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
MGAM	8972	broad.mit.edu	37	7	141754683	141754683	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:141754683C>T	uc003vwy.3	+	26	3343	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1097	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R1097C(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTGAAATTCGCCGGAAGAG	0.498000														56			8		0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75312457	75312457	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:75312457G>A	uc021xpc.1	+	1	478	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	90					G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			GTATGATAACGAACCACAAAT	0.448000														114			6		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272954	25272954	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr13:25272954C>T	uc010aaa.3	+	11	2022	c.1689C>T	c.(1687-1689)taC>taT	p.Y563Y	ATP12A_uc001upp.3_Silent_p.Y557Y	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	557					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACACAGCCTACATGGAGCTGG	0.642000														98			4		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11659918	11659918	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:11659918C>T	uc002gne.3	+	33	6840	c.6772C>T	c.(6772-6774)Ctg>Ttg	p.L2258L	DNAH9_uc010coo.3_Silent_p.L1552L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2258	AAA 2 (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)		GAGGATTCCTCTGAACCCCAC	0.572000														174			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3008995	3008995	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:3008995G>A	uc022aqr.1	-	39	6345	c.5955C>T	c.(5953-5955)atC>atT	p.I1985I	CSMD1_uc011kwj.2_Silent_p.I1378I|CSMD1_uc003wqe.3_Silent_p.I1142I|CSMD1_uc010lrg.3_Silent_p.I54I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1986	CUB 12.					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)		CGGGGCTCAGGATCACACCAC	0.517000														24			3		0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62487585	62487585	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:62487585G>A	uc001nuw.3	-	9	1919	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	564					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTCATTAGGGACAACCACC	0.468000														143			17		0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284154	47284154	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:47284154G>A	uc002ioo.2	-	3	482	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	GNGT2_uc021tzo.1_Missense_Mutation_p.P59S|GNGT2_uc021tzp.1_Missense_Mutation_p.P59S|GNGT2_uc021tzq.1_Missense_Mutation_p.P59S	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	59					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TCCTTGAAGGGATTCTTGTCC	0.532000														79			10		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156916114	156916114	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:156916114C>T	uc003lwz.3	-	19	2400	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q	ADAM19_uc003lww.2_Missense_Mutation_p.R507Q|ADAM19_uc003lwy.3_Missense_Mutation_p.R373Q|ADAM19_uc011ddr.1_Missense_Mutation_p.R705Q	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	774					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTACCTTTCGCTTGCCCTG	0.502000														27			6		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16024455	16024455	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:16024455G>A	uc002gpo.3	-	15	2032	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	NCOR1_uc002gpn.3_Missense_Mutation_p.S588F|NCOR1_uc002gpp.1_Missense_Mutation_p.S479F|NCOR1_uc002gpr.3_Missense_Mutation_p.S479F	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	588					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTTGTCATGGACCTGGTGAT	0.612000														111			8		0	0	1	0	0
PF4V1	5197	broad.mit.edu	37	4	74719578	74719578	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:74719578G>A	uc003hhg.1	+	1	246	c.179G>A	c.(178-180)aGc>aAc	p.S60N		NM_002620	NP_002611	P10720	PF4V_HUMAN	Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.	60					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CACATCACCAGCCTGGAGGTG	0.622000														36			4		0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162898386	162898386	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:162898386A>C	uc003lzh.3	+	6	749	c.567A>C	c.(565-567)caA>caC	p.Q189H	HMMR_uc003lzf.3_Missense_Mutation_p.Q188H|HMMR_uc003lzg.3_Missense_Mutation_p.Q173H|HMMR_uc011dem.2_Missense_Mutation_p.Q102H	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	188						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TGGCTAAGCAAGAAGGCATGG	0.468000														32			3		0	0	1	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	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			5		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117801	58117801	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:58117801C>T	uc002qpk.2	+	2	1128	c.908C>T	c.(907-909)tCc>tTc	p.S303F	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Non-coding_Transcript	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	303					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)		TGTGGCAAATCCTTTCGCCAG	0.443000														57			10		0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18541698	18541698	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:18541698C>T	uc002gud.2	-	7	727	c.315G>A	c.(313-315)gcG>gcA	p.A105A		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	105	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						GGCCCCGCACCGCCAGGGGAA	0.527000														125			11		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690343	84690343	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:84690343G>A	uc002bjz.4	+	25	4679	c.4455G>A	c.(4453-4455)gcG>gcA	p.A1485A	ADAMTSL3_uc010bmt.1_Silent_p.A1485A	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1485	TSP type-1 9.					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)			ACTGCCCAGCGAGGTAAGTGA	0.463000														53			9		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42167079	42167079	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:42167079G>A	uc001zos.3	-	22	4691	c.4358C>T	c.(4357-4359)tCc>tTc	p.S1453F		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1488					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)		GATGGCCGGGGAGGCGGCCAT	0.632000														44			4		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595357	44595357	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:44595357C>T	uc001clp.3	+	1	472	c.414C>T	c.(412-414)ccC>ccT	p.P138P	KLF17_uc009vxf.1_Silent_p.P101P	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	138					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			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)					TAGGAGAGCCCAATATTCCAA	0.542000														53			12		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813949	106813949	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:106813949G>A	uc003ymd.3	+	7	1662	c.1639G>A	c.(1639-1641)Ggg>Agg	p.G547R	ZFPM2_uc011lhs.2_Missense_Mutation_p.G278R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	547					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGCCCAAGGGGGCTACTTG	0.448000														111			9		0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46696962	46696962	+	Silent	SNP	G	A	A	rs146423023		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:46696962G>A	uc002zhc.3	-	5	826	c.801C>T	c.(799-801)atC>atT	p.I267I	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.I267I	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	267					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CCTGGAAGGGGATCCTGTCTG	0.562000														81			16		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041380	38041380	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:38041380C>T	uc003ati.3	+	9	1525	c.787C>T	c.(787-789)Cct>Tct	p.P263S	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.P263S|SH3BP1_uc003ath.1_Missense_Mutation_p.P263S|SH3BP1_uc003atj.1_Missense_Mutation_p.P199S|SH3BP1_uc003atk.1_Missense_Mutation_p.P177S|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	263					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGACCACTCCCCTTCGATGAC	0.652000														97			17		0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220408029	220408029	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:220408029C>A	uc002vmc.4	-	0	459	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	CHPF_uc010zlh.2_5'Flank|TMEM198_uc002vme.3_5'Flank|TMEM198_uc002vmf.3_5'Flank	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	78						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCGGCGCCTTCGCCGGCCCCG	0.731000														27			3		1	1	1	1	0
ITM2C	81618	broad.mit.edu	37	2	231742193	231742193	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:231742193C>T	uc002vqz.3	+	4	760	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	ITM2C_uc002vra.3_Silent_p.L167L|ITM2C_uc002vrb.3_Silent_p.L177L|ITM2C_uc002vrc.3_Silent_p.L103L|ITM2C_uc002vrd.3_Silent_p.L66L	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	214	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAAGGAGGCCCTGGGGTCCTT	0.627000														73			13		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72431560	72431560	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:72431560G>A	uc001xna.4	+	1	575	c.52G>A	c.(52-54)Gag>Aag	p.E18K	RGS6_uc021rvv.1_Intron|RGS6_uc010ttn.2_Missense_Mutation_p.E18K|RGS6_uc021rvw.1_Missense_Mutation_p.E18K|RGS6_uc021rvx.1_Missense_Mutation_p.E18K|RGS6_uc021rvy.1_Missense_Mutation_p.E18K|RGS6_uc021rvz.1_Missense_Mutation_p.E18K|RGS6_uc001xmy.4_Missense_Mutation_p.E18K|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.E18K|RGS6_uc021rwa.1_Missense_Mutation_p.E18K|RGS6_uc021rwb.1_Missense_Mutation_p.E18K	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	18					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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGACCCAGAGGAGAGTTCTCC	0.493000														62			8		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78338188	78338188	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:78338188G>A	uc003kfs.3	-	6	1117	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	DMGDH_uc011cte.1_Missense_Mutation_p.P221S|DMGDH_uc011ctf.1_Missense_Mutation_p.P170S|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	371					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)		TACGTGATAGGACCATTGACA	0.453000														65			12		0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183823942	183823942	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:183823942C>T	uc010hxr.3	+	5	1224	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	HTR3E_uc010hxq.3_Silent_p.L318L|HTR3E_uc003fml.4_Silent_p.L303L|HTR3E_uc003fmm.3_Silent_p.L333L|HTR3E_uc003fmn.3_Silent_p.L318L	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	318						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTGCCTGTCCCTGATGGTGGG	0.637000														72			13		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19171090	19171090	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:19171090G>A	uc021wle.1	-	29	4715	c.4640C>T	c.(4639-4641)gCt>gTt	p.A1547V	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.A1490V|CLTCL1_uc011agw.1_Missense_Mutation_p.A1526V|CLTCL1_uc011agt.2_Missense_Mutation_p.A338V|CLTCL1_uc011agu.2_Missense_Mutation_p.A244V	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1547	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGCCAGCTCAGCATCCCGCGA	0.597000			T	?	ALCL									39			11		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230323	39230323	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:39230323G>A	uc003cjk.2	-	1	843	c.614C>T	c.(613-615)tCc>tTc	p.S205F	XIRP1_uc003cji.3_Missense_Mutation_p.S205F|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.S205F	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	205							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGAGGGGCGGGAGCCCAGGCG	0.622000														70			9		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66631274	66631275	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:66631274_66631275GG>AA	uc001ojn.1	-	9	1387_1388	c.1338_1339CC>TT	c.(1336-1341)gccctt>gcTTtt	p.L447F	PC_uc001ojo.1_Missense_Mutation_p.L447F|PC_uc001ojp.1_Missense_Mutation_p.L447F	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	447	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AACTCCGCAAGGGCCCTGCTCA	0.658000														90			12		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35014121	35014121	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:35014121A>C	uc003jjf.3	-	9	1310	c.1067T>G	c.(1066-1068)tTt>tGt	p.F356C	AGXT2_uc003jje.1_Missense_Mutation_p.F9C|AGXT2_uc011com.2_Intron	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	356					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGCCATGGGAAAGCCATTCCC	0.522000														119			17		0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49458308	49458308	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:49458308C>T	uc002xvq.3	+	3	424	c.360C>T	c.(358-360)ttC>ttT	p.F120F	BCAS4_uc002xvr.3_Silent_p.F120F|BCAS4_uc002xvs.3_Intron	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	120						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CTCAGGCCTTCGTCAAGATGG	0.647000														33			5		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10321968	10321968	+	Silent	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:10321968A>G	uc002gmm.2	-	4	600	c.505T>C	c.(505-507)Ttg>Ctg	p.L169L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	169	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			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						TCACCAGTCAACATGAACTGA	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					136			30		0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416405	153416405	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:153416405C>T	uc004fjz.4	+	1	423	c.390C>T	c.(388-390)ggC>ggT	p.G130G		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	130					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGGAGGGCTACACCGTCT	0.602000														92			13		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669529	80669529	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:80669529C>T	uc021rxa.1	-	2	486	c.433G>A	c.(433-435)Gga>Aga	p.G145R	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.G109R|DIO2_uc010asy.3_Missense_Mutation_p.G109R	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	109					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.K145I(1)|p.R144S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CATGTGGCTCCCTCAGCTATC	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			3		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47374649	47374649	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:47374649C>T	uc003crd.3	+	4	729	c.603C>T	c.(601-603)gtC>gtT	p.V201V	KLHL18_uc003crc.2_Silent_p.V201V|KLHL18_uc011bav.2_Silent_p.V89V|KLHL18_uc010hjq.2_Silent_p.V52V	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	201	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CATGACAGGTCTTTGAAGCTG	0.592000														98			22		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852711	63852712	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:63852711_63852712CC>TT	uc001jlt.2	+	9	3945_3946	c.3489_3490CC>TT	c.(3487-3492)taccct>taTTct	p.P1164S	ARID5B_uc001jlu.2_Missense_Mutation_p.P921S	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1164					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGCATTTACCCTTTAGCTGC	0.485000														125			15		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157559173	157559173	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:157559173G>T	uc001fqw.3	-	2	264	c.128C>A	c.(127-129)aCt>aAt	p.T43N	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	43	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TCCATTGCAAGTCAGAGTCAC	0.478000														47			5		1	1	1	1	0
UBQLNL	143630	broad.mit.edu	37	11	5537108	5537108	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:5537108C>T	uc001maz.4	-	0	849	c.564G>A	c.(562-564)atG>atA	p.M188I	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	188										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACATGAACTCCATGTTGGACA	0.478000														90			12		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:127912080G>A	uc010mwv.3	-	7	1122	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.T301T(2)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000														42			4		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47086948	47086948	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:47086948G>A	uc001jee.3	+	2	584	c.165G>A	c.(163-165)ggG>ggA	p.G55G	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.G55G|PPYR1_uc021ppu.1_Silent_p.G55G	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	55					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTCGTGGGGGTCCTGGGTA	0.542000														143			6		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24483983	24483983	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:24483983G>A	uc002rfe.2	-	21	2932	c.2674C>T	c.(2674-2676)Cat>Tat	p.H892Y	ITSN2_uc002rff.2_Missense_Mutation_p.H865Y|ITSN2_uc002rfg.3_Missense_Mutation_p.H892Y	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	892					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGTCCATGAATAGGTGAT	0.338000														57			7		0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118583061	118583061	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:118583061C>T	uc002tlh.1	+	9	1506	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	469	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCACATTCTTCCAGTTCTGCA	0.433000														97			12		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490031	58490031	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:58490031T>C	uc002qqw.3	-	6	2635	c.2017A>G	c.(2017-2019)Att>Gtt	p.I673V	ZNF606_uc010yhp.2_Missense_Mutation_p.I583V	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CCAGTGTGAATTCTCCGATGA	0.408000														75			7		0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108923975	108923975	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:108923975G>A	uc001tmz.1	-	14	2094	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	SART3_uc001tmy.1_Missense_Mutation_p.P146L|SART3_uc009zux.1_Missense_Mutation_p.P232L|SART3_uc010swx.1_Missense_Mutation_p.P584L|SART3_uc010swy.1_Missense_Mutation_p.P506L|SART3_uc010swz.1_Missense_Mutation_p.P620L|SART3_uc001tna.1_Non-coding_Transcript	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	620	Required for nuclear localization.				RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GCGCTTCTCTGGGCCTCTGAT	0.453000									Porokeratosis					121			12		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174357	150174357	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:150174357C>T	uc003whj.3	+	4	1817	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	496						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.S496F(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GACACTCCTTCCTTCAACCAG	0.562000														43			7		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467980	74467980	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:74467980G>A	uc002axg.1	+	1	1063	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	ISLR_uc002axh.1_Missense_Mutation_p.G261R|ISLR_uc021sqf.1_Missense_Mutation_p.G261R	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	261	Ig-like.				cell adhesion	extracellular region		p.G261W(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGATGTGGACGGGCAGCCGGC	0.647000														78			14		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531821	7531821	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:7531821C>T	uc010sge.2	-	8	2180	c.2154G>A	c.