457	42178457	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:42178457C>T	uc001zos.3	-	6	1224	c.891G>A	c.(889-891)cgG>cgA	p.R297R		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	332					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGGAAAATCCCGCGCCTCCA	0.627000														10			13		0	0	0.001855	0	0
POLR3B	55703	broad.mit.edu	37	12	106903233	106903233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:106903233C>T	uc001tlp.3	+	27	3530	c.3308C>T	c.(3307-3309)tCc>tTc	p.S1103F	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.S1045F	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	1103					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CACGTGTCTTCCCTCCGTATT	0.493000														45			11		0	0	0.000978	0	0
BEST3	144453	broad.mit.edu	37	12	70087463	70087463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:70087463C>T	uc001svg.3	-	3	699	c.472G>A	c.(472-474)Gtt>Att	p.V158I	BEST3_uc001svd.2_Missense_Mutation_p.V158I|BEST3_uc010stm.2_Missense_Mutation_p.V52I|BEST3_uc001svi.1_Non-coding_Transcript	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	158						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)			CCTGCTTCAACCACGTGGTCC	0.463000														17			9		0	0	0.004482	0	0
OR2F1	26211	broad.mit.edu	37	7	143657927	143657927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143657927G>A	uc003wds.1	+	0	908	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGAACCCCATGATTTACAGCC	0.443000														38			23		0	0	0.003954	0	0
TRPC4	7223	broad.mit.edu	37	13	38320325	38320325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:38320325G>A	uc010abx.3	-	2	881	c.646C>T	c.(646-648)Cct>Tct	p.P216S	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.P216S|TRPC4_uc001uws.3_Missense_Mutation_p.P216S|TRPC4_uc010tey.2_Missense_Mutation_p.P216S|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.P216S	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	216					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			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)		GTGAGAAAAGGATCTTCGCTT	0.498000														49			14		0	0	0.001855	0	0
PDE4B	5142	broad.mit.edu	37	1	66384348	66384348	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:66384348C>T	uc001dcn.3	+	2	302	c.111C>T	c.(109-111)atC>atT	p.I37I	PDE4B_uc009war.3_Intron|PDE4B_uc001dco.3_Silent_p.I37I	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	37					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.I37I(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CACTTGGGATCGACCTCTGGA	0.438000														33			7		0	0	0.001984	0	0
NEK2	4751	broad.mit.edu	37	1	211847012	211847012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:211847012G>A	uc001hir.2	-	2	519	c.368C>T	c.(367-369)gCc>gTc	p.A123V	NEK2_uc021piq.1_Missense_Mutation_p.A123V|NEK2_uc001his.4_Missense_Mutation_p.A123V|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	123	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTCCTTCAGGGCCAGAGTCAA	0.418000														29			33		0	0	0.003271	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909426	24909426	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:24909426C>T	uc002dmu.3	+	9	1233	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	SLC5A11_uc002dms.3_Silent_p.F270F|SLC5A11_uc010vcd.2_Silent_p.F299F|SLC5A11_uc002dmt.3_Missense_Mutation_p.P202S|SLC5A11_uc010vce.2_Silent_p.F264F|SLC5A11_uc010bxt.3_Silent_p.F270F	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	334					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCATCCTCTTCCCAGGTGAGA	0.493000														31			39		0	0	0.006999	0	0
TPTE2	93492	broad.mit.edu	37	13	19997285	19997285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:19997285C>T	uc001umd.3	-	20	1697	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E385K|TPTE2_uc001ume.3_Missense_Mutation_p.E419K|TPTE2_uc009zzm.3_Missense_Mutation_p.E167K|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.E167K	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	496	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E419*(1)|p.E496*(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTATCCAATTCATTTCTTGGT	0.368000														38			13		0	0	0.001368	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056726	120056726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120056726G>A	uc001ehv.1	+	3	725	c.580G>A	c.(580-582)Gga>Aga	p.G194R		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	194					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTATGGGGAAGGAAGCCGATT	0.498000														859			21		0	0	0.003330	0	0
ARAP2	116984	broad.mit.edu	37	4	36214080	36214080	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:36214080G>A	uc003gsq.2	-	4	1409	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	ARAP2_uc003gsr.1_Silent_p.T357T	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	357					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTCTCCCTGGGTCAAAAATT	0.333000														34			6		0	0	0.003080	0	0
PMCH	5367	broad.mit.edu	37	12	102591410	102591410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:102591410C>T	uc001tjl.3	-	0	205	c.139G>A	c.(139-141)Ggc>Agc	p.G47S		NM_002674	NP_002665	P20382	MCH_HUMAN	Homo sapiens pro-melanin-concentrating hormone (PMCH), mRNA.	47					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTCTGAAAGCCTTTCCCCAAC	0.343000														16			27		0	0	0.006320	0	0
MB21D2	151963	broad.mit.edu	37	3	192516251	192516251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:192516251C>T	uc011bsp.2	-	1	1721	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	467										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATTGACTTTCCCGGGTTCTC	0.473000														67			47		0	0	0.003610	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442121	103442121	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:103442121C>T	uc001ymi.1	-	10	1639	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	469					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGTGGAGGGACTGCACGGTCT	0.577000														108			24		0	0	0.008361	0	0
MYO1G	64005	broad.mit.edu	37	7	45007284	45007284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:45007284C>T	uc003tmh.2	-	13	1846	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	MYO1G_uc003tmg.2_Missense_Mutation_p.E330K|MYO1G_uc010kym.2_Missense_Mutation_p.E453K|MYO1G_uc003tmi.1_Missense_Mutation_p.E480K	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	568	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TTGGTCACCTCTGTGATGTCC	0.637000														17			11		0	0	0.000978	0	0
NXF4	55999	broad.mit.edu	37	X	101818258	101818258	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:101818258G>A	uc004ejf.1	+	6		c.848G>A								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						AGTCTGCCTGGAAAGGAGACT	0.567000														1			60		0	0	0.003610	0	0
KCNN3	3782	broad.mit.edu	37	1	154841962	154841962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:154841962G>A	uc021pah.1	-	0	793	c.479C>T	c.(478-480)cCc>cTc	p.P160L	KCNN3_uc001ffp.3_Missense_Mutation_p.P160L|KCNN3_uc009wox.1_Missense_Mutation_p.P160L	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	165						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTGCACCAGGGGGCTGGCCTG	0.647000														12			22		0	0	0.004656	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897030	205897030	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:205897030C>T	uc001hdp.3	-	9	1215	c.1101_splice	c.e9+1	p.Q367_splice	SLC26A9_uc001hdo.3_Splice_Site_p.Q35_splice|SLC26A9_uc001hdq.3_Splice_Site_p.Q367_splice	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	367						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGAGCTACCTGGTTCGAAT	0.607000														53			10		0	0	0.003163	0	0
PARVG	64098	broad.mit.edu	37	22	44602292	44602292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:44602292G>A	uc011aqe.2	+	13	1406	c.982G>A	c.(982-984)Gga>Aga	p.G328R	PARVG_uc003bep.3_Missense_Mutation_p.G328R|PARVG_uc011aqf.2_Missense_Mutation_p.G328R	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	328					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GACGCCCCATGGAGCCCCGAA	0.622000														7			16		0	0	0.004990	0	0
PTPRD	5789	broad.mit.edu	37	9	8317885	8317885	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:8317885A>T	uc003zkk.3	-	45	6471	c.5728T>A	c.(5728-5730)Tat>Aat	p.Y1910N	PTPRD_uc003zkp.3_Missense_Mutation_p.Y1504N|PTPRD_uc003zkq.3_Missense_Mutation_p.Y1503N|PTPRD_uc003zkr.3_Missense_Mutation_p.Y1494N|PTPRD_uc003zks.3_Missense_Mutation_p.Y1503N|PTPRD_uc022bdj.1_Missense_Mutation_p.Y1500N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1910					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TACGTTGCATAGTGGTCAAAG	0.478000										TSP Lung(15;0.13)				32			27		0	0	0.003271	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457815	45457815	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:45457815C>T	uc001rol.3	-	0		c.1380G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCTGCTGCTTCCATAAAGGCT	0.443000														42			17		0	0	0.004990	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856890	62856890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62856890G>A	uc002jey.2	-	10	3990	c.3374C>T	c.(3373-3375)cCt>cTt	p.P1125L	LRRC37A3_uc010wqg.1_Missense_Mutation_p.P243L|LRRC37A3_uc002jex.1_Missense_Mutation_p.P102L|LRRC37A3_uc010wqf.1_Missense_Mutation_p.P163L|LRRC37A3_uc010dek.1_Missense_Mutation_p.P131L|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1125						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGAGAAATAAGGTAAGATGTA	0.453000														281			93		0	0	0.003610	0	0
ZNF74	7625	broad.mit.edu	37	22	20760718	20760718	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:20760718C>T	uc010gsm.3	+	5	1607	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	ZNF74_uc002zsg.3_Silent_p.I394I|ZNF74_uc002zsh.3_Silent_p.I465I|ZNF74_uc002zsi.3_Silent_p.I394I|ZNF74_uc010gsn.3_Silent_p.I394I	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	465					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACCGGCGCATCCACAGCGGCG	0.657000														31			8		0	0	0.003080	0	0
KIAA1751	85452	broad.mit.edu	37	1	1919980	1919980	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:1919980C>T	uc001aim.1	-	3	423	c.267G>A	c.(265-267)gaG>gaA	p.E89E	KIAA1751_uc009vkz.1_Silent_p.E89E|KIAA1751_uc001ain.1_Silent_p.E89E	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	89										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCTCTTGCTCCTCATGCATCT	0.547000														21			8		0	0	0.006214	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053420	5053420	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:5053420T>A	uc002cye.2	+	10	1328	c.1148T>A	c.(1147-1149)cTa>cAa	p.L383Q		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	383	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACCTGCCTGCTAGACCTGGAG	0.632000														14			8		0	0	0.008291	0	0
FAM120A	23196	broad.mit.edu	37	9	96320190	96320190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:96320190C>T	uc004atw.3	+	13	2591	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	FAM120A_uc004aty.3_Missense_Mutation_p.P637S|FAM120A_uc004atz.3_Missense_Mutation_p.P505S|FAM120A_uc010mrg.3_Missense_Mutation_p.P169S	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	856	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCACACGCTCCCTTTCCCGCC	0.657000														13			10		0	0	0.006214	0	0
SPEG	10290	broad.mit.edu	37	2	220338472	220338472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:220338472G>A	uc010fwg.3	+	17	4294	c.4294G>A	c.(4294-4296)Gca>Aca	p.A1432T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1432	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCCTAGAGGCACGGGCCGG	0.672000														48			19		0	0	0.007413	0	0
CDH19	28513	broad.mit.edu	37	18	64235818	64235818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:64235818C>T	uc002lkc.1	-	2	463	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.E109K|CDH19_uc002lkd.3_Missense_Mutation_p.E109K	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AGGGATCGCTCCTCTCTATCA	0.433000														47			22		0	0	0.002780	0	0
ERC2	26059	broad.mit.edu	37	3	56330152	56330152	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:56330152C>T	uc021wzo.1	-	1	1109	c.969G>A	c.(967-969)gaG>gaA	p.E323E	ERC2_uc003dhr.1_Silent_p.E323E	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	323						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)		CATTGTCATCCTCCAGGCTTT	0.443000														100			94		0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442523	37442523	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:37442523G>A	uc021ppc.1	+	12	1662	c.1563G>A	c.(1561-1563)caG>caA	p.Q521Q	ANKRD30A_uc001iza.1_Silent_p.Q521Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	577						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGTTTCACAGAAGGATGTGT	0.279000														207			37		0	0	0.003610	0	0
RABGAP1	23637	broad.mit.edu	37	9	125777884	125777884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125777884C>T	uc011lzh.2	+	11	1746	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F	RABGAP1_uc004bnl.4_Non-coding_Transcript	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	538					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGAAAAAATTCTTGAAACATG	0.323000														13			16		0	0	0.004007	0	0
MYO15A	51168	broad.mit.edu	37	17	18025694	18025694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:18025694G>A	uc021trm.1	+	0	3799	c.3580G>A	c.(3580-3582)Gag>Aag	p.E1194K	MYO15A_uc021trl.1_Missense_Mutation_p.E1194K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1194	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCCTGGGAGGAGGTCGGCCC	0.632000														21			16		0	0	0.004990	0	0
ASUN	55726	broad.mit.edu	37	12	27070630	27070630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:27070630G>A	uc001rhk.4	-	8	1463	c.926C>T	c.(925-927)tCg>tTg	p.S309L	ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Missense_Mutation_p.S208L	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	309					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTCTTTAAACGAGCCTTCTCG	0.353000														27			21		0	0	0.002780	0	0
GPR98	84059	broad.mit.edu	37	5	89948162	89948162	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:89948162G>A	uc003kju.3	+	19	3513	c.3417_splice	c.e19-1	p.W1139_splice	GPR98_uc003kjt.3_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1139					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)		TTATTTTGTAGGATTTTGAGG	0.343000														67			29		0	0	0.007291	0	0
SCGN	10590	broad.mit.edu	37	6	25670232	25670232	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:25670232C>T	uc003nfb.3	+	5	602	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SCGN_uc010jpz.3_Missense_Mutation_p.S43F	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	133	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACAGAACTTCCTCCGAGACC	0.398000														236			53		0	0	0.003610	0	0
DPPA4	55211	broad.mit.edu	37	3	109050768	109050768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:109050768C>T	uc003dxq.4	-	2	344	c.289G>A	c.(289-291)Gac>Aac	p.D97N	DPPA4_uc011bho.2_Missense_Mutation_p.D97N|DPPA4_uc011bhp.1_Missense_Mutation_p.D97N	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	97						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CGCAGAATGTCCCGGTGAATC	0.537000														55			9		0	0	0.000978	0	0
GPR98	84059	broad.mit.edu	37	5	89971149	89971149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:89971149G>A	uc003kju.3	+	23	5296	c.5200G>A	c.(5200-5202)Gag>Aag	p.E1734K	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1734					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)		CACTGTGGAGGAGGAAGATGG	0.537000														20			4		0	0	0.000602	0	0
TPO	7173	broad.mit.edu	37	2	1488370	1488370	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:1488370C>T	uc002qwr.3	+	8	1427	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.I447I|TPO_uc002qwx.3_Silent_p.I447I|TPO_uc002qwu.3_Silent_p.I447I|TPO_uc010yio.2_Silent_p.I274I|TPO_uc010yip.2_Silent_p.I447I|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	447			I -> F (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGCACAGATCATCACCCTGA	0.587000														7			11		0	0	0.000978	0	0
MRPS5	64969	broad.mit.edu	37	2	95756221	95756221	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:95756221G>A	uc002sub.3	-	10	1196	c.978C>T	c.(976-978)ctC>ctT	p.L326L	MRPS5_uc002suc.3_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	326					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGATGCCAATGAGCCGGCAGA	0.567000														44			22		0	0	0.002780	0	0
NPY2R	4887	broad.mit.edu	37	4	156135355	156135355	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:156135355C>T	uc003ioq.3	+	1	753	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NPY2R_uc003ior.3_Silent_p.F88F|NPY2R_uc021xtm.1_Silent_p.F88F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	88					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAACTTTTTCATTGCCAATC	0.473000														35			15		0	0	0.002450	0	0
LRP5	4041	broad.mit.edu	37	11	68171002	68171002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:68171002C>T	uc001ont.3	+	7	1711	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	546	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.P546P(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACAAGCTCCCGCACATTTT	0.602000														25			21		0	0	0.007291	0	0
