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
IRS1	3667	broad.mit.edu	37	2	227662451	227662451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:227662451G>A	uc021vxn.1	-	0	1004	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I	IRS1_uc002voh.4_Missense_Mutation_p.T335I	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	335	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCGGGACATGGTGCCTTCGCC	0.716000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			46		0	0	0.003610	0	0
APTX	54840	broad.mit.edu	37	9	32987831	32987831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:32987831G>A	uc003zry.3	-	3	273	c.236C>T	c.(235-237)cCc>cTc	p.P79L	APTX_uc022bfi.1_Missense_Mutation_p.P65L|APTX_uc003zrm.3_Missense_Mutation_p.P65L|APTX_uc003zrj.3_5'UTR|APTX_uc003zrl.3_Intron|APTX_uc011lns.2_Intron|APTX_uc003zrn.3_5'UTR|APTX_uc003zro.3_Missense_Mutation_p.P65L|APTX_uc003zrp.3_5'UTR|APTX_uc003zrr.3_Intron|APTX_uc003zrq.3_5'UTR|APTX_uc003zrs.3_Missense_Mutation_p.P65L|APTX_uc003zsb.2_Intron|APTX_uc003zru.3_Intron|APTX_uc022bfj.1_Missense_Mutation_p.P79L|APTX_uc003zrx.3_Missense_Mutation_p.P65L|APTX_uc003zrw.3_Missense_Mutation_p.P79L|APTX_uc003zrv.3_Missense_Mutation_p.P79L|APTX_uc003zrt.3_5'UTR|APTX_uc003zsa.1_Intron|APTX_uc003zsc.2_Intron	NM_001195248	NP_001182177	Q7Z2E3	APTX_HUMAN	Homo sapiens aprataxin (APTX), transcript variant 6, mRNA.	79	FHA-like.|Interactions with ADPRT and NCL.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	DNA 5'-adenosine monophosphate hydrolase activity|chromatin binding|damaged DNA binding|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		AATGCTGGTGGGATTGACTCC	0.403000								Editing and processing nucleases						3			18		0	0	0.004990	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000														58			5		0	0	0.000602	0	0
IL1F10	84639	broad.mit.edu	37	2	113832866	113832866	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:113832866C>T	uc002tiu.3	+	4	459	c.384C>T	c.(382-384)ccC>ccT	p.P128P	IL1F10_uc002tiv.3_Silent_p.P128P|IL1F10_uc002tiw.3_Silent_p.P120P	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	128						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CGGCAGAGCCCCAGCAGCCAG	0.597000														49			28		0	0	0.007291	0	0
DNAH5	1767	broad.mit.edu	37	5	13769713	13769713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:13769713C>T	uc003jfd.2	-	56	9659	c.9617G>A	c.(9616-9618)gGa>gAa	p.G3206E	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3206	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTCCAATCCAGTATTCAT	0.418000									Kartagener syndrome					10			48		0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70954578	70954578	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:70954578G>A	uc002ezr.3	-	45	7849	c.7698C>T	c.(7696-7698)ccC>ccT	p.P2566P		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2567										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTCTAGGAAGGGTACGCCCA	0.607000														2			4		0	0	0.000602	0	0
TMEM206	55248	broad.mit.edu	37	1	212560296	212560296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:212560296C>T	uc010pte.2	-	3	631	c.463G>A	c.(463-465)Gag>Aag	p.E155K	TMEM206_uc001hjc.4_Missense_Mutation_p.E94K	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	94						integral to membrane		p.I154I(2)|p.E94*(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGAGTTTCTCACGAAAGTCT	0.557000														148			55		0	0	0.003610	0	0
C1orf177	163747	broad.mit.edu	37	1	55277557	55277557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:55277557G>A	uc001cyb.4	+	4	625	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	C1orf177_uc001cya.4_Missense_Mutation_p.G191S	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	191										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCATTCCGAGGGCCTCATGTG	0.607000														4			19		0	0	0.008871	0	0
GRID2	2895	broad.mit.edu	37	4	94137897	94137897	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:94137897C>T	uc011cdt.2	+	5	1056	c.798C>T	c.(796-798)aaC>aaT	p.N266N	GRID2_uc010ikx.3_Silent_p.N266N|GRID2_uc011cdu.2_Silent_p.N171N|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	266					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGAAATAAACGATGTGGACG	0.373000														44			33		0	0	0.003755	0	0
NPHS1	4868	broad.mit.edu	37	19	36322264	36322264	+	Silent	SNP	C	T	T	rs115670171	by1000genomes	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:36322264C>T	uc002oby.3	-	25	3477	c.3321G>A	c.(3319-3321)gaG>gaA	p.E1107E	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1107					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.E1107D(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACTCGGTCCTCTTCCGACC	0.587000														51			40		0	0	0.006230	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		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.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(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)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				10			88		3.11363e-52	4.61757e-52	0.003610	1	0
RFWD2	64326	broad.mit.edu	37	1	175957522	175957522	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:175957522C>G	uc001gku.1	-	16	2130	c.1874G>C	c.(1873-1875)tGg>tCg	p.W625S	RFWD2_uc001gkv.1_Missense_Mutation_p.W601S|RFWD2_uc001gkw.1_Missense_Mutation_p.W385S|RFWD2_uc009wwv.2_Missense_Mutation_p.W424S|RFWD2_uc001gkt.1_Missense_Mutation_p.W464S	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	625					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCTACATTCCACAGTTTTAG	0.393000														32			11		0	0	0.008291	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299290	125299290	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:125299290G>A	uc004euk.2	-	0	791	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	206								p.T206T(3)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCACAGCTACGGTGTCACTCA	0.657000														3			21		0	0	0.001523	0	0
C12orf50	160419	broad.mit.edu	37	12	88379718	88379718	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:88379718G>A	uc001tam.1	-	10	1203	c.1035C>T	c.(1033-1035)gtC>gtT	p.V345V	C12orf50_uc001tan.3_Silent_p.V360V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	345										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CATTCAACGCGACAGTCCTGA	0.483000														55			42		0	0	0.003214	0	0
C17orf77	146723	broad.mit.edu	37	17	72588331	72588331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:72588331G>A	uc002jla.1	+	2	508	c.146G>A	c.(145-147)gGa>gAa	p.G49E	CD300LD_uc002jkz.2_Missense_Mutation_p.S4F|C17orf77_uc021ucq.1_Missense_Mutation_p.G49E	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	49						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CAGAGATGGGGACAGCCACAT	0.562000														25			39		0	0	0.004878	0	0
MST1R	4486	broad.mit.edu	37	3	49928866	49928866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:49928866C>T	uc003cxy.4	-	15	3764	c.3500G>A	c.(3499-3501)gGt>gAt	p.G1167D	MST1R_uc011bdc.2_Missense_Mutation_p.G1118D	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1167	Protein kinase.				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)		GAGCAGGTCACCGTGGCACAT	0.607000														28			18		0	0	0.004990	0	0
IL27RA	9466	broad.mit.edu	37	19	14157020	14157020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:14157020C>T	uc002mxx.3	+	6	1246	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	275					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGTTGGAGGTCGTGAGCTGAG	0.577000														104			90		0	0	0.003610	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326684	64326684	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:64326684C>T	uc001oai.3	+	1	845	c.471C>T	c.(469-471)tcC>tcT	p.S157S	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.S157S|SLC22A11_uc001oak.1_5'Flank	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	157					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGGTGGGCTCCTTTATCTGGG	0.602000														29			20		0	0	0.001523	0	0
KIAA1009	22832	broad.mit.edu	37	6	84896291	84896291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:84896291G>A	uc010kbp.3	-	11	1257	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	KIAA1009_uc003pkj.4_Missense_Mutation_p.P311L|KIAA1009_uc003pkk.2_Missense_Mutation_p.P387L|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	387					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATCTTCAGGGGTAAAGAGCT	0.338000														8			30		0	0	0.006320	0	0
AKT2	208	broad.mit.edu	37	19	40747936	40747936	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:40747936C>A	uc002onf.3	-	5	781	c.482G>T	c.(481-483)gGa>gTa	p.G161V	AKT2_uc010egs.3_Missense_Mutation_p.G161V|AKT2_uc010xvj.2_Missense_Mutation_p.G99V|AKT2_uc010egt.3_Missense_Mutation_p.G99V|AKT2_uc010egu.2_Missense_Mutation_p.G99V|AKT2_uc010xvk.1_Missense_Mutation_p.G161V|AKT2_uc002one.3_Missense_Mutation_p.G57V	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	161	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCCAAAGGTTCCCTTGCCAAG	0.582000			A		"""ovarian, pancreatic """									94			64		1.55545e-33	2.28948e-33	0.003610	1	0
OR11L1	391189	broad.mit.edu	37	1	248004239	248004239	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:248004239G>A	uc001idn.1	-	0	960	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F320F(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTAATAAAGGAACTTCCTTT	0.363000														2			42		0	0	0.003610	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833125	24833125	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:24833125G>A	uc001iru.4	+	18	5329	c.4926G>A	c.(4924-4926)gaG>gaA	p.E1642E	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.E1325E|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.E478E	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1642					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAGGCAAGAGCAGCCCAGCA	0.473000														3			23		0	0	0.001882	0	0
SP140	11262	broad.mit.edu	37	2	231150502	231150502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:231150502G>A	uc002vql.3	+	16	1715	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.E420K|SP140_uc002vqm.3_Missense_Mutation_p.E474K|SP140_uc010fxl.3_Missense_Mutation_p.E507K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	534					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTCTCCAGTGAAAAGAAGGC	0.458000														60			43		0	0	0.003610	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19704416	19704416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:19704416G>A	uc002ykw.3	-	13	1670	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	547	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCCAGATTAGGGTAGCTGTTT	0.418000														38			27		0	0	0.001786	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519363	28519363	+	RNA	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:28519363G>A	uc001uru.3	+	0		c.21G>A								Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA.											ovary(1)	1						GAGTCTTGGCGATTTGGCCCG	0.502000														9			4		0	0	0.000248	0	0
TCF20	6942	broad.mit.edu	37	22	42607026	42607026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:42607026G>A	uc003bcj.1	-	0	4420	c.4286C>T	c.(4285-4287)cCt>cTt	p.P1429L	TCF20_uc003bck.1_Missense_Mutation_p.P1429L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTTGGAAGAGGTTTCTCTAC	0.517000														68			70		0	0	0.003610	0	0
ATF6B	1388	broad.mit.edu	37	6	32087646	32087646	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:32087646G>A	uc003nzn.3	-	8	954	c.921C>T	c.(919-921)atC>atT	p.I307I	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.3_Silent_p.I304I|ATF6B_uc003nzp.1_5'UTR	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	307					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GAGCGGGAACGATGCTCTTCC	0.592000														211			96		0	0	0.003610	0	0
GBA2	57704	broad.mit.edu	37	9	35740240	35740240	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:35740240T>C	uc011lpd.2	-	7	1766	c.1267A>G	c.(1267-1269)Atc>Gtc	p.I423V	GBA2_uc003zxw.3_Missense_Mutation_p.I417V|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Missense_Mutation_p.I417V|GBA2_uc011lpc.1_Missense_Mutation_p.I417V|GBA2_uc003zxy.1_Missense_Mutation_p.I130V	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	417					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAAACATGATCCTGGGCATG	0.552000														3			20		0	0	0.001523	0	0
SLFN11	91607	broad.mit.edu	37	17	33690173	33690173	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:33690173G>A	uc002hjg.4	-	1	901	c.654C>T	c.(652-654)ttC>ttT	p.F218F	SLFN11_uc010ctr.3_Silent_p.F218F|SLFN11_uc010ctp.3_Silent_p.F218F|SLFN11_uc010ctq.3_Silent_p.F218F|SLFN11_uc002hjh.4_Silent_p.F218F	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	218						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTTTGTAGAGAACTGTTTAA	0.388000														37			29		0	0	0.008361	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369679	77369679	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:77369679G>A	uc002ffc.4	-	11	2252	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	ADAMTS18_uc010chc.1_Silent_p.F199F|ADAMTS18_uc002ffe.1_Silent_p.F307F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	611	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTCTCTCCTGGAACTTGACTC	0.542000														13			72		0	0	0.003610	0	0
