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
ZFYVE1	53349	broad.mit.edu	37	14	73459951	73459951	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:73459951G>A	uc001xnm.3	-	3	1824	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	ZFYVE1_uc010arj.3_Missense_Mutation_p.P368L	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	368						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGTCCGTGGGAGGGTTGTA	0.562000														40			15		0	0	0.000422831	0	0
MUC17	140453	broad.mit.edu	37	7	100687012	100687012	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:100687012C>T	uc003uxp.1	+	2	12368	c.12315C>T	c.(12313-12315)ttC>ttT	p.F4105F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4105						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)					CCACTTCCTTCCCCACGGTGA	0.542000														39			15		0	0	0.000219431	0	0
HEATR6	63897	broad.mit.edu	37	17	58134511	58134512	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:58134511_58134512GG>AA	uc002iyk.1	-	11	1993_1994	c.1976_1977CC>TT	c.(1975-1977)tcc>tTT	p.S659F	HEATR6_uc010ddk.1_Missense_Mutation_p.S198F|HEATR6_uc010wos.1_Missense_Mutation_p.S491F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	659							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTACGACAATGGAAATGCAGAG	0.559000														61			24		0	0	6.4e-05	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431076	37431076	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:37431076C>T	uc021ppc.1	+	6	1182	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	ANKRD30A_uc001iza.1_Silent_p.I361I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	417						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.393000														25			19		0	0	0.000132079	0	0
SCRN2	90507	broad.mit.edu	37	17	45915659	45915659	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:45915659G>A	uc002imd.3	-	6	1222	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	SCRN2_uc002imf.3_Silent_p.L366L	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	366					proteolysis		dipeptidase activity	p.L366L(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						ATCAGCCCCAGGGCTGCCTGG	0.592000														40			7		0	0	8.12818e-05	0	0
TEP1	7011	broad.mit.edu	37	14	20876287	20876287	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:20876287G>A	uc001vxe.3	-	1	352	c.312C>T	c.(310-312)atC>atT	p.I104I	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.I104I	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	104					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCAAGGAGAGGATGTCTGGGT	0.542000														59			32		0	0	0.000491102	0	0
PARP16	54956	broad.mit.edu	37	15	65553251	65553251	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:65553251G>A	uc002aoq.3	-	4	1059	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	PARP16_uc002aoo.3_Silent_p.L269L|PARP16_uc002aop.3_Silent_p.L154L	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	269	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAATACACCAGGAGGTACTTC	0.488000														69			35		0	0	0.000270559	0	0
HRH1	3269	broad.mit.edu	37	3	11300948	11300948	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:11300948C>T	uc010hdr.3	+	1	567	c.225C>T	c.(223-225)atC>atT	p.I75I	HRH1_uc010hds.3_Silent_p.I75I|HRH1_uc010hdt.3_Silent_p.I75I|HRH1_uc003bwb.4_Silent_p.I75I|HRH1_uc021wtb.1_Silent_p.I75I	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	75					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)	CGGACTTGATCGTGGGTGCCG	0.572000														25			10		0	0	0.000673444	0	0
CPT1A	1374	broad.mit.edu	37	11	68542866	68542866	+	Missense_Mutation	SNP	T	C	C	rs80356791		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:68542866T>C	uc001oog.4	-	12	1663	c.1493A>G	c.(1492-1494)tAt>tGt	p.Y498C	CPT1A_uc001oof.4_Missense_Mutation_p.Y498C	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	498			Y -> C (in CPT1AD; decreased activity).		carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATCCTCCGCATAGCCCAGCTG	0.473000														44			21		0	0	0.00047179	0	0
CMTM1	113540	broad.mit.edu	37	16	66612745	66612745	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:66612745C>T	uc002epr.4	+	3	769	c.702C>T	c.(700-702)ctC>ctT	p.L234L	CMTM1_uc021tjs.1_Intron|CMTM1_uc021tjt.1_Silent_p.L116L|CMTM1_uc021tju.1_Silent_p.L63L|CMTM1_uc002eph.4_Intron|CMTM1_uc002epi.4_Silent_p.L117L|CMTM1_uc002epl.4_Silent_p.L70L|CMTM1_uc002epj.4_Intron|CMTM1_uc002epk.4_Silent_p.L64L|CMTM1_uc002epa.4_Intron|CMTM1_uc002epb.4_Intron|CMTM1_uc002epc.4_Non-coding_Transcript|CMTM1_uc002epd.4_Non-coding_Transcript|CMTM1_uc002epe.4_Non-coding_Transcript|CMTM1_uc002epf.4_Intron|CMTM1_uc002epg.4_Non-coding_Transcript|CMTM1_uc002epm.4_Intron|CMTM1_uc002epo.4_Non-coding_Transcript|CMTM1_uc002epp.4_Non-coding_Transcript|CMTM1_uc002epq.4_Intron|CMTM1_uc010cds.3_Intron|CMTM1_uc002epn.4_Intron|CMTM1_uc002eps.3_Non-coding_Transcript|CMTM2_uc002ept.3_5'Flank|CMTM2_uc010cdu.3_5'Flank	NM_052999	NP_443725	Q8IZ96	CKLF1_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 1 (CMTM1), transcript variant 17, mRNA.	117					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CCCTGTGTCTCACAGCGGTAA	0.488000														47			15		0	0	0.00074312	0	0
HYDIN	54768	broad.mit.edu	37	16	71127815	71127815	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:71127815G>A	uc002ezr.3	-	10	1502	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	HYDIN_uc010cfz.2_Nonsense_Mutation_p.R196*|HYDIN_uc021tkq.1_Nonsense_Mutation_p.R451*|HYDIN_uc010vmc.2_Nonsense_Mutation_p.R468*|HYDIN_uc010vmd.2_Nonsense_Mutation_p.R478*|HYDIN_uc002ezw.4_Nonsense_Mutation_p.R468*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	451			R -> P (in dbSNP:rs7200485).					p.R451R(5)|p.R451Q(2)		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)				CCTTTGATTCGGAGGGGCAGA	0.428000														28			18		0	0	0.000958276	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524513	26524513	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:26524513T>G	uc010oez.2	+	4	623	c.623T>G	c.(622-624)cTg>cGg	p.L208R	CATSPER4_uc010oey.1_Missense_Mutation_p.L30R|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	208					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGTCATCCTGCAGTCGGTG	0.637000														97			42		0	0	0.000781405	0	0
USP43	124739	broad.mit.edu	37	17	9590126	9590126	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:9590126C>T	uc010cod.3	+	7	1253	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	USP43_uc002gma.4_Missense_Mutation_p.P107L|USP43_uc010vva.2_Missense_Mutation_p.P418L|USP43_uc010coe.3_Missense_Mutation_p.P215L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	418					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTTGGGCCACCCTTCCTGATA	0.522000														13			4		0	0	0.00024832	0	0
ODZ4	26011	broad.mit.edu	37	11	78413362	78413362	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:78413362G>A	uc001ozl.4	-	27	4759	c.4296C>T	c.(4294-4296)atC>atT	p.I1432I		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1432					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						GGTTTTCAGAGATTTGCAGGA	0.542000														56			26		0	0	0.000878237	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136232	92136232	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:92136232G>A	uc001xzs.1	-	13	1353	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	405					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATGATGAAGGAAACCGAAAA	0.413000														25			10		0	0	0.000673444	0	0
GCNT1	2650	broad.mit.edu	37	9	79117777	79117777	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:79117777T>A	uc022bif.1	+	0	480	c.480T>A	c.(478-480)gaT>gaA	p.D160E	GCNT1_uc010mpf.3_Missense_Mutation_p.D160E|GCNT1_uc010mpg.3_Missense_Mutation_p.D160E|GCNT1_uc010mph.3_Missense_Mutation_p.D160E|GCNT1_uc004akf.4_Missense_Mutation_p.D160E|GCNT1_uc010mpi.3_Missense_Mutation_p.D160E|GCNT1_uc004akh.4_Missense_Mutation_p.D160E	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	160	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AATCCGAGGATTCCTATTTAG	0.463000														47			23		0	0	0.000878237	0	0
PRC1	9055	broad.mit.edu	37	15	91517926	91517927	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:91517926_91517927CC>AA	uc002bqm.3	-	9	1395_1396	c.1238_1239GG>TT	c.(1237-1239)tgg>tTT	p.W413F	PRC1_uc002bqn.3_Missense_Mutation_p.W413F|PRC1_uc002bqo.3_Missense_Mutation_p.W413F|PRC1_uc010uqs.2_Missense_Mutation_p.W372F	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	413	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	p.W413L(2)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTTCCTGTTCCCACAATTCAAT	0.416000														697			13		0	0	6.4e-05	0	0
ZNF486	90649	broad.mit.edu	37	19	20296821	20296821	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:20296821G>A	uc002nou.2	+	2	240	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGCCAGACCTGATCACCTGTC	0.378000														48			24		0	0	0.000878237	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936867	119936867	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:119936867C>T	uc003yon.4	-	4	1275	c.952G>A	c.(952-954)Gca>Aca	p.A318T		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	318	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GGTTTGCATGCCTTTATTGTT	0.468000														61			19		0	0	0.000958276	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					48			21		0	0	0.00047179	0	0
SPEF2	79925	broad.mit.edu	37	5	35753855	35753855	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:35753855C>A	uc003jjo.3	+	23	3571	c.3460C>A	c.(3460-3462)Ctg>Atg	p.L1154M	SPEF2_uc003jjp.1_Missense_Mutation_p.L640M	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1154					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCTTTTCCCTGATGCAGGT	0.488000														96			32		3.90053e-15	3.44418e-14	0.000409698	1	0
ANO1	55107	broad.mit.edu	37	11	70007349	70007349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:70007349C>T	uc001opj.3	+	16	1966	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.P496L|ANO1_uc010rqk.2_Missense_Mutation_p.P263L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	554					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AACTCCTCCCCCTCCGTGCGG	0.592000														42			16		0	0	0.000566183	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717367	2717367	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:2717367G>A	uc002lwf.3	-	1	596	c.438C>T	c.(436-438)ttC>ttT	p.F146F	DIRAS1_uc021umt.1_Silent_p.F146F	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	146					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		AGGTCTCCATGAAAGCGCACT	0.622000														29			14		0	0	0.000308642	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710060	112710060	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:112710060G>A	uc003dzn.3	+	0	261	c.214G>A	c.(214-216)Gac>Aac	p.D72N	GTPBP8_uc003dzp.2_Non-coding_Transcript|GTPBP8_uc003dzo.3_Missense_Mutation_p.D72N	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	Homo sapiens GTP-binding protein 8 (putative) (GTPBP8), transcript variant 1, mRNA.	72					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GCGTATCTTTGACCCAAGCCC	0.622000														26			10		0	0	0.000978159	0	0