NUP214	8021	broad.mit.edu	37	9	134073038	134073039	+	Missense_Mutation	DNP	CC	TT	TT	rs3739507	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:134073038_134073039CC>TT	uc004cag.3	+	28	4268_4269	c.4157_4158CC>TT	c.(4156-4158)ccc>cTT	p.P1386L	NUP214_uc004cah.3_Missense_Mutation_p.P1376L|NUP214_uc004cai.3_Missense_Mutation_p.P816L|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P212L|NUP214_uc011mcf.1_Missense_Mutation_p.P163L|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1386	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACACGGAGCCCCCTGTGACAT	0.574000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									32			31		0	0	0.004672	0	0
ZFP106	64397	broad.mit.edu	37	15	42743992	42743992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:42743992C>T	uc001zpw.3	-	1	736	c.409G>A	c.(409-411)Gat>Aat	p.D137N	ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_5'UTR|ZFP106_uc001zpy.1_Missense_Mutation_p.D160N	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	137						nucleolus	zinc ion binding	p.D137fs*4(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTAAAGCCATCTTTTTCCCAT	0.488000														37			35		0	0	0.002836	0	0
NAA11	84779	broad.mit.edu	37	4	80246882	80246882	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:80246882C>T	uc003hlt.4	-	0	290	c.150G>A	c.(148-150)ggG>ggA	p.G50G	NAA11_uc021xpl.1_Silent_p.G50G	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	50	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.D49D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CCACAATCTTCCCGTCCTCAT	0.522000														69			16		0	0	0.006122	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370584	86370584	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:86370584G>A	uc001vll.1	-	1	519	c.60C>T	c.(58-60)tcC>tcT	p.S20S	SLITRK6_uc021rla.1_Silent_p.S20S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	20						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)		CTGGAGTTTGGGAGTGTAAAG	0.383000														33			15		0	0	0.002450	0	0
ZNF233	353355	broad.mit.edu	37	19	44777836	44777836	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:44777836C>T	uc021uvi.1	+	4	1129	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Silent_p.L156L|ZNF233_uc002oyz.2_Silent_p.L341L	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GAGAGAACCTCTACAGATGTC	0.507000														17			8		0	0	0.003080	0	0
SMC6	79677	broad.mit.edu	37	2	17877687	17877687	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:17877687A>T	uc002rco.3	-	21	2697	c.2401T>A	c.(2401-2403)Tta>Ata	p.L801I	SMC6_uc010exo.3_Missense_Mutation_p.L801I|SMC6_uc002rcn.3_Missense_Mutation_p.L801I|SMC6_uc002rcp.1_Missense_Mutation_p.L827I	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	801					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCAAGGTTTAATTCATCCTGT	0.313000														23			27		0	0	0.007291	0	0
EBF3	253738	broad.mit.edu	37	10	131671774	131671774	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:131671774C>T	uc021qav.1	-	7	782	c.681G>A	c.(679-681)ggG>ggA	p.G227G	EBF3_uc001lki.2_Silent_p.G241G	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	241					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A227A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGCCCGCCTCCCGTGTTTGG	0.507000														31			20		0	0	0.002299	0	0
SEC24B	10427	broad.mit.edu	37	4	110431225	110431225	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:110431225G>A	uc003hzk.3	+	7	1789	c.1734G>A	c.(1732-1734)aaG>aaA	p.K578K	SEC24B_uc003hzl.3_Silent_p.K543K|SEC24B_uc011cfp.2_Silent_p.K608K|SEC24B_uc011cfq.2_Silent_p.K577K|SEC24B_uc011cfr.2_Silent_p.K542K	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	578					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATAAAGCTAAGCTTCCTTTAG	0.343000														31			18		0	0	0.007413	0	0
DFNB31	25861	broad.mit.edu	37	9	117168646	117168646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:117168646G>A	uc004biy.4	-	8	1716	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	DFNB31_uc004bix.3_Missense_Mutation_p.P391L|DFNB31_uc004biz.4_Missense_Mutation_p.P742L|DFNB31_uc004bja.4_Missense_Mutation_p.P742L	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	742	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGCGTCTGGGGCAGCGCCCT	0.617000														45			21		0	0	0.002780	0	0
EPN2	22905	broad.mit.edu	37	17	19237289	19237289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:19237289C>T	uc002gvd.4	+	10	2096	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	EPN2_uc002gve.4_Missense_Mutation_p.P493S|EPN2_uc002gvf.4_Missense_Mutation_p.P265S|EPN2_uc010vyo.2_Missense_Mutation_p.P258S|EPN2_uc002gvh.1_Intron|EPN2_uc010vyp.2_Missense_Mutation_p.P486S|EPN2_uc010vyq.2_Missense_Mutation_p.P487S|EPN2_uc002gvj.3_Intron	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	550	3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CACCTCGGCCCCTGTTAACCC	0.662000														14			4		0	0	0.000602	0	0
KIF12	113220	broad.mit.edu	37	9	116857371	116857371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:116857371C>T	uc004bif.3	-	7	875	c.637G>A	c.(637-639)Gag>Aag	p.E213K	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	346	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGAGAGTCTCAGGAAGGCAC	0.647000														23			10		0	0	0.006214	0	0
SLIT3	6586	broad.mit.edu	37	5	168222552	168222552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:168222552G>A	uc010jjg.3	-	9	1387	c.967C>T	c.(967-969)Cct>Tct	p.P323S	SLIT3_uc003mab.3_Missense_Mutation_p.P323S|SLIT3_uc010jji.2_Missense_Mutation_p.P323S|SLIT3_uc003mac.1_Missense_Mutation_p.P120S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	323					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.I322I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCCTGCAGGGATGGCTTTG	0.483000														46			18		0	0	0.008871	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049230	23049230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:23049230C>T	uc003xda.3	-	9	1490	c.1384G>A	c.(1384-1386)Ggc>Agc	p.G462S		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	462					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ACGGCAGAGCCTGTGCCATCT	0.423000														16			18		0	0	0.001523	0	0
TACC2	10579	broad.mit.edu	37	10	123843060	123843060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123843060G>A	uc001lfv.3	+	3	1405	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G349S|TACC2_uc010qtv.2_Missense_Mutation_p.G349S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	349						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)				GCTGCCCTGGGGCTTGCCAAG	0.632000														17			15		0	0	0.004990	0	0
HORMAD2	150280	broad.mit.edu	37	22	30494852	30494852	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:30494852C>T	uc003agy.3	+	2	128	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.	21					meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			AAACAGTTTTCCCATCCCAAA	0.338000														64			47		0	0	0.003610	0	0
IGSF9	57549	broad.mit.edu	37	1	159907490	159907490	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159907490T>G	uc001fur.2	-	3	584	c.386A>C	c.(385-387)cAt>cCt	p.H129P	IGSF9_uc001fuq.2_Missense_Mutation_p.H129P	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	129						cell junction|integral to membrane|synapse		p.V128M(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GACTGTCAGATGCACCCAGGA	0.597000														39			24		0	0	0.004656	0	0
FOXF1	2294	broad.mit.edu	37	16	86544757	86544757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:86544757G>A	uc002fjl.3	+	0	625	c.582G>A	c.(580-582)atG>atA	p.M194I	FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	194					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCTGGGCATGATGAACGGCC	0.711000														5			7		0	0	0.001984	0	0
GRIA1	2890	broad.mit.edu	37	5	153149817	153149817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:153149817G>A	uc011dcy.2	+	12	2169	c.2142G>A	c.(2140-2142)atG>atA	p.M714I	GRIA1_uc003lva.4_Missense_Mutation_p.M704I|GRIA1_uc003luy.4_Missense_Mutation_p.M704I|GRIA1_uc003luz.4_Missense_Mutation_p.M609I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.M624I|GRIA1_uc011dcx.2_Missense_Mutation_p.M635I|GRIA1_uc011dcz.2_Missense_Mutation_p.M714I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	704					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGAGGGGATGATTCGAGTGA	0.488000														16			22		0	0	0.001523	0	0
VPS33A	65082	broad.mit.edu	37	12	122735567	122735567	+	Missense_Mutation	SNP	G	A	A	rs150571876		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:122735567G>A	uc001ucd.3	-	4	676	c.563C>T	c.(562-564)aCg>aTg	p.T188M	VPS33A_uc001ucc.3_Intron	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	188					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CTGGGGGATCGTTCCATACAG	0.572000														23			16		0	0	0.004007	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529150	102529150	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:102529150C>T	uc022cbm.1	-	0	342	c.342G>A	c.(340-342)cgG>cgA	p.R114R	TCEAL5_uc004ejz.2_Silent_p.R114R	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 5 (TCEAL5), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTGCTTTCCGGGGCACAT	0.582000														29			22		0	0	0.001882	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143403	61143403	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:61143403C>T	uc002ycy.3	-	4		c.1278G>A			C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens C20orf166 antisense RNA 1 (non-protein coding) (C20orf166-AS1), non-coding RNA.																		ACCCCCTCTCCCTGGCAGCCG	0.642000														16			14		0	0	0.002450	0	0
CASR	846	broad.mit.edu	37	3	122002604	122002604	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:122002604G>A	uc003eew.4	+	6	2271	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	CASR_uc003eev.4_Silent_p.K601K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	601					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)	GCATTGCCAAGGAGATCGAGT	0.517000														32			36		0	0	0.006999	0	0
ZNF622	90441	broad.mit.edu	37	5	16451855	16451855	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:16451855G>A	uc003jfq.3	-	5	1465	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	449						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCATCCTTTGGACATACTGC	0.438000														24			28		0	0	0.006320	0	0
SERPINE2	5270	broad.mit.edu	37	2	224856534	224856534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:224856534G>A	uc010zlr.1	-	3	844	c.707C>T	c.(706-708)tCc>tTc	p.S236F	SERPINE2_uc002vnu.2_Missense_Mutation_p.S224F|SERPINE2_uc002vnv.2_Missense_Mutation_p.S224F	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	224					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCGGAACACGGAGAGCTGGGC	0.527000														15			7		0	0	0.004482	0	0
TAB2	23118	broad.mit.edu	37	6	149699616	149699616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:149699616C>T	uc003qmj.3	+	2	743	c.565C>T	c.(565-567)Cgt>Tgt	p.R189C	TAB2_uc011eec.2_Missense_Mutation_p.R157C|TAB2_uc010kia.1_Missense_Mutation_p.R189C|TAB2_uc010kib.2_Missense_Mutation_p.R189C|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	189					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	p.G188C(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAGACTGGTCGTAATACTCC	0.408000														30			30		0	0	0.008361	0	0
SWAP70	23075	broad.mit.edu	37	11	9746214	9746214	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:9746214C>T	uc001mhw.3	+	3	523	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	SWAP70_uc001mhv.3_Silent_p.L142L|SWAP70_uc001mhx.3_Silent_p.L84L	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	142						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GATTGAATACCTGCTTAAGAA	0.299000														19			9		0	0	0.006214	0	0
MTMR14	64419	broad.mit.edu	37	3	9731824	9731824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:9731824C>T	uc003brz.3	+	16	1761	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L	MTMR14_uc003bsa.3_Missense_Mutation_p.P537L|MTMR14_uc003bsb.3_Intron|MTMR14_uc011ath.2_Intron|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Intron|MTMR14_uc021wss.1_Missense_Mutation_p.P160L	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	537						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTCCCCAAACCCAGGTGAGGA	0.572000														24			10		0	0	0.008291	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792699	65792699	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:65792699C>T	uc001ogt.3	-	0	1290	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	384					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGAGATATCCTGGGTATGGA	0.537000														24			13		0	0	0.001855	0	0
CLASP1	23332	broad.mit.edu	37	2	122217648	122217648	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:122217648G>A	uc002tnc.3	-	11	1476	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Silent_p.F362F|CLASP1_uc010yza.2_Silent_p.F362F|CLASP1_uc021vnl.1_Silent_p.F362F|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Silent_p.F362F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	362					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AATGTTGAAAGAAGTTATCAT	0.403000														38			16		0	0	0.006122	0	0
C19orf45	374877	broad.mit.edu	37	19	7573212	7573212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7573212G>A	uc002mgm.2	+	8	1555	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	472										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						AAATCCTCAGGAGGGCTTCGT	0.612000														16			14		0	0	0.003163	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906440	164906440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:164906440G>A	uc003fej.4	-	1	2623	c.2179C>T	c.(2179-2181)Ctt>Ttt	p.L727F	SLITRK3_uc003fek.3_Missense_Mutation_p.L727F|SLITRK3_uc021xgy.1_Missense_Mutation_p.L727F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	727						integral to membrane		p.T726S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGAGAGGAAAGAGTTGGTCGa	0.567000										HNSCC(40;0.11)				12			19		0	0	0.007413	0	0
CGNL1	84952	broad.mit.edu	37	15	57731401	57731401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:57731401G>A	uc010bfw.3	+	2	1397	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	CGNL1_uc002aeg.3_Missense_Mutation_p.E402K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	402	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGGAACTCGGAGTACCTGAT	0.542000														50			67		0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9364916	9364916	+	Missense_Mutation	SNP	C	T	T	rs78074693		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:9364916C>T	uc021wam.1	+	10	937	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	PLCB4_uc010gbw.1_Missense_Mutation_p.R308C|PLCB4_uc010gbx.3_Missense_Mutation_p.R308C|PLCB4_uc021wal.1_Missense_Mutation_p.R308C|PLCB4_uc002wnh.3_Missense_Mutation_p.R155C	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	308					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTCCTAGATCGTTTAGAACT	0.443000														41			29		0	0	0.001786	0	0
ANK3	288	broad.mit.edu	37	10	61828521	61828521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:61828521C>T	uc001jky.3	-	36	12456	c.12118G>A	c.(12118-12120)Gag>Aag	p.E4040K	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.	4040					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						CGGGAAGTCTCGGACAACGAC	0.488000														76			26		0	0	0.005443	0	0
PTPRU	10076	broad.mit.edu	37	1	29631876	29631876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:29631876G>A	uc001bru.3	+	18	2915	c.2786G>A	c.(2785-2787)cGa>cAa	p.R929Q	PTPRU_uc009vtq.3_Missense_Mutation_p.R919Q|PTPRU_uc009vtr.3_Missense_Mutation_p.R919Q|PTPRU_uc001brw.3_Missense_Mutation_p.R919Q	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	929	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.H928Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GATCGGCACCGAGTGAAACTG	0.567000														14			35		0	0	0.004289	0	0
BCMO1	53630	broad.mit.edu	37	16	81303925	81303925	+	Silent	SNP	C	T	T	rs141341532	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:81303925C>T	uc002fgn.1	+	6	1223	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	BCMO1_uc010vnp.1_Silent_p.F266F	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	335					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCAGCTCTTCTACCTGGCCA	0.577000														24			32		0	0	0.003755	0	0
GTF3C3	9330	broad.mit.edu	37	2	197650231	197650231	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:197650231G>A	uc002uts.3	-	6	1132	c.975C>T	c.(973-975)tcC>tcT	p.S325S	GTF3C3_uc010zgu.2_Silent_p.S325S|GTF3C3_uc002utu.3_Silent_p.S325S|GTF3C3_uc002utt.4_5'UTR	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	325						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATCTTCCATGGAGACTAGGC	0.348000														14			21		0	0	0.001523	0	0
DNAH10	196385	broad.mit.edu	37	12	124285948	124285948	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124285948G>A	uc001uft.4	+	14	2254	c.2229G>A	c.(2227-2229)tcG>tcA	p.S743S	DNAH10_uc010tav.1_Silent_p.S285S|DNAH10_uc010taw.1_Silent_p.S228S	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	743	Stem (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)		TGTTTAGGTCGGGATATAAGA	0.408000														65			14		0	0	0.003163	0	0
SNRPA	6626	broad.mit.edu	37	19	41265428	41265428	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41265428C>T	uc002ooz.3	+	2	894	c.339C>T	c.(337-339)ccC>ccT	p.P113P		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	113						nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGGAAGCCCAAGAGCCAGG	0.627000														30			9		0	0	0.006214	0	0