(2152-2154)caG>caA	p.Q718Q	CD163L1_uc001qsy.3_Silent_p.Q708Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	708	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACGGCACCCTGGACATTCA	0.488000														68			7		0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593638	135593638	+	Silent	SNP	T	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:135593638T>C	uc004ezw.3	+	9	2156	c.1734T>C	c.(1732-1734)ggT>ggC	p.G578G	HTATSF1_uc004ezx.3_Silent_p.G578G	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	578	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ACGAGGAAGGTTCTGAAAAGG	0.388000														87			8		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326575	57326575	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:57326575G>A	uc002qnu.2	-	6	3586	c.3235C>T	c.(3235-3237)Cat>Tat	p.H1079Y	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.H1050Y|PEG3_uc002qnv.2_Missense_Mutation_p.H1079Y|PEG3_uc002qnw.2_Missense_Mutation_p.H955Y|PEG3_uc002qnx.2_Missense_Mutation_p.H953Y|PEG3_uc010etr.2_Missense_Mutation_p.H1079Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1079					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)		TCCTGACCATGGGTCTCCTCG	0.493000														84			8		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247275	142247275	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:142247275C>T	uc003vyd.4	-	1	206	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AACTCTGGGCCCTGCCCCAGG	0.527000														68			4		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31515220	31515220	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:31515220C>T	uc003jhg.2	-	6	1524	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	DROSHA_uc003jhh.2_Missense_Mutation_p.E352K|DROSHA_uc003jhi.2_Missense_Mutation_p.E352K|DROSHA_uc010iui.1_Missense_Mutation_p.E312K	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	389					RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGCTCTTTTTCCTTGATTGAG	0.458000														139			4		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735396	54735396	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:54735396G>A	uc003pck.3	+	1	468	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	118										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTCTTAGGGGGCACCCATAT	0.433000														84			24		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811151	5811151	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:5811151C>T	uc010ndi.3	-	6	2733	c.2269G>A	c.(2269-2271)Gat>Aat	p.D757N	NLGN4X_uc004crp.3_Missense_Mutation_p.D740N|NLGN4X_uc010ndh.3_Missense_Mutation_p.D720N|NLGN4X_uc004crq.3_Missense_Mutation_p.D720N|NLGN4X_uc004crr.3_Missense_Mutation_p.D720N|NLGN4X_uc010ndj.3_Missense_Mutation_p.D720N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	720					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGAGCGATATCATTTGTGGTG	0.522000														54			7		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99969501	99969502	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:99969501_99969502TC>AA	uc001kox.4	+	4	1980_1981	c.1630_1631TC>AA	c.(1630-1632)tct>AAt	p.S544N	C10orf28_uc001kow.4_Missense_Mutation_p.S544N|C10orf28_uc001koy.4_Missense_Mutation_p.S544N|C10orf28_uc009xvx.3_Missense_Mutation_p.S544N|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	544							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		ATTTGGTGTATCTTTTCCTGAT	0.421000														98			5		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34191063	34191063	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:34191063A>G	uc001bxm.1	-	16	2759	c.2582T>C	c.(2581-2583)gTt>gCt	p.V861A	CSMD2_uc001bxn.1_Missense_Mutation_p.V821A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	821						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)				CCCGTGGTAAACCCCGATCAA	0.537000														32			3		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62043903	62043903	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:62043903C>T	uc002jds.1	-	7	1114	c.1037_splice	c.e7-1	p.G346_splice		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	346					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTAGAAGTTCCCTTTGGGAG	0.582000														23			4		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589854	26589854	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:26589854G>A	uc001isp.2	+	15	2225	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	GAD2_uc001isq.2_Silent_p.L574L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	574					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTGACTTCCTGATTGAAGAAA	0.443000														69			12		0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58315490	58315490	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:58315490T>G	uc002rzo.2	+	8	1104	c.359T>G	c.(358-360)gTa>gGa	p.V120G	VRK2_uc010fcb.2_Missense_Mutation_p.V120G|VRK2_uc002rzt.3_Missense_Mutation_p.V2G|VRK2_uc002rzs.3_Missense_Mutation_p.V120G|VRK2_uc002rzv.3_Missense_Mutation_p.V120G|VRK2_uc010fcd.3_Missense_Mutation_p.V97G|VRK2_uc002rzu.3_Missense_Mutation_p.V120G|VRK2_uc010fcc.3_Missense_Mutation_p.V2G|VRK2_uc002rzp.3_Missense_Mutation_p.V120G|VRK2_uc010ypg.2_Missense_Mutation_p.V120G|VRK2_uc010yph.1_Missense_Mutation_p.V2G	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	120	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AGATTTATGGTAATGGAAAGA	0.328000														95			9		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29993025	29993025	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:29993025C>T	uc010bzm.2	+	7	734	c.699C>T	c.(697-699)gcC>gcT	p.A233A	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Silent_p.A233A|TAOK2_uc021tgf.1_Silent_p.A233A|TAOK2_uc002dva.2_Silent_p.A233A|TAOK2_uc002dvc.2_Silent_p.A233A|TAOK2_uc002dvd.2_Silent_p.A60A	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	233	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGATGAGTGCCTTATACCACA	0.527000														56			4		0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55687184	55687185	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:55687184_55687185CC>TT	uc002qjm.1	-	3	1492_1493	c.432_433GG>AA	c.(430-435)tcggac>tcAAac	p.D145N	SYT5_uc002qjp.2_Missense_Mutation_p.D142N|SYT5_uc002qjn.1_Missense_Mutation_p.D145N|SYT5_uc002qjo.1_Missense_Mutation_p.D145N	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	145	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACATAGGGGTCCGAGGAGCCAC	0.624000														83			7		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234346951	234346951	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:234346951G>T	uc002vui.1	+	8	1023	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	DGKD_uc002vuj.1_Missense_Mutation_p.K293N|DGKD_uc010fyh.1_Missense_Mutation_p.K204N|DGKD_uc010fyi.1_Non-coding_Transcript|DGKD_uc002vuk.1_Missense_Mutation_p.K204N	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	337	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGGGTGTGAAGTTCCTCAGAA	0.507000														109			11		0.000673444	0.000676794	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995016	140995016	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:140995016T>A	uc004fbt.3	+	3	2150	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.L268H	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	609							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCCTCTCTACTTTCCT	0.572000										HNSCC(15;0.026)				348			7		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530093	140530093	+	Silent	SNP	A	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140530093A>T	uc003lir.3	+	0	255	c.255A>T	c.(253-255)ctA>ctT	p.L85L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	85	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTACTGCTAAATGAAAAAC	0.517000														98			7		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27165450	27165450	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:27165450C>T	uc002rhu.4	+	10	1430	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	DPYSL5_uc002rhv.4_Silent_p.F424F|DPYSL5_uc021vev.1_Silent_p.F424F	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	424					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAGACTTCAACCTGTATG	0.617000											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			3		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62984833	62984833	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:62984833G>A	uc001nwr.1	-	3	783	c.783C>T	c.(781-783)ctC>ctT	p.L261L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.L261L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	261					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCACCAACTGGAGGATGCACT	0.438000														24			8		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39115076	39115076	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:39115076G>A	uc002hvo.1	-	6	1289	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	KRT39_uc010wfm.1_Missense_Mutation_p.P151L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	418	Tail.					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)				CCAAGGGGAAGGCTCACATTT	0.512000														64			8		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:55539327G>A	uc003xsd.1	+	3	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	962					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)			ACAAATTCTGGAAAAATAAGT	0.313000														79			9		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78485862	78485862	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:78485862C>T	uc002bdh.3	-	4	855	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	ACSBG1_uc010umx.2_Intron|ACSBG1_uc010umw.2_Missense_Mutation_p.E213K|ACSBG1_uc010umy.2_Missense_Mutation_p.E110K	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	217					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGGATCTTTTCCAGCTGCTTC	0.582000														71			10		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827110	96827110	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:96827110G>A	uc001kkb.3	-	2	431	c.336C>T	c.(334-336)atC>atT	p.I112I	CYP2C8_uc010qoa.2_Silent_p.I42I|CYP2C8_uc010qoc.2_Silent_p.I10I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.I26I|CYP2C8_uc021pwl.1_Silent_p.I42I|CYP2C8_uc010qod.1_Silent_p.I26I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	112					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)	TGCTGGAAATGATTCCTAATA	0.488000														42			6		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908950	38908950	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:38908950C>T	uc021wvy.1	-	23	4013	c.3814_splice	c.e23-1	p.K1272_splice		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1272					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTTGTTCTTTCTGTTAGAAAT	0.333000														48			8		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161811	57161811	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:57161811G>A	uc001cyk.4	+	5	838	c.767G>A	c.(766-768)cGa>cAa	p.R256Q		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	256	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CCACTGAAACGAGCAACTATC	0.373000														179			8		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288828	107288828	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:107288828G>A	uc011lvn.2	-	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGGTGTAGAGGATGAACATAT	0.413000														122			14		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762145	101762145	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:101762145A>T	uc001pgl.3	-	8	1628	c.1032T>A	c.(1030-1032)aaT>aaA	p.N344K		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	344	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)		GATGAATGCCATTTAGATTTG	0.458000														113			5		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118268	118268	+	RNA	SNP	G	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrGL000205.1:118268G>C	uc002kgk.4	+	0		c.1646G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAACCAGCAAGAAATTCATCC	0.512000														18			3		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78774027	78774027	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:78774027G>A	uc004akc.2	+	11	2097	c.1559G>A	c.(1558-1560)gGa>gAa	p.G520E	PCSK5_uc004ajy.2_Missense_Mutation_p.G520E|PCSK5_uc004ajz.3_Missense_Mutation_p.G520E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	520	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCAGGAGAGGAGACCTGGCC	0.567000														52			6		0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31722561	31722561	+	Silent	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr13:31722561A>G	uc001utl.3	-	8	1471	c.1200T>C	c.(1198-1200)gtT>gtC	p.V400V	HSPH1_uc001utj.3_Silent_p.V398V|HSPH1_uc001utk.3_Silent_p.V398V|HSPH1_uc010aaw.3_Silent_p.V357V|HSPH1_uc010tds.2_Silent_p.V322V	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	398					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGGAAAAGGAACTGCATCTG	0.333000														75			6		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39213377	39213377	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:39213377G>A	uc002rrk.4	-	22	3631	c.3590C>T	c.(3589-3591)tCa>tTa	p.S1197L	SOS1_uc002rrj.4_Missense_Mutation_p.S796L	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	1197					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTCTGATATTGAATATCGTGG	0.453000									Noonan syndrome					100			13		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322867	55322867	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:55322867C>T	uc010rig.2	+	0	1085	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATGGTGGTTTCTGATGAGAAA	0.313000										HNSCC(20;0.049)				29			12		0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043126	153043126	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:153043126C>T	uc003qpc.4	+	1	454	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	149						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CGACAAGCTTCCCTGGAACAA	0.498000														84			9		0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044187	163044187	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:163044187C>T	uc001gcl.4	+	5	1075	c.746C>T	c.(745-747)gCc>gTc	p.A249V	RGS4_uc009wuy.3_Missense_Mutation_p.A152V|RGS4_uc009wuz.3_3'UTR|RGS4_uc009wva.3_Missense_Mutation_p.A134V	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	152					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTTGATGAGGCCCAGAAGAAG	0.517000														376			17		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860793	860793	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:860793G>A	uc003gbm.4	-	20	3022	c.2823C>T	c.(2821-2823)gcC>gcT	p.A941A	GAK_uc003gbn.4_Silent_p.A862A|GAK_uc010ibk.1_Silent_p.A835A|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.A805A	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	941					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCAGGGGAGGGGCCGGGCTTG	0.677000														87			9		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255781	15255781	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:15255781G>A	uc001iob.3	-	7	1813	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	602						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CAGCCGGGACGACGAGGGGCT	0.567000														76			5		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167671	28167671	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:28167671A>G	uc002dpa.1	-	6	1322	c.821T>C	c.(820-822)aTc>aCc	p.I274T	XPO6_uc002dpb.1_Missense_Mutation_p.I260T|XPO6_uc010vcp.1_Missense_Mutation_p.I274T	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	274					protein export from nucleus		protein binding|protein transporter activity	p.I274V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAAGTGGAAGATGGTGGTAAG	0.567000														83			4		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	189038588	189038588	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:189038588C>T	uc003frv.2	+	10	2034	c.807C>T	c.(805-807)gcC>gcT	p.A269A	TPRG1_uc003frw.2_Silent_p.A269A	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	269										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATTCCCTTGCCCGTGGGAGTA	0.413000														22			5		0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798162	21798162	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:21798162C>T	uc001ber.3	+	4	897	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	NBPF3_uc001bes.3_Missense_Mutation_p.L127F|NBPF3_uc009vqb.3_Missense_Mutation_p.L183F|NBPF3_uc010odm.2_Missense_Mutation_p.L113F	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	183						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAATCAGCATCTCCAGGCCCT	0.572000														88			12		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976644	55976644	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:55976644C>T	uc003has.3	-	8	1483	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	KDR_uc003hat.1_Missense_Mutation_p.G394E|KDR_uc011bzx.2_Missense_Mutation_p.G394E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	394	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGTAATTTCCTGTGTCTCT	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				65			8		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823932	114823932	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:114823932G>A	uc003ibq.1	-	1	2186	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	ARSJ_uc010imu.1_Missense_Mutation_p.S433F|ARSJ_uc010imv.1_Missense_Mutation_p.S261F	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	433						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TGCTGCCCAGGAGCCATTTTT	0.498000														79			11		0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31049305	31049305	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:31049305C>T	uc002eal.3	+	5	661	c.437C>T	c.(436-438)tCc>tTc	p.S146F	STX4_uc002eak.3_Missense_Mutation_p.S144F|STX4_uc002eam.3_Missense_Mutation_p.S68F	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	146					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TCAATGCAGTCCGAATACCGG	0.557000														43			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403904	179403904	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:179403904G>A	uc021vsy.1	-	301	91279	c.91054C>T	c.(91054-91056)Cgg>Tgg	p.R30352W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R24047W|TTN_uc021vta.1_Missense_Mutation_p.R23980W|TTN_uc021vtb.1_Missense_Mutation_p.R23855W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31279	Fibronectin type-III 121.						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)			TCTTTGGGCCGGGACCAGGAC	0.473000														54			9		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16354929	16354929	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:16354929G>A	uc002wpg.2	-	19	3482	c.3323C>T	c.(3322-3324)tCa>tTa	p.S1108L	KIF16B_uc002wpe.1_Missense_Mutation_p.S490L|KIF16B_uc002wpf.1_Missense_Mutation_p.S490L|KIF16B_uc010gch.2_Intron|KIF16B_uc010gci.2_Missense_Mutation_p.S1108L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1108				S -> L (in Ref. 6; AAH34984).	Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AACCAGGTGTGATTTTTCAGC	0.458000														54			5		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686787	112686787	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:112686787T>A	uc002thk.1	+	1	274	c.152T>A	c.(151-153)tTa>tAa	p.L51*	MERTK_uc002thl.1_5'UTR|Metazoa_SRP_uc021vmv.1_5'Flank	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	51					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACACCGCTGTTATCCCTTCCT	0.547000														45			7		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79627472	79627472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:79627472C>T	uc003ybd.3	+	7	823	c.721C>T	c.(721-723)Cga>Tga	p.R241*		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	241																	TGTCAAACCCCGAAATTCCAC	0.363000														44			13		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103279436	103279436	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr13:103279436C>T	uc001vpi.4	+	6	962	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	287					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGGTAGCTCCTGGTGCTCA	0.463000														96			14		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545691	82545691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:82545691G>A	uc003uhx.2	-	6	11900	c.11611C>T	c.