OR52D1	390066	broad.mit.edu	37	11	5510609	5510609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:5510609C>T	uc010qzg.2	+	0	695	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I224T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTTTATCCTCCATGCAGT	0.488000														95			35		0	0	0.000692331	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505180	37505180	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:37505180C>T	uc021ppc.1	+	31	2872	c.2773C>T	c.(2773-2775)Cac>Tac	p.H925Y	ANKRD30A_uc001iza.1_Missense_Mutation_p.H925Y	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	981						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCAAAAAGATCACTGTGAACA	0.328000														29			30		0	0	0.000409698	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706636	26706636	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:26706636G>A	uc003acb.3	+	7	1711	c.1515_splice	c.e7-1	p.R505_splice	SEZ6L_uc003acd.3_Splice_Site_p.R505_splice|SEZ6L_uc011akd.2_Splice_Site_p.R505_splice|SEZ6L_uc003ace.3_Splice_Site_p.R505_splice|SEZ6L_uc011akc.2_Splice_Site_p.R505_splice|SEZ6L_uc003acc.3_Splice_Site_p.R505_splice|SEZ6L_uc003acf.1_Splice_Site_p.R278_splice|SEZ6L_uc010gvc.1_Splice_Site_p.R278_splice	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	505	CUB 2.					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						CCACTGCCAGGATGACGGTTC	0.562000														31			9		0	0	0.000442599	0	0
PFDN4	5203	broad.mit.edu	37	20	52831950	52831950	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:52831950G>A	uc002xwx.3	+	2	382	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.	82					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			TTCTCAAGAAGAAACGCAAGA	0.318000														36			14		0	0	0.000219431	0	0
BDP1	55814	broad.mit.edu	37	5	70809023	70809023	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:70809023C>T	uc003kbp.1	+	18	4522	c.4259C>T	c.(4258-4260)cCt>cTt	p.P1420L	BDP1_uc003kbo.3_Missense_Mutation_p.P1420L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1420					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAATCTCTTCCTCAAGAACAG	0.428000														30			14		0	0	0.00074312	0	0
TSGA10	80705	broad.mit.edu	37	2	99722033	99722033	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:99722033C>T	uc002szg.4	-	5	966	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	TSGA10_uc002szh.4_Missense_Mutation_p.R113Q|TSGA10_uc002szi.4_Missense_Mutation_p.R113Q|TSGA10_uc010fin.1_Missense_Mutation_p.R113Q|TSGA10_uc010yvn.1_Missense_Mutation_p.R113Q	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	113					spermatogenesis	cytoplasm|nuclear membrane		p.R113*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GGTCATTCTTCGTAAATCAGT	0.398000														123			54		0	0	0.000781405	0	0
MUC17	140453	broad.mit.edu	37	7	100680207	100680207	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:100680207G>A	uc003uxp.1	+	2	5563	c.5510G>A	c.(5509-5511)aGt>aAt	p.S1837N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1837	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)					GACTCTAACAGTCCTGTGGTC	0.493000														154			89		0	0	0.000781405	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581004	1581004	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:1581004G>A	uc003wpl.3	+	4	1459	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	DLGAP2_uc003wpm.3_Silent_p.A454A	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	533					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.A476A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAGCGAGGCGGAGATCAATG	0.572000														7			6		0	0	0.000274275	0	0
SIRT7	51547	broad.mit.edu	37	17	79873357	79873357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:79873357G>A	uc002kcj.2	-	4	490	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F		NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	Homo sapiens sirtuin 7 (SIRT7), mRNA.	147	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATGTGGGTGAGGGTTGGCTCG	0.647000														12			4		0	0	0.00024832	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508179	37508179	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:37508179C>T	uc021ppc.1	+	33	3470	c.3371C>T	c.(3370-3372)tCt>tTt	p.S1124F	ANKRD30A_uc001iza.1_Missense_Mutation_p.S1124F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATGCTCACTTCTAAATTGAAG	0.383000														44			57		0	0	0.000781405	0	0
MUC3A	4584	broad.mit.edu	37	7	100551902	100551903	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:100551902_100551903GG>TT	uc003uxl.1	+	0	1153_1154	c.353_354GG>TT	c.(352-354)agg>aTT	p.R118I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTTCACTAGGGGAAGTACGT	0.436000														552			14		0	0	6.4e-05	0	0
ABCB9	23457	broad.mit.edu	37	12	123430577	123430577	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:123430577T>A	uc001udm.4	-	5	1556	c.1246A>T	c.(1246-1248)Agc>Tgc	p.S416C	ABCB9_uc021rfo.1_Missense_Mutation_p.S416C|ABCB9_uc021rfp.1_Missense_Mutation_p.S416C|ABCB9_uc010tai.2_5'Flank|ABCB9_uc001udo.4_Missense_Mutation_p.S416C|ABCB9_uc010taj.2_Missense_Mutation_p.S416C|ABCB9_uc001udq.3_Missense_Mutation_p.S198C|ABCB9_uc021rfq.1_Missense_Mutation_p.S416C|ABCB9_uc001udr.3_Missense_Mutation_p.S416C	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	416	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CGTACCCCGCTGCCCCAGACG	0.597000														12			8		0	0	0.000442599	0	0
PRSS58	136541	broad.mit.edu	37	7	141952365	141952365	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:141952365G>A	uc003vxb.3	-	3	823	c.503C>T	c.(502-504)gCc>gTc	p.A168V	PRSS58_uc003vxc.4_Missense_Mutation_p.A168V	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	168	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D167H(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGTTTTATAGGCATCGCGACA	0.423000														49			29		0	0	0.000409698	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625521	25625521	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:25625521C>T	uc003abp.1	+	4	473	c.425C>T	c.(424-426)tCa>tTa	p.S142L		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	142	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GAGAAGGTGTCATCTGTGCGG	0.562000														17			6		0	0	8.12818e-05	0	0
IMPA2	3613	broad.mit.edu	37	18	12028930	12028930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:12028930G>A	uc002kqp.2	+	6	931	c.689G>A	c.(688-690)tGg>tAg	p.W230*	IMPA2_uc021uhq.1_Nonsense_Mutation_p.W41*	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	230					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CTGCACTGCTGGGATCTGGCG	0.597000														29			13		0	0	0.00010058	0	0
ASAP1	50807	broad.mit.edu	37	8	131124416	131124416	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:131124416G>A	uc003yta.2	-	23	2553	c.2325C>T	c.(2323-2325)ttC>ttT	p.F775F	ASAP1_uc003ysz.2_Silent_p.F586F|ASAP1_uc011liw.2_Silent_p.F768F	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	775					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding	p.F775F(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGTGGAAACGAAGATCTGGT	0.587000														51			27		0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9067484	9067484	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:9067484G>A	uc002mkp.3	-	2	20166	c.19962C>T	c.(19960-19962)tcC>tcT	p.S6654S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6656	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F6653L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGAGCCAGGGAGAATGTTG	0.502000														56			22		0	0	0.000229342	0	0
FAM5C	339479	broad.mit.edu	37	1	190067636	190067637	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:190067636_190067637GG>TT	uc001gse.1	-	7	2044_2045	c.1812_1813CC>AA	c.(1810-1815)cccctg>ccAAtg	p.L605M	FAM5C_uc010pot.1_Missense_Mutation_p.L503M	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	605						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TAACACTGCAGGGGTAGGTCCA	0.465000														251			8		0	0	6.4e-05	0	0
SGK1	6446	broad.mit.edu	37	6	134491988	134491988	+	Silent	SNP	A	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:134491988A>G	uc003qen.4	-	10	1193	c.1104T>C	c.(1102-1104)atT>atC	p.I368I	SGK1_uc003qeo.4_Silent_p.I463I|SGK1_uc011ect.2_Silent_p.I358I|SGK1_uc011ecu.2_Silent_p.I324I|SGK1_uc011ecv.2_Silent_p.I382I|SGK1_uc011ecw.2_Silent_p.I396I	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	368	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AAGGGGGAGTAATCTTCTTAT	0.373000														98			43		0	0	0.000781405	0	0
MPP2	4355	broad.mit.edu	37	17	41955276	41955276	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:41955276G>A	uc010win.1	-	11	1744	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	MPP2_uc002ien.1_Silent_p.L537L|MPP2_uc010wim.1_Silent_p.L509L|MPP2_uc002ieo.1_Silent_p.L520L|MPP2_uc010wio.1_Silent_p.L509L|MPP2_uc010wip.1_Silent_p.L565L			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	544	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTATTGACCAGGCAGAGGTCA	0.637000														23			17		0	0	0.000132079	0	0
PLXNB1	5364	broad.mit.edu	37	3	48453414	48453414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:48453414G>A	uc003csw.2	-	27	5375	c.5105C>T	c.(5104-5106)tCc>tTc	p.S1702F	PLXNB1_uc003cst.2_Missense_Mutation_p.S152F|PLXNB1_uc003csu.2_Missense_Mutation_p.S1519F|PLXNB1_uc003csx.2_Missense_Mutation_p.S1702F	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1702					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCCCTACGGAGTCCTAGGA	0.572000														79			35		0	0	0.000814825	0	0
MAN2A2	4122	broad.mit.edu	37	15	91462949	91462950	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:91462949_91462950CC>AA	uc010bnz.2	+	22	3500_3501	c.3385_3386CC>AA	c.(3385-3387)ccg>AAg	p.P1129K	MAN2A2_uc002bqc.3_Missense_Mutation_p.P1129K|MAN2A2_uc010uql.2_Missense_Mutation_p.P791K|MAN2A2_uc010uqm.2_Missense_Mutation_p.P708K|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1129					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCTGGCCTCCCCGTCCAACAGC	0.545000														504			12		0	0	6.4e-05	0	0
SLC9C2	284525	broad.mit.edu	37	1	173494043	173494043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:173494043C>T	uc001giz.2	-	19	2812	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	SLC9C2_uc009wwe.2_Missense_Mutation_p.D355N|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	797					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATGACAACATCACGACCCTCA	0.348000														42			20		0	0	0.000175454	0	0
DPY19L4	286148	broad.mit.edu	37	8	95751719	95751720	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:95751719_95751720CG>AT	uc003ygx.2	+	4	546_547	c.422_423CG>AT	c.(421-423)ccg>cAT	p.P141H	DPY19L4_uc003ygy.3_Missense_Mutation_p.P78H	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	141						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TCTCTGTATCCGGAACTTATTG	0.342000														533			10		0	0	6.4e-05	0	0
HIST1H4J	8363	broad.mit.edu	37	6	27792209	27792209	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:27792209G>A	uc003njp.3	+	0	307	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	FKSG63_uc003njq.2_5'Flank	NM_021968	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4j (HIST1H4J), mRNA.	103					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(1)|pancreas(1)	4						CGGTTTCGGTGGTTGAGCGTC	0.567000														17			11		0	0	0.000175454	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88272447	88272447	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:88272447C>T	uc011lte.2	-	8	1035	c.968G>A	c.(967-969)gGa>gAa	p.G323E	AGTPBP1_uc011ltc.2_Missense_Mutation_p.G169E|AGTPBP1_uc011ltd.2_Missense_Mutation_p.G271E|AGTPBP1_uc010mqc.3_Missense_Mutation_p.G271E	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	271					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTGTAAAATTCCTTTCCGAAT	0.373000														27			11		0	0	0.000673444	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106510452	106510452	+	Missense_Mutation	SNP	C	T	T	rs145953652	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:106510452C>T	uc003hxv.2	+	1	390	c.244C>T	c.(244-246)Cca>Tca	p.P82S	ARHGEF38_uc003hxu.3_Missense_Mutation_p.P82S	NM_001242729	NP_001229658	Q9NXL2	ARH38_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 38 (ARHGEF38), transcript variant 1, mRNA.	82					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GACCTTAACCCCAGAGGAAGA	0.418000														36			21		0	0	0.000132079	0	0