TAF3	83860	broad.mit.edu	37	10	8051254	8051254	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:8051254C>T	uc010qbd.2	+	4	2529	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	843					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CCAAAGCCCCCGTGCGCAGCG	0.721000														4			4		0	0	0.000248	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364706	43364706	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43364706G>A	uc002iiw.1	-	3	460	c.351C>T	c.(349-351)atC>atT	p.I117I	MAP3K14_uc010daj.1_5'Flank|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	117					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CATTGTTGGGGATCTGATCAA	0.517000														27			5		0	0	0.001984	0	0
ODZ2	57451	broad.mit.edu	37	5	167687292	167687292	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:167687292G>A	uc010jjd.3	+	27	7410	c.7410G>A	c.(7408-7410)gtG>gtA	p.V2470V	ODZ2_uc003lzr.4_Silent_p.V2240V|ODZ2_uc003lzt.4_Silent_p.V1843V|ODZ2_uc010jje.3_Silent_p.V1734V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCATAGATGTGAAAAGCTGGC	0.418000														20			38		0	0	0.007835	0	0
SCUBE1	80274	broad.mit.edu	37	22	43654224	43654224	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:43654224C>T	uc003bdt.2	-	6	854	c.727_splice	c.e6+1	p.E243_splice	SCUBE1_uc003bdu.2_Splice_Site_p.E243_splice	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	243	EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCCTACTTACCGATGCACGT	0.677000														25			13		0	0	0.003163	0	0
OR5D14	219436	broad.mit.edu	37	11	55563485	55563485	+	Missense_Mutation	SNP	C	T	T	rs138241507		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:55563485C>T	uc010rim.2	+	0	454	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGGGTCATATCTCTGGGGCAT	0.498000														10			43		0	0	0.007835	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916248	9916248	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:9916248G>A	uc010uym.2	-	10	2351	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	GRIN2A_uc002czo.4_Nonsense_Mutation_p.R681*|GRIN2A_uc010uyn.2_Nonsense_Mutation_p.R524*|GRIN2A_uc002czr.4_Nonsense_Mutation_p.R681*	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	681					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R681*(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCCAAATCGAAAAGGTGGG	0.448000														35			19		0	0	0.007413	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														33			9		0	0	0.008291	0	0
HSPG2	3339	broad.mit.edu	37	1	22203098	22203098	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:22203098G>A	uc009vqd.3	-	21	2776	c.2736C>T	c.(2734-2736)ttC>ttT	p.F912F	HSPG2_uc001bfj.3_Silent_p.F911F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	911	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TACTCAGGTGGAAAGAGCCGT	0.592000														14			6		0	0	0.001984	0	0
ADAM28	10863	broad.mit.edu	37	8	24170965	24170965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:24170965G>A	uc003xdy.3	+	5	531	c.448G>A	c.(448-450)Gga>Aga	p.G150R	ADAM28_uc003xdx.3_Missense_Mutation_p.G150R|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	150					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)		ACATCGGGATGGACAGGAGCA	0.448000														45			15		0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141143549	141143549	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141143549G>A	uc002tvj.1	-	66	11416	c.10444C>T	c.(10444-10446)Cag>Tag	p.Q3482*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3482	LDL-receptor class A 25.				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)		TTTTTACACTGGAATTCATGA	0.403000										TSP Lung(27;0.18)				35			42		0	0	0.002522	0	0
TRPM1	4308	broad.mit.edu	37	15	31339375	31339375	+	Missense_Mutation	SNP	C	T	T	rs147667317	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:31339375C>T	uc021sia.1	-	13	2068	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	TRPM1_uc010azy.3_Missense_Mutation_p.R453H|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R568H|TRPM1_uc001zfm.3_Missense_Mutation_p.R546H	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	546					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGTTGCAGCGGTAGGCTCC	0.507000														43			36		0	0	0.006999	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54974739	54974740	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:54974739_54974740CC>TT	uc001sgg.2	-	5	669_670	c.498_499GG>AA	c.(496-501)aaggga>aaAAga	p.G167R		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA.	167	Interaction with PPP1R15A.				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						GAGTTGGCTCCCTTGGAATCCA	0.510000														106			45		0	0	0.004672	0	0
POLD2	5425	broad.mit.edu	37	7	44157611	44157611	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:44157611G>C	uc010kxz.3	-	3	923	c.273C>G	c.(271-273)tgC>tgG	p.C91W	POLD2_uc010kya.3_Missense_Mutation_p.C91W|POLD2_uc003tkf.4_Missense_Mutation_p.C91W	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	91					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CCACCACACAGCACTTCTCCT	0.637000														27			14		0	0	0.002450	0	0
BSN	8927	broad.mit.edu	37	3	49699631	49699631	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:49699631G>A	uc003cxe.4	+	5	10467	c.10353G>A	c.(10351-10353)ggG>ggA	p.G3451G		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3451					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CATACAGTGGGGAGAAGCTGT	0.607000														18			20		0	0	0.001882	0	0
UBTD2	92181	broad.mit.edu	37	5	171638903	171638904	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:171638903_171638904GA>AT	uc003mbp.1	-	2	761_762	c.635_636TC>AT	c.(634-636)atc>aAT	p.I212N		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA.	212	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTCCTTTGGGATCTTCAGCTC	0.515000														32			19		0	0	0.004672	0	0
C10orf113	387638	broad.mit.edu	37	10	21435425	21435425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:21435425C>T	uc001iqm.3	-	0	64	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.E5K	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	5										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATTCTTCTTTCACTTTTAGCC	0.383000														23			23		0	0	0.005443	0	0
OR13C4	138804	broad.mit.edu	37	9	107289476	107289476	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:107289476G>A	uc011lvn.2	-	0	15	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N5I(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CAAATGTCTGGTTTATCTTGT	0.368000														39			15		0	0	0.004007	0	0
EVPL	2125	broad.mit.edu	37	17	74003218	74003218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:74003218G>A	uc010wss.1	-	21	6362	c.6134C>T	c.(6133-6135)tCc>tTc	p.S2045F	EVPL_uc002jqi.2_Missense_Mutation_p.S2023F|EVPL_uc010wst.1_Missense_Mutation_p.S1493F	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	2023					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						GGGGGAGGCGGAGCGGTAGCA	0.687000														16			6		0	0	0.001984	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97371115	97371115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:97371115C>T	uc001kkz.3	-	15	2250	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	ALDH18A1_uc001kky.3_Missense_Mutation_p.D668N|ALDH18A1_uc010qog.2_Missense_Mutation_p.D559N|ALDH18A1_uc010qoh.2_Missense_Mutation_p.D458N	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	670	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AATTCCAGGTCCCCATACTCA	0.498000														172			9		0	0	0.008291	0	0
TRPV2	51393	broad.mit.edu	37	17	16340158	16340158	+	Silent	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:16340158C>A	uc002gpy.3	+	14	2649	c.2250C>A	c.(2248-2250)gcC>gcA	p.A750A	TRPV2_uc002gpz.3_Silent_p.A320A|C17orf76-AS1_uc021tqt.1_5'Flank|C17orf76-AS1_uc021tqu.1_5'Flank|C17orf76-AS1_uc010vwf.2_5'Flank|C17orf76-AS1_uc021tqv.1_5'Flank|C17orf76-AS1_uc021tqw.1_5'Flank|C17orf76-AS1_uc002gqb.4_5'Flank|C17orf76-AS1_uc010vwk.2_5'Flank|C17orf76-AS1_uc010vwh.2_5'Flank|C17orf76-AS1_uc021tqx.1_5'Flank|C17orf76-AS1_uc010vwi.2_5'Flank|C17orf76-AS1_uc010cpd.3_5'Flank|C17orf76-AS1_uc021tqy.1_5'Flank|C17orf76-AS1_uc002gqc.3_5'Flank|C17orf76-AS1_uc021tqz.1_5'Flank|C17orf76-AS1_uc010vwg.2_5'Flank|C17orf76-AS1_uc010vwj.2_5'Flank|C17orf76-AS1_uc002gqa.4_5'Flank|C17orf76-AS1_uc010vwo.1_5'Flank|C17orf76-AS1_uc010vwp.1_5'Flank|C17orf76-AS1_uc010vwl.1_5'Flank|C17orf76-AS1_uc010vwm.1_5'Flank|C17orf76-AS1_uc010vwn.1_5'Flank|C17orf76-AS1_uc021tra.1_5'Flank|C17orf76-AS1_uc021trb.1_5'Flank|C17orf76-AS1_uc021trc.1_5'Flank|C17orf76-AS1_uc010cpe.2_5'Flank|SNORD49B_uc010cpf.3_5'Flank	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	750					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGGATGGTGCCTCTGAGGAAA	0.552000														31			28		2.49534e-26	3.46723e-26	0.002096	1	0
HRH3	11255	broad.mit.edu	37	20	60791352	60791352	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:60791352G>C	uc002yci.3	-	2	1345	c.1048C>G	c.(1048-1050)Ctg>Gtg	p.L350V	HRH3_uc002ycf.2_Missense_Mutation_p.L350V|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	350					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TCCCGAGACAGCCGAAAGCGC	0.642000														9			7		0	0	0.001984	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469535	35469535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:35469535G>A	uc021wir.1	+	0	2038	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	SLC5A3_uc002yto.3_Missense_Mutation_p.E680K|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	680						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCTGATGGAAGAGGAGGCTGT	0.413000														234			234		0	0	0.003610	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626282	140626282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140626282G>A	uc003lje.3	+	0	1136	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	379	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGAAAATGGAAAAATGATT	0.438000														17			10		0	0	0.008291	0	0
TACC2	10579	broad.mit.edu	37	10	123845920	123845921	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123845920_123845921GG>AA	uc001lfv.3	+	3	4265_4266	c.3905_3906GG>AA	c.(3904-3906)ggg>gAA	p.G1302E	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G1302E|TACC2_uc010qtv.2_Missense_Mutation_p.G1302E	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1302						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)				GCTGCAGGTGGGGAAATCCCTG	0.604000														9			6		0	0	0.004672	0	0
MYT1L	23040	broad.mit.edu	37	2	1983500	1983500	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:1983500A>G	uc002qxe.3	-	5	877	c.50T>C	c.(49-51)gTt>gCt	p.V17A	MYT1L_uc002qxd.3_Missense_Mutation_p.V17A|MYT1L_uc002qxf.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	17					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G16G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATACCTCGAACCCCTTTGGA	0.592000														7			5		0	0	0.000602	0	0
DNAH3	55567	broad.mit.edu	37	16	21098222	21098222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:21098222G>A	uc010vbe.2	-	18	2825	c.2825C>T	c.(2824-2826)cCc>cTc	p.P942L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	942	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)		ACTGAGGATGGGAATGTACTG	0.512000														160			41		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13752267	13752267	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:13752267G>A	uc003jfd.2	-	63	11046	c.11004C>T	c.(11002-11004)ttC>ttT	p.F3668F	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3668	AAA 5 (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)					CAGTTTTAATGAAGTTTCTTT	0.408000									Kartagener syndrome					18			30		0	0	0.002445	0	0
GTPBP5	26164	broad.mit.edu	37	20	60772927	60772927	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:60772927C>T	uc002yce.4	+	3	410	c.372C>T	c.(370-372)tcC>tcT	p.S124S	GTPBP5_uc011aaf.2_Intron|GTPBP5_uc011aab.2_5'UTR|GTPBP5_uc011aac.2_5'UTR|GTPBP5_uc011aad.2_Intron|GTPBP5_uc011aae.2_Intron	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	124	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			AAGTCAAGTCCCTGTCGTCGG	0.527000														37			22		0	0	0.003330	0	0
CD19	930	broad.mit.edu	37	16	28948809	28948809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:28948809C>T	uc010byo.2	+	9	1399	c.1337C>T	c.(1336-1338)cCc>cTc	p.P446L	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P446L	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	446					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GAGGATGAGCCCCTGGGTCCT	0.607000														35			28		0	0	0.001786	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159652	18159652	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:18159652G>A	uc021qek.1	+	0	903	c.903G>A	c.(901-903)gtG>gtA	p.V301V	MRGPRX3_uc001mnu.3_Silent_p.V301V	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	301						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGCCTGAGGTGGATGAAGGTG	0.552000														53			12		0	0	0.001368	0	0
PCK1	5105	broad.mit.edu	37	20	56137213	56137213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:56137213C>T	uc002xyn.4	+	2	474	c.311C>T	c.(310-312)cCc>cTc	p.P104L	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	104					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GACACAGTGCCCATCCCCAAA	0.542000														23			23		0	0	0.002299	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925581	54925581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:54925581G>A	uc001sgc.4	+	24	2832	c.2753G>A	c.(2752-2754)aGg>aAg	p.R918K	NCKAP1L_uc010sox.2_Missense_Mutation_p.R460K|NCKAP1L_uc010soy.2_Missense_Mutation_p.R868K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	918					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCAGTTTCAGGGCCATGGCC	0.483000														24			12		0	0	0.002450	0	0
POF1B	79983	broad.mit.edu	37	X	84606427	84606427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:84606427G>A	uc004eer.2	-	4	615	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	POF1B_uc004ees.3_Missense_Mutation_p.H157Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	157							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGGAAGAAATGGCTTCCTCTT	0.289000														20			19		0	0	0.008871	0	0
DNAH17	8632	broad.mit.edu	37	17	76455235	76455235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:76455235C>T	uc010dhp.2	-	60	9834	c.9709G>A	c.(9709-9711)Gcc>Acc	p.A3237T	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.C3237Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGGCGGCGGCCGTGGACTTG	0.652000														224			47		0	0	0.003610	0	0
A4GALT	53947	broad.mit.edu	37	22	43089082	43089082	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:43089082C>T	uc003bdb.3	-	2	1137	c.876G>A	c.(874-876)tgG>tgA	p.W292*	A4GALT_uc021wqo.1_Nonsense_Mutation_p.W292*|A4GALT_uc021wqp.1_Nonsense_Mutation_p.W292*|A4GALT_uc010gzd.3_Nonsense_Mutation_p.W292*|A4GALT_uc021wqq.1_Nonsense_Mutation_p.W292*	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	292					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTACTTCTTCCAGTCCTGCC	0.647000														11			5		0	0	0.000602	0	0
ODZ1	10178	broad.mit.edu	37	X	123630927	123630927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:123630927C>T	uc010nqy.3	-	19	3698	c.3634G>A	c.(3634-3636)Gac>Aac	p.D1212N	ODZ1_uc011muj.2_Missense_Mutation_p.D1211N|ODZ1_uc004euj.3_Missense_Mutation_p.D1212N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1212					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AAATTGAAGTCGCCAACATAC	0.443000														17			22		0	0	0.002780	0	0
HHIPL1	84439	broad.mit.edu	37	14	100126723	100126723	+	Silent	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:100126723T>A	uc010avs.3	+	4	1547	c.1482T>A	c.(1480-1482)atT>atA	p.I494I	HHIPL1_uc001ygl.1_Silent_p.I494I	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	494					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCCTCTACATTTTTGGGGATT	0.602000														30			34		0	0	0.008740	0	0
MAML2	84441	broad.mit.edu	37	11	95826426	95826426	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:95826426G>A	uc001pfw.1	-	1	2054	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	257					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATGTTAAACAGGCCATTGCCA	0.478000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									29			11		0	0	0.008291	0	0
GDA	9615	broad.mit.edu	37	9	74838040	74838040	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:74838040C>A	uc004air.3	+	6	820	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	GDA_uc011lse.2_Missense_Mutation_p.S130Y|GDA_uc004aiq.3_Missense_Mutation_p.S204Y|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.S130Y|GDA_uc004ais.3_Intron|GDA_uc004ait.1_Missense_Mutation_p.S130Y	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	204					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTCCAGTATTCTAGAGTGAAG	0.368000														47			28		4.40665e-25	6.12011e-25	0.001786	1	0
SPPL2C	162540	broad.mit.edu	37	17	43923981	43923981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43923981G>A	uc010wka.2	+	0	1726	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	570						integral to membrane	aspartic-type endopeptidase activity										CGAGGAGCAGGGGACTTAGAC	0.592000														18			24		0	0	0.002780	0	0