(11611-11613)Caa>Taa	p.Q3871*	PCLO_uc003uhv.2_Nonsense_Mutation_p.Q3871*|PCLO_uc010lec.3_Nonsense_Mutation_p.Q836*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3802	Gln-rich.				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						GTTTGGGTTTGTGGTGGTATA	0.478000														384			13		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7803628	7803628	+	Silent	SNP	T	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:7803628T>C	uc002gjd.2	+	16	2882	c.2880T>C	c.(2878-2880)ggT>ggC	p.G960G	CHD3_uc002gje.2_Silent_p.G901G|CHD3_uc002gjf.2_Silent_p.G901G	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	901					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTCTCAATGGTTACAAGATAG	0.468000														89			4		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140354	104140354	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:104140354C>T	uc001kux.2	+	37	5375	c.5081C>T	c.(5080-5082)cCc>cTc	p.P1694L	GBF1_uc001kuy.2_Missense_Mutation_p.P1690L|GBF1_uc001kuz.2_Missense_Mutation_p.P1691L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1694					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGAGGCGGCCCCTCGGCCCTC	0.577000														316			43		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31657762	31657762	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:31657762G>A	uc002wym.1	+	11	1217	c.1217_splice	c.e11+1	p.R406_splice		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	406					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CCCTGGAACGGTAACTTGGGA	0.562000														154			22		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132440125	132440125	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:132440125A>C	uc004exc.1	-	4	1147	c.935T>G	c.(934-936)aTg>aGg	p.M312R	GPC4_uc011mvg.1_Missense_Mutation_p.M242R	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	312					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GATGGGATCCATGACCGATTC	0.428000														110			16		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171504724	171504724	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:171504724C>T	uc010pmg.2	+	12	2291	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	675	Gln-rich.						protein C-terminus binding										CTCCACGATTCCAGCGGCAGC	0.393000														159			17		0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27120996	27120996	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:27120996C>T	uc001bmz.3	+	2	834	c.471C>T	c.(469-471)ctC>ctT	p.L157L	PIGV_uc001bna.3_Silent_p.L157L|PIGV_uc010ofg.2_Intron	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	157					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TTTTCTGTCTCAGCCCTGCCA	0.532000														52			14		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004287	75004287	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:75004287C>T	uc004ecj.2	-	0	793	c.600G>A	c.(598-600)tgG>tgA	p.W200*		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	200	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAAGTCCCAAATGGAGG	0.512000														63			9		0	0	1	0	0
LCORL	254251	broad.mit.edu	37	4	17910842	17910842	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:17910842G>A	uc021xmr.1	-	4	666	c.557C>T	c.(556-558)tCa>tTa	p.S186L	LCORL_uc021xmq.1_Missense_Mutation_p.S102L|LCORL_uc003gpq.3_Missense_Mutation_p.S186L|LCORL_uc011bxk.2_Missense_Mutation_p.S99L	NM_001166139	NP_001159611	Q8N3X6	LCORL_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor-like (LCORL), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGGTCCAATTGAACCATTTCT	0.378000														56			5		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46287928	46287928	+	Silent	SNP	C	T	T	rs139271263		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:46287928C>T	uc002ldd.3	+	9	1604	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	CTIF_uc002ldc.3_Silent_p.I413I|CTIF_uc002lde.4_Silent_p.I42I	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	413	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.R415P(1)|p.R415L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TGGGCGAGATCGTGCGCACAA	0.597000														52			4		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122157	46122157	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:46122157C>T	uc001jcp.4	-	6	1356	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.G372R|ZFAND4_uc009xmu.3_Missense_Mutation_p.G298R|ZFAND4_uc001jcn.4_Missense_Mutation_p.G298R|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	372							zinc ion binding										GGCAAGTTTCCTAAAAAATGT	0.438000														68			12		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97770818	97770818	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:97770818C>T	uc003upd.2	+	2	634	c.341C>T	c.(340-342)tCa>tTa	p.S114L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	114					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAATATTTCACTCCCAGCT	0.453000														149			12		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10080598	10080598	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:10080598C>T	uc002mmq.1	-	55	4023	c.3937_splice	c.e55-1	p.G1313_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1313	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)			CCTGAAGGACCCTTGGAAGGG	0.612000														65			8		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101639890	101639890	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:101639890G>A	uc001kqj.2	-	15	4318	c.4226C>T	c.(4225-4227)cCg>cTg	p.P1409L	DNMBP_uc010qpl.1_Missense_Mutation_p.P345L|DNMBP_uc001kqg.2_Missense_Mutation_p.P697L|DNMBP_uc001kqh.2_Missense_Mutation_p.P1041L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1409	Ser-rich.				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)		TTCTTTTGGCGGAGGAGATGC	0.547000														133			18		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394656	86394656	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:86394656G>A	uc003uid.3	+	1	1294	c.195G>A	c.(193-195)ggG>ggA	p.G65G	GRM3_uc010lef.3_Silent_p.G63G|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	65					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAGACCGAGGGATTCAACGCC	0.413000														95			10		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149553	70149553	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:70149553G>A	uc004dyn.3	-	1	469	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	SLC7A3_uc004dyo.3_Missense_Mutation_p.L99F	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	99					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TAGCTGTAGAGATATGCCGAA	0.557000														13			4		0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116135985	116135985	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:116135985A>C	uc022bme.1	-	0	650	c.650T>G	c.(649-651)cTg>cGg	p.L217R	HDHD3_uc004bhi.1_Missense_Mutation_p.L217R|HDHD3_uc004bhk.3_Missense_Mutation_p.L217R	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	217							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CACGGGGTCCAGTGCCTGTGG	0.602000														52			5		0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823220	70823220	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:70823220C>T	uc003hes.4	-	4	460	c.447G>A	c.(445-447)ttG>ttA	p.L149L	CSN2_uc003het.4_Silent_p.L148L	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	149				L -> S (in Ref. 6; AA sequence).	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CCTGCTGCATCAAGGGCTGGA	0.522000														31			10		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90260089	90260089	+	RNA	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:90260089A>G	uc010yts.2	+	40		c.5357A>G								Parts of antibodies, mostly variable regions.																		AACCAGGGAAAGCCCCTGAGC	0.498000														146			28		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21150466	21150466	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:21150466C>T	uc002zsz.4	-	17	2332	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	691					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTGCCCTCTCGCTGGCTCGC	0.587000														29			6		0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44892893	44892893	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:44892893G>A	uc003beu.1	-	1	881	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	LDOC1L_uc021wrd.1_Missense_Mutation_p.R182W	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1-like (LDOC1L), mRNA.	182								p.R182W(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGCGCATGCCGGAGCGGAGAC	0.622000														27			18		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196648872	196648872	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:196648872G>A	uc001gtj.4	+	5	979	c.739G>A	c.(739-741)Gga>Aga	p.G247R	CFH_uc001gti.4_Missense_Mutation_p.G247R|CFH_uc009wyw.3_Missense_Mutation_p.G247R|CFH_uc009wyx.3_Missense_Mutation_p.G183R	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	247	Sushi 4.				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						CAGTGAAAGAGGAGATGCTGT	0.323000														28			4		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983156	97983156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:97983156C>T	uc003dsi.1	+	0	28	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTTCATTTTTCAGAGGACATG	0.383000														72			6		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61842455	61842455	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:61842455A>T	uc001jky.3	-	33	4579	c.4241T>A	c.(4240-4242)tTt>tAt	p.F1414Y	ANK3_uc001jkw.3_Missense_Mutation_p.F548Y|ANK3_uc009xpa.3_Missense_Mutation_p.F548Y|ANK3_uc001jkx.3_Missense_Mutation_p.F592Y|ANK3_uc010qih.2_Missense_Mutation_p.F1415Y|ANK3_uc001jkz.4_Missense_Mutation_p.F1408Y|ANK3_uc001jla.1_Missense_Mutation_p.F480Y|ANK3_uc001jkv.3_5'UTR|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1414					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						TTCTTTCAGAAAAGACAGACG	0.388000														90			14		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163900	150163900	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:150163900C>T	uc003whj.3	+	1	444	c.114C>T	c.(112-114)tcC>tcT	p.S38S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	38						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTTCAAGTCCAAGTTCAGTG	0.507000														111			14		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711355	155711355	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:155711355C>T	uc002tyv.1	+	2	1231	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	346					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTCCCAGTTCCATGCAACATT	0.418000														57			9		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255030	3255030	+	Missense_Mutation	SNP	C	T	T	rs111369312		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:3255030C>T	uc010uwu.2	+	0	784	c.784C>T	c.(784-786)Cct>Tct	p.P262S		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GTATTTTAACCCTCTGTCCTC	0.493000														139			23		0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843440	227843440	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:227843440G>A	uc021pjy.1	+	3	1830	c.1654G>A	c.(1654-1656)Ggt>Agt	p.G552S	ZNF678_uc001hqw.2_Missense_Mutation_p.G497S|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	552					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATGTGGAAAAGGTTTTTACCA	0.353000														25			3		0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97731240	97731240	+	RNA	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:97731240C>T	uc021xbo.1	-	4		c.595G>A			GABRR3_uc021xbp.1_Non-coding_Transcript	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						ATGATATTCTCCATAGTTGTA	0.448000														39			6		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64017527	64017527	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:64017527A>G	uc002amp.3	-	17	3680	c.3532T>C	c.(3532-3534)Ttc>Ctc	p.F1178L	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1178					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCGTCACTGAACAGTGGCGTT	0.473000														39			7		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33138364	33138364	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:33138364C>T	uc003ocx.1	-	46	3726	c.3498G>A	c.(3496-3498)gaG>gaA	p.E1166E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.E1080E|COL11A2_uc003ocz.1_Silent_p.E1059E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1166	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTTCTCCCTTCTCCCCAGAGG	0.607000														58			4		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914599	54914599	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:54914599C>T	uc021smr.1	+	28	6175	c.6175C>T	c.(6175-6177)Cat>Tat	p.H2059Y	UNC13C_uc021sms.1_Missense_Mutation_p.H2061Y|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2061	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2059R(1)		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)		AACGGGAGATCATAAAGTCAC	0.438000														75			8		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853485	2853485	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:2853485C>T	uc002lwo.3	+	3	1560	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	ZNF555_uc002lwn.4_Silent_p.H473H	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TGAGAATGCACCCTGAAGACA	0.408000														56			5		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226605	149226605	+	Missense_Mutation	SNP	C	T	T	rs147106585		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:149226605C>T	uc002twm.4	+	8	2090	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	365	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGACCCTATTCCTAGTAAACC	0.458000														124			15		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92258768	92258768	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:92258768G>A	uc001xzu.4	-	8	1181	c.990C>T	c.(988-990)acC>acT	p.T330T	TC2N_uc001xzt.4_Silent_p.T330T|TC2N_uc010auc.3_Intron|TC2N_uc001xzv.4_Silent_p.T330T	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	330						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GTGTGCTAAGGGTTCTGAGTG	0.338000														86			12		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121707234	121707234	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:121707234C>T	uc003ees.3	-	7	1824	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	ILDR1_uc003eeq.3_Missense_Mutation_p.G509R|ILDR1_uc003eer.3_Missense_Mutation_p.G497R|ILDR1_uc010hrg.3_Missense_Mutation_p.G452R	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	541						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ACACTCCTTCCACTATGAGAG	0.448000														69			10		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564974	179564974	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:179564974C>T	uc003mlq.3	-	0	376	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	RASGEF1C_uc003mlr.3_Missense_Mutation_p.E27K|RASGEF1C_uc003mlp.4_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	27					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCCTGTTCGCCATCTGTG	0.652000														48			8		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531843	7531843	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:7531843C>T	uc010sge.2	-	8	2158	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	CD163L1_uc001qsy.3_Missense_Mutation_p.G701E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	701	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCAACTTTTCCAGCACACCT	0.478000														55			6		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151055765	151055765	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:151055765T>A	uc003eyw.1	-	1	1085	c.869A>T	c.(868-870)aAt>aTt	p.N290I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.N290I|P2RY12_uc021xga.1_Missense_Mutation_p.N290I	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	290					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CAGGCATGCATTTAAGGAAGT	0.433000														91			19		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99150185	99150185	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:99150185G>A	uc001knf.3	-	5	887	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	RRP12_uc009xvm.3_Missense_Mutation_p.P56S|RRP12_uc010qou.2_Missense_Mutation_p.P189S|RRP12_uc009xvn.3_Intron	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	250						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTCACCTTGGGCTTGGGATGC	0.622000														36			4		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427124	10427124	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:10427124G>A	uc010coi.3	-	35	5381	c.5253C>T	c.(5251-5253)ctC>ctT	p.L1751L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.L1751L|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.	1751					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						GGGCTTCCTGGAGAATGTCCT	0.448000														91			9		0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024221	71024222	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:71024221_71024222CC>TT	uc003hfa.4	+	3	325_326	c.252_253CC>TT	c.(250-255)ttcccc>ttTTcc	p.P85S	C4orf40_uc003hfb.4_Missense_Mutation_p.P85S	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	85						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTGGATTCCCCTATGTCTA	0.470000														190			15		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	113002394	113002394	+	Silent	SNP	G	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:113002394G>C	uc003dzx.3	+	15	3189	c.2568G>C	c.(2566-2568)ctG>ctC	p.L856L	BOC_uc003dzy.3_Silent_p.L856L|BOC_uc003dzz.3_Silent_p.L857L|BOC_uc003eab.3_Silent_p.L557L|BOC_uc003eac.3_Silent_p.L171L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	856					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)			TGCCCTATCTGATTGTCGGGG	0.622000														97			22		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147193	77147193	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:77147193C>T	uc011bgk.2	+	1	733	c.90C>T	c.(88-90)ccC>ccT	p.P30P	ROBO2_uc021xat.1_Silent_p.P46P|ROBO2_uc003dpy.4_Silent_p.P30P|ROBO2_uc003dpz.3_Silent_p.P30P|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.	30					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			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)		AGGACTTTCCCCCGCGGATTG	0.537000														22			4		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156876099	156876099	+	Silent	SNP	T	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:156876099T>A	uc001fqj.1	+	4	455	c.339T>A	c.(337-339)cgT>cgA	p.R113R	PEAR1_uc009wsl.1_5'UTR|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	113	EGF-like 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCATGGCCGTTGTGTGGCAC	0.617000														59			10		0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954612	72954612	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:72954612G>A	uc010uks.1	+	10	908	c.867G>A	c.(865-867)gcG>gcA	p.A289A	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	289								p.A289A(2)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537000														34			4		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237025	42237025	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:42237025C>T	uc003ose.2	-	4	867	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	TRERF1_uc011duq.1_Missense_Mutation_p.A102T|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.A102T	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	102					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTGAGTTGGCCAGGTTTCCA	0.582000														210			10		0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348866	122348866	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:122348866G>A	uc001lev.1	+	6	1020	c.668G>A	c.