POLN	353497	broad.mit.edu	37	4	2083370	2083370	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:2083370G>A	uc003ger.2	-	19	2310	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	POLN_uc010icg.1_Silent_p.F214F|POLN_uc010ich.1_Silent_p.F298F	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	766					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTGCACCACGAAGTTCACTG	0.567000								DNA polymerases (catalytic subunits)						17			5		0	0	0.000602214	0	0
THYN1	29087	broad.mit.edu	37	11	134120208	134120208	+	Silent	SNP	G	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:134120208G>T	uc001qhf.3	-	3	354	c.252C>A	c.(250-252)ccC>ccA	p.P84P	THYN1_uc001qhg.3_Silent_p.P84P|THYN1_uc001qhh.3_Silent_p.P84P|THYN1_uc001qhi.3_Silent_p.P84P|THYN1_uc001qhj.3_Silent_p.P84P|THYN1_uc009zdb.3_Silent_p.P84P	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	84						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TTGTCTGTTTGGGCTGTGCTT	0.483000														35			15		2.62699e-14	2.31394e-13	0.000308642	1	0
ECEL1	9427	broad.mit.edu	37	2	233347635	233347635	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:233347635C>T	uc002vsv.2	-	9	1816	c.1611G>A	c.(1609-1611)aaG>aaA	p.K537K	ECEL1_uc010fya.1_Silent_p.K537K|ECEL1_uc010fyb.1_Silent_p.K244K	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	537					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCAAGATGTTCTTGAAGTAGG	0.592000														85			41		0	0	0.000509022	0	0
FAT3	120114	broad.mit.edu	37	11	92498204	92498205	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:92498204_92498205GG>TT	uc001pdj.4	+	4	4161_4162	c.4144_4145GG>TT	c.(4144-4146)ggg>TTg	p.G1382L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1382	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAATTGTAGGGGTGGTGTCT	0.431000										TCGA Ovarian(4;0.039)				332			9		0	0	6.4e-05	0	0
LAMB4	22798	broad.mit.edu	37	7	107708553	107708553	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:107708553C>T	uc010ljo.1	-	18	2438	c.2354G>A	c.(2353-2355)gGa>gAa	p.G785E	LAMB4_uc003vey.2_Missense_Mutation_p.G785E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	785	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCACTGGCCTCCAAGTCGGCT	0.562000														80			39		0	0	0.00111076	0	0
TAF1A	9015	broad.mit.edu	37	1	222750876	222750877	+	Missense_Mutation	DNP	CG	AT	AT	rs145721552	by1000genomes	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:222750876_222750877CG>AT	uc009xdz.2	-	4	723_724	c.514_515CG>AT	c.(514-516)cgg>ATg	p.R172M	TAF1A_uc001hni.2_Missense_Mutation_p.R58M|TAF1A_uc001hnj.3_Missense_Mutation_p.R172M|TAF1A_uc010pur.2_Missense_Mutation_p.R172M	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.R172R(2)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TAATATTTCCCGGGAAGACGTA	0.381000														670			12		0	0	6.4e-05	0	0
ARNTL2	56938	broad.mit.edu	37	12	27533206	27533206	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:27533206G>A	uc001rht.2	+	4	572	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	ARNTL2_uc001rhu.2_Missense_Mutation_p.R104Q|ARNTL2_uc001rhv.2_Missense_Mutation_p.R70Q|ARNTL2_uc001rhw.3_Missense_Mutation_p.R81Q|ARNTL2_uc010sjp.2_Missense_Mutation_p.R81Q|ARNTL2_uc009zji.2_Missense_Mutation_p.R84Q	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	118					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTGAAAAGCGGAGGAGAGAT	0.443000														24			13		0	0	0.000422831	0	0
GEM	2669	broad.mit.edu	37	8	95262563	95262563	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:95262563G>A	uc003ygi.3	-	4	990	c.866C>T	c.(865-867)tCc>tTc	p.S289F	GEM_uc003ygj.3_Missense_Mutation_p.S289F	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	289					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCATGGCAGGATTTGGACTT	0.493000														50			16		0	0	0.000132079	0	0
MYH15	22989	broad.mit.edu	37	3	108117571	108117571	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:108117571G>A	uc003dxa.1	-	35	5163	c.5106C>T	c.(5104-5106)tcC>tcT	p.S1702S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1702						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTCTTGCAGGGACCTTAGAT	0.522000														135			61		0	0	0.000781405	0	0
TEX15	56154	broad.mit.edu	37	8	30694961	30694961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:30694961G>A	uc003xil.3	-	2	7690	c.7690C>T	c.(7690-7692)Cct>Tct	p.P2564S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2564										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCAGAGTAGGAATTTTGTTC	0.363000														50			22		0	0	0.00047179	0	0
TEP1	7011	broad.mit.edu	37	14	20845893	20845893	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:20845893G>A	uc001vxe.3	-	39	5781	c.5741C>T	c.(5740-5742)tCt>tTt	p.S1914F	TEP1_uc010ahk.3_Missense_Mutation_p.S1257F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S1806F|TEP1_uc010tlh.1_Missense_Mutation_p.S252F	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1914					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGACCCAGAGACCCTGACCA	0.587000														26			15		0	0	0.000422831	0	0
FAM40B	57464	broad.mit.edu	37	7	129103887	129103887	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:129103887C>T	uc011koy.2	+	14	1594	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	FAM40B_uc003vow.3_Silent_p.I518I|FAM40B_uc011koz.2_Silent_p.I10I	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	518										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCTCAGATCGCTCTGCTTA	0.448000														21			12		0	0	0.000978159	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100482	27100482	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:27100482C>T	uc003niv.3	-	0	94	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST1H2BJ_uc003niu.1_Non-coding_Transcript|HIST1H2AG_uc003niw.3_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	Homo sapiens histone cluster 1, H2bj (HIST1H2BJ), mRNA.	16					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						TCACCGCCTTCTTGGAGCCCT	0.547000														70			30		0	0	0.000227799	0	0
SEMA4F	10505	broad.mit.edu	37	2	74884745	74884745	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:74884745G>A	uc002sna.1	+	2	462	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SEMA4F_uc010ysb.1_Silent_p.K117K|SEMA4F_uc021vjn.1_Silent_p.K117K|SEMA4F_uc010ffq.1_Silent_p.K117K|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.K117K	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	117	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGAAAGGCAAGAAAGAGGTAG	0.488000														53			13		0	0	0.000566183	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173398	47173398	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:47173398C>A	uc001rpi.2	-	9	1112	c.713G>T	c.(712-714)aGt>aTt	p.S238I	SLC38A4_uc001rpj.2_Missense_Mutation_p.S238I|SLC38A4_uc009zkl.2_Missense_Mutation_p.S238I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	238					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACTTACCACACTAACAAAAAA	0.378000														73			45		5.34276e-22	4.72933e-21	0.000781405	1	0
TP63	8626	broad.mit.edu	37	3	189612269	189612269	+	Missense_Mutation	SNP	G	A	A	rs34713855	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:189612269G>A	uc003fry.2	+	13	2110	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.R580H|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.R495H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	674	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AAGCAACAGCGCATCAAAGAG	0.537000										HNSCC(45;0.13)				23			11		0	0	0.00010058	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21790021	21790021	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:21790021G>A	uc001wag.3	+	12	1620	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	RPGRIP1_uc001wah.3_Silent_p.L182L|RPGRIP1_uc001wai.3_Silent_p.L182L|RPGRIP1_uc001waj.1_Silent_p.L16L|RPGRIP1_uc001wak.3_Silent_p.L15L|RPGRIP1_uc010aim.3_5'UTR|RPGRIP1_uc001wal.3_5'UTR|RPGRIP1_uc001wam.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	540					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGGAGGAACTGGAGGCAATGA	0.408000														12			6		0	0	0.000157383	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850594	58850594	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:58850594G>A	uc002qsc.2	+	2	1525	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	460					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GATCCACACGGGAGAGAAGCC	0.537000														30			14		0	0	0.000219431	0	0
CD177	57126	broad.mit.edu	37	19	43857896	43857897	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:43857896_43857897GG>AA	uc002owi.3	+	0	72_73	c.30_31GG>AA	c.(28-33)ctgggg>ctAAgg	p.G11R	CD177_uc021uvf.1_Missense_Mutation_p.G11R|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	11					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGGCCCTCCTGGGGTTCATCCT	0.559000														54			35		0	0	6.4e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152652462	152652462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:152652462G>A	uc021zhb.1	-	75	13581	c.13358C>T	c.(13357-13359)tCc>tTc	p.S4453F	SYNE1_uc003qot.4_Missense_Mutation_p.S4382F|SYNE1_uc003qou.4_Missense_Mutation_p.S4453F|SYNE1_uc010kiz.3_Missense_Mutation_p.S208F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4453					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.S4453S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTTTTCTCGGACAAGGCTTT	0.478000										HNSCC(10;0.0054)				37			10		0	0	0.00010058	0	0
C12orf51	283450	broad.mit.edu	37	12	112632753	112632753	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:112632753G>A	uc021reb.1	-	55	8679	c.8283C>T	c.(8281-8283)atC>atT	p.I2761I		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TAATGTCCCGGATGGCAGGGA	0.577000														7			5		0	0	3.59834e-05	0	0
SPHK2	56848	broad.mit.edu	37	19	49131265	49131265	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:49131265G>A	uc002pjw.3	+	2	1578	c.881G>A	c.(880-882)gGg>gAg	p.G294E	SPHK2_uc010xzt.2_Missense_Mutation_p.G173E|SPHK2_uc002pjt.3_Missense_Mutation_p.G26E|SPHK2_uc002pjr.3_Missense_Mutation_p.G232E|SPHK2_uc002pjs.3_Missense_Mutation_p.G232E|SPHK2_uc002pju.3_Missense_Mutation_p.G196E|SPHK2_uc002pjv.3_Missense_Mutation_p.G196E|SPHK2_uc010xzu.1_Missense_Mutation_p.G196E	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	232	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTGGTCCAGGGGCTGAGCCTG	0.662000														30			14		0	0	0.000219431	0	0
LGMN	5641	broad.mit.edu	37	14	93176153	93176153	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:93176153G>A	uc001yav.3	-	11	1245	c.884C>T	c.(883-885)cCc>cTc	p.P295L	LGMN_uc001yat.3_Missense_Mutation_p.P295L|LGMN_uc001yau.3_Missense_Mutation_p.P295L|LGMN_uc001yaw.3_Missense_Mutation_p.P295L	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	295					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TGGAGGTAGGGGGACGGGAGA	0.522000														54			25		0	0	0.000878237	0	0
BAI1	575	broad.mit.edu	37	8	143563057	143563057	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:143563057C>T	uc003ywm.3	+	9	2298	c.2115C>T	c.(2113-2115)acC>acT	p.T705T		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	705					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCCCCACCCCTGGGGACG	0.602000														4			5		0	0	3.59834e-05	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212522	100212522	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:100212522C>T	uc003uvq.3	+	4	746	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F	MOSPD3_uc003uvr.3_Missense_Mutation_p.L182F|MOSPD3_uc003uvs.3_Missense_Mutation_p.L182F|MOSPD3_uc003uvt.3_Missense_Mutation_p.L172F	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	182						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGCTCCTTCCTCCTCTTCTT	0.627000														42			22		0	0	0.000375601	0	0