HENMT1	113802	broad.mit.edu	37	1	109191228	109191228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:109191228G>A	uc001dvt.4	-	7	1380	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	HENMT1_uc001dvu.4_Missense_Mutation_p.A381V|HENMT1_uc009wer.3_3'UTR	NM_001102592	NP_653185	Q5T8I9	HENMT_HUMAN	Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA.	381					gene silencing by RNA|piRNA metabolic process	P granule	O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						ACGCAGGTCAGCCACCACTGC	0.413000														5			11		0	0	0.000978	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306098	179306098	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:179306098G>A	uc003mlh.3	-	8	1551	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L	TBC1D9B_uc003mli.3_Silent_p.L506L|TBC1D9B_uc003mlj.3_Silent_p.L506L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	506						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACCCTTCAGGACCAGTGCC	0.627000														11			12		0	0	0.000978	0	0
INO80	54617	broad.mit.edu	37	15	41348837	41348837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:41348837G>A	uc001zni.3	-	16	2266	c.2053C>T	c.(2053-2055)Cag>Tag	p.Q685*	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	685	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATGGTGTTCTGAATTGGGGTC	0.423000														113			87		0	0	0.003610	0	0
C6orf72	116254	broad.mit.edu	37	6	149901049	149901049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:149901049C>T	uc003qmq.1	+	4	532	c.509C>T	c.(508-510)cCt>cTt	p.P170L	C6orf72_uc010kie.1_Missense_Mutation_p.P50L	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	Homo sapiens chromosome 6 open reading frame 72 (C6orf72), mRNA.	170						integral to membrane				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		TATACCCTCCCTTTGGAAGAA	0.348000														48			50		0	0	0.003610	0	0
RASA2	5922	broad.mit.edu	37	3	141328325	141328326	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:141328325_141328326CC>TT	uc010huq.1	+	22	2301_2302	c.2301_2302CC>TT	c.(2299-2304)tccctt>tcTTtt	p.L768F	RASA2_uc003etz.1_Missense_Mutation_p.L764F|RASA2_uc003eua.1_Missense_Mutation_p.L765F	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	764					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GAATTTATTCCCTTTTTACCCT	0.292000														65			15		0	0	0.004672	0	0
LOC729862	729862	broad.mit.edu	37	5	28927058	28927058	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:28927058G>A	uc003jgz.1	+	0		c.82G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		GTCCTGCAAGGATATTGTGGC	0.562000														6			7		0	0	0.001984	0	0
PHKA1	5255	broad.mit.edu	37	X	71925051	71925051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:71925051C>T	uc004eax.4	-	2	582	c.281G>A	c.(280-282)aGa>aAa	p.R94K	PHKA1_uc004eay.4_Missense_Mutation_p.R94K|PHKA1_uc011mqi.2_Missense_Mutation_p.R94K	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	94					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCATACCTGTCTGATCATGCA	0.363000														16			20		0	0	0.002780	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743840	26743840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:26743840G>A	uc003acb.3	+	10	2564	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	SEZ6L_uc003acd.3_Missense_Mutation_p.D790N|SEZ6L_uc011akd.2_Missense_Mutation_p.D790N|SEZ6L_uc003ace.3_Missense_Mutation_p.D790N|SEZ6L_uc011akc.2_Missense_Mutation_p.D790N|SEZ6L_uc003acc.3_Missense_Mutation_p.D790N|SEZ6L_uc003acf.1_Missense_Mutation_p.D563N|SEZ6L_uc010gvc.1_Missense_Mutation_p.D563N|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	790	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCCAGTGGGACCTCAGCTG	0.562000														46			18		0	0	0.002780	0	0
HECW2	57520	broad.mit.edu	37	2	197185126	197185126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:197185126G>A	uc002utm.1	-	7	1105	c.922C>T	c.(922-924)Cca>Tca	p.P308S	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	308					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						TGGTCAGCTGGGAGCCTTCTG	0.453000														5			11		0	0	0.001368	0	0
OR56A1	120796	broad.mit.edu	37	11	6048031	6048031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:6048031G>A	uc010qzw.2	-	0	941	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTTGGTCCGAACCCCATAC	0.448000														34			30		0	0	0.001786	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725567	3725568	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:3725567_3725568CC>TT	uc002wjd.3	+	4	427_428	c.285_286CC>TT	c.(283-288)gacccg>gaTTcg	p.P96S	HSPA12B_uc010zqj.2_5'UTR|HSPA12B_uc010zqi.2_Missense_Mutation_p.P96S|HSPA12B_uc002wje.3_Missense_Mutation_p.P9S	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	96							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AGGGCGGAGACCCGGGCGTGGC	0.624000														28			13		0	0	0.004672	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29487477	29487477	+	Silent	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:29487477A>T	uc002kxc.4	-	8	1699	c.1335T>A	c.(1333-1335)acT>acA	p.T445T	TRAPPC8_uc002kxb.4_Silent_p.T391T|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Silent_p.T445T|TRAPPC8_uc002kxe.2_Silent_p.T445T	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	445					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTCTTTGCAGTATGATAGC	0.378000														31			10		0	0	0.008291	0	0
C1orf127	148345	broad.mit.edu	37	1	11008258	11008258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:11008258G>A	uc010oao.2	-	11	1934	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	C1orf127_uc001ars.2_Missense_Mutation_p.S480F|C1orf127_uc001arr.2_Missense_Mutation_p.S488F	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	496										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGTTCTGAGGATGAAAGGTC	0.647000														16			12		0	0	0.001855	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660862	233660862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:233660862G>A	uc002vtj.4	+	15	1900	c.1633G>A	c.(1633-1635)Gtg>Atg	p.V545M	GIGYF2_uc010zmj.1_Missense_Mutation_p.V524M|GIGYF2_uc002vtg.2_Missense_Mutation_p.V518M|GIGYF2_uc002vti.4_Missense_Mutation_p.V524M|GIGYF2_uc002vtk.4_Missense_Mutation_p.V524M|GIGYF2_uc002vth.4_Missense_Mutation_p.V518M|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.V355M	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	524	GYF.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCTAAAGGAGTGTCGATTCC	0.408000														44			10		0	0	0.000978	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203729	5203729	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:5203729C>T	uc009xhz.2	-	4		c.462_splice	c.e4-1							Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCAGGAAGAACCCTGGAAACC	0.393000														35			21		0	0	0.003330	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675732	31675732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:31675732C>T	uc003nwb.1	+	2	467	c.467C>T	c.(466-468)tCt>tTt	p.S156F	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.S156F	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	156						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CGCATGGACTCTGTGACCTGG	0.622000														226			70		0	0	0.003610	0	0
GZMA	3001	broad.mit.edu	37	5	54405901	54405901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:54405901C>T	uc003jpm.3	+	4	717	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	227	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGGGTCACTTCCTTTGGCCTT	0.483000														37			16		0	0	0.004007	0	0
CDH18	1016	broad.mit.edu	37	5	19483414	19483414	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:19483414G>A	uc003jgd.3	-	11	2412	c.1878C>T	c.(1876-1878)ctC>ctT	p.L626L	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Silent_p.L626L|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	626					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACTTACCCAGGAGAATGAGAA	0.463000														21			30		0	0	0.002096	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137106	126137106	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:126137106G>A	uc001uhe.1	+	7	2027	c.2019G>A	c.(2017-2019)caG>caA	p.Q673Q	TMEM132B_uc001uhf.1_Silent_p.Q185Q	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	673						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTCCCTGCAGCCACACCGAG	0.607000														25			21		0	0	0.002780	0	0
TTC7A	57217	broad.mit.edu	37	2	47206012	47206012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:47206012C>T	uc010fbb.3	+	4	1098	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	TTC7A_uc002rvm.3_Missense_Mutation_p.L210F|TTC7A_uc002rvn.1_Missense_Mutation_p.L125F|TTC7A_uc002rvo.3_Missense_Mutation_p.L244F|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Missense_Mutation_p.L125F|TTC7A_uc002rvq.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	244							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)			GGAAGCTGCCCTCCAGAGCGC	0.537000														19			9		0	0	0.001855	0	0
BAGE	574	broad.mit.edu	37	21	11097569	11097569	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:11097569C>T	uc002yiu.1	-	1	293	c.93G>A	c.(91-93)ttG>ttA	p.L31L	BAGE_uc002yit.1_Silent_p.L31L|BAGE_uc002yiv.1_Silent_p.L31L|BAGE_uc002yix.2_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	31						extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTcaggctccaacctccagc	0.542000														46			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179456883	179456883	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179456883C>A	uc021vsy.1	-	250	52269	c.52044G>T	c.(52042-52044)agG>agT	p.R17348S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11043S|TTN_uc021vta.1_Missense_Mutation_p.R10976S|TTN_uc021vtb.1_Missense_Mutation_p.R10851S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18275	Fibronectin type-III 26.						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)			CAACATCTCTCCTCTCAACCA	0.438000														16			9		1.12685e-05	1.54717e-05	0.004482	1	0
GPS1	2873	broad.mit.edu	37	17	80013902	80013902	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80013902T>C	uc002kdk.1	+	7	1400	c.980T>C	c.(979-981)aTc>aCc	p.I327T	GPS1_uc002kdl.1_Missense_Mutation_p.I291T|GPS1_uc010dij.1_Missense_Mutation_p.I326T|GPS1_uc002kdm.1_Missense_Mutation_p.I271T|GPS1_uc002kdn.1_Missense_Mutation_p.I287T|GPS1_uc010wvh.1_Missense_Mutation_p.I283T	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	291	PCI.				JNK cascade|cell cycle|cullin deneddylation|inactivation of MAPK activity	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AACGTGGCCATCTACGGTGGC	0.662000														12			7		0	0	0.003080	0	0
COL17A1	1308	broad.mit.edu	37	10	105824312	105824312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:105824312G>A	uc001kxr.3	-	9	819	c.650C>T	c.(649-651)cCc>cTc	p.P217L	COL17A1_uc010qqv.1_Missense_Mutation_p.P201L|COL17A1_uc009xxp.1_Missense_Mutation_p.P217L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	217	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CACATGGGAGGGAAGGTTGGC	0.572000														6			7		0	0	0.001984	0	0
FAM135B	51059	broad.mit.edu	37	8	139165086	139165086	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:139165086C>T	uc003yuy.3	-	12	1803	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	FAM135B_uc003yux.3_Silent_p.E445E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.E106E|FAM135B_uc003yvb.3_Silent_p.E106E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	544										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGTCCATCCTCTGGACCTG	0.512000										HNSCC(54;0.14)				26			27		0	0	0.005443	0	0
NPAS4	266743	broad.mit.edu	37	11	66189691	66189691	+	Silent	SNP	G	A	A	rs147825645	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66189691G>A	uc001ohx.1	+	1	452	c.276G>A	c.(274-276)ggG>ggA	p.G92G	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	92	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGCCGAGGGGAAATTGCTCT	0.602000														45			10		0	0	0.008291	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351178	134351178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:134351178C>T	uc004can.4	+	14	3717	c.3662C>T	c.(3661-3663)tCc>tTc	p.S1221F	PRRC2B_uc010mzj.1_Missense_Mutation_p.S804F|PRRC2B_uc004cao.4_Missense_Mutation_p.S579F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1221							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACCTTCGTCTCCAAAGAGTCA	0.617000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			8		0	0	0.004482	0	0
ARNTL2	56938	broad.mit.edu	37	12	27521335	27521335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:27521335G>A	uc001rht.2	+	1	391	c.172G>A	c.(172-174)Gac>Aac	p.D58N	ARNTL2_uc001rhu.2_Missense_Mutation_p.D58N|ARNTL2_uc001rhv.2_Missense_Mutation_p.D58N|ARNTL2_uc001rhw.3_Missense_Mutation_p.D69N|ARNTL2_uc010sjp.2_Missense_Mutation_p.D69N|ARNTL2_uc009zji.2_Missense_Mutation_p.D58N	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	58					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAGTGATTCAGACCCATCCCA	0.433000														34			32		0	0	0.003271	0	0
FCGBP	8857	broad.mit.edu	37	19	40363276	40363276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40363276C>T	uc002omp.4	-	31	14802	c.14794G>A	c.(14794-14796)Gag>Aag	p.E4932K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4932	VWFD 12.					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)			GCCACAGCCTCGCCGTCCACG	0.652000														5			4		0	0	0.000248	0	0
THSD7B	80731	broad.mit.edu	37	2	137872762	137872762	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:137872762A>G	uc002tva.1	+	3	1175	c.1175A>G	c.(1174-1176)cAc>cGc	p.H392R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.H282R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.G392V(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGATCCCCACTGGCATGTG	0.547000														23			4		0	0	0.000602	0	0
LLGL2	3993	broad.mit.edu	37	17	73559887	73559887	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73559887G>A	uc002joh.3	+	9	1035	c.881_splice	c.e9+1	p.G294_splice	LLGL2_uc002jog.1_Splice_Site_p.G294_splice|LLGL2_uc010dgf.1_Splice_Site_p.G294_splice|LLGL2_uc002joi.3_Splice_Site_p.G294_splice|LLGL2_uc010dgg.2_Splice_Site_p.G294_splice|LLGL2_uc002joj.3_Splice_Site_p.G283_splice|LLGL2_uc010wsd.2_Splice_Site|AF289551_uc002jok.3_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	294					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACTAGGCAGGGGTAGGTATCC	0.532000														62			16		0	0	0.004007	0	0
PLCB4	5332	broad.mit.edu	37	20	9365010	9365010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:9365010G>A	uc021wam.1	+	10	1031	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	PLCB4_uc010gbw.1_Missense_Mutation_p.G339E|PLCB4_uc010gbx.3_Missense_Mutation_p.G339E|PLCB4_uc021wal.1_Missense_Mutation_p.G339E|PLCB4_uc002wnh.3_Missense_Mutation_p.G186E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	339	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGTTCGGCGGGAAGTCTTCG	0.453000														48			17		0	0	0.008871	0	0
ATP2C2	9914	broad.mit.edu	37	16	84482226	84482226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:84482226C>T	uc010chj.3	+	16	1680	c.1591C>T	c.(1591-1593)Ccg>Tcg	p.P531S	ATP2C2_uc002fhx.3_Missense_Mutation_p.P531S|ATP2C2_uc002fhy.3_Missense_Mutation_p.P548S|ATP2C2_uc002fhz.3_Missense_Mutation_p.P380S	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	531					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CATCCCCCTGCCGCTGACGCC	0.572000														35			23		0	0	0.003330	0	0
RGPD3	653489	broad.mit.edu	37	2	107050824	107050824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:107050824G>A	uc010ywi.1	-	14	2122	c.2065C>T	c.(2065-2067)Cac>Tac	p.H689Y		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	689					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCTTCCTGTGAAAAATCTAT	0.383000														36			51		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158614043	158614043	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158614043C>T	uc001fst.1	-	30	4537	c.4338_splice	c.e30+1	p.Q1446_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1446					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)					TCATTATTACCTGGGCAGTGA	0.348000														21			24		0	0	0.003954	0	0
ICA1L	130026	broad.mit.edu	37	2	203693696	203693696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:203693696G>A	uc002uzh.1	-	2	201	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	ICA1L_uc002uzi.1_Nonsense_Mutation_p.Q13*|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Nonsense_Mutation_p.Q13*|ICA1L_uc002uzk.1_Nonsense_Mutation_p.Q13*	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	13										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTACTGACTGATTATCTTCT	0.378000														124			220		0	0	0.003610	0	0
NACA2	342538	broad.mit.edu	37	17	59667908	59667908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:59667908C>T	uc002izj.2	-	0	656	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	212	UBA.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					ACTGTTAATTCCATAATCGCA	0.363000														184			38		0	0	0.002222	0	0
OR6C65	403282	broad.mit.edu	37	12	55795197	55795197	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55795197G>A	uc010spl.2	+	0	885	c.885G>A	c.(883-885)gtG>gtA	p.V295V		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACCAGCAGGTGAAACAGGCCC	0.358000														25			13		0	0	0.001855	0	0