(667-669)aGa>aAa	p.R223K	PPAPDC1A_uc009xzl.1_Missense_Mutation_p.R160K|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Missense_Mutation_p.D73N|PPAPDC1A_uc001ley.1_Missense_Mutation_p.R102K	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	223					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATTTGCTACAGACAGCACTAT	0.493000														113			7		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554593	44554593	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:44554593C>T	uc010xdb.2	-	0	1857	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.G541R(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GAGAATCTTCCCTTGTAGTCT	0.577000														165			5		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705382	50705382	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:50705382G>A	uc002lfe.2	+	8	2085	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	DCC_uc010xdr.1_Missense_Mutation_p.G338E|DCC_uc010dpf.2_Missense_Mutation_p.G145E	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	490	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V489L(1)		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)		CTCACTGTGGGAAACCTGAAG	0.478000														43			8		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141789475	141789475	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:141789475C>T	uc003iio.1	-	6	1911	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	RNF150_uc010iok.1_Silent_p.E377E	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	419						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACAGTCCAACCTCCATTGCCA	0.468000														47			4		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36577688	36577688	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:36577688C>T	uc002odd.2	+	12	1833	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	WDR62_uc002odc.2_Missense_Mutation_p.S581F	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	581					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACCACTCCTCCTCCATCACC	0.567000														9			4		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800747	27800747	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:27800747C>T	uc002rkz.4	+	0	1359	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	436										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGTAGAGCTCACCTCTGAGG	0.468000														71			6		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622108	234622108	+	Silent	SNP	C	T	T	rs146711966	byFrequency	TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:234622108C>T	uc002vuw.3	+	0	471	c.471C>T	c.(469-471)tgC>tgT	p.C157C	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.C157C	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	156					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)	TTCACCTCTGCGCGGCGGTGC	0.488000														178			5		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842500	150842500	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:150842500C>T	uc004fev.4	+	14	2349	c.2017C>T	c.(2017-2019)Ccc>Tcc	p.P673S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	673						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGTTTCCCATAACTTC	0.488000														116			13		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647312	38647312	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:38647312G>A	uc010qex.1	+	1	183	c.108G>A	c.(106-108)agG>agA	p.R36R	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc010qew.1_Silent_p.R36R|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.R36R					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TGGCGTGCAGGAATATGAGCA	0.557000														22			3		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932731	49932731	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:49932731G>A	uc003cxy.4	-	13	3404	c.3140C>T	c.(3139-3141)tCc>tTc	p.S1047F	MST1R_uc011bdc.2_Missense_Mutation_p.S998F	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1047					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGCACACAGGATTCATCTTC	0.557000														105			26		0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63195720	63195720	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:63195720G>T	uc001srk.3	-	2	781	c.632C>A	c.(631-633)tCc>tAc	p.S211Y		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	211	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCCGCGCAGGGAGGCTGCCCG	0.687000														87			6		0.000274275	0.000276327	1	1	0
FZD2	2535	broad.mit.edu	37	17	42636342	42636342	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:42636342C>T	uc002igx.2	+	0	1531	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	429					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATCGGCACGTCCTTCCTCCTG	0.637000														108			12		0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26407991	26407991	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:26407991C>T	uc003nhv.3	+	3	894	c.526C>T	c.(526-528)Caa>Taa	p.Q176*	BTN3A1_uc011dkj.2_Nonsense_Mutation_p.Q176*|BTN3A1_uc010jqj.3_Nonsense_Mutation_p.Q176*|BTN3A1_uc011dkk.2_Intron	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	176	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCCCCAACCCCAAATACAGTG	0.537000														58			22		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42853729	42853729	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:42853729C>T	uc002otl.4	+	12	2811	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	MEGF8_uc002otm.4_Missense_Mutation_p.P334S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	793						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGCCTCTTCCCTCTGCCTGG	0.652000														59			12		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46346011	46346011	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:46346011C>T	uc010haa.2	-	1	226	c.99G>A	c.(97-99)gtG>gtA	p.V33V	WNT7B_uc003bgo.2_Silent_p.V29V	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	29					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.G33R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGGCCACCACGGATGACA	0.647000														24			4		0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:47599133C>T	uc001nfx.3	-	1	590	c.419G>A	c.(418-420)cGc>cAc	p.R140H	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Missense_Mutation_p.R165H|KBTBD4_uc001nfz.3_Missense_Mutation_p.R156H|KBTBD4_uc001nfy.3_Missense_Mutation_p.R140H|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	140								p.R140H(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517000														140			4		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42509070	42509070	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:42509070G>A	uc003gwr.2	-	22	2281	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Silent_p.I668I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	683					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			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)	CCCCTGTAAGGATCCAGATTT	0.378000														133			9		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25766067	25766067	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:25766067A>T	uc003xes.2	-	6	821	c.556T>A	c.(556-558)Ttt>Att	p.F186I	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	186					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AATTTTAAAAAGAATCTGTGA	0.373000														46			6		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128179007	128179007	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:128179007C>T	uc002tol.3	+	2	309	c.282C>T	c.(280-282)ttC>ttT	p.F94F	PROC_uc002tok.3_Silent_p.F73F|PROC_uc010yzi.2_Silent_p.F94F|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Silent_p.F94F	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	73					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGGAAATTTTCCAAAATGTGG	0.587000														30			3		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53842755	53842755	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:53842755C>T	uc003dgv.4	+	45	5992	c.5829C>T	c.(5827-5829)ttC>ttT	p.F1943F	CACNA1D_uc003dgu.4_Silent_p.F1963F|CACNA1D_uc003dgy.4_Silent_p.F1919F|CACNA1D_uc003dgw.4_Silent_p.F1610F|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1943					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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)	CTCCCATCTTCCCCCATCGCA	0.637000														65			14		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40366957	40366957	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:40366957G>T	uc003ayh.2	+	7	1125	c.862G>T	c.(862-864)Gac>Tac	p.D288Y	GRAP2_uc011aom.2_Missense_Mutation_p.D262Y|GRAP2_uc011aon.2_Missense_Mutation_p.D222Y|GRAP2_uc010gya.2_Missense_Mutation_p.D288Y|GRAP2_uc011aoo.2_Missense_Mutation_p.D216Y|GRAP2_uc011aop.2_Missense_Mutation_p.D248Y|GRAP2_uc011aoq.2_Missense_Mutation_p.D175Y|GRAP2_uc003ayj.2_Missense_Mutation_p.D288Y	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	288	SH3 2.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGGAGGATGACGAGCTGGG	0.657000														84			9		6.42651e-13	6.55634e-13	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134072586	134072586	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:134072586C>T	uc003iha.3	+	0	2117	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.L431L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		CTCCTACACCCTGACTGTAGT	0.592000														243			21		0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924753	109924753	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:109924753C>T	uc004eou.4	-	9	1462	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	CHRDL1_uc004eov.3_Silent_p.E360E|CHRDL1_uc004eow.3_Silent_p.E369E|CHRDL1_uc010nps.3_Silent_p.E370E|CHRDL1_uc011mss.2_Silent_p.E291E	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	363					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAGGTGGTCTCTCAGTCTCCA	0.458000														94			16		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529798	80529798	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:80529798C>T	uc021vjt.1	-	0	1147	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.D383N	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	383						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCCCCAGATCACTGCGGTTG	0.726000										HNSCC(69;0.2)				27			7		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058503	56058503	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:56058503G>A	uc010rje.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					CCGTAAGGATGAAGTCAGGCA	0.388000														70			11		0	0	1	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085163	153085163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:153085163G>A	uc001fbi.3	-	1	106	c.47C>T	c.(46-48)cCt>cTt	p.P16L	SPRR2A_uc001fbf.3_Intron|SPRR2F_uc021ozt.1_Missense_Mutation_p.P16L	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	Homo sapiens small proline-rich protein 2F (SPRR2F), mRNA.	16					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	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)			GGGGCACACAGGAGGTGGCTG	0.577000														143			10		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32024404	32024404	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:32024404C>T	uc003nzl.2	-	22	8304	c.8102G>A	c.(8101-8103)gGt>gAt	p.G2701D		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2761	Fibronectin type-III 19.				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						GCGCTGGCCACCGTGGAAGCC	0.647000														34			9		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51089141	51089141	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:51089141A>T	uc001rwv.3	+	14	1967	c.1811A>T	c.(1810-1812)aAa>aTa	p.K604I	DIP2B_uc009zlt.3_Missense_Mutation_p.K34I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	604						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CATGCTCACAAAGGTAGTCAC	0.398000														134			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13824412	13824412	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:13824412G>A	uc003jfd.2	-	38	6517	c.6475C>T	c.(6475-6477)Ctg>Ttg	p.L2159L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2159	AAA 1 (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)					AGAACTGACAGAATGTTACGC	0.418000									Kartagener syndrome					60			7		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728780	51728780	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:51728780C>T	uc002pwa.2	+	1	384	c.344C>T	c.(343-345)tCa>tTa	p.S115L	CD33_uc010eos.1_Missense_Mutation_p.S115L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	115	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GATAATGGTTCATACTTCTTT	0.532000														70			10		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	C	C	rs79807294	by1000genomes	TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:71347185T>C	uc011cat.2	+	3	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_uc011cau.2_Missense_Mutation_p.S242P|MUC7_uc003hfj.3_Missense_Mutation_p.S242P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000														157			4		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235215	87235215	+	Missense_Mutation	SNP	T	C	C	rs149413280	byFrequency	TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:87235215T>C	uc003ydq.1	-	1	901	c.803A>G	c.(802-804)gAa>gGa	p.E268G	SLC7A13_uc003ydr.1_Missense_Mutation_p.E259G	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	268						integral to membrane	amino acid transmembrane transporter activity	p.E268K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGAGAGAATTTCCCTGGGTGT	0.383000														111			10		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110026626	110026626	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:110026626G>A	uc001dxr.3	+	0	66	c.51G>A	c.(49-51)cgG>cgA	p.R17R		NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	17										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		tggagcggcggGTGCCGAGTC	0.746000														9			3		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524694	37524694	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:37524694G>A	uc003aqv.1	-	9	1229	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	366					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGAGGTGGAAGAAGAAGTAAC	0.587000														41			17		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87728918	87728918	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:87728918C>T	uc003hpz.3	+	44	7431	c.6951C>T	c.(6949-6951)atC>atT	p.I2317I	PTPN13_uc003hpy.3_Silent_p.I2322I|PTPN13_uc003hqa.3_Silent_p.I2298I|PTPN13_uc003hqb.3_Silent_p.I2126I	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2317	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGAAAAAATCAAATGCCAGC	0.468000														126			18		0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7310170	7310170	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:7310170C>T	uc003mxf.4	-	1	360	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_003144	NP_003135	P43307	SSRA_HUMAN	Homo sapiens signal sequence receptor, alpha (SSR1), mRNA.	58					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					GGTTCATCTTCTTCTACCTCG	0.343000														77			19		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628885	71628885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:71628885C>T	uc004agy.3	-	0	155	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	42					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCGAACTGATCCGAGCTGGCG	0.612000														40			7		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215812177	215812177	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:215812177G>A	uc002vew.3	-	47	7428	c.7208C>T	c.(7207-7209)gCc>gTc	p.A2403V	ABCA12_uc002vev.3_Missense_Mutation_p.A2085V|ABCA12_uc010zjn.2_Missense_Mutation_p.A1330V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2403	ABC transporter 2.				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)		CCCTATCAAGGCCAGTGCAGT	0.408000														100			13		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45950945	45950945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:45950945C>T	uc002zfe.1	-	3	680	c.614G>A	c.(613-615)aGa>aAa	p.R205K	TSPEAR_uc010gpv.1_Missense_Mutation_p.R137K	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	205	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCCTTTGGCTCTCCTCCGGCT	0.582000														19			3		0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722746	145722746	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:145722746G>A	uc003zdd.3	+	1	1082	c.169G>A	c.(169-171)Gag>Aag	p.E57K	AK094577_uc003zde.1_Missense_Mutation_p.S123F|PPP1R16A_uc003zdf.3_Missense_Mutation_p.E57K	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	57				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCCCGGAAGGAGGCAGCCAG	0.647000														29			6		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516835	157516835	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:157516835C>T	uc009wsm.3	-	2	363	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	FCRL5_uc001fqu.3_Missense_Mutation_p.E69K|FCRL5_uc010phv.1_Missense_Mutation_p.E69K|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.E69K|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	69	Ig-like C2-type 1.					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)				TCTGGGGTTTCTCTTAGTATT	0.488000														68			6		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184075410	184075410	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:184075410C>T	uc003foi.3	-	6	894	c.770G>A	c.(769-771)gGa>gAa	p.G257E	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Missense_Mutation_p.G257E|CLCN2_uc011brl.2_Missense_Mutation_p.G257E|CLCN2_uc011brm.2_Missense_Mutation_p.G213E|CLCN2_uc011brn.1_Missense_Mutation_p.G257E	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	257						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCCTACCTCCAATAGGTGC	0.647000														67			16		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878334	28878334	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:28878334G>A	uc002dri.3	+	3	1358	c.919G>A	c.(919-921)Gag>Aag	p.E307K	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Missense_Mutation_p.E307K|SH2B1_uc002drk.3_Missense_Mutation_p.E307K|SH2B1_uc002drl.3_Missense_Mutation_p.E307K|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Missense_Mutation_p.E307K|SH2B1_uc002drm.3_Missense_Mutation_p.E307K	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	307	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AAGTCGCCTGGAGTTCTTTGT	0.602000														49			5		0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207827333	207827333	+	Missense_Mutation	SNP	G	A	A	rs150008911		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:207827333G>A	uc002vby.2	+	6	818	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	258					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TAACCACCCAGAAATGGTGAG	0.443000														53			10		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41807520	41807520	+	Missense_Mutation	SNP	C	T	T	rs149392942		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:41807520C>T	uc002oqb.4	+	10	1887	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	HNRNPUL1_uc002opz.4_Missense_Mutation_p.P433L|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.P433L|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.P533L|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.P419L|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.P433L|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.P433L|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.P433L|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.P389L|HNRNPUL1_uc002oqf.4_5'Flank	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	533	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding	p.P533L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GTAATTTGTCCCACTGACGAG	0.448000														114			16		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145317513	145317513	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:145317513G>A	uc003lnt.3	+	1	260	c.22G>A	c.(22-24)Gat>Aat	p.D8N	SH3RF2_uc011dbl.1_Missense_Mutation_p.D8N	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	8							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTTACTTGATCTTCTGGA	0.512000														93			14		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502486	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140502486G>A	uc003lip.1	+	0	906	c.906G>A	c.(904-906)ttG>ttA	p.L302L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAAT	0.368000														145			12		0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145661735	145661735	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:145661735G>A	uc011llg.2	-	16	2096	c.2081C>T	c.(2080-2082)cCt>cTt	p.P694L	AK298596_uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	694					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGGCTCAAAGGAGGAGAGGT	0.632000														108			11		0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57027681	57027681	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:57027681C>T	uc002qnh.3	+	2	204	c.71C>T	c.(70-72)tCc>tTc	p.S24F		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F23L(1)|p.F23Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATAGATTTTTCCCAGGAAGAA	0.413000														82			8		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123477138	123477138	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:123477138G>A	uc001uej.1	-	14	2511	c.2312C>T	c.(2311-2313)cCg>cTg	p.P771L	PITPNM2_uc001uek.1_Missense_Mutation_p.P771L	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	771	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TTCCAGCAGCGGCTCCAGGCG	0.682000														97			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644202	158644202	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:158644202C>T	uc001fst.1	-	9	1466	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	423					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)					AATCGGTCATCGTAAGAGTCA	0.453000														131			14		0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38934372	38934372	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:38934372C>A	uc003avz.1	-	10	878	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	DMC1_uc011anv.1_Missense_Mutation_p.G180C	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	235					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TCCCCACGGCCACTGAAATCC	0.383000								Homologous recombination						45			15		6.31663e-08	6.39578e-08	1	1	0