ZNF773	374928	broad.mit.edu	37	19	58016027	58016027	+	Silent	SNP	G	A	A	rs139350568	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:58016027G>A	uc002qox.3	+	1	176	c.36G>A	c.(34-36)caG>caA	p.Q12Q	ZNF773_uc002qoy.3_Splice_Site_p.G12_splice|ZNF773_uc021vcl.1_Silent_p.Q12Q	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CATCTTAGCAGGGCTATGTGA	0.522000														86			37		0	0	0.000509022	0	0
SCN8A	6334	broad.mit.edu	37	12	52184212	52184212	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:52184212G>A	uc001ryw.3	+	24	4628	c.4450G>A	c.(4450-4452)Gaa>Aaa	p.E1484K	SCN8A_uc010snl.2_Missense_Mutation_p.E1443K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1484					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CATGACCGAAGAACAGAAGAA	0.478000														17			10		0	0	0.000673444	0	0
NLRP2	55655	broad.mit.edu	37	19	55481567	55481567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:55481567C>T	uc021vbq.1	+	1	295	c.184C>T	c.(184-186)Cat>Tat	p.H62Y	NLRP2_uc010yfp.2_Intron|NLRP2_uc002qij.3_Missense_Mutation_p.H62Y|NLRP2_uc010esp.3_Missense_Mutation_p.H62Y|NLRP2_uc010esn.3_Missense_Mutation_p.H62Y|NLRP2_uc010eso.3_Missense_Mutation_p.H62Y	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	62	DAPIN.				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)		CCTCACCACCCATTGTGACAG	0.527000														51			22		0	0	0.000229342	0	0
METTL2A	339175	broad.mit.edu	37	17	60501661	60501662	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:60501661_60501662GG>AA	uc002izv.2	+	1	210_211	c.192_193GG>AA	c.(190-195)caggag>caAAag	p.E65K	METTL2A_uc002izw.3_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	65							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GGGTGTGCCAGGAGAAACAAGG	0.604000											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			7		0	0	6.4e-05	0	0
EXD1	161829	broad.mit.edu	37	15	41482292	41482292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:41482292G>A	uc010ucv.2	-	10	1171	c.899C>T	c.(898-900)tCa>tTa	p.S300L	EXD1_uc001znj.3_Missense_Mutation_p.S40L|EXD1_uc001znk.3_Missense_Mutation_p.S242L	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	242					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TAAAGAGGGTGAAACAGGTCG	0.428000														73			35		0	0	0.000953801	0	0
PRLR	5618	broad.mit.edu	37	5	35070305	35070305	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:35070305G>A	uc003jjm.3	-	6	1165	c.606C>T	c.(604-606)taC>taT	p.Y202Y	PRLR_uc003jjk.1_Silent_p.Y131Y|PRLR_uc003jjg.2_Silent_p.Y202Y|PRLR_uc003jjh.2_Silent_p.Y202Y|PRLR_uc003jji.2_Silent_p.Y131Y|PRLR_uc003jjj.2_Silent_p.Y202Y|PRLR_uc003jjl.4_Silent_p.Y101Y|PRLR_uc021xxl.1_Silent_p.Y202Y|PRLR_uc010iuw.1_Silent_p.Y131Y	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	202	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTGGACAAGGTATTTCTGTC	0.448000														47			11		0	0	0.000151284	0	0
ENPEP	2028	broad.mit.edu	37	4	111409721	111409721	+	Silent	SNP	A	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:111409721A>G	uc003iab.4	+	1	1011	c.669A>G	c.(667-669)gaA>gaG	p.E223E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	223					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCGATCATGAACCAACAGATG	0.423000														9			4		0	0	0.00024832	0	0
OR1L3	26735	broad.mit.edu	37	9	125437994	125437994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:125437994G>A	uc011lzb.2	+	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTTTGTCAATGAAATTGTGGC	0.433000														107			44		0	0	0.000781405	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947294	37947294	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:37947294G>A	uc001cbb.4	+	3	826	c.676G>A	c.(676-678)Gac>Aac	p.D226N	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	226					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGCTATGACGACAGATTCAT	0.577000														49			24		0	0	0.000720815	0	0
PTPN23	25930	broad.mit.edu	37	3	47453620	47453620	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:47453620C>T	uc003crf.1	+	21	4206	c.4110C>T	c.(4108-4110)ttC>ttT	p.F1370F	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.F1240F|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1370	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.R1369S(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTGCGCTTCATCCAGGAGG	0.622000														34			19		0	0	0.000295444	0	0
LBP	3929	broad.mit.edu	37	20	36999934	36999934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:36999934G>A	uc002xic.1	+	11	1263	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	410					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGTAAAAGTGGAACTGAAAGA	0.383000														32			12		0	0	0.000219431	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661959	77661959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:77661959C>T	uc011cbx.2	+	4	3586	c.2633C>T	c.(2632-2634)cCc>cTc	p.P878L	SHROOM3_uc011cbz.1_Missense_Mutation_p.P702L|SHROOM3_uc003hkf.1_Missense_Mutation_p.P753L|SHROOM3_uc003hkg.3_Missense_Mutation_p.P656L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	878					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCGTGGCCCCCAGAGGCCG	0.697000														15			8		0	0	0.000157383	0	0
DIDO1	11083	broad.mit.edu	37	20	61538515	61538515	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:61538515G>A	uc002ydr.2	-	4	1670	c.1358C>T	c.(1357-1359)cCg>cTg	p.P453L	DIDO1_uc002yds.2_Missense_Mutation_p.P453L|DIDO1_uc002ydt.2_Missense_Mutation_p.P453L|DIDO1_uc002ydu.2_Missense_Mutation_p.P453L|DIDO1_uc002ydv.2_Missense_Mutation_p.P453L|DIDO1_uc002ydw.2_Missense_Mutation_p.P453L|DIDO1_uc002ydx.2_Missense_Mutation_p.P453L|DIDO1_uc011aao.1_Missense_Mutation_p.P453L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	453					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P453L(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCGCATTTCGGAAGACTGGG	0.527000														112			41		0	0	0.000589545	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:29625947T>C	uc010ztl.1	+	1	133	c.101T>C	c.(100-102)aTt>aCt	p.I34T	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.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000														72			5		0	0	8.12818e-05	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717555	13717555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:13717555G>A	uc001rbt.2	-	12	2796	c.2617C>T	c.(2617-2619)Cat>Tat	p.H873Y		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	873					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCACCCCATGGATGCAGCTG	0.532000														46			26		0	0	0.000586117	0	0
CRTC1	23373	broad.mit.edu	37	19	18882306	18882306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:18882306C>T	uc010ebv.3	+	11	1511	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	CRTC1_uc002nkb.4_Missense_Mutation_p.P459S|CRTC1_uc010ebw.3_Missense_Mutation_p.P324S	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	459					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S472_P474>R(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CAACCAGTCTCCCACCTCGCC	0.677000														14			9		0	0	0.000978159	0	0
PTGDR	5729	broad.mit.edu	37	14	52734848	52734848	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:52734848C>T	uc001wzq.3	+	0	418	c.316C>T	c.(316-318)Caa>Taa	p.Q106*		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	106						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTCGTTGTGCCAAGCCTTCGC	0.607000														76			35		0	0	0.000228196	0	0
ADCY10	55811	broad.mit.edu	37	1	167791356	167791356	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:167791356C>T	uc001ger.3	-	29	4490	c.4192G>A	c.(4192-4194)Gaa>Aaa	p.E1398K	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.E1245K|ADCY10_uc009wvk.3_Missense_Mutation_p.E1306K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1398					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding	p.E1397Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCAAACATTCTTCAAATGTT	0.403000														28			18		0	0	0.000132079	0	0
TTN	7273	broad.mit.edu	37	2	179588354	179588354	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:179588354C>T	uc021vsy.1	-	70	17966	c.17741G>A	c.(17740-17742)aGc>aAc	p.S5914N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2575N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6841	Ig-like 40.						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)			TCTAATAACGCTTGTGAAGGT	0.418000														21			14		0	0	0.000151284	0	0
LSR	51599	broad.mit.edu	37	19	35753456	35753456	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:35753456C>T	uc002nyl.3	+	4	1006	c.783C>T	c.(781-783)ctC>ctT	p.L261L	LSR_uc010xsr.2_Intron|LSR_uc002nym.3_Silent_p.L242L|LSR_uc002nyn.3_Intron|LSR_uc002nyo.3_Silent_p.L242L|LSR_uc002nyp.3_Silent_p.L224L	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	261					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGACTGGCTCTTCGTGGTTG	0.622000														66			26		0	0	0.000227799	0	0
SEC16A	9919	broad.mit.edu	37	9	139353682	139353682	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:139353682G>A	uc004chx.3	-	16	5622	c.5313C>T	c.(5311-5313)ttC>ttT	p.F1771F	SEC16A_uc004chu.3_5'Flank|SEC16A_uc004chv.4_Silent_p.F1161F|SEC16A_uc004chw.3_Silent_p.F1771F|SEC16A_uc010nbn.3_Silent_p.F1771F	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1593	Pro-rich.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGAACTTTAAGAATGGCAAAC	0.473000														41			26		0	0	0.000878237	0	0
RECQL4	9401	broad.mit.edu	37	8	145740345	145740345	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:145740345G>A	uc003zdj.3	-	8	1637	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	532	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACAGCAGGGGAGAGACGAC	0.632000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					11			7		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9038404	9038404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:9038404G>A	uc002mkp.3	-	6	36319	c.36115C>T	c.(36115-36117)Cgg>Tgg	p.R12039W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12041	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R12039W(1)|p.R7672W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCAGTACCGACGGTTATAA	0.488000														46			28		0	0	0.000339439	0	0
MEP1B	4225	broad.mit.edu	37	18	29790524	29790524	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:29790524T>C	uc002kxj.4	+	9	1027	c.980T>C	c.(979-981)cTg>cCg	p.L327P		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	327	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACAGCAGTGCTGGAAAGTAGA	0.408000														30			15		0	0	0.000422831	0	0
DNAH9	1770	broad.mit.edu	37	17	11593108	11593108	+	Silent	SNP	C	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:11593108C>A	uc002gne.3	+	19	4037	c.3969C>A	c.(3967-3969)ccC>ccA	p.P1323P	DNAH9_uc010coo.3_Silent_p.P617P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1323	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACCACACCCTGGAGGAATA	0.567000														15			9		2.17888e-05	0.000189135	0.000442599	1	0
MYBPC2	4606	broad.mit.edu	37	19	50957534	50957534	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:50957534C>T	uc002psf.2	+	17	1973	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	641	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)		GTCCCAGACCCCCCGGAGGCT	0.647000														7			8		0	0	0.000274275	0	0
PCDH18	54510	broad.mit.edu	37	4	138442609	138442609	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:138442609C>T	uc003ihe.4	-	3	3369	c.2982G>A	c.(2980-2982)gaG>gaA	p.E994E	PCDH18_uc003ihf.4_Silent_p.E986E|PCDH18_uc011cgz.2_Silent_p.E205E|PCDH18_uc003ihg.4_Silent_p.E773E|PCDH18_uc011cha.2_Silent_p.E174E	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	994	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D993N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCCAGTGTCCTCATCGTTTG	0.507000														21			10		0	0	0.000673444	0	0