LRIT2	340745	broad.mit.edu	37	10	85982013	85982013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:85982013G>A	uc010qmc.2	-	3	1354	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	LRIT2_uc001kcy.3_Missense_Mutation_p.P439L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	439	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CTGGTGTGGAGGCTGGCCCTC	0.557000														9			36		0	0	0.003610	0	0
BLK	640	broad.mit.edu	37	8	11400814	11400814	+	Silent	SNP	G	A	A	rs149279535	byFrequency	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:11400814G>A	uc003wty.3	+	1	662	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	27					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCCCCCTGAAGGTCAGCGCCC	0.567000														11			9		0	0	0.008291	0	0
LILRB4	11006	broad.mit.edu	37	19	55176268	55176268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:55176268G>A	uc002qgp.3	+	4	1036	c.674G>A	c.(673-675)aGg>aAg	p.R225K	LILRB4_uc002qgq.3_Missense_Mutation_p.R225K|LILRB4_uc010ers.1_Missense_Mutation_p.R138K|LILRB4_uc010ert.3_Missense_Mutation_p.R266K|LILRB4_uc010eru.3_Missense_Mutation_p.R254K	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	225						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGGATCCCAGGCCCTCACCC	0.557000														11			9		0	0	0.008291	0	0
MIR557	693142	broad.mit.edu	37	1	168344763	168344763	+	Splice_Site	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:168344763G>A	uc021pel.1	+	1		c.1_splice	c.e1-1							Homo sapiens microRNA 557 (MIR557), microRNA.																		TGTGCAGACAGAATGGGCAAA	0.547000														8			240		0	0	0.003610	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703668	103703668	+	Missense_Mutation	SNP	G	A	A	rs143059000		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:103703668G>A	uc001vpy.4	-	3	1297	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	234					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCCGCCACAGGAAATATTGTT	0.463000														31			16		0	0	0.002780	0	0
PSG4	5672	broad.mit.edu	37	19	43699306	43699306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:43699306C>T	uc002ovy.3	-	3	931	c.829G>A	c.(829-831)Ggt>Agt	p.G277S	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.G184S	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	277	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGCTCTGACCATTTAGCCAC	0.438000														129			103		0	0	0.003610	0	0
PAG1	55824	broad.mit.edu	37	8	81897151	81897151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:81897151G>A	uc003ybz.3	-	6	1447	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA.	246					T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAATTTCCAAGGATACTCTCT	0.498000														51			37		0	0	0.006230	0	0
FGF7	2252	broad.mit.edu	37	15	49776684	49776684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr15:49776684C>T	uc001zxn.3	+	3	1097	c.568C>T	c.(568-570)Cct>Tct	p.P190S	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	190					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	CCACTTTCTTCCTATGGCAAT	0.363000														5			6		0	0	0.001168	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647758	51647759	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:51647758_51647759GG>AA	uc002pvv.1	+	1	598_599	c.529_530GG>AA	c.(529-531)ggg>AAg	p.G177K	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	177	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.G177G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGTGAGCAGGGGACGCCCCCT	0.644000														64			35		0	0	0.004672	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890499	2890499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:2890499C>T	uc003mug.3	-	6	1150	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Missense_Mutation_p.M146I	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	343					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	p.C342C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GGCCAGATTCCATGCAGCACT	0.532000														49			23		0	0	0.003330	0	0
TRRAP	8295	broad.mit.edu	37	7	98547816	98547816	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:98547816G>A	uc003upp.3	+	36	5453	c.5244G>A	c.(5242-5244)caG>caA	p.Q1748Q	TRRAP_uc011kis.2_Silent_p.Q1730Q|TRRAP_uc003upr.3_Silent_p.Q1447Q	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1748					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCATCGCTCAGAAACGTGCCC	0.438000														4			26		0	0	0.003954	0	0
MARCO	8685	broad.mit.edu	37	2	119750702	119750702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:119750702G>A	uc002tln.1	+	15	1387	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	MARCO_uc010yyf.1_Missense_Mutation_p.E341K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	419	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						TCACCCAGGTGAAAACTCAGT	0.517000														33			40		0	0	0.002522	0	0
DHX35	60625	broad.mit.edu	37	20	37653908	37653908	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:37653908C>T	uc002xjh.3	+	17	1737	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	DHX35_uc010zwa.2_Silent_p.F414F|DHX35_uc010zwc.2_Silent_p.F538F|DHX35_uc010zwb.2_Silent_p.F414F	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	569						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGGAACATTTCCTGAATTACA	0.418000														84			71		0	0	0.003610	0	0
SALL2	6297	broad.mit.edu	37	14	21993037	21993037	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:21993037G>A	uc001wbe.3	-	1	1107	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SALL2_uc010tly.2_Silent_p.F273F|SALL2_uc010tlz.1_Silent_p.F138F|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.F140F|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	275							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGTAAAGGTGGAAGAAGGCCT	0.602000														16			11		0	0	0.001368	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965004	119965004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:119965004G>A	uc001ehs.3	+	2	1653	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	HSD3B2_uc021ost.1_Missense_Mutation_p.G294S|HSD3B2_uc001eht.3_Missense_Mutation_p.G294S|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	294			G -> V (in AH2; nonsalt-wasting form; activity abolished).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GTACTGGATTGGCTTCCTGCT	0.463000														31			86		0	0	0.003610	0	0
SIDT2	51092	broad.mit.edu	37	11	117063910	117063910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:117063910C>T	uc001pqg.2	+	23	2251	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F	SIDT2_uc010rxe.1_Missense_Mutation_p.S716F|SIDT2_uc001pqh.1_Missense_Mutation_p.S716F|SIDT2_uc001pqi.1_Missense_Mutation_p.S713F	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	716						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GATTTCGCTTCCTACTTGTTG	0.557000														215			149		0	0	0.003610	0	0
MYO1E	4643	broad.mit.edu	37	15	59466433	59466433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr15:59466433G>A	uc002aga.3	-	19	2428	c.2056C>T	c.(2056-2058)Ctt>Ttt	p.L686F	MIR2116_uc021smy.1_5'Flank	NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	686					actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TCTTCTAAAAGAAATAGCTGT	0.438000														45			37		0	0	0.006230	0	0
LCE1B	353132	broad.mit.edu	37	1	152785266	152785266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:152785266G>A	uc001faq.3	+	0	820	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	115	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCACTCTGGAGGCTGCTGC	0.602000														8			85		0	0	0.003610	0	0
KCNH3	23416	broad.mit.edu	37	12	49938070	49938070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:49938070C>T	uc001ruh.1	+	6	1354	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	KCNH3_uc010smj.1_Missense_Mutation_p.A305V	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	365					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGCTCATGGCCGTGTTCGCC	0.642000														10			7		0	0	0.001984	0	0
DYRK4	8798	broad.mit.edu	37	12	4705316	4705316	+	Splice_Site	SNP	T	C	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:4705316T>C	uc009zeh.1	+	7	670	c.628_splice	c.e7-1	p.V210_splice	DYRK4_uc001qmx.3_Splice_Site_p.V95_splice|DYRK4_uc001qmy.2_Splice_Site_p.V95_splice|DYRK4_uc021qtq.1_Splice_Site	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	95	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTTCCACAGGTCCTGCATGAT	0.552000														66			40		0	0	0.008740	0	0
FAM188B	84182	broad.mit.edu	37	7	30880436	30880436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:30880436G>A	uc003tbt.3	+	8	1494	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	FAM188B_uc010kwe.3_Missense_Mutation_p.E444K	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	473										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCCTGTTTGAAGGAGATAG	0.498000														27			20		0	0	0.001882	0	0
SDPR	8436	broad.mit.edu	37	2	192701344	192701344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:192701344C>T	uc002utb.3	-	1	938	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	195						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGCAGGGTTTCCTCCAGGGAT	0.557000														25			17		0	0	0.006122	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272445	11272445	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:11272445C>T	uc021tcy.1	+	23	3290	c.3060C>T	c.(3058-3060)agC>agT	p.S1020S	CLEC16A_uc002dao.3_Silent_p.S1018S|CLEC16A_uc002dap.3_Silent_p.S107S	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	1020								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCTCCGCAGCCTCACCGGCA	0.687000														12			7		0	0	0.001984	0	0
PLCE1	51196	broad.mit.edu	37	10	96084290	96084290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:96084290G>A	uc001kjk.3	+	30	7320	c.6686G>A	c.(6685-6687)gGa>gAa	p.G2229E	PLCE1_uc010qnx.2_Missense_Mutation_p.G2213E|PLCE1_uc001kjm.3_Missense_Mutation_p.G1921E|PLCE1_uc001kjp.3_Missense_Mutation_p.G587E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	2229	Ras-associating 2.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.G2229K(1)|p.G1921K(1)|p.G1921E(1)|p.G2229E(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGGTGCAGGAAAATTCATC	0.433000														12			46		0	0	0.003610	0	0
CABP4	57010	broad.mit.edu	37	11	67223192	67223192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:67223192C>T	uc001olo.3	+	0	375	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_5'UTR	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	100					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACCGACATCGTCCTGACTC	0.677000														9			6		0	0	0.001168	0	0
ANKRD9	122416	broad.mit.edu	37	14	102973339	102973340	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:102973339_102973340GG>AA	uc001ylz.1	-	3	1484_1485	c.887_888CC>TT	c.(886-888)ccc>cTT	p.P296L	ANKRD9_uc001ylx.1_Missense_Mutation_p.P296L|ANKRD9_uc001yma.1_Missense_Mutation_p.P296L|ANKRD9_uc021sec.1_Missense_Mutation_p.P296L	NM_152326	NP_689539	Q96BM1	ANKR9_HUMAN	Homo sapiens ankyrin repeat domain 9 (ANKRD9), mRNA.	296										pancreas(1)|skin(1)	2						CCAGGGCCTCGGGGAAGCGGCC	0.688000														13			4		0	0	0.004672	0	0
PARM1	25849	broad.mit.edu	37	4	75937934	75937934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:75937934G>A	uc003hih.2	+	1	596	c.343G>A	c.(343-345)Gga>Aga	p.G115R		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	115					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane		p.G114S(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AACAAGCGGTGGAGTCCACTT	0.567000														57			30		0	0	0.007291	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520828	69520828	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:69520828G>A	uc021xow.1	-	3	1236	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	360					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGGTCATTCTGGGGTAACCAC	0.358000														147			8		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9047148	9047148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9047148G>A	uc002mkp.3	-	4	34687	c.34483C>T	c.(34483-34485)Cct>Tct	p.P11495S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11497	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGCAGGATGAATGAGC	0.512000														61			43		0	0	0.003214	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471508	61471508	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:61471508G>A	uc002ljl.3	+	7	878	c.782G>A	c.(781-783)tGg>tAg	p.W261*	SERPINB7_uc002ljm.3_Nonsense_Mutation_p.W261*|SERPINB7_uc010xet.2_Nonsense_Mutation_p.W244*|SERPINB7_uc010dqg.3_Nonsense_Mutation_p.W261*	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	261					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.W261C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTAATGGAATGGACCAATCCA	0.318000														24			14		0	0	0.004007	0	0