ZNF205	7755	broad.mit.edu	37	16	3165541	3165541	+	Silent	SNP	G	A	A	rs142004102		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:3165541G>A	uc002cub.3	+	2	378	c.243G>A	c.(241-243)aaG>aaA	p.K81K	MGC3771_uc010bte.2_Non-coding_Transcript|MGC3771_uc002ctz.3_Non-coding_Transcript|ZNF205_uc002cua.3_Silent_p.K81K	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						ACGGCTCTAAGGAGAAAGCTC	0.637000														23			3		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347581	91347581	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:91347581C>T	uc001tbj.3	-	0	1373	c.939G>A	c.(937-939)gaG>gaA	p.E313E		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	313	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						catcttcgacctcttcctcct	0.532000														60			8		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039166	31039166	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:31039166C>T	uc002nsu.1	+	3	2778	c.2640C>T	c.(2638-2640)gtC>gtT	p.V880V	ZNF536_uc010edd.1_Silent_p.V880V	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	880					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)					CTTCGGAGGTCCCCTCAGATG	0.542000														102			15		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439501	150439501	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:150439501G>A	uc022apw.1	+	5	1026	c.886G>A	c.(886-888)Gat>Aat	p.D296N	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.D92N	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GTCACAGGCCGATACCCAAGA	0.597000														54			5		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60366661	60366661	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:60366661C>T	uc001czq.3	-	7	1311	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	436					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ATAAAGGCTTCCCTTTTCTTA	0.532000														56			4		0	0	1	0	0
METTL19	152992	broad.mit.edu	37	4	8465746	8465746	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:8465746T>G	uc003glg.2	+	6	1256	c.1238T>G	c.(1237-1239)tTc>tGc	p.F413C	METTL19_uc003glf.1_Missense_Mutation_p.F172C|METTL19_uc003glh.1_Missense_Mutation_p.F21C	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	413					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						AAGACCCTTTTCCCTGATGTT	0.423000														105			13		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228434305	228434305	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:228434305G>A	uc009xez.1	+	12	3878	c.3834G>A	c.(3832-3834)ctG>ctA	p.L1278L	OBSCN_uc001hsn.3_Silent_p.L1278L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1278	Ig-like 13.				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)				GTGCCACACTGAGCTGTGAGG	0.607000														64			4		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457668	41457668	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:41457668C>T	uc002yyq.1	-	22	4445	c.3993G>A	c.(3991-3993)acG>acA	p.T1331T	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.	1331	Ig-like C2-type 10.				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)				GCCCATCAATCGTTACTAGAC	0.438000														60			6		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388012	48388012	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:48388012C>T	uc001jez.3	-	0	2980	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	956	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E956K(2)		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)	GCCCCCAGCTCGGCAGAGGCA	0.632000														45			3		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741127	53741127	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:53741127G>A	uc002qbg.1	-	4	1004	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	ZNF677_uc002qbf.1_Missense_Mutation_p.H285Y	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTCCAGAGTGAATTCTCTGA	0.418000														60			6		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48622173	48622173	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:48622173C>T	uc003ctz.2	-	33	4042	c.4041G>A	c.(4039-4041)ggG>ggA	p.G1347G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1347	Interrupted collagenous region.|Triple-helical region.		G -> R (in RDEB; localized type; mild).		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)		CTACCGGCTCCCCCTTTGGGC	0.657000														53			11		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106810973	106810973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:106810973C>T	uc003ymd.3	+	6	784	c.761C>T	c.(760-762)tCc>tTc	p.S254F	ZFPM2_uc011lhs.2_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	254					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTTGCAAGTCCTGTGGCATC	0.468000														33			5		0	0	1	0	0
BRMS1L	84312	broad.mit.edu	37	14	36302296	36302296	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:36302296C>T	uc001wtl.3	+	2	472	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	BRMS1L_uc010tpx.1_Missense_Mutation_p.R68C	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	116					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		TATGCAAATTCGTACAAAGGT	0.363000														10			3		0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257305	41257305	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:41257305C>T	uc003azj.3	-	0	826	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	232					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTGCAAAGCCCTCTTCATTG	0.348000														72			27		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303844	151303844	+	Silent	SNP	A	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:151303844A>C	uc022cgz.1	-	0	249	c.249T>G	c.(247-249)ccT>ccG	p.P83P	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.P83P|MAGEA10_uc004ffm.2_Silent_p.P83P|MAGEA10_uc004ffl.3_Silent_p.P83P	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	83										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CACTCTGGGGAGGATTTGGTG	0.547000														176			28		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546500	2546500	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:2546500C>T	uc002cql.3	+	1	491	c.351C>T	c.(349-351)atC>atT	p.I117I	TBC1D24_uc002cqk.3_Silent_p.I117I|TBC1D24_uc002cqm.3_Silent_p.I117I|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	117	Rab-GAP TBC.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TGCGCAAGATCCTCCTGTGCC	0.677000														66			8		0	0	1	0	0
C3orf24	115795	broad.mit.edu	37	3	10146064	10146064	+	Missense_Mutation	SNP	C	T	T	rs139498249		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:10146064C>T	uc003buz.3	-	1	620	c.395G>A	c.(394-396)aGg>aAg	p.R132K	C3orf24_uc003bva.2_Missense_Mutation_p.R132K|C3orf24_uc021wsy.1_Missense_Mutation_p.R132K	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.	132										endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		CTGGTGCTCCCTGCTAATGAT	0.488000														113			19		0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:39411940C>T	uc021txh.1	+	0	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA.	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000														104			6		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19825212	19825212	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:19825212C>T	uc002nnk.1	-	1	242	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ATCACATCTTCATAGAGCTTT	0.423000														60			6		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78888994	78888995	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:78888994_78888995CC>TT	uc002bec.3	-	5	1970_1971	c.1469_1470GG>AA	c.(1468-1470)ggg>gAA	p.G490E	CHRNA3_uc002beb.3_Intron|CHRNA3_uc002bea.3_Non-coding_Transcript|CHRNA3_uc010blg.2_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	490					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCCTGCTGTCCCTAGAATGCA	0.465000														35			6		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670118	44670118	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:44670118C>T	uc010zxl.1	+	7	1150	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F335F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	358					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.L358I(1)		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)	ATGAATACTTCACCCGAAACA	0.577000														72			9		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601575	139601575	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:139601575G>A	uc003yvd.3	-	64	5249	c.4802C>T	c.(4801-4803)cCc>cTc	p.P1601L	COL22A1_uc011ljo.2_Missense_Mutation_p.P881L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1601	Collagen-like 16.|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)			TTGGCCTGGGGGACCGGGAGG	0.617000										HNSCC(7;0.00092)				30			5		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869848	36869848	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:36869848G>A	uc002xhy.1	-	2	957	c.685C>T	c.(685-687)Cct>Tct	p.P229S	KIAA1755_uc002xhz.1_Missense_Mutation_p.P229S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	229										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCTGGGCAGGAAGCACCTGG	0.597000														55			11		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393573	154393573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:154393573G>A	uc010jih.1	+	0	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	52	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCACCTACGATTTTGTGTT	0.483000														43			7		0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34658540	34658540	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:34658540C>T	uc003zvi.3	+	7	2026	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	IL11RA_uc011loq.2_Silent_p.L224L|IL11RA_uc003zvj.3_Silent_p.L224L|IL11RA_uc003zvk.3_Silent_p.L224L|IL11RA_uc010mke.3_Silent_p.L106L	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	224	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	ACCCCAGGGCCTGCGGGTAGA	0.612000														51			7		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45810877	45810877	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:45810877G>A	uc010gpt.1	+	9	1509	c.1409G>A	c.(1408-1410)aGt>aAt	p.S470N	TRPM2_uc002zet.1_Missense_Mutation_p.S470N|TRPM2_uc002zeu.1_Missense_Mutation_p.S470N|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.S470N|TRPM2_uc002zex.1_Missense_Mutation_p.S256N|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	470						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R469C(1)|p.R469H(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATTGCCCGCAGTGAGATCTTC	0.582000														73			13		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113344	161113344	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:161113344G>A	uc003lyu.2	+	1	485	c.147G>A	c.(145-147)ccG>ccA	p.P49P		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	49					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.R48L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCTGCGGCCGGGATTTGGAG	0.488000										TCGA Ovarian(5;0.080)				84			13		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348914	120348914	+	Silent	SNP	T	C	C	rs2298465		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:120348914T>C	uc001pxl.2	+	36	3917	c.3582T>C	c.(3580-3582)tcT>tcC	p.S1194S	ARHGEF12_uc009zat.3_Silent_p.S1175S|ARHGEF12_uc009zau.1_Silent_p.S1091S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1194					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AACCTCAGTCTCATTCACTGA	0.393000			T	MLL	AML									35			4		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103240729	103240729	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:103240729C>T	uc001tjq.1	-	9	1386	c.913_splice	c.e9-1	p.E305_splice		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	305					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGCCAATTTCCTGTAATTGG	0.493000														65			8		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204238	9204238	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:9204238C>T	uc010xkj.2	+	0	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCTTCCATTTCTTTGGCATCG	0.537000														45			6		0	0	1	0	0
METTL20	254013	broad.mit.edu	37	12	31815175	31815175	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:31815175C>T	uc009zjr.3	+	1	497	c.288C>T	c.(286-288)taC>taT	p.Y96Y	METTL20_uc001rkl.3_Silent_p.Y96Y|METTL20_uc001rkm.3_Silent_p.Y96Y	NM_001135864	NP_776163	Q8IXQ9	MET20_HUMAN	Homo sapiens methyltransferase like 20 (METTL20), transcript variant 3, mRNA.	96						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						GGGCAATCTACTGGCCAGGAG	0.507000														60			6		0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22337116	22337117	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:22337116_22337117CC>TT	uc002dkk.3	+	17	1539_1540	c.1383_1384CC>TT	c.(1381-1386)atccaa>atTTaa	p.Q462*	POLR3E_uc002dkj.1_Nonsense_Mutation_p.Q462*|POLR3E_uc002dkm.3_Nonsense_Mutation_p.Q426*|POLR3E_uc010vbr.2_Nonsense_Mutation_p.Q462*|POLR3E_uc002dkl.3_Nonsense_Mutation_p.Q462*|POLR3E_uc010vbs.2_Nonsense_Mutation_p.Q426*|POLR3E_uc010vbt.2_Nonsense_Mutation_p.Q406*	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	462					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCAGCGGATCCAAGTAGCCAA	0.688000														42			5		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447001	41447002	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:41447001_41447002CC>TT	uc002yyq.1	-	26	5302_5303	c.4850_4851GG>AA	c.(4849-4851)cgg>cAA	p.R1617Q	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1617					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	p.R1617W(1)|p.R1617R(1)		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)				GCCGCCTCCTCCGCACAACCAG	0.624000														33			4		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784136	9784136	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:9784136C>T	uc003gmb.4	+	0	879	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	161					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGTCATGGTCGGCCTGGCAT	0.622000														42			4		0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75574908	75574908	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:75574908G>A	uc001jvm.2	-	19	1666	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	CAMK2G_uc001jvs.2_Silent_p.L495L|CAMK2G_uc001jvo.2_Silent_p.L483L|CAMK2G_uc001jvp.2_Silent_p.L474L|CAMK2G_uc001jvq.2_Silent_p.L460L|CAMK2G_uc001jvr.2_Silent_p.L451L|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc009xrp.1_Silent_p.L101L	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	514					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TGTACTGGGTGAGGCGGATGT	0.602000														43			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427377	179427377	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:179427377C>T	uc021vsy.1	-	274	76003	c.75778G>A	c.(75778-75780)Gaa>Aaa	p.E25260K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18955K|TTN_uc021vta.1_Missense_Mutation_p.E18888K|TTN_uc021vtb.1_Missense_Mutation_p.E18763K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26187	Ig-like 124.						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)			TGTAGATTTTCAATTCTGAAA	0.368000														52			6		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487642	87487642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:87487642C>T	uc001kdl.1	-	9	1604	c.1503G>A	c.(1501-1503)tgG>tgA	p.W501*	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Nonsense_Mutation_p.W72*	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	501						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.W501*(2)		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)	TCATCCCGTTCCAGGAGGTGT	0.537000										Multiple Myeloma(13;0.14)				67			11		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129371157	129371157	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:129371157G>A	uc021zfb.1	+	1	312	c.207G>A	c.(205-207)ttG>ttA	p.L69L	LAMA2_uc003qbn.3_Silent_p.L69L|LAMA2_uc003qbo.3_Silent_p.L69L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	69	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGCAAATTGGTAGAACATG	0.443000														55			3		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74155587	74155587	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:74155587G>A	uc002jqz.3	-	11	1202	c.1133C>T	c.(1132-1134)aCc>aTc	p.T378I	RNF157_uc002jra.3_Missense_Mutation_p.T378I	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	378							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGGGACGGGGTGAGGGGCCC	0.547000														78			5		0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2832427	2832427	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:2832427C>T	uc002lwm.2	+	3	578	c.380C>T	c.(379-381)tCc>tTc	p.S127F	ZNF554_uc002lwl.2_Missense_Mutation_p.S76F	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	127	KRAB.				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)		GTGGCTTCTTCCCACTTGGAG	0.488000														138			11		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055846	68055846	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:68055846C>T	uc003dnd.3	+	1	293	c.77C>T	c.(76-78)tCc>tTc	p.S26F	FAM19A1_uc003dne.3_Missense_Mutation_p.S26F|FAM19A1_uc003dng.3_Missense_Mutation_p.S26F|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	26						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TGCCATGGATCCCTTCAGCAC	0.502000														99			17		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10683697	10683697	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:10683697G>A	uc011kwz.2	-	4	392	c.359C>T	c.(358-360)tCc>tTc	p.S120F	SOX7_uc003wth.2_Missense_Mutation_p.S120F|SOX7_uc003wti.2_Missense_Mutation_p.S120F|MIR1322_uc022arv.