MAN2A1	4124	broad.mit.edu	37	5	109153015	109153015	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:109153015C>T	uc003kou.1	+	12	2948	c.1985C>T	c.(1984-1986)tCg>tTg	p.S662L		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	662					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACCGAATCTCGTTGGTCTCA	0.413000														18			28		0	0	0.000279167	0	0
PBRM1	55193	broad.mit.edu	37	3	52598133	52598133	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:52598133T>G	uc003des.2	-	22	3820	c.3808A>C	c.(3808-3810)Aaa>Caa	p.K1270Q	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.K1270Q|PBRM1_uc003der.2_Missense_Mutation_p.K1238Q|PBRM1_uc003det.2_Missense_Mutation_p.K1285Q|PBRM1_uc003deu.2_Missense_Mutation_p.K1285Q|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.K1270Q|PBRM1_uc010hmk.1_Missense_Mutation_p.K1245Q|PBRM1_uc003dey.2_Missense_Mutation_p.K1245Q|PBRM1_uc003dez.1_Missense_Mutation_p.K1269Q	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1270	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.K1270fs*5(1)|p.K1269*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTTTGAATTTCTTCATCTGC	0.398000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									35			30		0	0	0.000227799	0	0
DDX60	55601	broad.mit.edu	37	4	169204660	169204660	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:169204660G>A	uc003irp.3	-	12	1951	c.1659C>T	c.(1657-1659)atC>atT	p.I553I		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	553							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GAGTCACGATGATTTTCGAAG	0.348000														33			19		0	0	0.000132079	0	0
RASSF8	11228	broad.mit.edu	37	12	26217895	26217895	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:26217895G>A	uc001rgx.3	+	2	794	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	RASSF8_uc001rgy.3_Missense_Mutation_p.E190K|RASSF8_uc001rgz.3_Missense_Mutation_p.E190K|RASSF8_uc009zjd.2_Missense_Mutation_p.E190K|RASSF8_uc009zje.2_Missense_Mutation_p.E190K	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	190	Glu-rich.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TAATGAAATAGAAATAAGATT	0.373000														39			15		0	0	0.000308642	0	0
NF2	4771	broad.mit.edu	37	22	30069410	30069410	+	Silent	SNP	G	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:30069410G>C	uc003age.4	+	11	1718	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	NF2_uc003afy.4_Silent_p.L425L|NF2_uc003afz.4_Silent_p.L342L|NF2_uc003agf.4_Silent_p.L425L|NF2_uc003agb.4_Silent_p.L348L|NF2_uc003agc.4_Silent_p.L387L|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Silent_p.L425L|NF2_uc003aga.4_Silent_p.L383L|NF2_uc003agh.4_Silent_p.L384L|NF2_uc003agi.4_Silent_p.L342L|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Silent_p.L89L|NF2_uc011akq.2_Silent_p.L51L	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	425	Glu-rich.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.R424C(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGAAGCGCCTGATGGAGCAGA	0.627000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2					15			11		0	0	0.00010058	0	0
FCGBP	8857	broad.mit.edu	37	19	40430374	40430374	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:40430374G>A	uc002omp.4	-	2	1577	c.1569C>T	c.(1567-1569)cgC>cgT	p.R523R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	523	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGAGACGCGGCGGCTGCCCC	0.662000														8			8		0	0	0.000274275	0	0
LGR5	8549	broad.mit.edu	37	12	71977942	71977943	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:71977942_71977943GG>TT	uc001swl.3	+	17	2200_2201	c.2152_2153GG>TT	c.(2152-2154)ggg>TTg	p.G718L	LGR5_uc001swm.3_Missense_Mutation_p.G694L|LGR5_uc021rar.1_Missense_Mutation_p.G646L|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	718						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTGCCTTTTGGGGAGCCCAGC	0.564000														374			10		0	0	6.4e-05	0	0
STRN	6801	broad.mit.edu	37	2	37096793	37096793	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:37096793G>A	uc002rpn.3	-	10	1412	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	STRN_uc010ezx.3_Missense_Mutation_p.A431V	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	468					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GAAAGCAAGGGCTCGGATGCC	0.383000														23			13		0	0	0.000422831	0	0
LCE2D	353141	broad.mit.edu	37	1	152636669	152636669	+	Missense_Mutation	SNP	C	T	T	rs150498841	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:152636669C>T	uc021ozb.1	+	0	88	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	LCE2D_uc001fag.3_Missense_Mutation_p.P30S	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	Homo sapiens late cornified envelope 2D (LCE2D), mRNA.	30	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAGTGTCCCCCCAAATGCCC	0.602000														61			27		0	0	0.000878237	0	0
MMP15	4324	broad.mit.edu	37	16	58073967	58073967	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:58073967C>T	uc002ena.3	+	3	1602	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	210					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GGCGACAGCTCGCCGTTTGAT	0.627000														26			14		0	0	0.000219431	0	0
ODZ4	26011	broad.mit.edu	37	11	78413364	78413364	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:78413364T>C	uc001ozl.4	-	27	4757	c.4294A>G	c.(4294-4296)Atc>Gtc	p.I1432V		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1432					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						TTTTCAGAGATTTGCAGGACC	0.547000														55			29		0	0	0.000227799	0	0
FZD8	8325	broad.mit.edu	37	10	35928632	35928632	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:35928632C>T	uc001iyz.1	-	0	1731	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	576					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CGTGCCTGGTCGGGCTGCAGG	0.682000														13			11		0	0	0.00010058	0	0
PEX11B	8799	broad.mit.edu	37	1	145522896	145522896	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:145522896C>T	uc001eny.2	+	3	993	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	PEX11B_uc010oyu.2_Missense_Mutation_p.P239S|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.3_5'Flank|ITGA10_uc010oyv.2_5'Flank|ITGA10_uc009wiw.3_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	253	Interaction with PEX19 and peroxisome targeting.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTAATCTATCCCTGGCTACG	0.552000														44			25		0	0	0.000878237	0	0
abParts	0	broad.mit.edu	37	22	23261717	23261717	+	RNA	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:23261717G>A	uc021wml.1	+	443		c.18144G>A								Parts of antibodies, mostly variable regions.																		GTCAGCCCAAGGCTGCCCCCT	0.632000														14			8		0	0	0.000157383	0	0
SELV	348303	broad.mit.edu	37	19	40009764	40009764	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:40009764C>T	uc021uum.1	+	4	1117	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_182704		P59797	SELV_HUMAN	Homo sapiens selenoprotein V (SELV), mRNA.	339					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAGCGTTATCGATGAGGAAA	0.602000														25			12		0	0	0.000978159	0	0
CSMD3	114788	broad.mit.edu	37	8	113318319	113318319	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:113318319C>T	uc003ynu.3	-	50	8147	c.7988G>A	c.(7987-7989)cGa>cAa	p.R2663Q	CSMD3_uc003yns.3_Missense_Mutation_p.R1865Q|CSMD3_uc003ynt.3_Missense_Mutation_p.R2623Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R2559Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2663	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATGACAATCGATATCCATC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				58			23		0	0	0.000295444	0	0
NOVA1	4857	broad.mit.edu	37	14	26917991	26917991	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:26917991G>A	uc001wqa.3	-	5	1118	c.332C>T	c.(331-333)gCt>gTt	p.A111V	NOVA1_uc001wpy.3_Missense_Mutation_p.A233V|NOVA1_uc001wpz.3_Missense_Mutation_p.A209V	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	236	KH 1.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAGTTCAACAGCTTTTCGGTT	0.468000														58			28		0	0	0.000878237	0	0
IL1R1	3554	broad.mit.edu	37	2	102789291	102789291	+	Silent	SNP	A	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:102789291A>T	uc002tbq.3	+	8	1302	c.984A>T	c.(982-984)atA>atT	p.I328I	IL1R1_uc010fix.3_Silent_p.I328I|IL1R1_uc002tbr.3_Silent_p.I328I	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	328	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCCAGTTAATATATCCAGGTA	0.313000														41			15		0	0	0.000308642	0	0
MORC1	27136	broad.mit.edu	37	3	108725917	108725917	+	Missense_Mutation	SNP	C	T	T	rs138435095		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:108725917C>T	uc003dxl.3	-	17	1813	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MORC1_uc011bhn.2_Intron	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	576					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E576K(4)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGTGATTTCGTCCACTGGT	0.363000														35			15		0	0	0.000308642	0	0
TECTA	7007	broad.mit.edu	37	11	121028933	121028933	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:121028933G>A	uc010rzo.2	+	13	4689	c.4689_splice	c.e13+1	p.K1563_splice		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1563	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACACGGTCAAGGTAACCAGCC	0.532000														27			21		0	0	0.000175454	0	0
PIGQ	9091	broad.mit.edu	37	16	630930	630930	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:630930T>G	uc002cho.3	+	8	1627	c.1489T>G	c.(1489-1491)Tac>Gac	p.Y497D	PIGQ_uc010bqw.3_Missense_Mutation_p.Y497D|PIGQ_uc002chn.3_Missense_Mutation_p.Y497D|PIGQ_uc010uui.2_Missense_Mutation_p.Y511D|PIGQ_uc002chp.3_5'Flank	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	497	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCTGCCGCTGTACTCACTGGG	0.647000														72			28		0	0	0.000491102	0	0
TMC5	79838	broad.mit.edu	37	16	19451378	19451378	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:19451378G>A	uc002dgc.4	+	2	767	c.18G>A	c.(16-18)agG>agA	p.R6R	TMC5_uc010vaq.2_Silent_p.R6R|TMC5_uc002dgb.4_Silent_p.R6R|TMC5_uc010var.2_Silent_p.R6R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	6						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTACTACAGGAATAACTGGT	0.448000														45			18		0	0	0.000958276	0	0
FGF3	2248	broad.mit.edu	37	11	69631106	69631106	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:69631106C>T	uc001oph.3	-	1	797	c.306G>A	c.(304-306)agG>agA	p.R102R		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	102					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGAGTCGTCCCCTCTTGTTCA	0.592000														42			20		0	0	0.000295444	0	0
C15orf42	90381	broad.mit.edu	37	15	90135386	90135386	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:90135386C>T	uc002boe.3	+	4	1520	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	C15orf42_uc021sug.1_Missense_Mutation_p.S506F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	507					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGTGCCAGTTCCGATTTGATG	0.423000														40			17		0	0	0.000375601	0	0
MTIF2	4528	broad.mit.edu	37	2	55490859	55490859	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:55490859C>T	uc002ryn.3	-	4	873	c.136G>A	c.(136-138)Gct>Act	p.A46T	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Missense_Mutation_p.A46T|MTIF2_uc002ryp.1_Non-coding_Transcript	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	46					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CACAGTTGAGCTGTCCACACA	0.453000														50			34		0	0	0.00058488	0	0
EYA1	2138	broad.mit.edu	37	8	72184013	72184013	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:72184013G>A	uc003xyu.3	-	9	1586	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	EYA1_uc003xyt.4_Missense_Mutation_p.P283S|EYA1_uc003xyr.4_Missense_Mutation_p.P311S|EYA1_uc010lzf.3_Missense_Mutation_p.P243S|EYA1_uc003xys.4_Missense_Mutation_p.P316S|EYA1_uc011lfe.2_Missense_Mutation_p.P310S|EYA1_uc003xyv.3_Missense_Mutation_p.P194S	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	316					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATCTGGGGGAGGTGAAGGA	0.453000														64			25		0	0	0.000184323	0	0