GPR98	84059	broad.mit.edu	37	5	90050985	90050985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:90050985G>A	uc003kju.3	+	54	11659	c.11563G>A	c.(11563-11565)Gaa>Aaa	p.E3855K	GPR98_uc003kjt.3_Missense_Mutation_p.E1561K|GPR98_uc003kjv.3_Missense_Mutation_p.E1455K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3855	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.E3855K(4)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCTCATGCCGAAGTTTCCAT	0.313000														1			6		0	0	0.001168	0	0
GPR45	11250	broad.mit.edu	37	2	105858805	105858805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:105858805G>A	uc002tco.1	+	0	606	c.490G>A	c.(490-492)Ggg>Agg	p.G164R		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	164						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTGCATCGCGGGGCCCTCGCT	0.697000														12			8		0	0	0.006214	0	0
TPTE	7179	broad.mit.edu	37	21	10996137	10996137	+	RNA	SNP	T	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:10996137T>A	uc002yis.1	-	11		c.2049A>T						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATCCACCAATACCTATCCAA	0.378000														23			17		0	0	0.004007	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806693	6806693	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:6806693G>A	uc001mer.2	+	0	446	c.425G>A	c.(424-426)tGg>tAg	p.W142*		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGAGCCTGCTGGCTCATGGTG	0.542000														27			28		0	0	0.008361	0	0
ABCA13	154664	broad.mit.edu	37	7	48312755	48312755	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:48312755A>T	uc003toq.2	+	16	3516	c.3492A>T	c.(3490-3492)ttA>ttT	p.L1164F	ABCA13_uc010kyr.2_Missense_Mutation_p.L667F|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1164					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATCTCAATTATTTAAGTTTG	0.378000														37			11		0	0	0.000978	0	0
SCN10A	6336	broad.mit.edu	37	3	38760281	38760281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:38760281C>T	uc003ciq.3	-	19	3544	c.3544G>A	c.(3544-3546)Gtg>Atg	p.V1182M		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1182					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAAGCTTTCACCGTGGGCTTC	0.517000														21			19		0	0	0.001523	0	0
MBD4	8930	broad.mit.edu	37	3	129152700	129152700	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:129152700C>T	uc003emh.1	-	4	1580	c.1404G>A	c.(1402-1404)cgG>cgA	p.R468R	MBD4_uc003emi.1_Silent_p.R468R|MBD4_uc003emj.1_Silent_p.R462R|MBD4_uc003emk.1_Silent_p.R150R|MBD4_uc011bkw.1_Silent_p.R468R	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	468					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AACCTGAGGTCCGATTGAGAA	0.413000								Base excision repair (BER), DNA glycosylases						31			16		0	0	0.004007	0	0
LYPD6	130574	broad.mit.edu	37	2	150327209	150327209	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:150327209T>C	uc002txa.3	+	5	708	c.361T>C	c.(361-363)Tgt>Cgt	p.C121R	LYPD6_uc021vqt.1_Missense_Mutation_p.C121R|LYPD6_uc002twy.3_Missense_Mutation_p.C121R|LYPD6_uc010fnt.3_Non-coding_Transcript|LYPD6_uc002twz.3_Non-coding_Transcript	NM_194317	NP_919298	Q86Y78	LYPD6_HUMAN	Homo sapiens LY6/PLAUR domain containing 6 (LYPD6), transcript variant 2, mRNA.	121	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		CTGCACTTCTTGTTGTGAAGG	0.468000														48			23		0	0	0.004656	0	0
RTN2	6253	broad.mit.edu	37	19	45996532	45996532	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:45996532G>A	uc002pcb.3	-	4	1149	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	307						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGGCCCCTTTGGACCCAGCCA	0.552000														41			35		0	0	0.005524	0	0
RFFL	117584	broad.mit.edu	37	17	33343492	33343492	+	Silent	SNP	G	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:33343492G>T	uc010cti.1	-	4	1025	c.801C>A	c.(799-801)atC>atA	p.I267I	RFFL_uc002hiq.2_Silent_p.I178I|RFFL_uc002him.1_Silent_p.I261I|RFFL_uc002hin.1_Silent_p.I261I|RFFL_uc002hip.2_Silent_p.I233I|RFFL_uc002hio.2_Silent_p.I261I	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	261					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGCGAGCCAAGATCTCTTTCA	0.552000														80			54		4.60343e-24	6.75055e-24	0.003610	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200826983	200826983	+	Silent	SNP	C	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:200826983C>A	uc001gvl.3	+	17	4536	c.4266C>A	c.(4264-4266)atC>atA	p.I1422I	CAMSAP2_uc001gvk.3_Silent_p.I1411I|CAMSAP2_uc001gvm.3_Silent_p.I1395I	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1422	CKK.					cytoplasm|microtubule	protein binding										CTGAAGAAATCAATAAACTGA	0.368000														62			32		1.13719e-10	1.6614e-10	0.008361	1	0
TMEM50A	23585	broad.mit.edu	37	1	25679448	25679448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:25679448G>A	uc001bke.3	+	4	522	c.350G>A	c.(349-351)gGa>gAa	p.G117E	TMEM50A_uc010oeq.2_Intron|TMEM50A_uc009vrr.3_Non-coding_Transcript|TMEM50A_uc009vrs.3_Intron	NM_014313	NP_055128	O95807	TM50A_HUMAN	Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.	117						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		ATTCTTTTTGGAGGTTATGTT	0.328000														2			47		0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48602893	48602893	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:48602893G>C	uc003ctz.2	-	114	8478	c.8477C>G	c.(8476-8478)tCc>tGc	p.S2826C	UCN2_uc003cty.1_5'Flank|UCN2_uc021wxo.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2826	Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G2825D(1)		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)		ATGGAGCTGGGAGCCGGCAGT	0.652000														7			8		0	0	0.004482	0	0
DUSP27	92235	broad.mit.edu	37	1	167095469	167095469	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:167095469G>A	uc001geb.1	+	4	1117	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	367					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGTCCCCCAGGATGGAGGTG	0.637000														0			18		0	0	0.008871	0	0
DNAH3	55567	broad.mit.edu	37	16	20975188	20975188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:20975188C>T	uc010vbe.2	-	52	10018	c.10018G>A	c.(10018-10020)Gag>Aag	p.E3340K	DNAH3_uc010vbd.2_Missense_Mutation_p.E775K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3340					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCAGTTCCTCGCTCTTCGTG	0.478000														63			38		0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179469027	179469027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:179469027C>T	uc021vsy.1	-	230	46908	c.46683G>A	c.(46681-46683)tgG>tgA	p.W15561*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W9256*|TTN_uc021vta.1_Nonsense_Mutation_p.W9189*|TTN_uc021vtb.1_Nonsense_Mutation_p.W9064*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16488	Fibronectin type-III 13.						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)			GGATAAGTTTCCAGATCTAGA	0.338000														17			9		0	0	0.006214	0	0
FAM194A	131831	broad.mit.edu	37	3	150384710	150384710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:150384710G>A	uc003eyg.3	-	12	1649	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	FAM194A_uc003eyh.3_Missense_Mutation_p.P385L	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	531										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACAAAGGGTGAGGAAGT	0.408000														50			32		0	0	0.001786	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165420	134165420	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:134165420C>T	uc004cal.2	+	0	340	c.36C>T	c.(34-36)gaC>gaT	p.D12D		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 3 (PPAPDC3), mRNA.	12						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GTGCCCGGGACCGCAACAACG	0.706000														11			7		0	0	0.001984	0	0
HTA	283902	broad.mit.edu	37	16	73127079	73127079	+	RNA	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:73127079G>A	uc010vmq.2	+	1		c.737G>A								Homo sapiens uncharacterized LOC283902 (HTA), non-coding RNA.																		AGAGGTTTTCGGGAAACTCTG	0.532000														1			7		0	0	0.001984	0	0
CACNA1A	773	broad.mit.edu	37	19	13419008	13419008	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:13419008G>A	uc002mwy.3	-	13	2075	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	CACNA1A_uc010dzc.2_Silent_p.I139I|CACNA1A_uc010xnd.2_Silent_p.I613I|CACNA1A_uc021ups.1_Silent_p.I613I|CACNA1A_uc010xne.2_Silent_p.I613I|CACNA1A_uc010dze.2_Silent_p.I613I|CACNA1A_uc021upt.1_Silent_p.I614I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	614					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACAGGCTGATGATGGACTTCA	0.547000														16			13		0	0	0.003163	0	0
UGT2B17	7367	broad.mit.edu	37	4	69417557	69417557	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:69417557G>A	uc021xov.1	-	3	1121	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	360					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AGGTCATTCTGGGGTAACCAC	0.343000														62			32		0	0	0.004878	0	0
SI	6476	broad.mit.edu	37	3	164733000	164733000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:164733000C>T	uc003fei.3	-	32	3973	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1304	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTTGTTTCATTTCCTGAA	0.353000										HNSCC(35;0.089)				16			13		0	0	0.001855	0	0
HDAC11	79885	broad.mit.edu	37	3	13538321	13538321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:13538321C>T	uc003bxy.3	+	3	471	c.338C>T	c.(337-339)cCc>cTc	p.P113L	HDAC11_uc010heb.3_Missense_Mutation_p.P85L|HDAC11_uc011aux.2_Intron|HDAC11_uc011auy.2_Missense_Mutation_p.P62L	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	113	Histone deacetylase.			P -> A (in Ref. 3).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GTGCTGAGGCCCCTTCGGACC	0.597000											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			15		0	0	0.004007	0	0
OR8G2	26492	broad.mit.edu	37	11	124095983	124095983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:124095983C>T	uc010saf.2	+	0	586	c.586C>T	c.(586-588)Cct>Tct	p.P196S		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	196						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGATCTCTTCCCTCTCTTGGG	0.433000														95			61		0	0	0.003610	0	0
ADARB1	104	broad.mit.edu	37	21	46596439	46596439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:46596439G>A	uc002zgy.2	+	3	1258	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.E275K|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.E275K|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.E275K|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.E324K	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	275	DRBM 2.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCAGTTCTTTGAAGGCTCGGG	0.577000														30			30		0	0	0.008361	0	0
NBR1	4077	broad.mit.edu	37	17	41343555	41343555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:41343555C>T	uc010whv.2	+	9	1113	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	NBR1_uc010czd.3_Missense_Mutation_p.P344S|NBR1_uc010diz.3_Missense_Mutation_p.P344S|NBR1_uc010whu.2_Missense_Mutation_p.P344S|NBR1_uc010whw.2_Missense_Mutation_p.P323S|NBR1_uc010whx.1_Missense_Mutation_p.P153S	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	344					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCCCAAGTCTCCTTTAGGCCG	0.488000														17			4		0	0	0.000602	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	A	A	rs121913388		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:21971120G>A	uc003zpk.3	-	1	544	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.T79T(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				15			69		0	0	0.003610	0	0
TLR6	10333	broad.mit.edu	37	4	38829058	38829058	+	Silent	SNP	G	A	A	rs56107625		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:38829058G>A	uc010ifg.2	-	1	2158	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	TLR6_uc003gtm.3_Silent_p.V679V	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	679	TIR.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTGCCAGGGACAAAGTTTC	0.393000														41			26		0	0	0.004656	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964637	119964637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:119964637G>A	uc001ehs.3	+	2	1286	c.513G>A	c.(511-513)tgG>tgA	p.W171*	HSD3B2_uc021ost.1_Nonsense_Mutation_p.W171*|HSD3B2_uc001eht.3_Nonsense_Mutation_p.W171*|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	171					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTAATGGGTGGAATCTAAAAA	0.493000														74			24		0	0	0.002299	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525945	176525945	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:176525945C>T	uc001gkz.3	+	1	1651	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.Q163*|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	163					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCGGGATTCAGAAAGGCTC	0.547000														8			67		0	0	0.003610	0	0
FBXO10	26267	broad.mit.edu	37	9	37515909	37515909	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:37515909G>A	uc004aac.3	-	9	2816	c.2736C>T	c.(2734-2736)ttC>ttT	p.F912F	FBXO10_uc004aab.3_Silent_p.F896F|FBXO10_uc004aad.3_Silent_p.F446F	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	896						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTTTTTCTTGAAGACCAGGA	0.498000														10			45		0	0	0.003610	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756518	56756518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:56756518G>A	uc010rjp.2	+	0	130	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GGGTAATAGTGGAATAATCTT	0.368000														47			21		0	0	0.008871	0	0