MADCAM1	8174	broad.mit.edu	37	19	498503	498503	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:498503G>A	uc002los.3	+	2	355	c.345G>A	c.(343-345)ccG>ccA	p.P115P	MADCAM1_uc002lot.3_Silent_p.P115P|MADCAM1_uc010drq.3_Silent_p.P20P	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	115	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		CAGCCTTCCCGGACCAGCTGA	0.706000														13			10		0	0	0.001368	0	0
KRIT1	889	broad.mit.edu	37	7	91852253	91852253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:91852253G>A	uc003ulr.1	-	12	2186	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	KRIT1_uc010lev.1_Missense_Mutation_p.R189C|KRIT1_uc003ulq.1_Missense_Mutation_p.R432C|KRIT1_uc003uls.1_Missense_Mutation_p.R432C|KRIT1_uc003ult.1_Missense_Mutation_p.R384C|KRIT1_uc003ulu.1_Missense_Mutation_p.R432C|KRIT1_uc003ulv.1_Missense_Mutation_p.R432C	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	432	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAACAGAACGATATGACCCA	0.338000														21			18		0	0	0.002299	0	0
MYLK3	91807	broad.mit.edu	37	16	46763013	46763013	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:46763013G>A	uc002eei.4	-	6	1811	c.1695C>T	c.(1693-1695)aaC>aaT	p.N565N	MYLK3_uc010vge.2_Silent_p.N224N|MYLK3_uc002eej.1_Silent_p.N224N	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	565	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCTGAGCTGGTTCATGATGT	0.552000														42			33		0	0	0.004289	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604120	111604120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:111604120G>A	uc010hqa.3	+	1	1607	c.1196G>A	c.(1195-1197)aGa>aAa	p.R399K	PHLDB2_uc003dyc.3_Missense_Mutation_p.R426K|PHLDB2_uc003dyd.3_Missense_Mutation_p.R399K|PHLDB2_uc003dyg.3_Missense_Mutation_p.R399K|PHLDB2_uc003dyh.3_Missense_Mutation_p.R399K|PHLDB2_uc003dye.4_Missense_Mutation_p.R399K|PHLDB2_uc003dyf.4_Missense_Mutation_p.R399K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	399						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAAAGCCTCAGACAGGCCTCA	0.517000														40			39		0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179592543	179592543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179592543C>T	uc021vsy.1	-	64	16255	c.16030G>A	c.(16030-16032)Gat>Aat	p.D5344N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2005N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6271	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D5344H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTAGAATCAGGTATGGCT	0.348000														45			14		0	0	0.002450	0	0
AXL	558	broad.mit.edu	37	19	41765666	41765667	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41765666_41765667CC>TT	uc010ehj.3	+	19	2732_2733	c.2542_2543CC>TT	c.(2542-2544)cct>TTt	p.P848F	HNRNPUL1_uc002opz.4_5'Flank|HNRNPUL1_uc002oqa.4_5'Flank|AXL_uc010ehk.3_Missense_Mutation_p.P839F|HNRNPUL1_uc010ehl.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	848						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCAGCCAGACCCTAAGGATTCC	0.599000														8			26		0	0	0.004672	0	0
C14orf39	317761	broad.mit.edu	37	14	60928270	60928270	+	Silent	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:60928270T>G	uc001xez.4	-	11	1124	c.1014A>C	c.(1012-1014)tcA>tcC	p.S338S	C14orf39_uc010apo.3_Silent_p.S49S	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	338										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCGTAATATGTGAACATTTTG	0.279000														27			17		0	0	0.007413	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000														24			8		0	0	0.001523	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18829843	18829843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:18829843C>T	uc003zne.4	+	22	4269	c.4117C>T	c.(4117-4119)Ccc>Tcc	p.P1373S	ADAMTSL1_uc003znf.4_Missense_Mutation_p.P74S	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1373						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCACAGATCCCCCCCAAGT	0.567000														3			23		0	0	0.007291	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672558	44672558	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:44672558C>T	uc010zxl.1	+	10	1525	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V460V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	483					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGAGGGGGTCGTCCTGCGGG	0.557000														26			34		0	0	0.005524	0	0
LACE1	246269	broad.mit.edu	37	6	108676932	108676932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:108676932C>T	uc003psj.3	+	3	676	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	164							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		GGTTCATTTTCATGGTTTCAT	0.318000														31			10		0	0	0.008291	0	0
MARK2	2011	broad.mit.edu	37	11	63667508	63667508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:63667508G>A	uc001nxw.3	+	7	1273	c.694G>A	c.(694-696)Gat>Aat	p.D232N	MARK2_uc001nxv.4_Missense_Mutation_p.D232N|MARK2_uc001nxx.3_Missense_Mutation_p.D232N|MARK2_uc001nxy.3_Missense_Mutation_p.D232N|MARK2_uc001nxz.4_Missense_Mutation_p.D199N|MARK2_uc009yoy.3_Missense_Mutation_p.D199N	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	232	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ACCCGAGGTGGATGTGTGGAG	0.498000														61			40		0	0	0.006230	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432718	140432718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140432718G>A	uc003lik.1	+	0	1740	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	555	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCCTAGATGACAATGACAA	0.493000														33			15		0	0	0.002450	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280645	105280645	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:105280645G>A	uc010npd.3	-	0	640	c.405C>T	c.(403-405)ttC>ttT	p.F135F	SERPINA7_uc004eme.2_Silent_p.F135F|SERPINA7_uc010npe.2_Silent_p.F135F	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	135					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTTGCCAATGAAGAGGGCAT	0.438000														5			70		0	0	0.003610	0	0
LOC442132	442132	broad.mit.edu	37	5	7303927	7303927	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:7303927G>A	uc003jdy.2	-	4		c.427C>T								Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		CGTATGGTATGATCCTGGGCC	0.493000														10			5		0	0	0.000602	0	0
TAAR9	134860	broad.mit.edu	37	6	132859486	132859486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:132859486G>A	uc011eci.2	+	0	60	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	20						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GAACGTGAACGAATCCTGCAT	0.458000														14			12		0	0	0.004007	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344403	38344403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38344403C>T	uc010qev.2	+	3	1473	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	ZNF33A_uc001izg.3_Missense_Mutation_p.R451C|ZNF33A_uc001izh.3_Missense_Mutation_p.R450C|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.R451C	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAAATCCTTCCGTGTGACTTC	0.413000														30			17		0	0	0.001523	0	0
COL8A1	1295	broad.mit.edu	37	3	99513179	99513179	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:99513179T>A	uc003dti.1	+	2	565	c.437T>A	c.(436-438)aTt>aAt	p.I146N	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.I145N|COL8A1_uc003dth.1_Missense_Mutation_p.I145N	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	145	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATACCTGGAATTAAAGGAAAA	0.582000														10			8		0	0	0.003080	0	0
TCL1A	8115	broad.mit.edu	37	14	96180341	96180341	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:96180341C>T	uc001yfc.4	-	0	193	c.63G>A	c.(61-63)tgG>tgA	p.W21*	BX247990_uc001yfd.1_5'Flank|TCL1A_uc001yfb.4_Nonsense_Mutation_p.W21*	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	21					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGAACTTCTCCCAGGCCCACA	0.657000			T	TRA@	T-CLL									50			29		0	0	0.001786	0	0
POTEF	728378	broad.mit.edu	37	2	130832640	130832640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:130832640G>A	uc010fmh.2	-	16	2805	c.2405C>T	c.(2404-2406)cCc>cTc	p.P802L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	802	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGCAGGACGGGGTGCTCCTC	0.582000														46			19		0	0	0.001523	0	0
FGA	2243	broad.mit.edu	37	4	155507389	155507389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:155507389G>A	uc003iod.1	-	4	1250	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	FGA_uc003ioe.1_Missense_Mutation_p.P398S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	398					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGAGCCTGGGCTATCTGGC	0.532000														67			43		0	0	0.008740	0	0
GPR112	139378	broad.mit.edu	37	X	135432542	135432542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:135432542C>T	uc004ezu.1	+	5	6968	c.6677C>T	c.(6676-6678)tCc>tTc	p.S2226F	GPR112_uc010nsb.1_Missense_Mutation_p.S2021F|GPR112_uc010nsc.1_Missense_Mutation_p.S1993F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2226					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCACACCTTCCTTTCTATCT	0.463000														1			46		0	0	0.003610	0	0
ZDHHC14	79683	broad.mit.edu	37	6	157963677	157963677	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:157963677C>T	uc003qqt.3	+	1	803	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ZDHHC14_uc003qqs.3_Silent_p.F102F|ZDHHC14_uc010kjm.1_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	102						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCATCCTGTTCTTCTTTGTGA	0.602000														47			16		0	0	0.008871	0	0
PITRM1	10531	broad.mit.edu	37	10	3180261	3180261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:3180261G>A	uc009xhv.2	-	26	3148	c.3079C>T	c.(3079-3081)Ccg>Tcg	p.P1027S	PITRM1_uc001igr.2_3'UTR|PITRM1_uc001igt.2_Missense_Mutation_p.P1026S|PITRM1_uc010qah.2_Missense_Mutation_p.P928S	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	928					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GCAATTTTCGGGTTCTCGGGT	0.587000														3			3		0	0	0.004672	0	0
EIF2C1	26523	broad.mit.edu	37	1	36379561	36379561	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:36379561C>T	uc001bzl.3	+	12	1914	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	EIF2C1_uc001bzk.3_Silent_p.V492V|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	567	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGATCAATGTCAAACTTGGTG	0.493000														49			12		0	0	0.000978	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010672	173010672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:173010672C>T	uc001giu.2	-	2	436	c.435G>A	c.(433-435)atG>atA	p.M145I		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	145					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GAGTTTGTATCATGTCTTTGT	0.373000														65			17		0	0	0.004990	0	0
LFNG	3955	broad.mit.edu	37	7	2565153	2565154	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:2565153_2565154CC>TT	uc003smf.3	+	3	704_705	c.687_688CC>TT	c.(685-690)agcctg>agTTtg	p.229_230SL>SL	LFNG_uc021zyw.1_Silent_p.158_159SL>SL|LFNG_uc021zyx.1_Silent_p.100_101SL>SL|LFNG_uc003smg.3_Silent_p.229_230SL>SL|MIR4648_uc021zyy.1_5'Flank	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	229					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCAAGCCCAGCCTGGACAGGCC	0.688000														7			5		0	0	0.004672	0	0
MYH1	4619	broad.mit.edu	37	17	10395837	10395837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10395837C>T	uc002gmo.3	-	39	5810	c.5716G>A	c.(5716-5718)Gag>Aag	p.E1906K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1906						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGCTCGTGCTGGATC	0.483000														72			24		0	0	0.004656	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20876070	20876070	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:20876070C>T	uc010sii.2	+	9	1423	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	SLCO1C1_uc010sij.2_Silent_p.F307F|SLCO1C1_uc009zip.3_Silent_p.F190F|SLCO1C1_uc001rei.3_Silent_p.F356F|SLCO1C1_uc010sik.2_Silent_p.F238F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	356					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.Y355D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CAGTATACTTCCTATATTTAT	0.373000														42			30		0	0	0.002836	0	0
SBNO1	55206	broad.mit.edu	37	12	123810811	123810811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:123810811G>A	uc010tap.2	-	12	1763	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	SBNO1_uc010tao.2_Missense_Mutation_p.S587F|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.S587F|SBNO1_uc001uet.2_Missense_Mutation_p.S588F|SBNO1_uc001uev.2_Missense_Mutation_p.S586F|SBNO1_uc009zxy.1_Missense_Mutation_p.S553F	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	588							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACCCCACATGGACTTCTTCAT	0.453000														137			34		0	0	0.004289	0	0
COL5A3	50509	broad.mit.edu	37	19	10081684	10081685	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10081684_10081685CC>TT	uc002mmq.1	-	52	3934_3935	c.3848_3849GG>AA	c.(3847-3849)ggg>gAA	p.G1283E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1283	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTCCCTTCTCCCCTGGGGAACC	0.584000														34			10		0	0	0.004672	0	0
ATP13A3	79572	broad.mit.edu	37	3	194150496	194150496	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:194150496G>T	uc003fty.4	-	25	3187	c.2785C>A	c.(2785-2787)Cgt>Agt	p.R929S	ATP13A3_uc003ftz.1_Missense_Mutation_p.R635S	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	929					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGCAGCACGGCCTTCCCTG	0.358000														30			26		7.92952e-12	1.09522e-11	0.003954	1	0
ARMC4	55130	broad.mit.edu	37	10	28228904	28228904	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:28228904C>T	uc009xky.3	-	13	2117	c.2019G>A	c.(2017-2019)agG>agA	p.R673R	ARMC4_uc010qds.2_Silent_p.R198R|ARMC4_uc010qdt.2_Silent_p.R365R|ARMC4_uc001itz.3_Silent_p.R673R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	673							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTCAATGATCCTTTCTGCTT	0.413000														23			21		0	0	0.004656	0	0
TPH2	121278	broad.mit.edu	37	12	72338091	72338092	+	Missense_Mutation	DNP	GG	AA	AA	rs146967917	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:72338091_72338092GG>AA	uc009zrw.1	+	2	414_415	c.273_274GG>AA	c.(271-276)atggtt>atAAtt	p.91_92MV>II	TPH2_uc001swy.2_Missense_Mutation_p.1_2MV>II	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	91	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTGTCAACATGGTTCATATTGA	0.406000														12			25		0	0	0.004672	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400739	11400739	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:11400739G>A	uc003gmq.3	-	1	1214	c.891C>T	c.(889-891)ttC>ttT	p.F297F	HS3ST1_uc021xmg.1_Silent_p.F297F	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	297						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CAACAAGCTCGAAGAACTTCT	0.443000														49			48		0	0	0.003610	0	0
RFT1	91869	broad.mit.edu	37	3	53155743	53155743	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:53155743C>T	uc003dgj.3	-	4	584	c.530G>A	c.(529-531)tGg>tAg	p.W177*		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	177					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GTACAATCCCCAGTGAGGCAA	0.433000														14			11		0	0	0.000978	0	0
FAT4	79633	broad.mit.edu	37	4	126412549	126412549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:126412549G>A	uc003ifj.4	+	16	14572	c.14572G>A	c.(14572-14574)Gag>Aag	p.E4858K	FAT4_uc011cgp.2_Missense_Mutation_p.E3099K|FAT4_uc003ifi.1_Missense_Mutation_p.E2335K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4858					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATATGACAGGGAGAAGCCAAT	0.428000														40			27		0	0	0.002445	0	0
FAM5B	57795	broad.mit.edu	37	1	177250217	177250217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:177250217G>A	uc001glf.3	+	7	2217	c.1905G>A	c.(1903-1905)tgG>tgA	p.W635*	FAM5B_uc001glg.3_Nonsense_Mutation_p.W530*	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	635						extracellular region		p.W635R(1)		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						GGAATAGGTGGAAGACTTTCT	0.498000														23			24		0	0	0.002780	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500758	27500758	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:27500758A>T	uc002rjl.1	+	3	668	c.250A>T	c.(250-252)Ata>Tta	p.I84L	SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.I84L	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	84	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCATGCCATACTGAGCGA	0.453000														32			17		0	0	0.004990	0	0
TFR2	7036	broad.mit.edu	37	7	100225227	100225227	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100225227G>A	uc003uvv.1	-	14	1809	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	TFR2_uc010lhc.1_Silent_p.V121V|TFR2_uc003uvu.1_Silent_p.V409V	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	580					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGACGGCAGGGACTCCCACAA	0.642000														13			7		0	0	0.001984	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:37270690G>A	uc001caz.2	-	14	2598	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_uc001cba.1_Silent_p.I821I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	821					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597000														38			20		0	0	0.008871	0	0