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	66					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ACGGTTTTTGGAGATTTTGGA	0.318000														15			5		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76802333	76802333	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:76802333G>A	uc002jvz.1	-	14	2446	c.2121C>T	c.(2119-2121)ctC>ctT	p.L707L	USP36_uc002jwa.1_Silent_p.L707L|USP36_uc002jwb.1_Silent_p.L344L|USP36_uc002jwc.1_Silent_p.L407L	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	707					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAGGTGGACGGAGGTCATTGC	0.562000														60			7		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43711742	43711742	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:43711742C>T	uc011aev.2	+	12	1772	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	ABCG1_uc002zam.3_Silent_p.I521I|ABCG1_uc002zan.3_Silent_p.I545I|ABCG1_uc002zao.3_Silent_p.I540I|ABCG1_uc002zap.3_Silent_p.I543I|ABCG1_uc002zaq.3_Silent_p.I555I|ABCG1_uc002zar.3_Silent_p.I554I|ABCG1_uc010gpb.2_Missense_Mutation_p.R196W	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	555	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCCTGCTGATCGGAGCCGCCT	0.677000														39			5		0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535878	145535878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:145535878C>T	uc003zbt.4	+	8	1260	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	364						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)			GCCTCCCTCCCCCCCGCCCAC	0.706000														14			3		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939520	12939520	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:12939520G>A	uc004cvd.3	+	2	2585	c.2415G>A	c.(2413-2415)atG>atA	p.M805I	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.M787I	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	787	LRRCT.				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						GAAGATGGATGGATGAACATC	0.443000														65			9		0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160605324	160605324	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:160605324C>T	uc002uax.3	+	4	1645	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	MARCH7_uc010foq.3_Missense_Mutation_p.P508L|MARCH7_uc010zcn.2_Missense_Mutation_p.P452L|MARCH7_uc010for.3_Missense_Mutation_p.P470L|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	508							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATATTATTCCTTCAGGTTGG	0.398000														203			21		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73951085	73951085	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:73951085G>A	uc003hgp.3	-	29	7157	c.7040C>T	c.(7039-7041)tCa>tTa	p.S2347L	ANKRD17_uc003hgo.3_Missense_Mutation_p.S2234L|ANKRD17_uc003hgq.3_Missense_Mutation_p.S2096L|ANKRD17_uc003hgr.3_Missense_Mutation_p.S2346L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2347					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGACCTCCTGAAATGTTTGA	0.453000														119			14		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254637	30254637	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:30254637C>T	uc022bug.1	+	0	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L	MAGEB3_uc004dca.2_Missense_Mutation_p.P199L	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	199	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGGGGATTTCCCAAGACAGGT	0.468000														27			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61967799	61967799	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:61967799C>T	uc001jky.3	-	9	1527	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	ANK3_uc010qih.2_Missense_Mutation_p.A380T|ANK3_uc001jkz.4_Missense_Mutation_p.A391T|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Missense_Mutation_p.A58T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	397					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						CTCACCAGGGCTTTGGCATTG	0.512000														71			6		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600775	232600775	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:232600775G>A	uc001hvg.3	-	6	2789	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	SIPA1L2_uc001hvf.3_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	877					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGAACTCATTGGAGATCCCGA	0.473000														74			4		0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41973927	41973927	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:41973927C>T	uc003bal.2	-	7	613	c.551_splice	c.e7-1	p.G184_splice		NM_002676	NP_002667	Q92871	PMM1_HUMAN	Homo sapiens phosphomannomutase 1 (PMM1), mRNA.	184					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GATCATGCCTCCTGTGGGCAG	0.562000														42			25		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820223	55820223	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:55820223G>A	uc010spm.2	+	0	186	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTCCTCAGGAATTTCTCCT	0.393000														105			10		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461315	11461315	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:11461315C>T	uc001qzf.1	-	2	636	c.602G>A	c.(601-603)gGa>gAa	p.G201E	PRB4_uc001qzt.3_Missense_Mutation_p.G201E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	264	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTGTGGCTTTCCAGGAGGTGG	0.632000										HNSCC(22;0.051)				281			27		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35187441	35187441	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:35187441G>A	uc003teq.1	-	7	1149	c.42C>T	c.(40-42)ttC>ttT	p.F14F	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GAAGTACAAGGAAAGGATAGG	0.328000														24			3		0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179322377	179322377	+	Silent	SNP	T	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:179322377T>C	uc003fjz.3	-	0	58	c.36A>G	c.(34-36)agA>agG	p.R12R	MRPL47_uc003fka.3_5'UTR|MRPL47_uc003fkb.3_Silent_p.R12R|NDUFB5_uc021xhu.1_5'Flank|NDUFB5_uc003fke.3_5'Flank|NDUFB5_uc003fkd.3_5'Flank|NDUFB5_uc003fkc.3_5'Flank	NM_020409	NP_817125	Q9HD33	RM47_HUMAN	Homo sapiens mitochondrial ribosomal protein L47 (MRPL47), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	12					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CGGATGAAACTCTCCTACAAA	0.527000														127			18		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35549193	35549193	+	Silent	SNP	T	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:35549193T>C	uc002hnm.3	-	36	4334	c.4143A>G	c.(4141-4143)ttA>ttG	p.L1381L	ACACA_uc002hnk.3_Silent_p.L1303L|ACACA_uc002hnl.3_Silent_p.L1323L|ACACA_uc002hnn.3_Silent_p.L1381L|ACACA_uc002hno.3_Silent_p.L1418L|ACACA_uc010cuy.3_Silent_p.L75L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1381					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTTCAGCTCTAACTGGAAAG	0.478000														42			3		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108600113	108600113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:108600113C>T	uc001tms.3	+	2	1174	c.430C>T	c.(430-432)Cga>Tga	p.R144*	WSCD2_uc001tmt.3_Nonsense_Mutation_p.R144*	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	144	WSC 1.					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						TCGGGCCCTTCGAGGAGTGTC	0.522000														47			8		0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135920326	135920326	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:135920326G>A	uc010fnf.3	+	20	2438	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.E799K|RAB3GAP1_uc010fng.3_Missense_Mutation_p.E624K|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	799						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGAAAGTCTCGAAAACATTTC	0.303000														54			11		0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362901	19362901	+	Missense_Mutation	SNP	C	T	T	rs141711370		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:19362901C>T	uc011kyn.2	-	3	1509	c.445G>A	c.(445-447)Gat>Aat	p.D149N	CSGALNACT1_uc011kyo.2_Missense_Mutation_p.D149N|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.D149N|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	149					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GTAAAGCTATCGAAAGGCACT	0.587000														68			5		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144804368	144804368	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:144804368G>C	uc003yzj.3	+	13	1623	c.1582G>C	c.(1582-1584)Gtc>Ctc	p.V528L		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	528					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			CTACGGGACTGTCTGCCACTC	0.692000														73			23		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100131402	100131402	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:100131402C>T	uc003huo.2	-	4	498	c.404G>A	c.(403-405)gGa>gAa	p.G135E	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Missense_Mutation_p.G135E|ADH6_uc010ile.3_Missense_Mutation_p.G135E	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	135					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	p.K134N(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TATTGATTTTCCCTTGCAGGT	0.368000														44			11		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10467257	10467257	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:10467257C>T	uc002moc.4	-	17	2982	c.2604G>A	c.(2602-2604)cgG>cgA	p.R868R	TYK2_uc010dxe.3_Silent_p.R683R	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	868	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGGGCTGCAGCCGGGTGAGGT	0.637000														39			3		0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64746761	64746761	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:64746761C>T	uc001xha.1	-	2	941	c.473G>A	c.(472-474)gGa>gAa	p.G158E	ESR2_uc001xgy.2_Missense_Mutation_p.G158E|ESR2_uc001xgu.3_Missense_Mutation_p.G158E|ESR2_uc001xgv.3_Missense_Mutation_p.G158E|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.G158E|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Missense_Mutation_p.G158E|ESR2_uc001xgz.2_Missense_Mutation_p.G158E	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	158					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATAGTGATATCCCGATGCGTA	0.463000														212			33		0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784537	143784537	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:143784537G>A	uc011ljv.2	+	2	663	c.246G>A	c.(244-246)gcG>gcA	p.A82A	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_Intron	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	82	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.A140A(1)|p.R82S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	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)					TCATGGTTGCGAAGCAGTGCT	0.498000														28			4		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160031010	160031010	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:160031010C>T	uc003lym.1	-	19	4046	c.3199G>A	c.(3199-3201)Gat>Aat	p.D1067N	ATP10B_uc010jit.1_Missense_Mutation_p.D384N	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1067					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCCAATATCAGCAGCTTGA	0.403000														101			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256892	140256892	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140256892A>T	uc003lic.2	+	0	1962	c.1835A>T	c.(1834-1836)cAa>cTa	p.Q612L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.Q612L	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	624	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)			TACGAGTTGCAACCGGCGGCG	0.677000														73			10		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85564319	85564319	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:85564319A>G	uc001dkt.3	+	12	1648	c.1457A>G	c.(1456-1458)cAc>cGc	p.H486R	WDR63_uc009wcl.3_Missense_Mutation_p.H447R	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	486										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ACAGATATACACTGGTTGTCT	0.353000														77			9		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18661393	18661393	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:18661393G>A	uc001bau.2	+	3	696	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	105	Ig-like 1.					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)		CAGGCTGCCCGAGGTCCGGAT	0.612000														65			4		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578875	9578875	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:9578875C>T	uc002mlp.1	-	9	958	c.748G>A	c.(748-750)Gac>Aac	p.D250N	ZNF560_uc010dwr.1_Missense_Mutation_p.D144N	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K249K(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAAAGGAGGTCTTTTGCATAC	0.373000														70			10		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7643748	7643749	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:7643748_7643749GG>AA	uc002giu.1	+	8	1401_1402	c.1387_1388GG>AA	c.(1387-1389)gga>AAa	p.G463K	DNAH2_uc002git.3_Missense_Mutation_p.G545K|DNAH2_uc010vuk.2_Missense_Mutation_p.G463K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	463	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTTCCGTGCCGGAATCAAGGAC	0.619000														135			19		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162696385	162696385	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:162696385G>A	uc002ubx.4	+	3	548	c.364G>A	c.(364-366)Gat>Aat	p.D122N	SLC4A10_uc010fpa.1_Missense_Mutation_p.D134N|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.D133N|SLC4A10_uc002uby.4_Missense_Mutation_p.D122N	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	122					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACAGAACTGGATGAGATTTG	0.438000														73			11		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720835	95720835	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:95720835C>T	uc009xuj.2	-	0	838	c.319G>A	c.(319-321)Gat>Aat	p.D107N						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TACAAGTAATCATCGGGCCGG	0.502000														74			9		0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8099816	8099816	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:8099816A>C	uc003srk.3	+	4	1463	c.904A>C	c.(904-906)Ata>Cta	p.I302L		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	302										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGTAGAAGGAATAAGTCCTGA	0.373000														61			4		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72936121	72936121	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:72936121C>T	uc001sxa.3	+	6	1668	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	546					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTCAGTTTTCCAGAGGGGTT	0.308000														27			4		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641908	66641908	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:66641908C>T	uc001sth.3	+	11	1850	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	IRAK3_uc010ssy.2_Missense_Mutation_p.S522F	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	583					MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGCTGTTCCTCCAAATTTTCC	0.423000														84			8		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277661	113277661	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:113277661C>T	uc003ynu.3	-	59	9826	c.9667G>A	c.(9667-9669)Gga>Aga	p.G3223R	CSMD3_uc003yns.3_Missense_Mutation_p.G2425R|CSMD3_uc003ynt.3_Missense_Mutation_p.G3183R|CSMD3_uc011lhx.2_Missense_Mutation_p.G3054R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3223	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCATTACTCCACTCCATGTG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				83			23		0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37846151	37846151	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:37846151C>T	uc011byb.1	+	6	959	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	PGM2_uc011bya.1_Missense_Mutation_p.P157S|PGM2_uc011byc.1_Missense_Mutation_p.P136S	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	296					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATACCCGAATCCCGAAGAGGG	0.373000														87			13		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113059863	113059863	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:113059863C>T	uc001ecb.3	+	3	1317	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	WNT2B_uc001eca.3_Missense_Mutation_p.R249C|WNT2B_uc009wgg.3_Missense_Mutation_p.R176C	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	268					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	p.R268C(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGCGGCGACGCTATGATGG	0.607000														58			5		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281077	49281077	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr13:49281077C>T	uc010acw.1	+	1	414	c.124C>T	c.(124-126)Cca>Tca	p.P42S	CYSLTR2_uc010acx.1_Missense_Mutation_p.P42S|CYSLTR2_uc010acy.1_Missense_Mutation_p.P42S|CYSLTR2_uc010acz.1_Missense_Mutation_p.P42S|CYSLTR2_uc010ada.1_Missense_Mutation_p.P42S|CYSLTR2_uc010adb.1_Missense_Mutation_p.P42S|CYSLTR2_uc010adc.1_Missense_Mutation_p.P42S|CYSLTR2_uc010add.1_Missense_Mutation_p.P42S|CYSLTR2_uc001vck.2_Missense_Mutation_p.P42S|CYSLTR2_uc021rjl.1_Missense_Mutation_p.P42S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	42					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGAATTTTTCCCAATTGTATA	0.398000														80			8		0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160808	38160808	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:38160808C>T	uc002ogy.2	-	3	984	c.242G>A	c.(241-243)aGa>aAa	p.R81K	ZNF781_uc002ogz.2_Missense_Mutation_p.R76K|ZNF781_uc021utu.1_Missense_Mutation_p.R81K	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	Homo sapiens zinc finger protein 781 (ZNF781), mRNA.	81					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						AGTGTGAGTTCTCTTATGTTG	0.388000														105			14		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843182	215843182	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:215843182C>T	uc002vew.3	-	32	5206	c.4986G>A	c.(4984-4986)ctG>ctA	p.L1662L	ABCA12_uc002vev.3_Silent_p.L1344L|ABCA12_uc010zjn.2_Silent_p.L589L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1662					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)		TGGTCAAGTTCAGAAAGACCT	0.358000														18			3		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000404	16000404	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:16000404G>A	uc002nbs.1	-	6	797	c.747C>T	c.(745-747)ctC>ctT	p.L249L	CYP4F2_uc010xot.1_Silent_p.L100L|CYP4F2_uc010xou.1_Silent_p.L100L	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	249					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CATCAGGGGTGAGATAATACA	0.562000														112			12		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951727	44951727	+	Silent	SNP	C	T	T	rs142547927		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:44951727C>T	uc003coc.4	+	10	1546	c.1473C>T	c.(1471-1473)acC>acT	p.T491T		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	491					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)	TTAATTTCACCGTGATTCTTA	0.448000														79			12		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46313906	46313906	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:46313906C>T	uc002pdm.3	-	1	1014	c.843G>A	c.(841-843)cgG>cgA	p.R281R	RSPH6A_uc002pdl.3_Silent_p.R17R	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	281						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGCCTCCACTCCGGGTGAACA	0.627000														155			25		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134084242	134084242	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:134084242C>T	uc003iha.3	+	3	3734	c.2908C>T	c.(2908-2910)Cgc>Tgc	p.R970C		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	970					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TGCTGATTATCGCAGCAATCT	0.532000														56			11		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423485	26423485	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:26423485C>T	uc003abz.1	+	42	7795	c.7545C>T	c.