LNP1	348801	broad.mit.edu	37	3	100174679	100174679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:100174679C>T	uc003dtx.4	+	3	1726	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	149										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GAGATAAAATCCCGAAAGAAA	0.438000														20			26		0	0	0.007291	0	0
CROCC	9696	broad.mit.edu	37	1	17257788	17257788	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:17257788C>T	uc001azt.2	+	7	921	c.852C>T	c.(850-852)tcC>tcT	p.S284S	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Silent_p.S47S	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	284					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCCTCCAGTCCTTCAACGCCT	0.617000														50			49		0	0	0.003610	0	0
ZNF180	7733	broad.mit.edu	37	19	44981504	44981504	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:44981504G>A	uc002ozf.4	-	4	1476	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	ZNF180_uc002ozh.4_Silent_p.S55S|ZNF180_uc002ozi.4_Silent_p.S371S|ZNF180_uc002ozg.4_Silent_p.S397S|ZNF180_uc010ejm.3_Silent_p.S373S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTCTCTGATGGGAAACAAGGT	0.443000														34			25		0	0	0.003330	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569368	11569368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:11569368C>T	uc002mry.1	-	3	772	c.392G>A	c.(391-393)gGg>gAg	p.G131E	ELAVL3_uc002mrx.1_Missense_Mutation_p.G131E	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	131	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTTGGGGAGCCCGCTGACGTA	0.607000														43			24		0	0	0.003954	0	0
SCN9A	6335	broad.mit.edu	37	2	167060517	167060517	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:167060517G>A	uc010fpl.3	-	25	5030	c.4689C>T	c.(4687-4689)ttC>ttT	p.F1563F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1574						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCCTACAGTGAAGTAGTAGT	0.299000														11			12		0	0	0.001855	0	0
NLRP2	55655	broad.mit.edu	37	19	55508802	55508802	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:55508802G>A	uc021vbq.1	+	11	3108	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V	NLRP2_uc010yfp.2_Silent_p.V976V|NLRP2_uc002qij.3_Silent_p.V999V|NLRP2_uc010esp.3_Silent_p.V977V|NLRP2_uc010esn.3_Silent_p.V975V|NLRP2_uc010eso.3_Silent_p.V996V	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	999					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGTGGAGTGAAGATGCTGT	0.537000														70			45		0	0	0.003610	0	0
HRH1	3269	broad.mit.edu	37	3	11300800	11300800	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:11300800A>G	uc010hdr.3	+	1	419	c.77A>G	c.(76-78)cAg>cGg	p.Q26R	HRH1_uc010hds.3_Missense_Mutation_p.Q26R|HRH1_uc010hdt.3_Missense_Mutation_p.Q26R|HRH1_uc003bwb.4_Missense_Mutation_p.Q26R|HRH1_uc021wtb.1_Missense_Mutation_p.Q26R	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	26					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GCCAGCCCCCAGCTGATGCCC	0.577000														26			20		0	0	0.001523	0	0
MUC16	94025	broad.mit.edu	37	19	9058517	9058517	+	Silent	SNP	T	C	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9058517T>C	uc002mkp.3	-	2	29133	c.28929A>G	c.(28927-28929)gaA>gaG	p.E9643E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9645	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGACAACTTCATCGGAGA	0.507000														18			14		0	0	0.002450	0	0
GGA3	23163	broad.mit.edu	37	17	73238436	73238437	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:73238436_73238437CC>TT	uc002jni.2	-	7	766_767	c.727_728GG>AA	c.(727-729)ggg>AAg	p.G243K	GGA3_uc002jnk.2_Missense_Mutation_p.G171K|GGA3_uc002jnj.2_Missense_Mutation_p.G210K|GGA3_uc010wry.2_Missense_Mutation_p.G171K|GGA3_uc010wrw.2_Missense_Mutation_p.G121K|GGA3_uc010wrx.2_Missense_Mutation_p.G121K|GGA3_uc010wrz.2_3'UTR	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	243	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CTCTCTGTCCCCGTCCGAAGAG	0.589000														92			123		0	0	0.004672	0	0
HTR3C	170572	broad.mit.edu	37	3	183773996	183773996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:183773996C>T	uc003fmk.3	+	3	345	c.311C>T	c.(310-312)cCa>cTa	p.P104L		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	104						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATTGGAACCCAAAAGAGTGT	0.507000														44			33		0	0	0.002096	0	0
RTN2	6253	broad.mit.edu	37	19	45996534	45996534	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:45996534A>C	uc002pcb.3	-	4	1147	c.917T>G	c.(916-918)gTc>gGc	p.V306G	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	306						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCCCCTTTGGACCCAGCCAAT	0.552000														38			35		0	0	0.005524	0	0
FGL2	10875	broad.mit.edu	37	7	76826009	76826009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:76826009C>T	uc003ugb.3	-	1	947	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	303	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTTCAAGATCTATTCTCAGA	0.368000														34			30		0	0	0.001786	0	0
NTPCR	84284	broad.mit.edu	37	1	233091435	233091435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:233091435C>T	uc001hvj.1	+	1	254	c.167C>T	c.(166-168)tCc>tTc	p.S56F	NTPCR_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	Homo sapiens nucleoside-triphosphatase, cancer-related (NTPCR), mRNA.	56							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GTCACGTTGTCCGGCACCCGG	0.463000														2			44		0	0	0.003610	0	0
HBD	3045	broad.mit.edu	37	11	5255394	5255394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:5255394C>T	uc001maf.1	-	1	337	c.142G>A	c.(142-144)Gat>Aat	p.D48N		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	48			D -> V (in Parkville; dbSNP:rs34977235).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGACAGATCCCCAAAGGAC	0.522000														34			26		0	0	0.007291	0	0
ORAI3	93129	broad.mit.edu	37	16	30964993	30964993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:30964993G>A	uc002eac.3	+	1	922	c.716G>A	c.(715-717)gGg>gAg	p.G239E		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 3 (ORAI3), mRNA.	239						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						GGGGCCCATGGGCCAGGCTGG	0.652000											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			44		0	0	0.003610	0	0
ACE	1636	broad.mit.edu	37	17	61571427	61571427	+	Splice_Site	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:61571427G>A	uc002jau.2	+	21	3315	c.3281_splice	c.e21+1	p.R1094_splice	ACE_uc010wpj.2_Splice_Site_p.R520_splice|ACE_uc010ddv.2_Splice_Site_p.R321_splice|ACE_uc002jav.2_Splice_Site_p.R520_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R340_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1094	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGGAGCCTCAGGTTCTGGAAC	0.582000														24			12		0	0	0.000978	0	0
MARCH10	162333	broad.mit.edu	37	17	60814267	60814267	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:60814267C>A	uc010dds.3	-	6	1361	c.1076G>T	c.(1075-1077)gGg>gTg	p.G359V	MARCH10_uc010ddr.3_Missense_Mutation_p.G321V|MARCH10_uc002jag.4_Missense_Mutation_p.G321V|MARCH10_uc002jah.2_Missense_Mutation_p.G320V|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	321							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGTCGATGTCCCCCCAAATCT	0.458000														91			157		1.92421e-57	2.86445e-57	0.003610	1	0
SCD	6319	broad.mit.edu	37	10	102116451	102116451	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:102116451C>T	uc001kqy.3	+	4	1300	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	270					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CTGCCCACCTCTTCGGATATC	0.488000														1			19		0	0	0.001523	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502373	220502373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:220502373G>A	uc002vmo.4	+	16	2896	c.2687G>A	c.(2686-2688)gGt>gAt	p.G896D	SLC4A3_uc002vmp.4_Missense_Mutation_p.G869D|SLC4A3_uc010fwm.3_Missense_Mutation_p.G419D|SLC4A3_uc010fwn.1_Missense_Mutation_p.G378D	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	869	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGATGCTGGTCTGGAGCCA	0.642000														19			14		0	0	0.003163	0	0
APLP2	334	broad.mit.edu	37	11	130013310	130013310	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:130013310C>T	uc010sby.2	+	17	2416	c.2259C>T	c.(2257-2259)ccC>ccT	p.P753P	APLP2_uc001qfp.3_Silent_p.P741P|APLP2_uc001qfq.3_Silent_p.P685P|APLP2_uc010sbz.2_Silent_p.P541P|APLP2_uc001qfr.3_Silent_p.P507P|APLP2_uc001qfs.3_Silent_p.P512P|APLP2_uc021qsg.1_Silent_p.P751P|APLP2_uc001qfv.3_Silent_p.P644P|APLP2_uc009zcv.3_Silent_p.P101P	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	753					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATGAGAACCCCACCTACAAAT	0.557000														42			25		0	0	0.003954	0	0
RHBDF1	64285	broad.mit.edu	37	16	111688	111688	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:111688G>A	uc002cfl.4	-	8	1358	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	RHBDF1_uc010uty.2_Silent_p.F428F|RHBDF1_uc010utz.2_Silent_p.F405F|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	405					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGTAGGTGAAGAAGGGCCTGC	0.677000														15			11		0	0	0.000978	0	0
EDAR	10913	broad.mit.edu	37	2	109527452	109527452	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:109527452G>A	uc010fjn.3	-	7	1153	c.606C>T	c.(604-606)atC>atT	p.I202I	EDAR_uc010yws.2_Silent_p.I202I|EDAR_uc002teq.4_Silent_p.I202I	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	202					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						tgatgaggacgatggcgatgg	0.572000														15			20		0	0	0.008871	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:57828183G>A	uc002yan.3	+	3	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1393						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGGACAAACGAACTGTGAAG	0.468000														63			46		0	0	0.003610	0	0
SORCS2	57537	broad.mit.edu	37	4	7726903	7726903	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:7726903G>A	uc003gkb.4	+	19	2634	c.2634G>A	c.(2632-2634)ctG>ctA	p.L878L	SORCS2_uc011bwi.2_Silent_p.L706L	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	878						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCTCTACCTGGAGGTGGTTC	0.572000														40			21		0	0	0.003330	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:31940123G>A	uc003nyv.3	+	1	393	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(6)|p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000														87			26		0	0	0.007291	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95488775	95488775	+	RNA	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:95488775C>T	uc010fhp.3	-	9		c.943G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TCACTTCTTTCATGCCTTTCT	0.343000														52			32		0	0	0.006999	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530629	140530629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:140530629C>T	uc003lir.3	+	0	791	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	264	Cadherin 3.				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)			ATTACCGTCTCAGCCAGAGAT	0.488000														2			16		0	0	0.004007	0	0
SCN7A	6332	broad.mit.edu	37	2	167322436	167322436	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:167322436G>A	uc002udu.2	-	6	856	c.726C>T	c.(724-726)atC>atT	p.I242I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	242					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAGAGTTAGGATAATGACAC	0.388000														14			13		0	0	0.001368	0	0
RBM5	10181	broad.mit.edu	37	3	50137972	50137972	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:50137972C>T	uc003cyg.3	+	5	592	c.417C>T	c.(415-417)agC>agT	p.S139S	RBM5_uc003cyf.3_3'UTR|RBM5_uc011bdj.2_Silent_p.S83S|RBM5_uc011bdk.2_Intron|LUST_uc021wym.1_Non-coding_Transcript	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	139	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGGTGTAAGCCGTGGTTTCG	0.453000														22			19		0	0	0.001882	0	0
UBC	7316	broad.mit.edu	37	17	21730972	21730972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:21730972G>A	uc002gyy.3	+	1	399	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	244	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CATCACCCTGGAAGTGGAGCC	0.547000														17			19		0	0	0.003954	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223197	140223197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:140223197C>T	uc003lhs.2	+	0	2291	c.2291C>T	c.(2290-2292)cCa>cTa	p.P764L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P764L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	801					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)			GGTGAGGGGCCACCGAAGACG	0.602000														3			13		0	0	0.001855	0	0