CGN	57530	broad.mit.edu	37	1	151509821	151509821	+	Nonstop_Mutation	SNP	A	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:151509821A>T	uc009wmw.3	+	20	3755	c.3611A>T	c.(3610-3612)tAg>tTg	p.*1204L	TUFT1_uc001eyl.3_5'Flank|TUFT1_uc001eym.3_5'Flank|TUFT1_uc010pdf.2_5'Flank|TUFT1_uc010pdg.2_5'Flank|CGN_uc010pde.2_Nonstop_Mutation_p.*198L	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	0						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCCTGTTAGCTCGTGGTC	0.557000														27			10		0	0	0.000219431	0	0
DNM3	26052	broad.mit.edu	37	1	172100315	172100315	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:172100315G>A	uc001gie.3	+	14	1722	c.1546_splice	c.e14-1	p.V516_splice	DNM3_uc001gid.4_Splice_Site_p.V516_splice|DNM3_uc009wwb.2_Splice_Site_p.V516_splice|DNM3_uc001gif.3_Splice_Site_p.V516_splice	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	526	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTTTCGTAGGTGATTCGCAA	0.438000														21			11		0	0	0.000978159	0	0
C7orf10	79783	broad.mit.edu	37	7	40234577	40234577	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:40234577C>T	uc022acd.1	+	5	447	c.423C>T	c.(421-423)gtC>gtT	p.V141V	C7orf10_uc003thn.2_Silent_p.V141V|C7orf10_uc003tho.2_Silent_p.V141V	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	141							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AAAACTATGTCCCTGGCAAAC	0.443000														71			34		0	0	0.00058488	0	0
ABCG5	64240	broad.mit.edu	37	2	44065037	44065037	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:44065037C>T	uc002rtn.3	-	1	341	c.201G>A	c.(199-201)caG>caA	p.Q67Q	ABCG5_uc002rto.3_5'UTR|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	67	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.Q67E(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTTGAGGATCTGCCTGGTCC	0.552000														206			81		0	0	0.000781405	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733464	56733464	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:56733464G>A	uc002qmq.3	-	4	1137	c.971C>T	c.(970-972)tCc>tTc	p.S324F	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.S207F|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.S324F|ZSCAN5A_uc002qms.1_Missense_Mutation_p.S323F	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	324					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGTCCCGGGGATTCTCTGTT	0.562000														48			19		0	0	0.000958276	0	0
FCGBP	8857	broad.mit.edu	37	19	40411838	40411838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:40411838C>T	uc002omp.4	-	6	3798	c.3790G>A	c.(3790-3792)Gat>Aat	p.D1264N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1264	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGCGGCCATCGAAGGTGGTG	0.667000														17			15		0	0	0.000566183	0	0
PRDM13	59336	broad.mit.edu	37	6	100057097	100057097	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:100057097G>A	uc003pqg.1	+	2	572	c.311G>A	c.(310-312)gGg>gAg	p.G104E		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	104	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTCCAGCCAGGGGAGGAGCTG	0.512000														13			6		0	0	8.12818e-05	0	0
NOTCH1	4851	broad.mit.edu	37	9	139417600	139417600	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:139417600G>A	uc004chz.3	-	3	444	c.444C>T	c.(442-444)ccC>ccT	p.P148P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	148	EGF-like 4.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTTGGCGCAGGGGTTGGAGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				6			3		0	0	0.00024832	0	0
EXPH5	23086	broad.mit.edu	37	11	108409805	108409805	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:108409805G>A	uc001pkk.3	-	2	500	c.389C>T	c.(388-390)tCa>tTa	p.S130L	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	130					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTCCTGAATGAGAACAGGGA	0.408000														95			40		0	0	0.000319135	0	0
APBB3	10307	broad.mit.edu	37	5	139941689	139941690	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:139941689_139941690CC>TT	uc021yeh.1	-	5	980_981	c.621_622GG>AA	c.(619-624)aagggc>aaAAgc	p.G208S	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lgd.1_Missense_Mutation_p.G208S|APBB3_uc010jfp.1_Intron|APBB3_uc011czi.1_5'UTR|APBB3_uc003lge.1_Missense_Mutation_p.G208S|APBB3_uc021yeg.1_Missense_Mutation_p.G208S|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	208	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACCGGCCCTTGGAGCTCC	0.599000														15			10		0	0	6.4e-05	0	0
GSDMC	56169	broad.mit.edu	37	8	130789704	130789704	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:130789704C>T	uc003ysr.3	-	1	1012	c.130G>A	c.(130-132)Gat>Aat	p.D44N		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	44						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAACGAGAATCCTTCTTCTTT	0.398000														45			23		0	0	0.00047179	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098794	78098794	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:78098794G>A	uc001dhq.3	-	4	722	c.246C>T	c.(244-246)agC>agT	p.S82S	ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Silent_p.S82S|ZZZ3_uc001dhp.3_Silent_p.S82S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTTTCCTAGGGCTTACCCATG	0.413000														113			62		0	0	0.000781405	0	0
OR6F1	343169	broad.mit.edu	37	1	247875625	247875625	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:247875625C>T	uc001idj.1	-	0	433	c.433G>A	c.(433-435)Gcc>Acc	p.A145T		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAGCCCAGGGCCAGCTGCGCT	0.587000														40			7		0	0	0.000157383	0	0
ALPK1	80216	broad.mit.edu	37	4	113353727	113353728	+	Silent	DNP	CC	TA	TA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:113353727_113353728CC>TA	uc003ian.4	+	10	3251_3252	c.3024_3025CC>TA	c.(3022-3027)caccga>caTAga	p.1008_1009HR>HR	ALPK1_uc003iap.4_Silent_p.1008_1009HR>HR|ALPK1_uc011cfx.2_Silent_p.930_931HR>HR|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Silent_p.836_837HR>HR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1008			H -> P (in dbSNP:rs34079946).				ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GTCAACTCCACCGAGCACATAG	0.465000														77			20		0	0	6.4e-05	0	0
SH3BGR	6450	broad.mit.edu	37	21	40824035	40824035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr21:40824035G>A	uc002yya.3	+	0	256	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	SH3BGR_uc002yxz.3_Intron	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	68					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GGTTATCAAAGTGTTTGTTGC	0.478000														94			43		0	0	0.000781405	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611214	62611214	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:62611214C>T	uc003peg.2	-	4	793	c.546G>A	c.(544-546)gaG>gaA	p.E182E		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GACCAGAGTCCTCTGAGCCAT	0.393000														39			15		0	0	0.000308642	0	0
SP140	11262	broad.mit.edu	37	2	231113639	231113639	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:231113639G>A	uc002vql.3	+	8	1047	c.932G>A	c.(931-933)gGa>gAa	p.G311E	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.G311E|SP140_uc002vqn.3_Missense_Mutation_p.G258E|SP140_uc002vqm.3_Missense_Mutation_p.G285E|SP140_uc010fxl.3_Missense_Mutation_p.G311E	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	311					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)		ACTAATGAAGGAGAACCAGAG	0.408000														23			17		0	0	0.000958276	0	0
TECTA	7007	broad.mit.edu	37	11	121016362	121016362	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:121016362C>T	uc010rzo.2	+	10	3642	c.3642C>T	c.(3640-3642)ggC>ggT	p.G1214G		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1214	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGATTTTGGCCTGAAGGTTG	0.517000														52			24		0	0	0.000375601	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692583	153692583	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:153692583C>T	uc004flm.3	+	7	1928	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	585					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGAGGCGGTCCTGCTGCCCT	0.687000														3			3		0	0	0.00024832	0	0
PTEN	5728	broad.mit.edu	37	10	89720741	89720741	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:89720741C>T	uc001kfb.3	+	7	1924	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	298	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Q298*(10)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Q298fs*9(2)|p.W274_F341del(2)|p.G165_*404del(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTATGTGATCAAGAAATCGA	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				17			18		0	0	0.00074312	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909034	24909034	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:24909034C>T	uc001isb.2	-	8	2277	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.R597K|ARHGAP21_uc010qdc.1_Missense_Mutation_p.R432K|ARHGAP21_uc001isc.1_Missense_Mutation_p.R587K	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	596					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGAAAATTTCTGTTTGACTG	0.418000														24			30		0	0	0.000227799	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840469	128840469	+	Missense_Mutation	SNP	G	A	A	rs142674734		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:128840469G>A	uc009zcp.3	-	21	4597	c.4597C>T	c.(4597-4599)Cgt>Tgt	p.R1533C	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.R492C|ARHGAP32_uc001qez.3_Missense_Mutation_p.R1184C	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1533	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.R1184C(1)|p.R1533C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGTTATAACGAAGACCCATG	0.542000														24			11		0	0	0.000978159	0	0
MEI1	150365	broad.mit.edu	37	22	42172262	42172262	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:42172262C>T	uc003baz.1	+	20	2726	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.P287S|MEI1_uc003bbc.1_Missense_Mutation_p.P269S|MEI1_uc010gym.1_Missense_Mutation_p.P269S|MEI1_uc003bbd.1_Missense_Mutation_p.P144S|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	901							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGGGCATCCCCATCAGGAGG	0.567000														19			9		0	0	0.000274275	0	0
TCRA	0	broad.mit.edu	37	14	22539370	22539370	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:22539370G>A	uc001wcy.3	+	1	277	c.266G>A	c.(265-267)gGa>gAa	p.G89E	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_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		AAACAGAATGGAAGATTAAGC	0.453000														29			10		0	0	0.000673444	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219204	44219205	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:44219204_44219205CC>TT	uc003oxa.1	+	7	1257_1258	c.1173_1174CC>TT	c.(1171-1176)tcccga>tcTTga	p.R392*	HSP90AB1_uc011dvr.1_Nonsense_Mutation_p.R382*|HSP90AB1_uc003oxb.1_Nonsense_Mutation_p.R392*|HSP90AB1_uc011dvs.1_Nonsense_Mutation_p.R212*|HSP90AB1_uc003oxc.1_Nonsense_Mutation_p.R30*	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	392					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGAACATCTCCCGAGAAATGCT	0.465000														17			9		0	0	6.4e-05	0	0
FAM47A	158724	broad.mit.edu	37	X	34149184	34149184	+	Silent	SNP	G	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:34149184G>T	uc004ddg.3	-	0	1264	c.1212C>A	c.(1210-1212)ccC>ccA	p.P404P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	404										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCCAGTCTTGGGAGGCACTG	0.582000														10			16		1.96292e-10	1.71218e-09	0.000175454	1	0