(7543-7545)atC>atT	p.I2515I	MYO18B_uc003aca.1_Silent_p.I2396I|MYO18B_uc010guy.1_Silent_p.I2397I|MYO18B_uc010guz.1_Silent_p.I2395I|MYO18B_uc011aka.1_Silent_p.I1669I|MYO18B_uc011akb.1_Silent_p.I2028I|MYO18B_uc010gva.1_Silent_p.I498I|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2515						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGGCTCCATCGTGTCCTTCA	0.587000														27			8		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378928	92378928	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:92378928C>T	uc003yez.3	+	13	1848	c.1609C>T	c.(1609-1611)Ctt>Ttt	p.L537F	SLC26A7_uc003yex.3_Missense_Mutation_p.L537F|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.L537F	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	537	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAATCAGCCACTTGATGATAT	0.303000														90			15		0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938776	132938776	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:132938776C>T	uc003qdl.1	-	1	569	c.569G>A	c.(568-570)gGc>gAc	p.G190D	TAAR2_uc010kfr.1_Missense_Mutation_p.G145D	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	190						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GATGTCATAGCCCTCTATTCC	0.488000														54			6		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30135411	30135411	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:30135411G>A	uc001wqh.3	-	2	588	c.407C>T	c.(406-408)tCc>tTc	p.S136F	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	136					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAAGGTGGCGGAAGCTGTAAA	0.403000														70			9		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16250049	16250049	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:16250049G>A	uc003car.4	+	3	1426	c.951G>A	c.(949-951)tgG>tgA	p.W317*	GALNTL2_uc003caq.4_Nonsense_Mutation_p.W50*	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	317						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						TGATTGACTGGAAGACTTTCC	0.498000														134			19		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254209	1254209	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:1254209C>T	uc002cks.3	+	9	2450	c.2202C>T	c.(2200-2202)gtC>gtT	p.V734V	CACNA1H_uc002ckt.3_Silent_p.V734V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	734					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGCAGGACGTCCGGCACGGTG	0.701000														16			4		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49737164	49737164	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:49737164C>T	uc003cxh.3	+	11	1029	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F	RNF123_uc010hky.1_5'UTR|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	315						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CACCGTCCTCCTCACACTGGC	0.652000														64			9		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569574	248569574	+	Silent	SNP	G	A	A	rs139879826	by1000genomes	TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:248569574G>A	uc010pzm.2	+	0	279	c.279G>A	c.(277-279)ggG>ggA	p.G93G		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCCAATGGGGTTATGATCT	0.433000														106			6		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26610879	26610879	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:26610879G>A	uc001blw.3	-	11	1220	c.947C>T	c.(946-948)gCc>gTc	p.A316V	UBXN11_uc001bly.3_Missense_Mutation_p.A196V|UBXN11_uc001blz.1_Missense_Mutation_p.A283V|UBXN11_uc001blx.3_Missense_Mutation_p.A74V|UBXN11_uc001bma.3_Missense_Mutation_p.A283V|UBXN11_uc010ofb.1_3'UTR|UBXN11_uc010ofc.1_3'UTR	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	316						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CCTGTCCAAGGCCTTGTGCAT	0.647000														39			3		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408800	178408800	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:178408800G>A	uc003mjr.3	-	9	2671	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	GRM6_uc003mjq.3_Missense_Mutation_p.S234F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	831					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)		CATGCCGAGGGACACCGAGGC	0.577000														145			14		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811429	23811429	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:23811429C>T	uc001ywh.4	+	0	976	c.500C>T	c.(499-501)tCc>tTc	p.S167F	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S167F	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	167						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCTCCCTTTCCTTGCCTGTG	0.637000														30			7		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690828	38690828	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:38690828G>A	uc021yzh.1	+	1	352	c.243G>A	c.(241-243)ctG>ctA	p.L81L	DNAH8_uc003ooe.2_5'UTR	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						AAGCGGATCTGAATAGAGTTC	0.522000														54			16		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1414548	1414548	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:1414548G>A	uc003boz.3	+	13	1962	c.1695G>A	c.(1693-1695)agG>agA	p.R565R	CNTN6_uc011asj.2_Silent_p.R493R|CNTN6_uc003bpa.3_Silent_p.R565R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	565	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGATGATAAGGAATATTCAGT	0.373000														96			5		0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6285225	6285225	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:6285225T>C	uc001amk.3	-	4	843	c.770A>G	c.(769-771)cAc>cGc	p.H257R	ICMT_uc001aml.3_Missense_Mutation_p.H161R	NM_012405	NP_036537	O60725	ICMT_HUMAN	Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.	257					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	p.I256N(1)		NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TCCAAAAAAGTGAATTAGTGA	0.537000														117			8		0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506291	178506291	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:178506291C>T	uc003mju.3	+	4	973	c.858C>T	c.(856-858)acC>acT	p.T286T		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ACAGTTCAACCCTTATCAAAC	0.423000														95			7		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957138	102957138	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:102957138C>T	uc002tbu.1	+	4	731	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	IL1RL1_uc010ywa.2_Missense_Mutation_p.L37F|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.L154F	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	154	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTGTCAGGCTCTTCAAGGATC	0.373000														117			13		0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19763002	19763002	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:19763002G>A	uc002ktt.1	+	5	1883	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	GATA6_uc002ktu.1_Missense_Mutation_p.G540R	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	540					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TACAGCCTCAGGGGTAAGTAT	0.373000														38			4		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771331	43771331	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:43771331C>T	uc010skx.2	-	31	4832	c.4832G>A	c.(4831-4833)aGg>aAg	p.R1611K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1611	TSP type-1 14.					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)		ATATGTAATCCTTTGTCTGTA	0.388000														18			3		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322936	5322936	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:5322936C>T	uc010qza.2	-	0	241	c.241G>A	c.(241-243)Ggt>Agt	p.G81S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAGGACACCCAGGACTGTG	0.507000														63			12		0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432498	72432498	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:72432498C>T	uc021spq.1	+	1	867	c.534C>T	c.(532-534)ttC>ttT	p.F178F	SENP8_uc021spr.1_Silent_p.F178F|SENP8_uc021sps.1_Silent_p.F178F|SENP8_uc021spt.1_Silent_p.F178F|SENP8_uc002atp.3_Silent_p.F178F|SENP8_uc021spu.1_Silent_p.F178F	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	178					proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GTCAGAACTTCTTTAGGCAAC	0.458000														75			9		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672517	141672517	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:141672517G>A	uc003vwx.1	-	0	1057	c.973C>T	c.(973-975)Cac>Tac	p.H325Y		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	325					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)					TCTGCCTTGTGGTCGGCTCTT	0.502000														59			5		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67816141	67816141	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:67816141G>A	uc002lkp.2	-	16	2373	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	769							binding	p.P769T(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACTCACGATGGCTTTTTCACT	0.368000														75			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158624456	158624456	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:158624456C>T	uc001fst.1	-	20	3180	c.2981G>A	c.(2980-2982)cGa>cAa	p.R994Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	994	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R994L(2)|p.P993T(1)		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)					GGTGACTTCTCGGGGGCTGCG	0.468000														37			6		0	0	1	0	0
BCL2L2-PABPN1	100529063	broad.mit.edu	37	14	23777019	23777019	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:23777019G>A	uc001wjh.4	+	2	272	c.43G>A	c.(43-45)Gca>Aca	p.A15T	BCL2L2-PABPN1_uc001wjg.4_Missense_Mutation_p.A15T|BCL2L2-PABPN1_uc021rqx.1_Missense_Mutation_p.A15T|BCL2L2-PABPN1_uc001wji.4_Missense_Mutation_p.A15T	NM_001199864	NP_001186793			Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																		GGCTCTGGTGGCAGACTTTGT	0.597000														117			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740132	140740132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140740132G>A	uc003ljs.2	+	0	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.E144K	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	144	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)			AAAAATTGGCGAATCCACTAA	0.368000														57			4		0	0	1	0	0
CAMP	820	broad.mit.edu	37	3	48266136	48266136	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:48266136G>A	uc003csj.2	+	2	518	c.353G>A	c.(352-354)aGg>aAg	p.R118K		NM_004345	NP_004336	P49913	CAMP_HUMAN	Homo sapiens cathelicidin antimicrobial peptide (CAMP), mRNA.	118					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AACCAGGCCAGGGGCTCCTTT	0.537000														92			16		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253758	65253758	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:65253758C>T	uc001xht.3	-	14	2976	c.2925G>A	c.(2923-2925)aaG>aaA	p.K975K	SPTB_uc001xhr.3_Silent_p.K975K|SPTB_uc001xhs.3_Silent_p.K975K|SPTB_uc001xhu.3_Silent_p.K975K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	975					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)		ACTCCACTACCTTTGTCTTGT	0.607000														39			5		0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97347544	97347544	+	Silent	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:97347544A>G	uc001yft.3	+	12	1296	c.1190A>G	c.(1189-1191)tAa>tGa	p.*397*		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	0						cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GTCCAGAAGTAATTCAGATGC	0.318000														12			5		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739964	119739964	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:119739964G>A	uc002tln.1	+	11	1173	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	MARCO_uc010yyf.1_Silent_p.L269L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	347	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCACAGGCCTGAAAGGAAGCA	0.557000														154			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584975	179584975	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:179584975C>T	uc021vsy.1	-	77	19887	c.19662G>A	c.(19660-19662)gtG>gtA	p.V6554V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3215V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7481	Ig-like 47.						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)			TTAGCTTTTTCACGAATCGTG	0.433000														49			4		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101815988	101815988	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:101815988T>A	uc003knn.3	-	1	681	c.509A>T	c.(508-510)aAa>aTa	p.K170I	SLCO6A1_uc003kno.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.3_Missense_Mutation_p.K170I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	170						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCATATTACTTTTTTTCTGTC	0.333000														67			13		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351456	43351456	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:43351456A>G	uc003tid.1	+	3	727	c.122A>G	c.(121-123)tAc>tGc	p.Y41C	HECW1_uc011kbi.1_Missense_Mutation_p.Y41C|HECW1_uc003tie.1_Missense_Mutation_p.Y73C	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	41					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						CCGCTCCGATACAGCTACAAC	0.617000														59			4		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67431911	67431911	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:67431911C>T	uc001xiy.3	+	7	1854	c.733C>T	c.(733-735)Cca>Tca	p.P245S	GPHN_uc001xiw.3_Missense_Mutation_p.P260S|GPHN_uc001xix.3_Missense_Mutation_p.P278S|GPHN_uc010tss.2_Missense_Mutation_p.P258S|GPHN_uc010tst.2_Missense_Mutation_p.P214S|GPHN_uc010tsu.2_Missense_Mutation_p.P168S	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	245	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGTTCAGATTCCAGACTCCAT	0.463000			T	MLL	AL									69			8		0	0	1	0	0
CRYBA2	1412	broad.mit.edu	37	2	219855672	219855672	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:219855672G>A	uc002vjj.1	-	3	383	c.348C>T	c.(346-348)ttC>ttT	p.F116F	CRYBA2_uc002vjk.1_Silent_p.F116F	NM_057094	NP_476435	P53672	CRBA2_HUMAN	Homo sapiens crystallin, beta A2 (CRYBA2), transcript variant 3, mRNA.	116	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGCCTTGGAAGTTGTCCC	0.547000														78			14		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714916	52714916	+	Silent	SNP	G	A	A	rs148290789		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:52714916G>A	uc001saf.2	-	0	267	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	68	Head.				epidermis development	keratin filament	structural molecule activity	p.F68F(2)		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)		AGCGGTAGCCGAAGCTGCGTC	0.711000														56			4		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710036	41710036	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:41710036G>A	uc002yyq.1	-	7	2227	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I	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.	592	Ig-like C2-type 6.				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)				ACCTTTCACGGTCACGTGGAC	0.507000														130			9		0	0	1	0	0
GNA12	2768	broad.mit.edu	37	7	2771220	2771220	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:2771220G>A	uc003smu.3	-	3	905	c.741C>T	c.(739-741)tcC>tcT	p.S247S	GNA12_uc011jwb.2_Silent_p.S230S|GNA12_uc003smt.3_Silent_p.S188S	NM_007353	NP_031379	Q03113	GNA12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.	247					G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGAACAGGATGGACGTGATCC	0.567000														69			13		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70225987	70225987	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:70225987C>T	uc001dep.3	+	0	130	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F	LRRC7_uc001deo.1_Missense_Mutation_p.L72F|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	34						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCACTGCAGTCTTCAGCAGGT	0.443000														46			5		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93995633	93995633	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:93995633G>A	uc001ybv.1	+	7	605	c.522_splice	c.e7-1	p.G174_splice	UNC79_uc001ybs.1_Splice_Site_p.G174_splice|UNC79_uc001ybu.1_Splice_Site_p.G112_splice	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	351						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						TTTCAATAGGGACCACAGTGA	0.353000														40			6		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239895	126239895	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:126239895G>A	uc003ifj.4	+	0	2329	c.2329G>A	c.(2329-2331)Gca>Aca	p.A777T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	777	Cadherin 7.				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						TCCCAACCAGGCAATAGTAAC	0.433000														73			5		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616206	116616206	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:116616206G>A	uc003yny.3	-	3	2568	c.1990C>T	c.(1990-1992)Ctg>Ttg	p.L664L	TRPS1_uc011lhy.2_Silent_p.L655L|TRPS1_uc003ynz.3_Silent_p.L651L|TRPS1_uc010mcy.3_Silent_p.L651L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	651	Mediates interaction with GLI3.				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GATCCTTGCAGGTGATTTGCT	0.448000									Langer-Giedion syndrome					49			8		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149618263	149618263	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:149618263C>T	uc003lru.2	-	14	1248	c.1033_splice	c.e14+1	p.V345_splice	CAMK2A_uc003lrt.2_Splice_Site_p.V356_splice|CAMK2A_uc010jhe.2_Missense_Mutation_p.G336S	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	345					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTCCCTACCTTTGGTGTCT	0.562000														14			5		0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29857406	29857406	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:29857406C>T	uc002hgn.1	+	13	1945	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	RAB11FIP4_uc002hgo.2_Silent_p.L470L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	572	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GCCTCAGCCTCTACGAAGCAA	0.537000														102			10		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756610	71756610	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:71756610G>A	uc003kce.1	-	1	900	c.714C>T	c.(712-714)atC>atT	p.I238I		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGCTGTCATCGATCTGCACGT	0.632000														137			22		0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883438	7883438	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:7883438C>T	uc001qtg.1	-	4	626	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	CLEC4C_uc001qth.1_Missense_Mutation_p.R151Q|CLEC4C_uc001qti.1_Missense_Mutation_p.R120Q	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	151	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.R150W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGCCAATGTCGCCGACCCCC	0.443000														84			14		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129756296	129756296	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:129756296G>A	uc001qfg.3	-	2	541	c.420C>T	c.(418-420)tgC>tgT	p.C140C	NFRKB_uc001qfi.3_Silent_p.C127C|NFRKB_uc001qfh.3_Silent_p.C150C|NFRKB_uc010sbw.1_Silent_p.C127C	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	127					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTGACTTGAAGCATAACTGCC	0.428000														131			17		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31728487	31728487	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:31728487G>A	uc003nwu.2	+	19	1961	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	MSH5_uc003nwx.2_Missense_Mutation_p.M628I|MSH5_uc003nwv.2_Missense_Mutation_p.M611I|MSH5_uc003nww.2_Missense_Mutation_p.M611I|MSH5_uc011dof.1_Missense_Mutation_p.M310I|MSH5_uc003nwy.1_Missense_Mutation_p.M285I|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	611					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TCACATTCATGGCCCTGGTAG	0.567000								Direct reversal of damage;Mismatch excision repair (MMR)						64			27		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059443	248059443	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:248059443C>T	uc010pzb.2	+	0	555	c.555C>T	c.(553-555)atC>atT	p.I185I	OR2W3_uc001idp.1_Silent_p.I185I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCGCCCTGATCCGGATGGCCT	0.622000														82			12		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981877	981877	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:981877C>T	uc001ack.2	+	17	3062	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1004	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGGCGCCCTCCCCCTGGCTC	0.711000														17			6		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117158957	117158957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:117158957G>A	uc001egq.1	-	2	871	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	IGSF3_uc001egr.1_Nonsense_Mutation_p.Q56*	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	56	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGGACCACTGGAAATTCTGC	0.577000														40			8		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100173666	100173666	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:100173666A>G	uc001tge.2	-	5	1247	c.830T>C	c.(829-831)aTt>aCt	p.I277T	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	277						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGTGTTGCAATCTGGAGAGA	0.343000														74			11		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363518	56363518	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:56363518G>A	uc002qmd.4	+	1	494	c.72G>A	c.(70-72)agG>agA	p.R24R		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	24	DAPIN.						ATP binding			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)		AGGAGTTCAGGAAATTTAAAG	0.438000														130			11		0	0	1	0	0