DNAH3	55567	broad.mit.edu	37	16	20976176	20976176	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:20976176G>A	uc010vbe.2	-	52	9030	c.9030C>T	c.(9028-9030)ggC>ggT	p.G3010G	DNAH3_uc010vbd.2_Silent_p.G445G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3010					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGTAAAAGCGCCCAGGTAAG	0.527000														25			21		0	0	0.008871	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17139151	17139151	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:17139151G>A	uc001mmq.4	-	17	3168	c.3103C>T	c.(3103-3105)Ctg>Ttg	p.L1035L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.L655L|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1035					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CCTACTGACAGGAGAGCACCC	0.418000														31			22		0	0	0.001882	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200826532	200826532	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:200826532C>T	uc001gvl.3	+	16	4414	c.4144C>T	c.(4144-4146)Cag>Tag	p.Q1382*	CAMSAP2_uc001gvk.3_Nonsense_Mutation_p.Q1371*|CAMSAP2_uc001gvm.3_Nonsense_Mutation_p.Q1355*	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1382	CKK.					cytoplasm|microtubule	protein binding										AAATGAAGGTCAGAAGAAAAA	0.363000														25			13		0	0	0.001368	0	0
OR4X1	390113	broad.mit.edu	37	11	48285553	48285553	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:48285553C>T	uc010rht.2	+	0	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGGTGACCATCCTGGCCAGCA	0.488000														17			20		0	0	0.001882	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217340128	217340128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:217340128C>T	uc002vgc.4	+	14	2711	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	SMARCAL1_uc002vgd.4_Missense_Mutation_p.S794F|SMARCAL1_uc010fvg.3_Missense_Mutation_p.S772F	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	794	Helicase C-terminal.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTCACCTTCTCCTCGGCTGAC	0.592000									Schimke Immuno-Osseous Dysplasia					41			37		0	0	0.002222	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654143	46654143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:46654143C>T	uc003bhh.3	-	0	5077	c.5077G>A	c.(5077-5079)Gaa>Aaa	p.E1693K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1693					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTCTGATTTCATCTTCTGTA	0.423000														29			24		0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9058519	9058519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9058519C>T	uc002mkp.3	-	2	29131	c.28927G>A	c.(28927-28929)Gaa>Aaa	p.E9643K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9645	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGACAACTTCATCGGAGATG	0.502000														19			13		0	0	0.001855	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715223	92715223	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:92715223C>T	uc001pdk.1	+	1	937	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	278					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P278H(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCATCAACCCCCAAGAAATGG	0.512000														222			160		0	0	0.003610	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556191	45556191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:45556191C>T	uc010dnv.3	-	3	1802	c.1366G>A	c.(1366-1368)Gac>Aac	p.D456N	ZBTB7C_uc002ldb.3_Missense_Mutation_p.D434N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D443N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D434N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	434						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCTTGAGGTCGTAGTTGTGC	0.592000														25			17		0	0	0.008871	0	0
HERC5	51191	broad.mit.edu	37	4	89390338	89390338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:89390338C>T	uc003hrt.3	+	8	1318	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	HERC5_uc011cdm.2_Missense_Mutation_p.P27S	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	389					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAGGACAATTCCTACTCTGAA	0.398000														20			9		0	0	0.008291	0	0
DPRX	503834	broad.mit.edu	37	19	54137921	54137921	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:54137921A>G	uc002qcf.1	+	1	216	c.165A>G	c.(163-165)atA>atG	p.I55M		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	55						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAATAGACATACACCCAACAG	0.428000														26			29		0	0	0.002445	0	0
OR2G6	391211	broad.mit.edu	37	1	248685544	248685544	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:248685544C>T	uc001ien.1	+	0	597	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473000														8			52		0	0	0.003610	0	0
TKTL2	84076	broad.mit.edu	37	4	164393087	164393087	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:164393087C>T	uc003iqp.4	-	0	1961	c.1800G>A	c.(1798-1800)ggG>ggA	p.G600G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	600						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACTAGTTTTCCCACGTTGAG	0.438000														40			21		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9089865	9089865	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9089865G>A	uc002mkp.3	-	0	2154	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	650	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGAGACACGGAGACTGGGA	0.552000														59			42		0	0	0.003214	0	0
YEATS2	55689	broad.mit.edu	37	3	183516739	183516739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:183516739C>T	uc003fly.2	+	22	3482	c.3287C>T	c.(3286-3288)cCa>cTa	p.P1096L		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1096					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCCAACTCCAGTTGTCCCC	0.463000														73			53		0	0	0.003610	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958492	50958492	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:50958492C>T	uc002psf.2	+	18	2193	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	714	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCGTGTCTTCGCCGTCAATG	0.493000														45			41		0	0	0.002522	0	0
PCDH15	65217	broad.mit.edu	37	10	55721526	55721526	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:55721526T>A	uc010qhy.1	-	22	3405	c.3010A>T	c.(3010-3012)Aca>Tca	p.T1004S	PCDH15_uc010qhq.2_Missense_Mutation_p.T1004S|PCDH15_uc010qhr.2_Missense_Mutation_p.T999S|PCDH15_uc021pqv.1_Missense_Mutation_p.T999S|PCDH15_uc021pqw.1_Missense_Mutation_p.T1011S|PCDH15_uc010qht.2_Missense_Mutation_p.T1006S|PCDH15_uc021pqx.1_Missense_Mutation_p.T999S|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.T999S|PCDH15_uc021pqz.1_Missense_Mutation_p.T977S|PCDH15_uc010qhv.1_Missense_Mutation_p.T999S|PCDH15_uc010qhw.1_Missense_Mutation_p.T962S|PCDH15_uc010qhx.1_Missense_Mutation_p.T928S|PCDH15_uc010qhz.1_Missense_Mutation_p.T999S|PCDH15_uc010qia.1_Missense_Mutation_p.T977S|PCDH15_uc001jju.1_Missense_Mutation_p.T999S|PCDH15_uc010qib.1_Missense_Mutation_p.T977S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	999	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.L1004L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAATTGTTGTAGGTTCTTCA	0.328000										HNSCC(58;0.16)				3			23		0	0	0.002780	0	0
SPACA7	122258	broad.mit.edu	37	13	113030784	113030784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:113030784G>A	uc001vsd.2	+	0	134	c.85G>A	c.(85-87)Gtg>Atg	p.V29M		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	29						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GCCGAGAACCGTGATTCCAGG	0.592000														9			9		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	8995651	8995651	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:8995651C>T	uc002mkp.3	-	62	41541	c.41337G>A	c.(41335-41337)tcG>tcA	p.S13779S	MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Silent_p.S596S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13781				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCAAATATCGAGGCTGGAG	0.463000														11			12		0	0	0.001855	0	0
CHRNA10	57053	broad.mit.edu	37	11	3690440	3690440	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:3690440G>A	uc001lyf.3	-	2	420	c.348C>T	c.(346-348)atC>atT	p.I116I	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	116					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TATAGAGTACGATGTCTGGCC	0.577000														24			15		0	0	0.004007	0	0
CLASP2	23122	broad.mit.edu	37	3	33558658	33558658	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:33558658G>A	uc021wvc.1	-	34	4031	c.3820C>T	c.(3820-3822)Cta>Tta	p.L1274L	CLASP2_uc003cfs.3_Silent_p.L473L|CLASP2_uc021wva.1_Silent_p.L348L|CLASP2_uc021wvb.1_Silent_p.L1053L|CLASP2_uc011axt.1_Silent_p.L866L	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1275										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GAATGATCTAGGGAAAGATCT	0.363000														24			20		0	0	0.008871	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692586	23692586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:23692586G>A	uc003zpu.3	-	6	1324	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	ELAVL2_uc003zps.3_Missense_Mutation_p.S337F|ELAVL2_uc003zpt.3_Missense_Mutation_p.S337F|ELAVL2_uc003zpv.3_Missense_Mutation_p.S350F|ELAVL2_uc003zpw.3_Missense_Mutation_p.S337F	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	350	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGTCTTAAAGGAGACCTGCAG	0.403000														0			11		0	0	0.001855	0	0
RIT1	6016	broad.mit.edu	37	1	155874290	155874290	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:155874290C>G	uc001fmh.1	-	4	428	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	RIT1_uc010pgr.1_Missense_Mutation_p.E45Q	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	81					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCTGTAAACTCTGCCTAGAGG	0.428000														29			14		0	0	0.002450	0	0
AIFM2	84883	broad.mit.edu	37	10	71883676	71883676	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:71883676G>A	uc010qjg.2	-	0	181	c.165C>T	c.(163-165)gcC>gcT	p.A55A	AIFM2_uc021psi.1_Silent_p.A55A|AIFM2_uc001jqp.2_Silent_p.A55A	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	55					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	p.R54L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TCTCCACGGAGGCTCGGAGAG	0.607000														3			12		0	0	0.002450	0	0
SFTA3	253970	broad.mit.edu	37	14	36946189	36946189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:36946189G>A	uc001wtr.3	-	2	880	c.248C>T	c.(247-249)tCa>tTa	p.S83L	SFTA3_uc001wtq.3_Non-coding_Transcript|SFTA3_uc001wts.3_Non-coding_Transcript	NM_001101341	NP_001094811	P0C7M3	SFTA3_HUMAN	Homo sapiens surfactant associated 3 (SFTA3), mRNA.	83										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						GGCCTCGGATGAACTCCTGCT	0.517000														68			51		0	0	0.003610	0	0
TCRA	0	broad.mit.edu	37	14	22636339	22636339	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:22636339G>A	uc001wdi.2	+	0	47	c.15G>A	c.(13-15)ctG>ctA	p.L5L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222.																		AGACTCTCCTGAAAGTGCTTT	0.468000														100			82		0	0	0.003610	0	0
PLIN2	123	broad.mit.edu	37	9	19126422	19126422	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:19126422C>A	uc003zno.3	-	1	213	c.3G>T	c.(1-3)atG>atT	p.M1I	PLIN2_uc011lna.2_5'UTR|PLIN2_uc011lnb.2_Missense_Mutation_p.M1I	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	1					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CAACGGATGCCATTTTTCTTC	0.418000														4			14		1.49906e-05	2.17391e-05	0.002450	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481402	140481402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:140481402C>T	uc003lio.3	+	0	1169	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAATCTCCCCTTCTTCCTG	0.468000														6			15		0	0	0.004990	0	0
CEP350	9857	broad.mit.edu	37	1	180006154	180006154	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:180006154C>G	uc001gnt.3	+	16	4423	c.4040C>G	c.(4039-4041)tCa>tGa	p.S1347*	CEP350_uc009wxl.2_Nonsense_Mutation_p.S1346*|CEP350_uc001gnu.3_Nonsense_Mutation_p.S1180*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1347						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CGCCAACTGTCAGATGTAGAA	0.463000														19			4		0	0	0.001168	0	0
OR52J3	119679	broad.mit.edu	37	11	5068657	5068657	+	Missense_Mutation	SNP	G	A	A	rs146387387		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:5068657G>A	uc010qyv.2	+	0	902	c.902G>A	c.(901-903)cGa>cAa	p.R301Q		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACAGATTCGAGAACGAGTG	0.378000														27			16		0	0	0.004990	0	0
RIT1	6016	broad.mit.edu	37	1	155870322	155870322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:155870322C>T	uc001fmh.1	-	5	704	c.517G>A	c.(517-519)Gat>Aat	p.D173N	RIT1_uc010pgr.1_Missense_Mutation_p.D137N	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	173					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TGGAAAACATCATCAATATAG	0.453000														156			59		0	0	0.003610	0	0
ORC4	5000	broad.mit.edu	37	2	148695749	148695749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:148695749G>A	uc002twj.3	-	12	1258	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	ORC4_uc021vqr.1_Missense_Mutation_p.S363F|ORC4_uc002twi.3_Missense_Mutation_p.S363F|ORC4_uc010zbo.2_Missense_Mutation_p.S289F|ORC4_uc010zbq.2_Missense_Mutation_p.S279F|ORC4_uc010zbp.2_Missense_Mutation_p.S146F|ORC4_uc002twk.3_Missense_Mutation_p.S363F|ORC4_uc002twl.1_5'Flank	NM_002552	NP_001177810	O43929	ORC4_HUMAN	Homo sapiens origin recognition complex, subunit 4 (ORC4), transcript variant 2, mRNA.	363					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						ATTATAAACGGAATGTGCTTT	0.318000														14			10		0	0	0.006214	0	0