PLCE1	51196	broad.mit.edu	37	10	95791693	95791693	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:95791693T>A	uc001kjk.3	+	1	1524	c.890T>A	c.(889-891)tTg>tAg	p.L297*	PLCE1_uc010qnx.2_Nonsense_Mutation_p.L297*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	297					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)				AAGACCTTTTTGAGCCATTTT	0.398000														58			51		0	0	0.003610	0	0
NPNT	255743	broad.mit.edu	37	4	106859556	106859556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:106859556C>T	uc011cfd.2	+	5	787	c.574C>T	c.(574-576)Cct>Tct	p.P192S	NPNT_uc011cfc.2_Missense_Mutation_p.P179S|NPNT_uc011cfe.2_Missense_Mutation_p.P192S|NPNT_uc003hya.3_Missense_Mutation_p.P162S|NPNT_uc011cff.2_Missense_Mutation_p.P162S	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	162	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GCAGCTGGCTCCTGATGGGAG	0.512000														29			16		0	0	0.001523	0	0
USP5	8078	broad.mit.edu	37	12	6968686	6968686	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:6968686C>T	uc001qri.4	+	8	1170	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	USP5_uc001qrh.4_Nonsense_Mutation_p.Q371*	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	371					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						GGACCCTACCCAGGATTTCAG	0.562000														17			16		0	0	0.007413	0	0
VAC14	55697	broad.mit.edu	37	16	70731086	70731086	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:70731086G>A	uc002ezm.3	-	15	2169	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	VAC14_uc010cfw.3_Silent_p.F403F|VAC14_uc002ezn.3_Silent_p.F202F|VAC14_uc002ezl.3_Silent_p.F69F|VAC14_uc010cfx.1_Silent_p.F115F	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	637					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCTGGGTGAGGAAGCAGAGGG	0.607000														16			7		0	0	0.004482	0	0
DSCAML1	57453	broad.mit.edu	37	11	117351209	117351209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:117351209C>T	uc001prh.1	-	13	2916	c.2914G>A	c.(2914-2916)Gac>Aac	p.D972N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	912	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.F971F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGTTCCCGTCGAATCGCTGG	0.637000														1			6		0	0	0.001168	0	0
DUS1L	64118	broad.mit.edu	37	17	80018758	80018758	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80018758G>A	uc002kdq.3	-	7	1341	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	DUS1L_uc002kdp.3_Silent_p.L177L|DUS1L_uc002kdr.3_Silent_p.L308L	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	308					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGCAGCTTCAGCTCCTGGCTC	0.672000														26			4		0	0	0.000602	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806289	93806289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:93806289G>A	uc001pep.2	+	6	1488	c.1331G>A	c.(1330-1332)aGa>aAa	p.R444K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	444	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTTACTAAAAGAAAGAGACTC	0.423000														4			14		0	0	0.004990	0	0
NOBOX	135935	broad.mit.edu	37	7	144098962	144098962	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:144098962C>T	uc022aoj.1	-	3	292	c.292_splice	c.e3+1	p.G98_splice		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	98					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGTACTCACCCCTTGTGAGT	0.453000														12			19		0	0	0.001882	0	0
FAM127C	441518	broad.mit.edu	37	X	134156298	134156298	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:134156298C>T	uc004eyc.1	-	0	269	c.192G>A	c.(190-192)aaG>aaA	p.K64K		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	Homo sapiens family with sequence similarity 127, member C (FAM127C), mRNA.	64										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GGAACGTCACCTTCAGGGCGT	0.607000														16			10		0	0	0.000978	0	0
NLRP8	126205	broad.mit.edu	37	19	56485018	56485018	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:56485018G>A	uc002qmh.3	+	7	2606	c.2535_splice	c.e7-1	p.S845_splice	NLRP8_uc010etg.3_Intron	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	845						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTCCCATAGGATAGAGAACT	0.512000														64			86		0	0	0.003610	0	0
STAT4	6775	broad.mit.edu	37	2	191897874	191897874	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:191897874C>T	uc002usm.2	-	21	2168	c.1853_splice	c.e21-1	p.G618_splice	STAT4_uc002usn.2_Splice_Site_p.G618_splice|STAT4_uc010zgk.1_Splice_Site_p.G463_splice|STAT4_uc002uso.2_Splice_Site_p.G618_splice	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	618	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ATCTCACTTCCCCTTGAAAAA	0.443000														15			7		0	0	0.003080	0	0
OVGP1	5016	broad.mit.edu	37	1	111957818	111957818	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:111957818G>A	uc001eba.3	-	10	1361	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	OVGP1_uc001eaz.3_Silent_p.I397I|OVGP1_uc010owb.2_Silent_p.I83I	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	435					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ACTTTCCGTGGATCTCAGTGA	0.498000														19			32		0	0	0.002096	0	0
CYP3A43	64816	broad.mit.edu	37	7	99436751	99436751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:99436751G>A	uc003ury.1	+	2	277	c.174G>A	c.(172-174)tgG>tgA	p.W58*	CYP3A43_uc003urx.1_Nonsense_Mutation_p.W58*|CYP3A43_uc003urz.1_Nonsense_Mutation_p.W58*|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.G99E|CYP3A43_uc003usb.1_5'UTR	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	58			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGGGTCTTTGGAATTTTGACA	0.358000														34			29		0	0	0.002096	0	0
TPCN2	219931	broad.mit.edu	37	11	68839459	68839459	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:68839459C>T	uc001oos.2	+	10	1145	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Silent_p.S258S|TPCN2_uc010rqg.1_Silent_p.S343S|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	343					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCTATCCTCCATGGTGGGGG	0.632000														21			20		0	0	0.001882	0	0
NR1I2	8856	broad.mit.edu	37	3	119533863	119533863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119533863G>A	uc003edj.3	+	5	2671	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	NR1I2_uc003edi.3_Missense_Mutation_p.G241R|NR1I2_uc003edk.3_Missense_Mutation_p.G317R|NR1I2_uc003edl.3_Missense_Mutation_p.G166R	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	278	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CCTGCTGAAGGGGGCCGCTTT	0.612000														23			15		0	0	0.003163	0	0
WWP2	11060	broad.mit.edu	37	16	69965070	69965070	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:69965070C>T	uc002exu.1	+	14	1550	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	WWP2_uc002exv.1_Silent_p.S487S|WWP2_uc010vlm.1_Silent_p.S371S|WWP2_uc010vln.1_Silent_p.S105S|WWP2_uc002exw.1_Silent_p.S48S|MIR140_uc002exx.1_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	487					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.S487F(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCAAGGTTCCCCTGGTGCTT	0.498000														59			44		0	0	0.003610	0	0
FCRL3	115352	broad.mit.edu	37	1	157666086	157666086	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:157666086G>A	uc001fqz.4	-	6	1168	c.876C>T	c.(874-876)atC>atT	p.I292I	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.I18I|FCRL3_uc001frb.3_Silent_p.I292I|FCRL3_uc001frc.1_Silent_p.I292I	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	292	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CGGTGGGCCGGATCTCTAGAT	0.527000														58			16		0	0	0.004990	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726441	168726441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:168726441C>T	uc021vsc.1	+	0	892	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	B3GALT1_uc002udz.1_Missense_Mutation_p.R298C	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	298					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GTGTAGGTATCGCCGAGTTAT	0.433000														22			8		0	0	0.003080	0	0
UNC79	57578	broad.mit.edu	37	14	94120150	94120150	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94120150A>G	uc001ybv.1	+	34	5881	c.5798A>G	c.(5797-5799)cAg>cGg	p.Q1933R	UNC79_uc001ybs.1_Missense_Mutation_p.Q1911R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2088						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCTTCCATCAGTTGGCCCCC	0.552000														94			91		0	0	0.003610	0	0
APCS	325	broad.mit.edu	37	1	159558477	159558477	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159558477C>T	uc001ftv.3	+	1	747	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	217	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ATGTCATCATCAAACCCTTGG	0.463000														40			41		0	0	0.003610	0	0
MIER2	54531	broad.mit.edu	37	19	327918	327918	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:327918C>T	uc002lok.1	-	3	324	c.315G>A	c.(313-315)cgG>cgA	p.R105R		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CCTCACTCTCCCGGTCTGAAA	0.592000														15			10		0	0	0.008291	0	0
NPEPL1	79716	broad.mit.edu	37	20	57274285	57274285	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:57274285C>T	uc010zzs.1	+	4	725	c.630C>T	c.(628-630)atC>atT	p.I210I	NPEPL1_uc010zzr.2_Silent_p.I162I|NPEPL1_uc010gjo.2_Silent_p.I182I|NPEPL1_uc002xzp.3_Silent_p.I98I	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	210					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AGCTGGGGATCATCCCAACCA	0.542000														5			4		0	0	0.000602	0	0
PDE1C	5137	broad.mit.edu	37	7	31890269	31890269	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:31890269G>A	uc003tcm.2	-	7	1298	c.837C>T	c.(835-837)ttC>ttT	p.F279F	PDE1C_uc003tcn.1_Silent_p.F279F|PDE1C_uc003tco.2_Silent_p.F339F|PDE1C_uc003tcr.3_Silent_p.F279F|PDE1C_uc003tcs.3_Silent_p.F279F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	279	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCTGAATGTGGAAATTGTTGG	0.448000														47			42		0	0	0.003610	0	0
PDE2A	5138	broad.mit.edu	37	11	72289953	72289953	+	Silent	SNP	C	G	G	rs143835725		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:72289953C>G	uc010rrc.2	-	27	2703	c.2457G>C	c.(2455-2457)acG>acC	p.T819T	PDE2A_uc001oso.3_Silent_p.T798T|PDE2A_uc010rra.2_Silent_p.T812T|PDE2A_uc001osn.3_Silent_p.T563T|PDE2A_uc010rrb.2_Silent_p.T810T|PDE2A_uc010rrd.2_Silent_p.T704T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	819	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGATCTTTCTCGTAGTCTTCC	0.592000														120			100		0	0	0.003610	0	0
G6PC	2538	broad.mit.edu	37	17	41063431	41063431	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:41063431G>A	uc002icb.1	+	4	1141	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	354					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGCCGCACAAGAAGTCGTTGT	0.527000														55			15		0	0	0.004990	0	0
OR8D2	283160	broad.mit.edu	37	11	124189215	124189215	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:124189215C>T	uc010sah.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CATCCTTGTTCCTCAGGCTAT	0.428000														32			23		0	0	0.002780	0	0
TNRC6B	23112	broad.mit.edu	37	22	40706893	40706893	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:40706893C>A	uc011aor.2	+	16	4542	c.4331C>A	c.(4330-4332)aCa>aAa	p.T1444K	TNRC6B_uc003aym.3_Missense_Mutation_p.T640K|TNRC6B_uc003ayn.4_Missense_Mutation_p.T1334K|TNRC6B_uc003ayo.3_Missense_Mutation_p.T1191K	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1444					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCTGGTGACACACTGGGTGGC	0.498000														11			6		3.59834e-05	4.93828e-05	0.001168	1	0
SPRR2D	6703	broad.mit.edu	37	1	153012692	153012692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:153012692G>A	uc021ozq.1	-	0	131	c.131C>T	c.(130-132)cCc>cTc	p.P44L	SPRR2D_uc001fbb.2_Missense_Mutation_p.P44L	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	44	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGGGCAGGGCTGTGGACA	0.612000														96			39		0	0	0.008740	0	0
abParts	0	broad.mit.edu	37	14	107282946	107282946	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:107282946C>T	uc021ser.1	-	1		c.117G>A								Parts of antibodies, mostly variable regions.																		CCATCCCATCCACTCAAGCCC	0.552000														50			29		0	0	0.001786	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44796724	44796724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:44796724C>T	uc003tlr.3	+	3	467	c.344C>T	c.(343-345)cCt>cTt	p.P115L	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P83L|ZMIZ2_uc003tls.3_Missense_Mutation_p.P115L|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	115	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGGGGCTACCCTGGGGCCCCC	0.642000														5			8		0	0	0.003080	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355126	33355126	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:33355126G>A	uc002ntv.4	-	3	471	c.354C>T	c.(352-354)atC>atT	p.I118I	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Silent_p.I118I|SLC7A9_uc021usa.1_Silent_p.I118I|SLC7A9_uc002ntw.4_5'UTR	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	118					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCTTAATGACGATCAGGCTGG	0.572000														32			8		0	0	0.004482	0	0
ALPK1	80216	broad.mit.edu	37	4	113346895	113346895	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:113346895C>T	uc003ian.4	+	6	837	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Silent_p.L204L|ALPK1_uc011cfx.2_Silent_p.L126L|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	204							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGGCAGATTCTGCAAAAGCT	0.413000														77			29		0	0	0.008361	0	0
ACE	1636	broad.mit.edu	37	17	61560476	61560476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61560476G>A	uc002jau.2	+	8	1463	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.G294R|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	477	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGGCGCTGGGGGGTCTTTAG	0.532000														170			21		0	0	0.005443	0	0
ZNF71	58491	broad.mit.edu	37	19	57132752	57132752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:57132752C>T	uc002qnm.4	+	2	335	c.97C>T	c.(97-99)Cct>Tct	p.P33S	ZNF71_uc021vcg.1_Missense_Mutation_p.P33S	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	33						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCCAGGGGTCCTGGCTCAGA	0.587000														18			7		0	0	0.001984	0	0
TGM2	7052	broad.mit.edu	37	20	36760877	36760877	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:36760877G>A	uc002xhr.3	-	10	1741	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	TGM2_uc002xhq.3_Silent_p.L148L|TGM2_uc010zvx.2_Silent_p.L466L|TGM2_uc010zvy.2_Silent_p.L487L|TGM2_uc002xhs.1_Silent_p.L523L	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	547					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ATTTCTCATAGAGGATGCAAA	0.547000														89			82		0	0	0.003610	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458098	45458098	+	RNA	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:45458098C>T	uc001rol.3	-	0		c.1097G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GCCAGCATTCCCTCTCCAATC	0.507000														7			14		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	8976277	8976277	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:8976277T>C	uc002mkp.3	-	74	42755	c.42551A>G	c.(42550-42552)gAt>gGt	p.D14184G	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.D984G|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14215	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGGCTATCCCTGTCCAG	0.512000														14			8		0	0	0.006214	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101970302	101970302	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:101970302C>T	uc022cbh.1	+	0	505	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	ARMCX5-GPRASP2_uc022cay.1_Silent_p.L169L|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.L169L|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.L169L|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.L169L|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.L169L|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.L169L|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.L169L	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	169						cytoplasm	protein binding										ATCTAAGGGCCTGTCTATGGA	0.527000														3			59		0	0	0.003610	0	0
CACNB2	783	broad.mit.edu	37	10	18789789	18789789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:18789789G>A	uc001ipr.2	+	4	565	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	CACNB2_uc001ipt.2_Missense_Mutation_p.E169K|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.E169K|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.E141K|CACNB2_uc001ipv.3_Missense_Mutation_p.E141K|CACNB2_uc009xka.2_Missense_Mutation_p.E141K|CACNB2_uc001ipw.2_Missense_Mutation_p.E114K|CACNB2_uc001ipx.2_Missense_Mutation_p.E114K|CACNB2_uc009xkb.1_Missense_Mutation_p.E115K|CACNB2_uc010qcm.2_Missense_Mutation_p.E115K|CACNB2_uc001ipz.2_Missense_Mutation_p.E115K|CACNB2_uc001ipy.2_Missense_Mutation_p.E115K|CACNB2_uc010qcn.2_Missense_Mutation_p.E121K|CACNB2_uc010qco.1_Missense_Mutation_p.E121K|CACNB2_uc001iqa.2_Missense_Mutation_p.E121K	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	169	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAAGGCTGTGAAATCGGATT	0.408000														42			14		0	0	0.003163	0	0