QPRT	23475	broad.mit.edu	37	16	29706008	29706008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:29706008G>A	uc002dto.3	+	1	115	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Intron	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	13					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCTGCCGCCCGTCACCCTGGC	0.642000														19			5		0	0	0.000602214	0	0
PDE4A	5141	broad.mit.edu	37	19	10574567	10574567	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:10574567C>T	uc002moj.2	+	13	1950	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	PDE4A_uc021uow.1_Silent_p.F592F|PDE4A_uc002mok.2_Silent_p.F588F|PDE4A_uc002mol.2_Silent_p.F553F|PDE4A_uc002mom.2_Silent_p.F375F|PDE4A_uc002moo.2_Silent_p.F280F	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	614	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	p.H613H(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCGAGTTCTTCCAGCAGGGTG	0.622000														25			22		0	0	0.000229342	0	0
SYDE2	84144	broad.mit.edu	37	1	85624749	85624749	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:85624749C>T	uc009wcm.3	-	6	3318	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	1090					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GCTCCAGTCTCCTGCATAACG	0.383000														108			58		0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34006261	34006261	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:34006261C>T	uc001bxm.1	-	59	9672	c.9495G>A	c.(9493-9495)ggG>ggA	p.G3165G	CSMD2_uc001bxn.1_Silent_p.G3021G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3139	Sushi 25.					integral to membrane|plasma membrane	protein binding	p.G3021G(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACCACCTTCCCATTGGGGA	0.602000														26			12		0	0	0.000219431	0	0
RANBP6	26953	broad.mit.edu	37	9	6013112	6013112	+	Silent	SNP	A	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:6013112A>G	uc003zjr.3	-	0	2529	c.2496T>C	c.(2494-2496)gtT>gtC	p.V832V	RANBP6_uc011lmf.2_Silent_p.V480V|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	832					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GAGACATCTCAACCTGTTGAT	0.343000														35			46		0	0	0.000589545	0	0
CELF4	56853	broad.mit.edu	37	18	34854416	34854416	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:34854416C>T	uc002lae.2	-	6	1054	c.658_splice	c.e6-1	p.G220_splice	CELF4_uc021uix.1_Splice_Site_p.G219_splice|CELF4_uc021uiy.1_Splice_Site_p.G220_splice|CELF4_uc002lag.2_Splice_Site_p.G210_splice|CELF4_uc002laf.2_Splice_Site_p.G215_splice|CELF4_uc002lai.2_Splice_Site_p.G205_splice|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Silent_p.G55G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	220	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGACGAGGCTCCCTGCGGCCG	0.711000														49			21		0	0	0.000295444	0	0
STAT3	6774	broad.mit.edu	37	17	40498617	40498618	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:40498617_40498618GT>AA	uc002hzl.1	-	2	482_483	c.242_243AC>TT	c.(241-243)cac>cTT	p.H81L	STAT3_uc002hzk.1_Missense_Mutation_p.H81L|STAT3_uc002hzm.1_Missense_Mutation_p.H81L|STAT3_uc010wgh.1_5'UTR|STAT3_uc002hzn.1_Missense_Mutation_p.H81L	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	81					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTCGTAGATTGTGCTGATAGAG	0.455000									Hyperimmunoglobulin E Recurrent Infection Syndrome					147			70		0	0	6.4e-05	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119694	38119694	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:38119694C>T	uc003atr.3	+	6	1402	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	TRIOBP_uc003atu.3_Silent_p.N205N|TRIOBP_uc003atq.1_Silent_p.N377N|TRIOBP_uc003ats.1_Silent_p.N205N	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	377					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCGGGAAAACCCCAGGACAC	0.562000														58			23		0	0	0.00047179	0	0
PRPS1	5631	broad.mit.edu	37	X	106884133	106884133	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:106884133G>A	uc004ene.4	+	3	512	c.307_splice	c.e3-1	p.S103_splice	PRPS1_uc011msj.2_Intron|PRPS1_uc010npg.3_Intron	NM_002764	NP_002755	P60891	PRPS1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA.	103					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCCATTTAGAGCCGGGCGCCA	0.378000														32			54		0	0	0.000781405	0	0
FARP2	9855	broad.mit.edu	37	2	242402844	242402844	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:242402844G>A	uc002wbi.2	+	15	1936	c.1772G>A	c.(1771-1773)aGa>aAa	p.R591K	FARP2_uc010zoq.2_Missense_Mutation_p.R591K|FARP2_uc010zor.2_Missense_Mutation_p.R591K	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	591	DH.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GAGTTCCACAGAGGCTTCCTG	0.592000														9			11		0	0	0.000673444	0	0
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:34149264C>T	uc004ddg.3	-	0	1184	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	378								p.E378*(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637000														14			17		0	0	0.000132079	0	0
LRCH3	84859	broad.mit.edu	37	3	197518308	197518308	+	Silent	SNP	G	A	A	rs139995375		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:197518308G>A	uc011bul.1	+	0	164	c.159G>A	c.(157-159)ctG>ctA	p.L53L	LRCH3_uc003fyj.1_Silent_p.L53L|LRCH3_uc011bum.1_Silent_p.L53L|LRCH3_uc011bun.1_Silent_p.L53L	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	53						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ATCGAGCCCTGGAGGAGGCGG	0.701000														4			3		0	0	6.4e-05	0	0
PKD1	5310	broad.mit.edu	37	16	2140588	2140588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:2140588C>T	uc002cos.1	-	44	12351	c.12142G>A	c.(12142-12144)Gtg>Atg	p.V4048M	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.V4047M|MIR1225_uc021tap.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	4048					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGAAGACACGAGCTGCGGG	0.662000														4			5		0	0	0.000602214	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577479	14577479	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:14577479C>T	uc001rbw.3	+	1	788	c.630C>T	c.(628-630)atC>atT	p.I210I	ATF7IP_uc010shs.1_Silent_p.I210I|ATF7IP_uc001rbu.3_Silent_p.I210I|ATF7IP_uc001rbv.1_Silent_p.I210I|ATF7IP_uc001rbx.3_Silent_p.I210I|ATF7IP_uc010sht.1_Silent_p.I210I|ATF7IP_uc001rby.4_Silent_p.I210I|ATF7IP_uc001rbz.1_Silent_p.I210I|ATF7IP_uc001rca.3_Silent_p.I210I|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	210					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTGATCCCATCCCAGGTGAAC	0.527000														79			27		0	0	0.000184323	0	0
PTH1R	5745	broad.mit.edu	37	3	46939630	46939630	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:46939630G>A	uc003cqm.3	+	6	694	c.491G>A	c.(490-492)tGg>tAg	p.W164*	PTH1R_uc021wxg.1_Nonsense_Mutation_p.W164*	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	164						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						AACAGGACGTGGGCCAACTAC	0.597000														64			25		0	0	0.000184323	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071419	41071419	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:41071419G>A	uc002ony.3	+	27	6092	c.6006G>A	c.(6004-6006)caG>caA	p.Q2002Q	SPTBN4_uc002onz.3_Silent_p.Q2002Q|SPTBN4_uc010egx.3_Silent_p.Q745Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2002					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACCTGCCAGGAGCTGGGGC	0.642000														11			4		0	0	0.00024832	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513686	50513686	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:50513686G>T	uc003tpd.3	-	3	1670	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T	FIGNL1_uc003tpb.3_Missense_Mutation_p.P323T|FIGNL1_uc003tpc.3_Missense_Mutation_p.P434T|FIGNL1_uc003tpe.3_Missense_Mutation_p.P434T|FIGNL1_uc010kyy.3_Missense_Mutation_p.P434T|FIGNL1_uc022ada.1_Missense_Mutation_p.P434T	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	434					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.P434T(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ATTCCTTTAGGGGGTCCCCTT	0.453000														40			26		4.72057e-08	4.10759e-07	0.000586117	1	0
PPP5C	5536	broad.mit.edu	37	19	46891948	46891949	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:46891948_46891949GG>AA	uc002pem.3	+	10	1418_1419	c.1315_1316GG>AA	c.(1315-1317)gga>AAa	p.G439K	PPP5C_uc002pen.3_Missense_Mutation_p.G417K|PPP5C_uc010xya.2_Missense_Mutation_p.G306K	NM_006247	NP_006238	P53041	PPP5_HUMAN	Homo sapiens protein phosphatase 5, catalytic subunit (PPP5C), transcript variant 1, mRNA.	439	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GGTGGCTCACGGAGGCCGCTGT	0.564000														53			20		0	0	6.4e-05	0	0
NTRK1	4914	broad.mit.edu	37	1	156837972	156837972	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:156837972G>A	uc001fqh.1	+	4	561	c.505G>A	c.(505-507)Gga>Aga	p.G169R	NTRK1_uc001fqf.1_Missense_Mutation_p.G139R|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.G169R|NTRK1_uc009wsk.1_Missense_Mutation_p.G169R	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	169	LRRCT.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGACTGGGCGGAGTGCCTGA	0.657000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				33			18		0	0	0.00074312	0	0
RSPH6A	81492	broad.mit.edu	37	19	46313980	46313980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:46313980C>T	uc002pdm.3	-	1	940	c.769G>A	c.(769-771)Gac>Aac	p.D257N	RSPH6A_uc002pdl.3_5'UTR	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	257						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGCAGCGTGTCCAGCTTGGGG	0.622000														36			12		0	0	0.000219431	0	0
CPAMD8	27151	broad.mit.edu	37	19	17025599	17025599	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:17025599G>A	uc002nfb.3	-	27	3827	c.3795C>T	c.(3793-3795)tcC>tcT	p.S1265S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1218						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGTGCGAAGGACTTCAGGA	0.607000														14			6		0	0	8.12818e-05	0	0
C14orf2	9556	broad.mit.edu	37	14	104381447	104381447	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:104381447C>T	uc010aww.2	-	1	177	c.80G>A	c.(79-81)gGa>gAa	p.G27E	C14orf2_uc001yoj.4_Missense_Mutation_p.G44E|C14orf2_uc001yoi.4_Missense_Mutation_p.G27E|C14orf2_uc001yok.3_Missense_Mutation_p.G27E			P56378	68MP_HUMAN	Homo sapiens chromosome 14 open reading frame 2 (C14orf2), transcript variant 1, mRNA.	27						mitochondrion				kidney(1)	1				Epithelial(152;0.223)		CAGCCCCATTCCTATCCAAAT	0.373000														20			15		0	0	0.000219431	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598182	46598182	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:46598182G>A	uc009zkj.1	-	10	1409	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC38A1_uc001rpb.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpc.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpd.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpe.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc010slh.2_Nonsense_Mutation_p.Q215*|SLC38A1_uc001rpa.3_Nonsense_Mutation_p.Q242*	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	242					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)			CAGGGAATTTGAAATTTCTTG	0.323000														66			36		0	0	0.000814825	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419995	19419995	+	RNA	SNP	C	G	G	rs78291036	by1000genomes	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:19419995C>G	uc010tcj.1	-	0		c.26115G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GAACTAAGAACAGTTAGATAA	0.294000														67			13		0	0	0.000422831	0	0
STAG3	10734	broad.mit.edu	37	7	99780373	99780374	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:99780373_99780374CG>AT	uc003utx.1	+	3	402_403	c.247_248CG>AT	c.(247-249)cga>ATa	p.R83I	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.R83I	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	83					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.R83Q(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAAGGGTCCCGAGTGGTACAT	0.406000														277			9		0	0	6.4e-05	0	0