DHRS3	9249	broad.mit.edu	37	1	12639360	12639360	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:12639360G>A	uc001auc.3	-	2	887	c.420C>T	c.(418-420)ctC>ctT	p.L140L	DHRS3_uc001aub.3_Silent_p.L55L|DHRS3_uc009vnm.3_Silent_p.L140L	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	140					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GGGACTTGAGGAGGGCATCAT	0.622000														4			40		0	0	0.002852	0	0
MUC16	94025	broad.mit.edu	37	19	9088734	9088734	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9088734C>T	uc002mkp.3	-	0	3285	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1027	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGCCATTCGTGGTCTCTG	0.468000														80			55		0	0	0.003610	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269600	185269600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:185269600G>A	uc001grl.3	-	10	1834	c.1211C>T	c.(1210-1212)cCa>cTa	p.P404L	IVNS1ABP_uc001gri.3_Missense_Mutation_p.P64L|IVNS1ABP_uc001grj.3_Missense_Mutation_p.P64L|IVNS1ABP_uc009wyj.3_Missense_Mutation_p.P186L|IVNS1ABP_uc009wyk.3_Non-coding_Transcript|IVNS1ABP_uc001grm.3_Missense_Mutation_p.P64L	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	404					RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TCGGGCTCTTGGTGTTCTCAT	0.428000														10			92		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100683508	100683508	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:100683508C>T	uc003uxp.1	+	2	8864	c.8811C>T	c.(8809-8811)acC>acT	p.T2937T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2937	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTGTCAGCACCGTGCCAGTGG	0.488000														15			90		0	0	0.003610	0	0
C6orf57	135154	broad.mit.edu	37	6	71289239	71289239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:71289239G>A	uc003pfq.1	+	1	206	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_145267	NP_660310	Q5VUM1	CF057_HUMAN	Homo sapiens chromosome 6 open reading frame 57 (C6orf57), mRNA.	63						extracellular region				kidney(1)|lung(1)|skin(1)	3						TGCACCAGAGGATTCCCATTT	0.383000														30			37		0	0	0.002222	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765902	18765902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:18765902G>A	uc010exr.3	-	3	719	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.R261C|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.R201C|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.R261C|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.R244C|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.R278C|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.R263C|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.R201C|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.R53C	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	261					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										AGAGAGTTGCGGTCCAGCTGG	0.652000														8			12		0	0	0.001368	0	0
POLD3	10714	broad.mit.edu	37	11	74340341	74340342	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:74340341_74340342CC>GT	uc001ovf.1	+	8	1054_1055	c.979_980CC>GT	c.(979-981)cct>GTt	p.P327V	POLD3_uc009yua.1_Missense_Mutation_p.P221V	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	327					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AATCAAACTTCCTGAATCTGAT	0.386000														31			18		0	0	0.004672	0	0
GSDMB	55876	broad.mit.edu	37	17	38068632	38068632	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:38068632G>A	uc010cwj.3	-	2	485	c.354C>T	c.(352-354)atC>atT	p.I118I	GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.I118I|GSDMB_uc002hth.3_Silent_p.I118I|GSDMB_uc010wem.2_Silent_p.I118I	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	118						cytoplasm		p.K117Q(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CCGATATCTTGATTTTCTGAT	0.463000														33			34		0	0	0.004878	0	0
C19orf21	126353	broad.mit.edu	37	19	757292	757292	+	Missense_Mutation	SNP	G	A	A	rs45591331		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:757292G>A	uc002lpo.3	+	1	429	c.346G>A	c.(346-348)Ggg>Agg	p.G116R		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	116										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		CCCAGAGGACGGGGAGGACAA	0.667000														24			20		0	0	0.008871	0	0
DSG1	1828	broad.mit.edu	37	18	28923439	28923439	+	Missense_Mutation	SNP	G	A	A	rs137983671	byFrequency	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:28923439G>A	uc002kwp.3	+	11	1926	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	572					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GATCTGTTGTGATTGTGGAGG	0.448000														50			54		0	0	0.003610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137769	40137769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:40137769G>A	uc021qgf.1	-	0	74	c.74C>T	c.(73-75)cCc>cTc	p.P25L	LRRC4C_uc001mxc.1_Missense_Mutation_p.P21L|LRRC4C_uc001mxd.1_Missense_Mutation_p.P21L|LRRC4C_uc001mxa.1_Missense_Mutation_p.P25L|LRRC4C_uc001mxb.1_Missense_Mutation_p.P21L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	25					regulation of axonogenesis	integral to membrane	protein binding	p.D24E(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACAAGCAGGGGGTCAAATAG	0.507000														12			10		0	0	0.008291	0	0
IRGQ	126298	broad.mit.edu	37	19	44099230	44099230	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:44099230C>T	uc002oww.2	-	0	379	c.261G>A	c.(259-261)ggG>ggA	p.G87G	IRGQ_uc010eiv.2_Silent_p.G87G|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	87							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GTTCCCCGTTCCCCTCGGGTC	0.721000														12			10		0	0	0.008291	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728090	20728090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:20728090G>A	uc002npa.3	-	3	1099	c.919C>T	c.(919-921)Cat>Tat	p.H307Y		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	307					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCGCTATGAATTATCTTA	0.408000														8			6		0	0	0.001984	0	0
TSPEAR	54084	broad.mit.edu	37	21	45953807	45953807	+	Splice_Site	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:45953807C>T	uc002zfe.1	-	3	370	c.304_splice	c.e3-1	p.R102_splice	TSPEAR_uc010gpv.1_Splice_Site_p.R34_splice	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	102	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						ACTCGTTCCTCTGTGGAGAGC	0.667000														7			16		0	0	0.004007	0	0
NRK	203447	broad.mit.edu	37	X	105193601	105193601	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:105193601T>A	uc004emd.3	+	26	4688	c.4385T>A	c.(4384-4386)aTt>aAt	p.I1462N	NRK_uc011msi.2_Missense_Mutation_p.I44N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1463	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATATCATCATTTTACCTGAT	0.368000										HNSCC(51;0.14)				6			32		0	0	0.005524	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865097	47865097	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:47865097C>T	uc002xui.3	-	13	4711	c.4464G>A	c.(4462-4464)cgG>cgA	p.R1488R		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1488							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGACAGGTCCGCTGGCAGG	0.597000														21			18		0	0	0.007413	0	0
COL4A6	1288	broad.mit.edu	37	X	107430341	107430342	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:107430341_107430342GG>AA	uc004enw.4	-	22	2041_2042	c.1938_1939CC>TT	c.(1936-1941)ggcctt>ggTTtt	p.L647F	COL4A6_uc004env.4_Missense_Mutation_p.L646F|COL4A6_uc011msn.2_Missense_Mutation_p.L646F|COL4A6_uc010npk.3_Missense_Mutation_p.L646F	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	647	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GATCCGGGAAGGCCTTGTTGTC	0.510000									Alport syndrome with Diffuse Leiomyomatosis					32			147		0	0	0.004672	0	0
CTCFL	140690	broad.mit.edu	37	20	56064195	56064195	+	RNA	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:56064195G>A	uc010giu.3	-	3		c.488C>T			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTAacagtacgatttataata	0.468000														4			7		0	0	0.001984	0	0
NDST4	64579	broad.mit.edu	37	4	115997465	115997465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:115997465G>A	uc003ibu.3	-	1	1407	c.728C>T	c.(727-729)tCc>tTc	p.S243F	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	243	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGATGACAGGGATTTTTCTGT	0.423000														31			27		0	0	0.008361	0	0
ZNF229	7772	broad.mit.edu	37	19	44934705	44934705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:44934705C>T	uc002oze.1	-	5	685	c.251G>A	c.(250-252)gGa>gAa	p.G84E	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.G78E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGTATCCTTTCCATTCTTGTC	0.398000														13			17		0	0	0.006122	0	0
RSPH1	89765	broad.mit.edu	37	21	43913099	43913099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:43913099C>T	uc002zbg.3	-	1	250	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	49					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TTACCGAATTCGTAGCTCCCT	0.502000														82			59		0	0	0.003610	0	0
MTA2	9219	broad.mit.edu	37	11	62368097	62368097	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:62368097G>A	uc001ntq.2	-	1	483	c.93C>T	c.(91-93)aaC>aaT	p.N31N	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	31	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CACTCACCTTGTTGAGCTCCT	0.498000														13			13		0	0	0.001855	0	0
FAT4	79633	broad.mit.edu	37	4	126373627	126373627	+	Missense_Mutation	SNP	G	A	A	rs142857910		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:126373627G>A	uc003ifj.4	+	8	11456	c.11456G>A	c.(11455-11457)cGa>cAa	p.R3819Q	FAT4_uc011cgp.2_Missense_Mutation_p.R2117Q|FAT4_uc003ifi.1_Missense_Mutation_p.R1297Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3819	EGF-like 1.				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						AGCTGTCTACGAAGATTGGCT	0.493000														18			22		0	0	0.001882	0	0
MS4A1	931	broad.mit.edu	37	11	60230528	60230528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:60230528G>A	uc009yna.3	+	2	540	c.213G>A	c.(211-213)atG>atA	p.M71I	MS4A1_uc009ymy.1_Missense_Mutation_p.M71I|MS4A1_uc009ymz.3_Missense_Mutation_p.M71I|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.M71I|MS4A1_uc001npq.3_Missense_Mutation_p.M71I	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	71				M -> I (in Ref. 4; AAA88911).	B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GTCTTCTGATGATCCCAGCAG	0.517000														47			47		0	0	0.003610	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027323	55027323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:55027323G>A	uc002lgn.3	+	3	1315	c.958G>A	c.(958-960)Gga>Aga	p.G320R		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	320					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCACTTGTATGGATTTTGGCC	0.423000														13			18		0	0	0.007413	0	0
TCF20	6942	broad.mit.edu	37	22	42606385	42606385	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:42606385G>T	uc003bcj.1	-	0	5061	c.4927C>A	c.(4927-4929)Ctt>Att	p.L1643I	TCF20_uc003bck.1_Missense_Mutation_p.L1643I	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACGGCTCCAAGTTCACACTTA	0.448000														79			42		1.0096e-33	1.49163e-33	0.003610	1	0
ABCA2	20	broad.mit.edu	37	9	139912064	139912064	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:139912064G>A	uc004ckm.1	-	16	2429	c.2379C>T	c.(2377-2379)tcC>tcT	p.S793S	ABCA2_uc022bpy.1_Silent_p.S694S|ABCA2_uc022bpz.1_Silent_p.S764S|ABCA2_uc011mem.1_Silent_p.S763S|ABCA2_uc004ckl.1_Silent_p.S694S|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	763					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCTGTCACGGAGATGGACA	0.617000														0			33		0	0	0.004289	0	0
LMBRD1	55788	broad.mit.edu	37	6	70451759	70451759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:70451759G>A	uc003pfa.3	-	5	760	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LMBRD1_uc003pez.3_Missense_Mutation_p.P89S|LMBRD1_uc010kal.3_Missense_Mutation_p.P89S|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	162					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACATTCAATGGAACAAAGGCA	0.269000														23			23		0	0	0.003954	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688731	26688731	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:26688731C>T	uc003acb.3	+	1	650	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	SEZ6L_uc003acd.3_Nonsense_Mutation_p.Q152*|SEZ6L_uc011akd.2_Nonsense_Mutation_p.Q152*|SEZ6L_uc003ace.3_Nonsense_Mutation_p.Q152*|SEZ6L_uc011akc.2_Nonsense_Mutation_p.Q152*|SEZ6L_uc003acc.3_Nonsense_Mutation_p.Q152*|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	152						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCAGCGTCCCAGGGCCTAGA	0.662000														13			13		0	0	0.001855	0	0