VANGL2	57216	broad.mit.edu	37	1	160389283	160389283	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160389283C>T	uc001fwb.2	+	4	983	c.684C>T	c.(682-684)ttC>ttT	p.F228F	VANGL2_uc001fwc.2_Silent_p.F228F	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	228					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCTTCTTTTCGTGCACTACC	0.647000														31			13		0	0	0.002450	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698678	187698678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:187698678G>A	uc002upu.1	-	5	863	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	275					apoptosis		zinc ion binding	p.R275C(4)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTACCTCACGAAATGTAAAC	0.363000														21			9		0	0	0.006214	0	0
GPR128	84873	broad.mit.edu	37	3	100373774	100373774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:100373774C>T	uc003duc.3	+	11	1743	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	GPR128_uc011bhc.2_Missense_Mutation_p.S193F|GPR128_uc003dud.3_Missense_Mutation_p.S15F	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	492					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTGAAAACTCCAATAAGAAC	0.383000														40			27		0	0	0.006320	0	0
HSF1	3297	broad.mit.edu	37	8	145535756	145535756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145535756C>T	uc003zbt.4	+	8	1138	c.968C>T	c.(967-969)aCc>aTc	p.T323I	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	323						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TCCGTGGACACCCTCTTGTCC	0.706000														9			4		0	0	0.000248	0	0
PRB2	653247	broad.mit.edu	37	12	11546453	11546453	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:11546453C>G	uc010shk.1	-	2	594	c.559G>C	c.(559-561)Gga>Cga	p.G187R		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)			TGGTTGCCTCCTTGTGGGGGT	0.602000														119			34		0	0	0.003610	0	0
UGT3A2	167127	broad.mit.edu	37	5	36038066	36038066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:36038066C>T	uc003jjz.2	-	5	1260	c.1128G>A	c.(1126-1128)atG>atA	p.M376I	UGT3A2_uc011cos.2_Missense_Mutation_p.M342I|UGT3A2_uc011cot.2_Missense_Mutation_p.M74I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	376						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATGGCCTCCATTATGCTAT	0.493000														25			28		0	0	0.007291	0	0
OR4N2	390429	broad.mit.edu	37	14	20295843	20295843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20295843C>T	uc010tkv.2	+	0	236	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTGTGGCTCCCCGGATGTTG	0.517000														195			36		0	0	0.007835	0	0
BIN2	51411	broad.mit.edu	37	12	51696470	51696470	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:51696470C>T	uc001ryg.3	-	4	364	c.312_splice	c.e4+1	p.W104_splice	BIN2_uc009zlz.3_Splice_Site_p.W104_splice|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Splice_Site_p.W78_splice	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	104	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCACTCTTACCCATACGATGG	0.443000														87			35		0	0	0.005524	0	0
SPP1	6696	broad.mit.edu	37	4	88902819	88902819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:88902819C>T	uc003hra.3	+	5	574	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	SPP1_uc011cde.2_Missense_Mutation_p.P150S|SPP1_uc003hrb.3_Missense_Mutation_p.P110S|SPP1_uc003hrc.3_Missense_Mutation_p.P123S|SPP1_uc003hrd.3_Missense_Mutation_p.P96S	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	137					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CACTGATTTTCCCACGGACCT	0.468000														59			47		0	0	0.003610	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083391	44083391	+	Silent	SNP	A	G	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:44083391A>G	uc003bdy.2	-	10	1416	c.1102T>C	c.(1102-1104)Ttg>Ctg	p.L368L	EFCAB6_uc003bdz.2_Silent_p.L216L|EFCAB6_uc010gzi.2_Silent_p.L216L|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Silent_p.L365L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	368					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)				CTAACTTGCAACCCCTGAGGC	0.289000														32			26		0	0	0.006320	0	0
CHDH	55349	broad.mit.edu	37	3	53853615	53853615	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:53853615G>A	uc003dgz.3	-	6	1648	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	403					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGGGATGGCAGGAAATGGAAC	0.627000														19			8		0	0	0.004482	0	0
ABCC10	89845	broad.mit.edu	37	6	43410735	43410735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:43410735C>T	uc003ouy.1	+	9	2469	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	ABCC10_uc003ouz.1_Missense_Mutation_p.P724S|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	752	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L752L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTCGATGACCCTCTGGCCGC	0.592000														43			9		0	0	0.008291	0	0
COL14A1	7373	broad.mit.edu	37	8	121379423	121379423	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:121379423C>T	uc003yox.3	+	45	5356	c.5091C>T	c.(5089-5091)atC>atT	p.I1697I	COL14A1_uc003yoz.3_Silent_p.I662I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1697	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAACTGGTATCAAAGGAGAAA	0.378000														19			19		0	0	0.008871	0	0
MYCBP2	23077	broad.mit.edu	37	13	77661649	77661649	+	Silent	SNP	T	C	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:77661649T>C	uc021rks.1	-	61	11112	c.10845A>G	c.(10843-10845)gaA>gaG	p.E3615E	MYCBP2_uc010aev.3_Silent_p.E2981E|MYCBP2_uc001vke.3_Silent_p.E197E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGTTTTATTTTCTTCATCCT	0.353000														8			7		0	0	0.004482	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232978	1232978	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1232978C>T	uc003jby.2	+	2	537	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	138					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGGAGCTCCTGCCCACCGG	0.632000														31			4		0	0	0.001168	0	0
PITPNM1	9600	broad.mit.edu	37	11	67260519	67260519	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:67260519G>A	uc001olx.3	-	21	3546	c.3357C>T	c.(3355-3357)atC>atT	p.I1119I	PITPNM1_uc001olw.3_Silent_p.I401I|PITPNM1_uc001oly.3_Silent_p.I1119I|PITPNM1_uc001olz.3_Silent_p.I1118I	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	1119					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AACCGGCCACGATGTTCAGTT	0.647000														47			61		0	0	0.003610	0	0
RNF217	154214	broad.mit.edu	37	6	125397890	125397890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:125397890C>T	uc003pzr.3	+	3	1198	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	RNF217_uc003pzs.3_Missense_Mutation_p.R165C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	165					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TGAGAGATACCGCCAGCTCCG	0.443000														48			44		0	0	0.003610	0	0
FBLN1	2192	broad.mit.edu	37	22	45923826	45923826	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:45923826C>T	uc010gzz.3	+	4	682	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	FBLN1_uc003bgg.1_Nonsense_Mutation_p.Q141*|FBLN1_uc003bgh.3_Nonsense_Mutation_p.Q141*|FBLN1_uc003bgi.1_Nonsense_Mutation_p.Q141*|FBLN1_uc003bgj.1_Nonsense_Mutation_p.Q141*	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	141	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACAGGTCTTCCAGGCATGCTG	0.597000														42			19		0	0	0.001523	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718232	2718232	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:2718232G>A	uc002klm.4	+	18	2527	c.2338_splice	c.e18+1	p.E780_splice	SMCHD1_uc002klk.4_Splice_Site|SMCHD1_uc002kll.4_Splice_Site	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	780					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTAAAAAAATGGGTGAGTTCT	0.284000														24			14		0	0	0.004007	0	0
FBN2	2201	broad.mit.edu	37	5	127609652	127609652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:127609652C>T	uc003kuu.3	-	60	8159	c.7720G>A	c.(7720-7722)Gaa>Aaa	p.E2574K		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2574	EGF-like 44; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACCCACATTCGTTGTTGTCT	0.433000														17			10		0	0	0.001855	0	0
PZP	5858	broad.mit.edu	37	12	9322155	9322155	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:9322155G>A	uc001qvl.3	-	15	1901	c.1872C>T	c.(1870-1872)acC>acT	p.T624T	PZP_uc009zgl.3_Silent_p.T493T|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_5'UTR	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGGAAAATTGGTGAGATCCT	0.418000														21			17		0	0	0.001882	0	0
UPB1	51733	broad.mit.edu	37	22	24916373	24916373	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:24916373C>T	uc003aaf.3	+	6	2105	c.810C>T	c.(808-810)atC>atT	p.I270I	UPB1_uc003aae.3_Silent_p.I202I|UPB1_uc021wnh.1_Non-coding_Transcript	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	270	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	p.I270I(2)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TGTGGCCCATCGAGGCCAGAA	0.612000														13			7		0	0	0.004482	0	0
RNF17	56163	broad.mit.edu	37	13	25374598	25374599	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:25374598_25374599AC>TT	uc001upr.3	+	12	1725_1726	c.1684_1685AC>TT	c.(1684-1686)act>TTt	p.T562F	RNF17_uc010tdd.1_Missense_Mutation_p.T421F|RNF17_uc010tde.2_Missense_Mutation_p.T562F|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T501F	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	562					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGAACCATATACTGAAGGGCTG	0.381000														32			33		0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228466962	228466962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:228466962C>T	uc009xez.1	+	26	7257	c.7213C>T	c.(7213-7215)Ccc>Tcc	p.P2405S	OBSCN_uc001hsn.3_Missense_Mutation_p.P2405S|OBSCN_uc001hsp.1_Missense_Mutation_p.P104S|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2405					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCTCCATCCCCTCAGTGCG	0.637000														18			12		0	0	0.003163	0	0
ITPR1	3708	broad.mit.edu	37	3	4854903	4854903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:4854903C>T	uc003bqc.3	+	55	7851	c.7501C>T	c.(7501-7503)Cct>Tct	p.P2501S	ITPR1_uc021wsi.1_Missense_Mutation_p.P2468S|ITPR1_uc021wsj.1_Missense_Mutation_p.P2453S|ITPR1_uc011asu.2_Missense_Mutation_p.P479S|ITPR1_uc010hcc.2_Missense_Mutation_p.P236S|ITPR1_uc011asv.2_Missense_Mutation_p.P192S	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2516	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGCTCCTCTCCTGCACCCAG	0.507000														36			34		0	0	0.003271	0	0
NEB	4703	broad.mit.edu	37	2	152507129	152507129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:152507129C>T	uc021vrb.1	-	50	7215	c.7186G>A	c.(7186-7188)Gat>Aat	p.D2396N	NEB_uc002txu.3_Missense_Mutation_p.D2396N|NEB_uc021vrc.1_Missense_Mutation_p.D2396N|NEB_uc010fnx.3_Missense_Mutation_p.D2396N|NEB_uc021vrd.1_Missense_Mutation_p.D2396N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2396					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)		TGCACAACATCGTTCTGATCA	0.388000														40			93		0	0	0.003610	0	0
TIE1	7075	broad.mit.edu	37	1	43772659	43772659	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:43772659C>T	uc001ciu.3	+	3	810	c.633C>T	c.(631-633)atC>atT	p.I211I	TIE1_uc010okd.2_Silent_p.I211I|TIE1_uc010oke.2_Silent_p.I166I|TIE1_uc009vwq.3_Silent_p.I211I|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010okb.2_Silent_p.I211I|TIE1_uc010okc.2_Silent_p.I211I	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	211					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCGGCTCATCGTGCGGGGTC	0.637000														15			7		0	0	0.001984	0	0
CPNE2	221184	broad.mit.edu	37	16	57153179	57153179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:57153179C>T	uc010cct.2	+	6	1005	c.658C>T	c.(658-660)Cac>Tac	p.H220Y	CPNE2_uc002eks.2_Missense_Mutation_p.H194Y|CPNE2_uc010ccu.2_Missense_Mutation_p.H194Y	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	194	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GATGCTGGTCCACAGGACTGA	0.592000														22			19		0	0	0.002780	0	0
INPP5E	56623	broad.mit.edu	37	9	139327674	139327674	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:139327674G>A	uc004cho.3	-	3	1477	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	INPP5E_uc010nbm.3_Silent_p.S364S	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	364						Golgi cisterna membrane|cilium axoneme|cytoskeleton	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGCCGCCGAGGACAGCAGCA	0.692000														11			4		0	0	0.000248	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459888	107459888	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:107459888C>T	uc002tdq.3	-	1	665	c.546G>A	c.(544-546)agG>agA	p.R182R	ST6GAL2_uc002tdr.3_Silent_p.R182R|ST6GAL2_uc002tds.3_Silent_p.R182R	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	182					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACACGTGGCTCCTTCTCTGCC	0.647000														19			16		0	0	0.006122	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414996	42414996	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:42414996G>A	uc003gwr.2	-	36	3664	c.3432C>T	c.(3430-3432)atC>atT	p.I1144I	ATP8A1_uc003gwq.2_Silent_p.I370I|ATP8A1_uc003gws.2_Silent_p.I1129I|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1144					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.I1144I(2)|p.I1129I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACTGTGAAACGATTCCATTTT	0.438000														30			9		0	0	0.006214	0	0
ITSN1	6453	broad.mit.edu	37	21	35260506	35260506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:35260506G>A	uc002yta.1	+	39	5336	c.5068G>A	c.(5068-5070)Ggc>Agc	p.G1690S	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.G1685S|ITSN1_uc002ytj.2_Missense_Mutation_p.G1629S|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1690					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAAAGACCAGGGCTCCAAAGG	0.532000														26			17		0	0	0.004990	0	0
WBP11	51729	broad.mit.edu	37	12	14941981	14941981	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:14941981G>A	uc001rci.3	-	10	1557	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	466	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCAGGGGGTCGGCCTGGTGGT	0.642000														16			17		0	0	0.007413	0	0
MUC5B	727897	broad.mit.edu	37	11	1263664	1263664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1263664G>A	uc001lta.3	+	30	5613	c.5554G>A	c.(5554-5556)Gag>Aag	p.E1852K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1852	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCAGCCTGGAGACGGGGCT	0.587000														23			11		0	0	0.000978	0	0
ERC2	26059	broad.mit.edu	37	3	56330423	56330423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:56330423C>T	uc021wzo.1	-	1	838	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	ERC2_uc003dhr.1_Missense_Mutation_p.R233Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	233						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)		TCTCTGGGTTCGCAGCTCATC	0.522000														32			10		0	0	0.006214	0	0
FPR3	2359	broad.mit.edu	37	19	52327436	52327436	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52327436G>A	uc002pxt.1	+	1	619	c.435G>A	c.(433-435)gtG>gtA	p.V145V	FPR3_uc021uyq.1_Silent_p.V145V	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	145					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CCAAGAGGGTGATGACGGGAC	0.478000														11			31		0	0	0.007291	0	0
KCNV1	27012	broad.mit.edu	37	8	110984918	110984918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:110984918C>T	uc003ynr.4	-	1	1364	c.560G>A	c.(559-561)gGa>gAa	p.G187E	KCNV1_uc010mcw.3_Missense_Mutation_p.G187E	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	187						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.Q186K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGACAAGGTCCTTGGGAGAA	0.473000														55			29		0	0	0.006320	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140723892	140723892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140723892C>T	uc003ljm.2	+	0	292	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Nonsense_Mutation_p.Q98*	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	98	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGCGCTCAGATCCCGCT	0.453000														12			20		0	0	0.008871	0	0
CP	1356	broad.mit.edu	37	3	148905923	148905923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:148905923C>T	uc003ewy.4	-	9	2033	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.E375K|CP_uc003ewz.3_Missense_Mutation_p.E594K|CP_uc010hvf.1_Missense_Mutation_p.E320K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	594	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATATTATCTTCCAGGAGTAAA	0.338000														80			32		0	0	0.002445	0	0
ATM	472	broad.mit.edu	37	11	108121480	108121480	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:108121480T>A	uc001pkb.1	+	9	1673	c.1288T>A	c.(1288-1290)Tgt>Agt	p.C430S	ATM_uc009yxr.1_Missense_Mutation_p.C430S	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	430					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.N429fs*7(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTACCTAACTGTGAGCTGTC	0.378000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				26			20		0	0	0.001882	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036309	71036309	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:71036309G>A	uc003tvy.3	+	5	1002	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	WBSCR17_uc003tvz.3_Silent_p.R33R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	334	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGTCAACAGGAAGTTCTTCG	0.502000														55			37		0	0	0.004878	0	0