PHF15	23338	broad.mit.edu	37	5	133914780	133914780	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:133914780G>T	uc003kzk.2	+	11	2364	c.2326G>T	c.(2326-2328)Gta>Tta	p.V776L	PHF15_uc011cxt.1_Missense_Mutation_p.V760L|PHF15_uc003kzm.2_Missense_Mutation_p.V717L|PHF15_uc003kzn.2_3'UTR|PHF15_uc003kzo.1_Missense_Mutation_p.V716L	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	716					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGAGCAAGGTAACCCGGAG	0.632000														79			11		5.50884e-06	5.56393e-06	1	1	0
CHD3	1107	broad.mit.edu	37	17	7811260	7811260	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:7811260C>G	uc002gjd.2	+	33	5254	c.5252C>G	c.(5251-5253)cCa>cGa	p.P1751R	CHD3_uc002gje.2_Missense_Mutation_p.P1692R|CHD3_uc002gjf.2_Missense_Mutation_p.P1658R|CHD3_uc002gjh.2_Missense_Mutation_p.P269R|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1692	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGAGATGAGCCACGGTCCAAT	0.567000														66			6		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122669236	122669236	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:122669236C>T	uc009zxm.3	+	1	346	c.321C>T	c.(319-321)ttC>ttT	p.F107F	LRRC43_uc001ubw.4_5'UTR|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	107										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AAGACAGTTTCCTGAGAGAAT	0.597000														43			4		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756928	94756928	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:94756928C>T	uc001yct.3	-	1	469	c.3G>A	c.(1-3)atG>atA	p.M1I	SERPINA10_uc001ycu.4_Missense_Mutation_p.M1I	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	1					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCACCACCTTCATGTGATCGG	0.597000														25			3		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227942690	227942690	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:227942690C>T	uc021vxr.1	-	23	2008	c.1907G>A	c.(1906-1908)gGt>gAt	p.G636D	COL4A4_uc021vxs.1_Missense_Mutation_p.G636D	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	636	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTGGTGGACCAGGAAATCC	0.567000														27			5		0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	635648	635648	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:635648C>T	uc003jbf.3	+	5	925	c.853C>T	c.(853-855)Cca>Tca	p.P285S	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	285					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGGAGCGGAGCCAGAGGCCTC	0.597000														73			7		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436086	158436086	+	Silent	SNP	C	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:158436086C>A	uc010pij.2	+	0	735	c.735C>A	c.(733-735)ctC>ctA	p.L245L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTCCCATCTCATTGTGGTAA	0.438000														66			7		5.68852e-11	5.78883e-11	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32476105	32476105	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:32476105G>A	uc002roi.3	-	3	1089	c.828C>T	c.(826-828)atC>atT	p.I276I	NLRC4_uc021vfq.1_Silent_p.I276I|NLRC4_uc002roj.2_Silent_p.I276I|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	276	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGTGGTGACGATGACCATGT	0.517000														109			15		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318615	31318615	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:31318615C>T	uc010dmg.1	+	10	1302	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	ASXL3_uc002kxq.2_Missense_Mutation_p.P123L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	416					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						TCTCCAGAGCCTGGTTTCTGT	0.453000														41			5		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169951	57169951	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:57169951C>T	uc001cyk.4	+	6	1167	c.1096C>T	c.(1096-1098)Cat>Tat	p.H366Y		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	366					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CCTGAAACCTCATCCAGAAAG	0.458000														64			9		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592675	156592675	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:156592675C>T	uc003lwn.3	-	0	605	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	169						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)			ACAAGTTTTTCCCAATAGCAA	0.498000														134			18		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112592422	112592422	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:112592422A>G	uc002thi.3	-	18	2390	c.2143T>C	c.(2143-2145)Tac>Cac	p.Y715H		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	715					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTCTGGTGGTAGTCTGAATTT	0.308000														32			7		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249686	52249686	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:52249686T>C	uc021uyn.1	-	2	708	c.562A>G	c.(562-564)Aaa>Gaa	p.K188E	FPR1_uc002pxq.3_Missense_Mutation_p.K188E|FPR1_uc021uyo.1_Missense_Mutation_p.K188E	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	188					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P187S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ATCCTCTCTTTAGGGTCGTTG	0.502000														91			8		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113742455	113742455	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:113742455C>T	uc002tio.1	+	4	408	c.339C>T	c.(337-339)ccC>ccT	p.P113P	IL36G_uc010fkr.1_Silent_p.P78P	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	113					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.P113P(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AACCCGAGCCCGTGAAACCCT	0.502000														87			12		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487038	20487038	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:20487038G>A	uc010bwe.3	+	8	1280	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	ACSM2A_uc010vax.1_Silent_p.E268E|ACSM2A_uc002dhf.4_Silent_p.E347E|ACSM2A_uc002dhg.4_Silent_p.E347E|ACSM2A_uc010vay.2_Silent_p.E268E|ACSM2A_uc002dhh.4_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	347					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.E347E(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAACTCTGGAGAACTGGAGGG	0.517000														160			12		0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373233	27373233	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:27373233G>A	uc010ylg.2	+	2	522	c.465_splice	c.e2+1	p.K155_splice		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	155					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCTCTCAAGGTAAGTCACA	0.622000														201			22		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				131			25		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126783338	126783338	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:126783338C>T	uc003kuh.4	+	21	3180	c.2818C>T	c.(2818-2820)Cct>Tct	p.P940S	MEGF10_uc003kui.4_Missense_Mutation_p.P940S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	940					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCCACATCCCCTCACGTCAA	0.527000														59			9		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44121814	44121814	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:44121814C>T	uc003owr.3	+	21	2179	c.2115C>T	c.(2113-2115)ttC>ttT	p.F705F	TMEM63B_uc003ows.3_Silent_p.F608F|TMEM63B_uc010jyz.3_Intron	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	705						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CACCAGGGTTCCTAGCTCCCA	0.552000														127			12		0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	60522612	60522612	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:60522612C>T	uc003dkx.4	-	4	455	c.84G>A	c.(82-84)agG>agA	p.R28R	FHIT_uc003dky.3_Silent_p.R28R|FHIT_uc010hnn.1_Silent_p.R28R	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	28	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CCACAGGTTTCCTATTCACAA	0.398000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3					38			7		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85954861	85954861	+	Silent	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:85954861C>T	uc002fjh.3	+	8	1311	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	418					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GATCATTTTTCAGAGAAAACC	0.582000														104			6		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34551103	34551103	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:34551103G>A	uc001zhw.3	-	3	618	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	SLC12A6_uc001zhv.3_Missense_Mutation_p.R101C|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.R137C|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.R93C|SLC12A6_uc001zib.3_Missense_Mutation_p.R143C|SLC12A6_uc001zic.3_Missense_Mutation_p.R152C|SLC12A6_uc010bau.3_Missense_Mutation_p.R152C|SLC12A6_uc001zid.3_Missense_Mutation_p.R93C|SLC12A6_uc001zhu.3_Missense_Mutation_p.R13C	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	152					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTGGCCATGCGGTTGAGGAGG	0.453000														75			12		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445648	10445648	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:10445648G>A	uc003gmn.3	-	2	2792	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S	ZNF518B_uc021xme.1_Missense_Mutation_p.P769S	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATTAACACTGGCGTGGCAACA	0.458000														54			6		0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96253237	96253237	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:96253237G>A	uc003kmq.3	+	18	3521	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.T937T|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.T886T|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	937					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTGGAAACGATAACCAAAA	0.343000														37			7		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101232634	101232634	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:101232634C>T	uc003yjh.2	+	12	1749	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	SPAG1_uc003yji.2_Nonsense_Mutation_p.Q555*	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	555					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CTGTGGACTCCAGCTAGCAAA	0.423000														116			13		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879168	209879168	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:209879168G>A	uc001hhj.3	+	2	233	c.101G>A	c.(100-102)gGa>gAa	p.G34E	HSD11B1_uc021pin.1_Missense_Mutation_p.G34E|HSD11B1_uc001hhk.3_Missense_Mutation_p.G34E	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	34					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	ATGCTCCAAGGAAAGAAAGTG	0.517000														81			8		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152832211	152832211	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:152832211C>T	uc021zhb.1	-	4	560	c.337G>A	c.(337-339)Gat>Aat	p.D113N	SYNE1_uc003qot.4_Missense_Mutation_p.D120N|SYNE1_uc003qou.4_Missense_Mutation_p.D113N|SYNE1_uc010kjb.1_Missense_Mutation_p.D113N|SYNE1_uc003qpa.1_Missense_Mutation_p.D113N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	113	Actin-binding.|CH 1.				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)		TCAGCTATATCGGTGGAGTTA	0.328000										HNSCC(10;0.0054)				140			20		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955134	30955134	+	Missense_Mutation	SNP	G	C	C	rs41288701		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:30955134G>C	uc003nsh.2	+	1	1433	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.E378D	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	394	28 X 15 AA approximate tandem repeats.|Ser-rich.			E -> D (in Ref. 3; AAQ88781 and 4; CAQ08321).		integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCACCTCTGAGTCCAGCACGA	0.622000														129			4		0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67479753	67479753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:67479753C>T	uc002aqj.3	+	7	1358	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	SMAD3_uc010ujr.2_Nonsense_Mutation_p.Q249*|SMAD3_uc010ujs.2_Nonsense_Mutation_p.Q310*|SMAD3_uc010ujt.2_Nonsense_Mutation_p.Q159*	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	354	MH2.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCTCCTGGCCCAGTCGGTCAA	0.572000														69			8		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115614248	115614248	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:115614248G>A	uc003vhj.2	-	2	496	c.243C>T	c.(241-243)gaC>gaT	p.D81D	TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Silent_p.D171D	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	81	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GCAGAGGAGAGTCTGCTCCTT	0.328000														52			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140767861C>T	uc003lkc.2	+	0	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	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_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	137	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)			ACGCAAAATTCCTTTGAGCTG	0.433000														35			5		0	0	1	0	0
MOB3C	148932	broad.mit.edu	37	1	47079024	47079024	+	Silent	SNP	G	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:47079024G>T	uc001cqe.4	-	1	183	c.126C>A	c.(124-126)gcC>gcA	p.A42A	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_5'UTR	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	0							metal ion binding										GCTGTCCAGGGGCTCGGACCT	0.627000														75			9		4.68919e-08	4.75988e-08	1	1	0
C1QC	714	broad.mit.edu	37	1	22974268	22974268	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:22974268C>T	uc001bgc.4	+	2	833	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	C1QC_uc001bga.4_Missense_Mutation_p.P244S	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	244	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	CCTGCTCTTCCCCGACTAGGG	0.627000														51			4		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	601394	601394	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:601394C>T	uc002chi.3	+	7	2522	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	720	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CATGCCTACTCCATCCTGGAT	0.662000														65			14		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795213	55795213	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:55795213G>A	uc010spl.2	+	0	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCTTAGGGAATTCACCAA	0.353000														33			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13891128	13891128	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:13891128T>C	uc003jfd.2	-	16	2576	c.2534A>G	c.(2533-2535)cAg>cGg	p.Q845R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	845	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)					TGGCTCCTCCTGGGGAAGCTG	0.413000									Kartagener syndrome					153			14		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003297	166003297	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:166003297C>T	uc002ucx.3	-	11	2115	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	SCN3A_uc002ucy.3_Missense_Mutation_p.M541I|SCN3A_uc002ucz.3_Missense_Mutation_p.M541I|SCN3A_uc002uda.1_Missense_Mutation_p.M410I|SCN3A_uc002udb.1_Missense_Mutation_p.M410I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	541						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGTTTCCATCCATGGAGAAAA	0.423000														114			18		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10648027	10648027	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:10648027A>G	uc010rcc.1	-	8	1240	c.854T>C	c.(853-855)aTt>aCt	p.I285T	MRVI1_uc010rcb.1_Missense_Mutation_p.I277T|MRVI1_uc001miw.2_Missense_Mutation_p.I276T|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.I194T|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	258					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTATTGCAATCTCTTTGGA	0.532000														21			6		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678271	65678271	+	Silent	SNP	G	A	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:65678271G>A	uc002aou.1	-	17	3288	c.3078C>T	c.(3076-3078)ccC>ccT	p.P1026P	IGDCC4_uc002aot.1_Silent_p.P614P	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1026						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						ACCAGTCCTGGGGATGGGGGT	0.652000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216757	3216757	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:3216757C>T	uc022aqr.1	-	20	3611	c.3221G>A	c.(3220-3222)gGa>gAa	p.G1074E	CSMD1_uc011kwj.2_Missense_Mutation_p.G467E|CSMD1_uc003wqe.3_Missense_Mutation_p.G231E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1075	Sushi 6.					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)		TAAACGATATCCCAGGAAGCA	0.567000														69			5		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10239579	10239580	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:10239579_10239580CC>TT	uc021ogc.1	+	27	4647_4648	c.3959_3960CC>TT	c.(3958-3960)ccc>cTT	p.P1320L	UBE4B_uc001aqs.4_Missense_Mutation_p.P1269L|UBE4B_uc001aqr.4_Missense_Mutation_p.P1140L|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.P724L|UBE4B_uc001aqu.3_Missense_Mutation_p.P150L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1269					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCCACGGACCCCTTCAACCGGC	0.609000														97			5		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73019753	73019753	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:73019753delG	uc001otu.3	+	0	91	c.70delG	c.(70-72)ggcfs	p.G24fs	ARHGEF17_uc021qnc.1_Frame_Shift_Del_p.G24fs	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	24					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCGCTGGAGCGGCGGCCCCGG	0.751													---	4	---	---	2	---					
NEO1	4756	broad.mit.edu	37	15	73345062	73345062	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:73345062delT	uc002avm.4	+	0	238	c.46delT	c.(46-48)ttcfs	p.F16fs	NEO1_uc010ukx.2_Frame_Shift_Del_p.F16fs|NEO1_uc010uky.2_Frame_Shift_Del_p.F16fs|NEO1_uc002avn.4_Frame_Shift_Del_p.F16fs|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	16					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CACCCCCTCCTTCTGGCTCTA	0.781													---	4	---	---	2	---