MST1P2	11209	broad.mit.edu	37	1	16976345	16976345	+	RNA	SNP	T	C	C	rs139809665	by1000genomes	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:16976345T>C	uc010och.2	+	12		c.2190T>C			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTTGCTGAATGTCATCTCCA	0.582000														5			3		0	0	0.000248	0	0
SRRM4	84530	broad.mit.edu	37	12	119540077	119540077	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:119540077G>A	uc001txa.2	+	1	556	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	56					RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCCAGCTCAGGATGGACCCT	0.502000														18			10		0	0	0.008291	0	0
C22orf28	51493	broad.mit.edu	37	22	32797884	32797884	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:32797884A>G	uc003amm.2	-	4	478	c.347T>C	c.(346-348)gTc>gCc	p.V116A	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	116					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						GTCAAACCCGACACCACCTAC	0.433000														15			16		0	0	0.004007	0	0
ADAM28	10863	broad.mit.edu	37	8	24171079	24171079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:24171079G>A	uc003xdy.3	+	5	645	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ADAM28_uc003xdx.3_Missense_Mutation_p.A188T|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	188					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCCCTACCTGCCACCAAACT	0.413000														34			38		0	0	0.002222	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633675	46633675	+	Splice_Site	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:46633675C>T	uc009zkj.1	-	3	593	c.-92_splice	c.e3-1		SLC38A1_uc001rpb.3_Splice_Site|SLC38A1_uc001rpc.3_Splice_Site|SLC38A1_uc001rpd.3_Splice_Site|SLC38A1_uc001rpe.3_Splice_Site|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Splice_Site	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.						cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGCTTGACACCCCTAAAATAT	0.274000														5			4		0	0	0.000248	0	0
CAND2	23066	broad.mit.edu	37	3	12859143	12859143	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:12859143C>T	uc003bxk.2	+	9	2761	c.2712C>T	c.(2710-2712)atC>atT	p.I904I	CAND2_uc003bxj.2_Silent_p.I811I	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	904					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGCAGATCGAGGCTGAGC	0.667000														38			36		0	0	0.004878	0	0
PLCH1	23007	broad.mit.edu	37	3	155215191	155215191	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:155215191C>T	uc021xge.1	-	13	2053	c.1776G>A	c.(1774-1776)agG>agA	p.R592R	PLCH1_uc021xgd.1_Silent_p.R592R|PLCH1_uc021xgf.1_Silent_p.R574R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	592					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATGGTTTTCCTTCGGCGAC	0.463000														33			22		0	0	0.003954	0	0
ODZ4	26011	broad.mit.edu	37	11	78440596	78440596	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:78440596G>A	uc001ozl.4	-	21	3694	c.3231C>T	c.(3229-3231)atC>atT	p.I1077I		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1077					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGGTGAGGCTGATCCTCAGGA	0.582000														15			9		0	0	0.006214	0	0
SEMA3A	10371	broad.mit.edu	37	7	83675699	83675699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:83675699C>T	uc003uhz.3	-	5	923	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	203	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCCAAGAGTTCGGAAGATAGC	0.428000														39			44		0	0	0.002522	0	0
NYAP2	57624	broad.mit.edu	37	2	226447476	226447476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:226447476C>T	uc002voe.2	+	3	1518	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P218L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	448	Pro-rich.																TCCCTGACTCCCCTGAGCCTC	0.632000														16			10		0	0	0.006214	0	0
IQUB	154865	broad.mit.edu	37	7	123152121	123152121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:123152121G>A	uc003vkn.3	-	1	851	c.274C>T	c.(274-276)Ccg>Tcg	p.P92S	IQUB_uc003vko.3_Missense_Mutation_p.P92S|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.P92S|IQUB_uc003vkq.2_Missense_Mutation_p.P92S	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	92										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGATGTTGCGGAGTATATGAA	0.388000														51			42		0	0	0.003214	0	0
CXorf59	286464	broad.mit.edu	37	X	36162701	36162701	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:36162701G>A	uc004ddk.1	+	10	1470	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	428						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						tgtttccaaaggagatggatg	0.468000														9			37		0	0	0.002222	0	0
AQR	9716	broad.mit.edu	37	15	35192830	35192830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr15:35192830G>A	uc001ziv.3	-	19	2417	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	746						catalytic step 2 spliceosome	RNA binding	p.P746L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACCTGAAAGGGGGTATTTGT	0.408000														29			19		0	0	0.002299	0	0
GABRA3	2556	broad.mit.edu	37	X	151376545	151376545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:151376545C>T	uc010ntk.1	-	6	946	c.706G>A	c.(706-708)Gat>Aat	p.D236N		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	236					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGAGAACCATCCTGTGCCACT	0.413000														5			43		0	0	0.003214	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873499	37873499	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:37873499A>G	uc021vfz.1	-	0	232	c.232T>C	c.(232-234)Ttc>Ctc	p.F78L	CDC42EP3_uc002rqi.1_Missense_Mutation_p.F78L	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	78					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TGCCCAGGGAACTGGCCCAGG	0.537000														49			52		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55541651	55541651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:55541651G>A	uc003xsd.1	+	3	5357	c.5209G>A	c.(5209-5211)Gaa>Aaa	p.E1737K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1737					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)			AGACATAGAGGAAGGAGTACT	0.418000														12			8		0	0	0.003080	0	0
SLC16A5	9121	broad.mit.edu	37	17	73102104	73102104	+	Silent	SNP	T	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:73102104T>A	uc002jmr.3	+	6	1866	c.1494T>A	c.(1492-1494)gcT>gcA	p.A498A	SLC16A5_uc002jmt.3_Silent_p.A498A|SLC16A5_uc002jmu.3_Silent_p.A498A	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	498					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCaaacggctctgggctgga	0.547000											OREG0024726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			5		0	0	0.000602	0	0
THSD1	55901	broad.mit.edu	37	13	52972044	52972045	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:52972044_52972045GG>AA	uc001vgo.3	-	2	888_889	c.343_344CC>TT	c.(343-345)ccc>TTc	p.P115F	THSD1_uc001vgp.3_Missense_Mutation_p.P115F|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	115						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCCCACCAGGGGAATGGAGTG	0.505000														67			32		0	0	0.004672	0	0
RAD18	56852	broad.mit.edu	37	3	8977684	8977684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:8977684G>A	uc003brd.3	-	6	850	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	254	SAP.				DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTTAAATCACGATCAGAGAGC	0.353000								Rad6 pathway						22			26		0	0	0.005443	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301163	29301163	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:29301163A>C	uc004dby.2	+	2	699	c.191A>C	c.(190-192)tAc>tCc	p.Y64S		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	64	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAACAAATTACTCCCTTGCC	0.423000														2			14		0	0	0.002450	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317935	30317935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:30317935C>T	uc009xle.2	-	2	1279	c.1142G>A	c.(1141-1143)gGg>gAg	p.G381E	KIAA1462_uc001iux.3_Missense_Mutation_p.G381E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G243E	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	381	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCGCTGGCCCCAGCCTTCTC	0.632000														6			45		0	0	0.003610	0	0
MYH6	4624	broad.mit.edu	37	14	23855163	23855163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:23855163C>T	uc001wjv.3	-	33	5208	c.5137G>A	c.(5137-5139)Gag>Aag	p.E1713K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1713					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCACCCGCTCGCTGGTCTCA	0.612000														22			19		0	0	0.001523	0	0
AFM	173	broad.mit.edu	37	4	74350006	74350006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:74350006G>A	uc003hhb.3	+	2	200	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	57	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTATGTTCAGGAAGCAACCTT	0.408000														28			22		0	0	0.002780	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348017	38348017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:38348017G>A	uc003cib.2	+	0	573	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	SLC22A14_uc010hhc.1_Missense_Mutation_p.R167Q|SLC22A14_uc003cia.2_Missense_Mutation_p.R167Q|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	167						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCTAAGAAGCGATCGCTGATC	0.502000														37			33		0	0	0.004289	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669709	122669709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:122669709C>T	uc001pyi.4	+	9	1777	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	473	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity	p.R473C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCGTCCCTTCGCTGCGTTCA	0.428000														27			18		0	0	0.008871	0	0
XIRP2	129446	broad.mit.edu	37	2	168108159	168108159	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:168108159C>T	uc002udx.3	+	8	10346	c.10257C>T	c.(10255-10257)ttC>ttT	p.F3419F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F3244F|XIRP2_uc010fpq.3_Silent_p.F3197F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3244					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGAACATTTCTCAGGCATGG	0.433000														34			23		0	0	0.002299	0	0
APAF1	317	broad.mit.edu	37	12	99053033	99053033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:99053033C>T	uc001tfz.3	+	4	1199	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	APAF1_uc001tfy.3_Nonsense_Mutation_p.Q197*|APAF1_uc001tga.3_Nonsense_Mutation_p.Q197*|APAF1_uc001tgb.3_Nonsense_Mutation_p.Q208*|APAF1_uc001tgc.3_Nonsense_Mutation_p.Q208*	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	208	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ACGGTTGGATCAGGATGAGAG	0.478000														48			51		0	0	0.003610	0	0
PPIB	5479	broad.mit.edu	37	15	64449083	64449083	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr15:64449083G>T	uc002and.3	-	3	538	c.369C>A	c.(367-369)ttC>ttA	p.F123L	SNX22_uc002anc.1_3'UTR|SNX22_uc021sow.1_Non-coding_Transcript	NM_000942	NP_000933	P23284	PPIB_HUMAN	Homo sapiens peptidylprolyl isomerase B (cyclophilin B) (PPIB), mRNA.	123	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	TCTCATCGGGGAAGCGCTCAC	0.572000														25			14		1.3612e-06	1.98131e-06	0.003163	1	0
PCDH20	64881	broad.mit.edu	37	13	61986466	61986466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:61986466C>T	uc001vid.4	-	1	2130	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	PCDH20_uc010thj.2_Missense_Mutation_p.G589E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	562	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G588W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTCAGAATTCCTGTGACACT	0.458000														38			23		0	0	0.002780	0	0
CNTN1	1272	broad.mit.edu	37	12	41421659	41421659	+	Splice_Site	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:41421659C>T	uc001rmm.1	+	22	2824	c.2711_splice	c.e22-1	p.P904_splice	CNTN1_uc001rmn.1_Splice_Site_p.P893_splice	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	904	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTTCACAGCTCCTAGCCAG	0.403000														22			12		0	0	0.001368	0	0
FNDC1	84624	broad.mit.edu	37	6	159646676	159646676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:159646676G>A	uc010kjv.3	+	7	1194	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	FNDC1_uc010kjw.1_Missense_Mutation_p.E280K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	332	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACTGTGTATGAATTTGCAGT	0.468000														5			48		0	0	0.003610	0	0
HYLS1	219844	broad.mit.edu	37	11	125769495	125769495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:125769495C>T	uc009zbv.3	+	3	766	c.232C>T	c.(232-234)Cct>Tct	p.P78S	HYLS1_uc001qcx.4_Missense_Mutation_p.P78S|PUS3_uc001qcy.2_Intron|HYLS1_uc021qrw.1_Missense_Mutation_p.P78S	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	Homo sapiens hydrolethalus syndrome 1 (HYLS1), transcript variant 1, mRNA.	78						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		AAGTAATGTCCCTTCAGAAAC	0.478000														22			16		0	0	0.004007	0	0