PCM1	5108	broad.mit.edu	37	8	17823920	17823920	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:17823920C>T	uc022asj.1	+	18	3298	c.3276C>T	c.(3274-3276)ttC>ttT	p.F1092F	PCM1_uc003wyi.4_Silent_p.F1053F|PCM1_uc011kyh.2_Silent_p.F1053F|PCM1_uc003wyj.4_Silent_p.F1054F	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1053					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGTACACTTCATAATGCACC	0.393000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									100			23		0	0	0.002780	0	0
KRT35	3886	broad.mit.edu	37	17	39637161	39637161	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39637161G>A	uc002hws.3	-	0	232	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	63	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGCAGCTGGTGGCCCTGTAGC	0.612000														20			7		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13870977	13870977	+	Missense_Mutation	SNP	G	A	A	rs149609746		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:13870977G>A	uc003jfd.2	-	23	3775	c.3733C>T	c.(3733-3735)Cgt>Tgt	p.R1245C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1245	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAATTGGACGATTTAGTTTC	0.393000									Kartagener syndrome					29			17		0	0	0.004990	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671372	112671372	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:112671372G>A	uc003pvx.1	+	2	774	c.462G>A	c.(460-462)gaG>gaA	p.E154E	RFPL4B_uc021zdy.1_Silent_p.E154E	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	154	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGTGGGAGAGGTGAAGTCAT	0.552000														25			34		0	0	0.005524	0	0
ZNF862	643641	broad.mit.edu	37	7	149558499	149558500	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:149558499_149558500CC>TT	uc010lpn.3	+	6	2442_2443	c.2250_2251CC>TT	c.(2248-2253)atccgc>atTTgc	p.R751C		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.R751C(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ACCGGCACATCCGCACCGTCTT	0.609000														24			21		0	0	0.004672	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758648	62758648	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:62758648G>A	uc011kdj.2	-	1	230	c.162C>T	c.(160-162)tcC>tcT	p.S54S						Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA.																		CCTCACCCAGGGAGACCAAGT	0.353000														39			26		0	0	0.002836	0	0
CPNE1	8904	broad.mit.edu	37	20	34220719	34220719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:34220719C>T	uc010zvj.2	-	1	509	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CPNE1_uc002xde.3_Missense_Mutation_p.E43K|CPNE1_uc002xdf.3_Missense_Mutation_p.E43K|CPNE1_uc002xdi.3_Missense_Mutation_p.E43K|CPNE1_uc002xdj.3_Missense_Mutation_p.E43K|CPNE1_uc002xdl.3_Missense_Mutation_p.E43K|CPNE1_uc002xdm.3_Missense_Mutation_p.E43K|CPNE1_uc010gfk.2_Missense_Mutation_p.E43K|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Non-coding_Transcript	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	43	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CGCCTCACCTCAGCCCAGCTG	0.557000														54			12		0	0	0.001368	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47118857	47118857	+	Silent	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:47118857C>T	uc002iom.3	+	7	1270	c.936C>T	c.(934-936)atC>atT	p.I312I	IGF2BP1_uc010dbj.3_Silent_p.I173I	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	312	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export.				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						AAATCACCATCTCCTCGTAAG	0.463000														19			17		0	0	0.006122	0	0
MYH7	4625	broad.mit.edu	37	14	23897062	23897062	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:23897062G>A	uc001wjx.3	-	15	1726	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	540	Myosin head-like.				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			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)		TGGCCTTGGGGAACATGCACT	0.547000														27			24		0	0	0.002780	0	0
FLNC	2318	broad.mit.edu	37	7	128494221	128494221	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:128494221G>A	uc003vnz.4	+	39	6887	c.6678G>A	c.(6676-6678)ctG>ctA	p.L2226L	FLNC_uc003voa.4_Silent_p.L2193L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2226	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGACTTCCTGGGCCGGGAGC	0.711000														7			6		0	0	0.004482	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016349	43016349	+	RNA	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:43016349G>A	uc001jab.4	-	4		c.2851C>T			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		GAATTCTCAGGGAAAGCTTTC	0.373000														20			16		0	0	0.004990	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013857	117013857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:117013857G>A	uc009zwk.1	+	1	264	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	MAP1LC3B2_uc021rej.1_Missense_Mutation_p.R37Q	NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 beta 2 (MAP1LC3B2), mRNA.	37					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		p.R37Q(2)		breast(1)|large_intestine(2)|lung(3)	6						ATAATAGAACGATACAAGGGT	0.458000														64			30		0	0	0.002096	0	0
ACAP1	9744	broad.mit.edu	37	17	7240682	7240682	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7240682G>A	uc002ggd.2	+	1	311	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	35	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGACCCGTCTGGAAAAGGTGA	0.557000														45			16		0	0	0.004007	0	0
BTNL8	79908	broad.mit.edu	37	5	180374603	180374603	+	Silent	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:180374603G>A	uc003mmp.3	+	3	999	c.765G>A	c.(763-765)aaG>aaA	p.K255K	BTNL8_uc003mmq.3_Silent_p.K255K|BTNL8_uc010jll.3_Silent_p.K255K|BTNL8_uc011dhg.2_Silent_p.K130K|BTNL8_uc010jlm.3_Silent_p.K139K|BTNL8_uc011dhh.2_Silent_p.K71K	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	255						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGACTGAAGATTTTCTTCT	0.473000														124			57		0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821151	43821151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:43821151G>A	uc010skx.2	-	26	4067	c.4067C>T	c.(4066-4068)cCa>cTa	p.P1356L	ADAMTS20_uc001rno.1_Missense_Mutation_p.P474L	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1356	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACAAGGCCCTGGACCACATTG	0.448000														35			16		0	0	0.004990	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890584	63890584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:63890584G>A	uc003jtj.3	+	3	511	c.511G>A	c.(511-513)Gag>Aag	p.E171K	RGS7BP_uc011cqu.2_Missense_Mutation_p.E38K	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	171					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CAAAATTGAGGAGAGTGCTGA	0.478000														26			41		0	0	0.002222	0	0
FHL5	9457	broad.mit.edu	37	6	97053856	97053856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:97053856G>A	uc003pos.2	+	4	829	c.413G>A	c.(412-414)gGg>gAg	p.G138E	FHL5_uc003pot.2_Missense_Mutation_p.G138E	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	138	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CAACCTATAGGGACAAAGCCT	0.413000														25			9		0	0	0.004482	0	0
ASXL3	80816	broad.mit.edu	37	18	31324329	31324329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:31324329G>A	uc010dmg.1	+	11	4572	c.4517G>A	c.(4516-4518)aGg>aAg	p.R1506K	ASXL3_uc002kxq.2_Missense_Mutation_p.R1213K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGACCAGTGAGGACAGAGGCA	0.557000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			5		0	0	0.000602	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696044	222696044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:222696044G>A	uc001hnh.1	-	8	2132	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	692					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGGACGTGGGGCCCCACTCTG	0.567000														332			115		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711422	140711422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140711422C>T	uc003lji.2	+	0	1171	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S	PCDHGC5_uc011dan.2_Missense_Mutation_p.P391S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	394	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)			TGGAAATTTACCCTTTAAATT	0.393000														23			9		0	0	0.004482	0	0
SLC6A7	6534	broad.mit.edu	37	5	149581965	149581965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:149581965G>A	uc003lrr.3	+	6	1285	c.914G>A	c.(913-915)gGg>gAg	p.G305E		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	305						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GGCTTCGGGGGGCTCCTCACC	0.572000														53			23		0	0	0.004656	0	0
FOXD2	2306	broad.mit.edu	37	1	47905020	47905020	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:47905020delG	uc001crm.3	+	0	3332	c.1213delG	c.(1213-1215)gggfs	p.G405fs		NM_004474	NP_004465	O60548	FOXD2_HUMAN	Homo sapiens forkhead box D2 (FOXD2), mRNA.	405	Ala-rich.|Gly-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CGGGGGCGCCGGGGCAGGGCA	0.766													---	4	---	---	2	---					
GPR61	83873	broad.mit.edu	37	1	110085890	110085905	+	Frame_Shift_Del	DEL	CTGCCTGGTGGACCTG	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110085890_110085905delCTGCCTGGTGGACCTG	uc021orh.1	+	0	246_261	c.246_261delCTGCCTGGTGGACCTG	c.(244-261)ctctgcctggtggacctgfs	p.L82fs	GPR61_uc001dxy.2_Frame_Shift_Del_p.L82fs	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	82						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D86G(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTCCACCTCTGCCTGGTGGACCTGCTGGCTGCCC	0.616													---	33	---	---	23	---					
BIRC6	57448	broad.mit.edu	37	2	32828074	32828074	+	Splice_Site	DEL	T	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:32828074delT	uc010ezu.3	+	71	14127	c.13993_splice	c.e71-1	p.V4665_splice		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4665	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTTCGTCAGGTTTGTTTAAGC	0.343													---	48	---	---	14	---					
YTHDC2	64848	broad.mit.edu	37	5	112874846	112874846	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112874846delA	uc003kqn.3	+	7	1380	c.1178delA	c.(1177-1179)gaafs	p.E393fs	YTHDC2_uc010jce.2_Frame_Shift_Del_p.E393fs|YTHDC2_uc010jcf.2_Frame_Shift_Del_p.E93fs	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	393							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E393*(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACAAACAAAGAAATGTTAAAA	0.229													---	16	---	---	17	---					
GRIK2	2898	broad.mit.edu	37	6	102247659	102247659	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:102247659delT	uc003pqp.4	+	6	1381	c.1088delT	c.(1087-1089)attfs	p.I363fs	GRIK2_uc003pqn.3_Frame_Shift_Del_p.I363fs|GRIK2_uc010kcw.3_Frame_Shift_Del_p.I363fs|GRIK2_uc003pqo.4_Frame_Shift_Del_p.I363fs|GRIK2_uc021zdk.1_Frame_Shift_Del_p.I363fs|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	363					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATGAGTCTAATTAAAGAGGTA	0.438													---	42	---	---	16	---					
TRAF1	7185	broad.mit.edu	37	9	123675735	123675735	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:123675735delC	uc004bku.2	-	4	1148	c.576delG	c.(574-576)gggfs	p.G192fs	TRAF1_uc011lyg.2_Frame_Shift_Del_p.G70fs|TRAF1_uc010mvl.2_Frame_Shift_Del_p.G192fs	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.G192G(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612													---	33	---	---	19	---					
TAF3	83860	broad.mit.edu	37	10	8007517	8007517	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:8007517delT	uc010qbd.2	+	2	2044	c.2044delT	c.(2044-2046)ttgfs	p.L682fs		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	682	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCCATCTTTGTTGCCAGTGCT	0.507													---	42	---	---	32	---					
AMPD3	272	broad.mit.edu	37	11	10514955	10514956	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:10514955_10514956insA	uc001min.1	+	6	1371_1372	c.1026_1027insA	c.(1024-1029)atcaagfs	p.I342fs	AMPD3_uc010rbz.1_Frame_Shift_Ins_p.I174fs|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Frame_Shift_Ins_p.I333fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Ins_p.I340fs|AMPD3_uc009yfy.2_Frame_Shift_Ins_p.I333fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	333					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCGCTTCATCAAGCACACATA	0.614													---	77	---	---	47	---					
AKAP11	11215	broad.mit.edu	37	13	42876378	42876387	+	Frame_Shift_Del	DEL	CTCATGCGAT	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:42876378_42876387delCTCATGCGAT	uc001uys.2	+	7	3671_3680	c.3496_3505delCTCATGCGAT	c.(3496-3507)ctcatgcgatctfs	p.L1166fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1166					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CATGTTGAAACTCATGCGATCTCTTTCTGA	0.429													---	47	---	---	27	---					
SSTR1	6751	broad.mit.edu	37	14	38678738	38678738	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:38678738delC	uc021rsi.1	+	0	144	c.144delC	c.(142-144)aacfs	p.N48fs	SSTR1_uc001wul.1_Frame_Shift_Del_p.N48fs	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	48					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CGTCCCAGAACGGGACCTTGA	0.692													---	11	---	---	11	---					
FMN1	342184	broad.mit.edu	37	15	33359221	33359221	+	Frame_Shift_Del	DEL	C	-	-	rs142673160	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:33359221delC	uc001zhf.4	-	0	865	c.865delG	c.(865-867)gctfs	p.A289fs	FMN1_uc001zhg.2_Frame_Shift_Del_p.A289fs	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	400	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTCCCTCAGCGGTAGCCCCC	0.498													---	25	---	---	16	---					
VPS13C	54832	broad.mit.edu	37	15	62214170	62214170	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:62214170delC	uc002agz.3	-	54	7129	c.7038delG	c.(7036-7038)aagfs	p.K2346fs	VPS13C_uc002aha.3_Frame_Shift_Del_p.K2303fs|VPS13C_uc002ahb.2_Frame_Shift_Del_p.K2346fs|VPS13C_uc002ahc.2_Frame_Shift_Del_p.K2303fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2346					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCATTGTCTCTTCCCCTCCA	0.358													---	47	---	---	40	---					
DNAJA2	10294	broad.mit.edu	37	16	47005416	47005416	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:47005416delG	uc002eeo.2	-	2	349	c.207delC	c.(205-207)tacfs	p.Y69fs		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	69	J.				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CTTGCTCTCCGTATCTGTCAT	0.398													---	121	---	---	87	---					
NF1	4763	broad.mit.edu	37	17	29528134	29528141	+	Frame_Shift_Del	DEL	TTTCTTGC	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:29528134_29528141delTTTCTTGC	uc002hgg.3	+	9	1525_1532	c.1142_1149delTTTCTTGC	c.(1141-1149)gtttcttgcfs	p.V381fs	NF1_uc002hge.2_Frame_Shift_Del_p.V381fs|NF1_uc002hgf.2_Frame_Shift_Del_p.V381fs|NF1_uc002hgh.3_Frame_Shift_Del_p.V381fs|NF1_uc010csn.2_Frame_Shift_Del_p.V241fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	381					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGCCTTGTTTCTTGCTTTCGTATAA	0.370			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	43	---	---	17	---					
SPATA20	64847	broad.mit.edu	37	17	48632997	48632997	+	Frame_Shift_Del	DEL	G	-	-	rs150608206	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:48632997delG	uc002ird.3	+	16	2524	c.2383delG	c.(2383-2385)gaafs	p.E795fs	SPATA20_uc002irc.3_Frame_Shift_Del_p.E446fs|SPATA20_uc002ire.3_Frame_Shift_Del_p.E735fs|SPATA20_uc002irf.3_Frame_Shift_Del_p.E779fs|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	779					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	p.E795K(2)		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)			TGATCCCTGCGAATTACGAAA	0.567													---	15	---	---	14	---					
FTSJ3	117246	broad.mit.edu	37	17	61902618	61902624	+	Frame_Shift_Del	DEL	GATCTCT	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61902618_61902624delGATCTCT	uc002jbz.3	-	5	651_657	c.573_579delAGAGATC	c.(571-579)gcagagatcfs	p.A191fs	FTSJ3_uc002jca.3_Frame_Shift_Del_p.A191fs|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	191					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	p.E192Q(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGACTACAAAGATCTCTGCAGATTCAT	0.488													---	43	---	---	37	---					
ALDH16A1	126133	broad.mit.edu	37	19	49969512	49969512	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:49969512delG	uc002pnt.3	+	13	2026	c.1910delG	c.(1909-1911)cggfs	p.R637fs	ALDH16A1_uc010yar.2_Frame_Shift_Del_p.R586fs|ALDH16A1_uc010yas.2_Frame_Shift_Del_p.R472fs|ALDH16A1_uc010yat.2_Frame_Shift_Del_p.R474fs	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	637							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGGGGGGCCCGGGTGCAGGCC	0.697													---	4	---	---	2	---					
TLR7	51284	broad.mit.edu	37	X	12905306	12905308	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:12905306_12905308delCAG	uc004cvc.3	+	2	1818_1820	c.1679_1681delCAG	c.(1678-1683)acagca>aca	p.A561del		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	561					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTCCATTCAACAGCATTTGAAGA	0.369													---	14	---	---	173	---					