IL17RE	132014	broad.mit.edu	37	3	9953263	9953263	+	Silent	SNP	C	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:9953263C>A	uc003btu.3	+	12	1333	c.1329C>A	c.(1327-1329)ccC>ccA	p.P443P	CIDEC_uc003bto.3_Intron|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Silent_p.P287P|IL17RE_uc010hcq.3_Silent_p.P403P|IL17RE_uc003btw.3_Silent_p.P403P	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	403						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGGTGCCCCCCGTGTACACTG	0.572000														100			5		0.00116845	0.00167591	0.001168	1	0
DNAH1	25981	broad.mit.edu	37	3	52366279	52366279	+	Silent	SNP	G	A	A	rs141835525	by1000genomes	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:52366279G>A	uc011bef.2	+	7	1416	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	DNAH1_uc003ddt.1_Silent_p.T385T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	385	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAAGAACACGGAAGCACTGC	0.577000														9			11		0	0	0.001368	0	0
AADAC	13	broad.mit.edu	37	3	151535168	151535168	+	Silent	SNP	G	A	A	rs139594209		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:151535168G>A	uc003eze.3	+	1	243	c.153G>A	c.(151-153)gaG>gaA	p.E51E	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	51					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CATTTGTGGAGCTCCTGGGAC	0.398000														13			19		0	0	0.001523	0	0
DNAH17	8632	broad.mit.edu	37	17	76503829	76503829	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:76503829G>T	uc010dhp.2	-	27	4420	c.4295C>A	c.(4294-4296)cCg>cAg	p.P1432Q		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCTGTCCGCGGGTGCGGCTC	0.557000														12			3		0.004672	0.00667671	0.004672	1	0
PIK3R5	23533	broad.mit.edu	37	17	8792125	8792125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:8792125C>T	uc002glt.3	-	9	1046	c.979G>A	c.(979-981)Gag>Aag	p.E327K	PIK3R5_uc010vuz.2_Missense_Mutation_p.E327K|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	327				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus		p.E326Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						acctcctcctcctcctcttcc	0.577000														2			10		0	0	0.006214	0	0
TRIM29	23650	broad.mit.edu	37	11	120008138	120008138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:120008138G>A	uc001pwz.3	-	0	726	c.602C>T	c.(601-603)cCc>cTc	p.P201L	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	201					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCAGGTGGGGCTTGAGATG	0.647000														18			9		0	0	0.004482	0	0
ABAT	18	broad.mit.edu	37	16	8862775	8862775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:8862775C>T	uc002czc.4	+	10	927	c.761C>T	c.(760-762)cCt>cTt	p.P254L	ABAT_uc002czd.4_Missense_Mutation_p.P254L|ABAT_uc010buh.3_Missense_Mutation_p.P196L|ABAT_uc010bui.3_Missense_Mutation_p.P254L	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	254					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTGAAATACCCTCTGGAAGAG	0.537000														72			66		0	0	0.003610	0	0
ALAS1	211	broad.mit.edu	37	3	52238818	52238818	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:52238818C>T	uc011bec.2	+	5	1058	c.738C>T	c.(736-738)ttC>ttT	p.F246F	ALAS1_uc003dcy.2_Silent_p.F229F|ALAS1_uc003dcz.2_Silent_p.F229F	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	229					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CACACATCTTCCCCATGGCAG	0.438000														25			31		0	0	0.008361	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173805	207173805	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:207173805A>T	uc002vbp.2	+	4	4803	c.4553A>T	c.(4552-4554)aAa>aTa	p.K1518I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1518							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATCAGTCAAAGAAACCCAC	0.398000														25			12		0	0	0.003163	0	0
DNAH9	1770	broad.mit.edu	37	17	11650884	11650884	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:11650884G>A	uc002gne.3	+	31	6479	c.6411G>A	c.(6409-6411)ctG>ctA	p.L2137L	DNAH9_uc010coo.3_Silent_p.L1431L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2137	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)		TGGTCCAGCTGGAGGAGCTCC	0.582000														1			13		0	0	0.001855	0	0
USH2A	7399	broad.mit.edu	37	1	216348806	216348806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:216348806G>A	uc001hku.1	-	20	4802	c.4415C>T	c.(4414-4416)cCa>cTa	p.P1472L	USH2A_uc001hkv.3_Missense_Mutation_p.P1472L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1472					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACCAGAGGTGGCCTCAGTTG	0.393000										HNSCC(13;0.011)				5			34		0	0	0.003755	0	0
C1D	10438	broad.mit.edu	37	2	68274371	68274371	+	Silent	SNP	G	C	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:68274371G>C	uc002sea.4	-	1	154	c.72C>G	c.(70-72)tcC>tcG	p.S24S	C1D_uc010fdc.3_Silent_p.S24S|C1D_uc021viu.1_Silent_p.S24S|C1D_uc002sec.3_Silent_p.S24S|C1D_uc002seb.3_Silent_p.S24S	NM_173177	NP_775269	Q13901	C1D_HUMAN	Homo sapiens C1D nuclear receptor corepressor (C1D), transcript variant 2, mRNA.	24	Required for transcriptional repression (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						CAGCACCAATGGAATTCTCAA	0.338000														20			11		0	0	0.008291	0	0
OR4A16	81327	broad.mit.edu	37	11	55110928	55110928	+	Silent	SNP	C	T	T	rs150328499		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:55110928C>T	uc010rie.2	+	0	252	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TAGACTTACTCTGTGATAAAA	0.453000														69			59		0	0	0.003610	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134488128	134488128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:134488128G>A	uc003yuk.2	-	4	969	c.140C>T	c.(139-141)tCc>tTc	p.S47F	ST3GAL1_uc003yum.2_Missense_Mutation_p.S47F	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	47					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CAGGTTCTCGGAGAGCTCCAG	0.577000														26			16		0	0	0.003163	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201725	193201725	+	Splice_Site	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:193201725C>T	uc003ftd.3	-	8	916	c.808_splice	c.e8+1	p.A270_splice	ATP13A4_uc003fte.1_Splice_Site_p.A270_splice|ATP13A4_uc011bsr.1_Splice_Site	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	270					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGGAACTTACCTTTTCTCCCA	0.333000														68			40		0	0	0.008740	0	0
CPZ	8532	broad.mit.edu	37	4	8602950	8602950	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:8602950G>A	uc003glm.3	+	2	396	c.222G>A	c.(220-222)gaG>gaA	p.E74E	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.E63E|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	74	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E74K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGTGGTGGAGGCCAGCTCCG	0.652000														19			15		0	0	0.006122	0	0
TTC18	118491	broad.mit.edu	37	10	75082751	75082751	+	Silent	SNP	G	A	A	rs149669117		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:75082751G>A	uc009xrc.3	-	9	1213	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	TTC18_uc001jty.3_Silent_p.Y364Y|TTC18_uc009xrd.1_Silent_p.Y172Y	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	364							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTAGGTAAGGGTAAACATGAA	0.353000														6			17		0	0	0.008871	0	0
FAM184A	79632	broad.mit.edu	37	6	119301436	119301436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:119301436G>A	uc003pyj.3	-	9	2516	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	FAM184A_uc003pyk.4_Missense_Mutation_p.T603M|FAM184A_uc003pyl.4_Missense_Mutation_p.T603M	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	723								p.T723R(2)|p.T723M(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCGTTCTTGCGTAAACTGGGC	0.438000														3			24		0	0	0.002780	0	0
ABCA11P	79963	broad.mit.edu	37	4	437361	437361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:437361G>A	uc003gaf.4	-	2	1217	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.H299Y|ABCA11P_uc010ibe.3_Missense_Mutation_p.H287Y	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TCTCCAGTATGAATTCTCCTA	0.378000														30			28		0	0	0.002096	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249346	71249346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:71249346C>T	uc001oqr.1	+	0	276	c.245C>T	c.(244-246)tCt>tTt	p.S82F		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	82	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GGCTGTGGTTCTTGTGGCTGC	0.652000														76			77		0	0	0.003610	0	0
GP6	51206	broad.mit.edu	37	19	55526398	55526398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:55526398G>A	uc002qik.3	-	7	939	c.911C>T	c.(910-912)gCt>gTt	p.A304V	GP6_uc002qil.3_Silent_p.G305G|GP6_uc010esq.3_Missense_Mutation_p.A286V	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	304					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCTCTGCACAGCCCTGCCCCT	0.662000														12			8		0	0	0.008291	0	0
TRPM6	140803	broad.mit.edu	37	9	77390934	77390934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:77390934G>A	uc004ajl.1	-	23	3506	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	TRPM6_uc004ajk.1_Missense_Mutation_p.R1085C|TRPM6_uc022bib.1_Missense_Mutation_p.R1085C|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R46C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1090					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGATGTAGCGATAGCGGTTG	0.493000														55			42		0	0	0.003214	0	0
OR4A16	81327	broad.mit.edu	37	11	55110709	55110709	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:55110709C>T	uc010rie.2	+	0	33	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CAGAATTTGTCCTCCTGGGCC	0.388000														11			8		0	0	0.003080	0	0
WASH1	100287171	broad.mit.edu	37	9	17086	17086	+	Silent	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:17086G>A	uc010mgm.1	-	6	905	c.762C>T	c.(760-762)ccC>ccT	p.P254P	WASH1_uc022bcs.1_Non-coding_Transcript|WASH1_uc011llq.1_Non-coding_Transcript|WASH1_uc003zfu.1_Silent_p.P267P	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	254					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding					all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGCAATGCCGGGCAGGTCAG	0.607000														5			5		0	0	0.000602	0	0
SLC14A2	8170	broad.mit.edu	37	18	43246155	43246155	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:43246155C>T	uc002lbe.3	+	11	2344	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	SLC14A2_uc010dnj.3_Nonsense_Mutation_p.R510*	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	510			R -> Q (in dbSNP:rs9960464).			apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.R510Q(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTTCCCTATCGATACCGGAA	0.512000											OREG0024946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			31		0	0	0.004878	0	0
ESYT3	83850	broad.mit.edu	37	3	138181033	138181033	+	Silent	SNP	C	T	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:138181033C>T	uc003esk.3	+	7	1126	c.900C>T	c.(898-900)cgC>cgT	p.R300R	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	300	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CCAACCTGCGCTTCCCTCTGC	0.577000														115			87		0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138421106	138421106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:138421106G>A	uc002tva.1	+	24	4522	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAAATACATGATATTTTTAA	0.363000														9			3		0	0	0.004672	0	0
PLCH2	9651	broad.mit.edu	37	1	2430086	2430087	+	Splice_Site	INS	-	GTGGGGGCC	GTGGGGGCC	rs142848828	by1000genomes	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:2430086_2430087insGTGGGGGCC	uc001aji.1	+	17	2620	c.2346_splice	c.e17+1	p.E782_splice	PLCH2_uc010nyz.2_Splice_Site_p.E571_splice|PLCH2_uc009vle.1_Splice_Site_p.E535_splice|PLCH2_uc001ajj.1_Splice_Site_p.E571_splice|PLCH2_uc001ajk.1_Splice_Site_p.E571_splice|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	783	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E783_I784insVGA(1)|p.E630_I631insVGA(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCGTGGGGAGGTGGGGGCCAG	0.703													---	7	---	---	4	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	4	---	---	4	---					
ANKRD11	29123	broad.mit.edu	37	16	89347908	89347908	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:89347908delG	uc002fmx.1	-	8	5503	c.5042delC	c.(5041-5043)gcafs	p.A1681fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.A1681fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.A1681fs|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.A1638fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1681						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTGAGGGCCTGCCAGCCAGTC	0.592													---	18	---	---	66	---					
KANSL1	284058	broad.mit.edu	37	17	44115908	44115929	+	Frame_Shift_Del	DEL	GTGCTGGCTGTAACCTGTGAGC	-	-			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:44115908_44115929delGTGCTGGCTGTAACCTGTGAGC	uc002ikc.3	-	9	2987_3008	c.2516_2537delGCTCACAGGTTACAGCCAGCAC	c.(2515-2538)agctcacaggttacagccagcacafs	p.S839fs	KANSL1_uc002ikd.3_Frame_Shift_Del_p.S839fs|KANSL1_uc010dav.3_Frame_Shift_Del_p.S839fs|KANSL1_uc010wkb.2_Frame_Shift_Del_p.S170fs|KANSL1_uc010wkc.2_Frame_Shift_Del_p.S107fs	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	839						MLL1 complex	protein binding										ACTTACCGATGTGCTGGCTGTAACCTGTGAGCTAGAGCTGGC	0.595													---	13	---	---	13	---