RP1	6101	broad.mit.edu	37	8	55542087	55542087	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:55542087C>T	uc003xsd.1	+	3	5793	c.5645C>T	c.(5644-5646)tCt>tTt	p.S1882F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1882					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)			TACCCTGTCTCTGATGATGCT	0.403000														29			13		0	0	0.000151284	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603401	140603401	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:140603401G>A	uc003ljb.3	+	0	324	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	108	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTCAGGTGGTTTTGGAAA	0.428000														42			37		0	0	0.000953801	0	0
FZD8	8325	broad.mit.edu	37	10	35928630	35928630	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:35928630G>T	uc001iyz.1	-	0	1733	c.1728C>A	c.(1726-1728)gaC>gaA	p.D576E		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	576					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGTGCCTGGTCGGGCTGCA	0.682000														14			11		1.61879e-10	1.41546e-09	0.00010058	1	0
OR5T1	390155	broad.mit.edu	37	11	56043805	56043805	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:56043805G>A	uc001nio.1	+	0	691	c.691G>A	c.(691-693)Ggt>Agt	p.G231S		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GATCTCCTATGGTTTTATTCT	0.418000														92			39		0	0	0.00111076	0	0
OR8I2	120586	broad.mit.edu	37	11	55861032	55861032	+	Silent	SNP	G	A	A	rs145057566	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:55861032G>A	uc010rix.2	+	0	249	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGGCATTGGTGAATTTCCAAT	0.393000														84			41		0	0	0.000509022	0	0
DCLK2	166614	broad.mit.edu	37	4	151023695	151023695	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:151023695C>T	uc003ilo.4	+	1	1241	c.487C>T	c.(487-489)Cca>Tca	p.P163S	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.P163S|DCLK2_uc003iln.4_Missense_Mutation_p.P163S	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	163					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAATATTAATCCAAACTGGTC	0.388000														27			14		0	0	0.000308642	0	0
LPA	4018	broad.mit.edu	37	6	160968932	160968932	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:160968932C>T	uc003qtl.3	-	32	5313	c.5193G>A	c.(5191-5193)aaG>aaA	p.K1731K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4239	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTTGCCTTCTTGCCCCGGT	0.493000														55			16		0	0	0.000958276	0	0
CHIT1	1118	broad.mit.edu	37	1	203188415	203188415	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:203188415G>A	uc001gzn.2	-	8	1054	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Nonsense_Mutation_p.Q111*|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Nonsense_Mutation_p.Q311*	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	320					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGCACCTTCTGATCCTGGATT	0.597000														72			36		0	0	0.000228196	0	0
DCHS2	54798	broad.mit.edu	37	4	155219053	155219053	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:155219053G>A	uc003inw.2	-	17	5048	c.5048C>T	c.(5047-5049)tCc>tTc	p.S1683F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1683	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGCTGAAGGAAATCTTTAC	0.448000														26			17		0	0	0.000566183	0	0
YJEFN3	374887	broad.mit.edu	37	19	19640257	19640257	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:19640257G>A	uc002nmt.2	+	1	216	c.144G>A	c.(142-144)agG>agA	p.R48R	YJEFN3_uc021uqv.1_Silent_p.R170R|YJEFN3_uc021uqw.1_Intron|YJEFN3_uc010ecf.2_Intron|YJEFN3_uc002nmu.2_Intron	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	48										NS(1)|breast(1)|lung(3)	5						TCCAGAGGAGGAAACAGGCCT	0.587000														17			10		0	0	0.000673444	0	0
DNAH3	55567	broad.mit.edu	37	16	21147682	21147682	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:21147682C>T	uc010vbe.2	-	5	849	c.849G>A	c.(847-849)aaG>aaA	p.K283K	DNAH3_uc002die.2_Silent_p.K254K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	283	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTCATTCTCCTTCTCCTGCA	0.507000														58			26		0	0	0.000184323	0	0
ASUN	55726	broad.mit.edu	37	12	27066502	27066503	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:27066502_27066503GG>TT	uc001rhk.4	-	13	2229_2230	c.1692_1693CC>AA	c.(1690-1695)ccccca>ccAAca	p.P565T	ASUN_uc001rhj.4_Missense_Mutation_p.P133T|ASUN_uc010sjk.2_Missense_Mutation_p.P464T	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	565					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TCCTCTTCTGGGGGTTTGCTCC	0.431000														247			8		0	0	6.4e-05	0	0
GPR98	84059	broad.mit.edu	37	5	90050855	90050855	+	Silent	SNP	T	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:90050855T>C	uc003kju.3	+	54	11529	c.11433T>C	c.(11431-11433)gaT>gaC	p.D3811D	GPR98_uc003kjt.3_Silent_p.D1517D|GPR98_uc003kjv.3_Silent_p.D1411D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3811					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTTGGGGATATTGCCATTC	0.363000														44			40		0	0	0.000509022	0	0
GRHL3	57822	broad.mit.edu	37	1	24668748	24668748	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:24668748G>A	uc021oiw.1	+	8	1421	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	GRHL3_uc001bix.3_Silent_p.K397K|GRHL3_uc021oix.1_Silent_p.K351K|GRHL3_uc001biy.3_Silent_p.K402K|GRHL3_uc001biz.3_Silent_p.K304K	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	397					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GCCAGATCAAGATCTTCTGTG	0.587000														38			17		0	0	0.000566183	0	0
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:29628282G>A	uc010ztl.1	+	2	226	c.194G>A	c.(193-195)gGg>gAg	p.G65E	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.G17E					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000														41			4		0	0	3.59834e-05	0	0
ENPP4	22875	broad.mit.edu	37	6	46107385	46107385	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:46107385C>T	uc003oxy.3	+	1	324	c.65C>T	c.(64-66)tCt>tTt	p.S22F		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	22						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GACTCTTCCTCTAGTTTGCCA	0.353000														62			42		0	0	0.000781405	0	0
ZNF415	55786	broad.mit.edu	37	19	53612853	53612853	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:53612853C>T	uc002qax.3	-	6	938	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	ZNF415_uc010yds.2_Missense_Mutation_p.E149K|ZNF415_uc010ydt.2_Missense_Mutation_p.E149K|ZNF415_uc002qau.3_Missense_Mutation_p.E136K|ZNF415_uc002qav.3_Missense_Mutation_p.E161K|ZNF415_uc002qaw.3_Missense_Mutation_p.E149K|ZNF415_uc002qay.3_Missense_Mutation_p.E136K|ZNF415_uc002qaz.3_Missense_Mutation_p.E197K|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGCTGCAGTTCATGGGGATGT	0.398000														50			23		0	0	0.000375601	0	0
ANKMY1	51281	broad.mit.edu	37	2	241448822	241448822	+	Silent	SNP	G	A	A	rs140218422		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:241448822G>A	uc010fzd.1	-	11	2462	c.2337C>T	c.(2335-2337)aaC>aaT	p.N779N	ANKMY1_uc002vzb.1_Silent_p.N451N|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Silent_p.N690N|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	690							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCCACAGCAGGTTAGGATTTG	0.567000														6			3		0	0	0.000602214	0	0
SRPX	8406	broad.mit.edu	37	X	38037563	38037563	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:38037563G>A	uc004ddy.2	-	1	264	c.132C>T	c.(130-132)gtC>gtT	p.V44V	SRPX_uc011mki.2_Silent_p.V44V|SRPX_uc004ddz.2_Intron|SRPX_uc011mkh.2_Silent_p.V44V	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	44					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTGAATACCCGACTTCATCGT	0.428000														6			15		0	0	0.000422831	0	0
DNAH5	1767	broad.mit.edu	37	5	13864514	13864514	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:13864514C>T	uc003jfd.2	-	27	4630	c.4588G>A	c.(4588-4590)Gaa>Aaa	p.E1530K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1530	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTCTATTTCCTCTTTATAT	0.383000									Kartagener syndrome					53			18		0	0	0.00074312	0	0
ABCB4	5244	broad.mit.edu	37	7	87041281	87041281	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:87041281G>A	uc003uiv.1	-	22	2928	c.2852C>T	c.(2851-2853)tCc>tTc	p.S951F	ABCB4_uc003uiw.1_Missense_Mutation_p.S951F|ABCB4_uc003uix.1_Intron	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	951	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACCGGCATAGGAAAAATACAT	0.343000														21			13		0	0	0.000151284	0	0
DNAAF3	352909	broad.mit.edu	37	19	55676788	55676788	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:55676788A>C	uc002qjl.1	-	3	478	c.476T>G	c.(475-477)aTg>aGg	p.M159R	DNAAF3_uc002qji.1_Missense_Mutation_p.M91R|DNAAF3_uc002qjj.1_Missense_Mutation_p.M138R|DNAAF3_uc002qjk.1_Missense_Mutation_p.M37R	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	91																	GAAGATCAGCATGTGTCGGGC	0.557000														31			13		0	0	0.000219431	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713843	70713843	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:70713843C>T	uc010ttg.2	-	0	676	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CGTGCTACTTCCTTCTCTGTT	0.453000														40			13		0	0	0.000151284	0	0
TMC7	79905	broad.mit.edu	37	16	19056266	19056266	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:19056266C>T	uc002dfp.2	+	9	1528	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	TMC7_uc010vao.1_3'UTR|TMC7_uc002dfq.3_Silent_p.I466I|TMC7_uc010vap.2_Silent_p.I356I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	466						integral to membrane		p.K465N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCTCCAAGATCACATCCTGTG	0.582000														61			26		0	0	0.00106085	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462266	5462266	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:5462266C>T	uc003jdm.4	+	12	3041	c.2819C>T	c.(2818-2820)cCa>cTa	p.P940L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	940										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTAATTCTCCAGGTGGTTCT	0.383000														27			10		0	0	0.000978159	0	0
STXBP4	252983	broad.mit.edu	37	17	53237190	53237190	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:53237190C>T	uc002iuf.1	+	17	1787	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L	STXBP4_uc010dcd.1_Missense_Mutation_p.P505L	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	527	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGGATCCATCCCGTGATGAGT	0.428000														36			14		0	0	0.000219431	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432817	40432817	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:40432817C>T	uc001cev.3	+	8	1207	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	MFSD2A_uc010ojb.1_Silent_p.F290F|MFSD2A_uc001ceu.3_Silent_p.F329F|MFSD2A_uc010ojc.2_Silent_p.F173F|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	342					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCAATGAATTCCAGAATCTAC	0.547000														39			16		0	0	0.00074312	0	0
ABCG4	64137	broad.mit.edu	37	11	119024766	119024766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:119024766G>A	uc001pvs.3	+	2	605	c.269G>A	c.(268-270)gGt>gAt	p.G90D	ABCG4_uc009zar.3_Missense_Mutation_p.G90D|ABCG4_uc001pvt.1_Non-coding_Transcript	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	90	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCCTCTCAGGTAAATTCTGC	0.512000														84			42		0	0	0.000781405	0	0
REEP1	65055	broad.mit.edu	37	2	86491156	86491156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:86491156C>T	uc021vke.1	-	2	142	c.135G>A	c.(133-135)tgG>tgA	p.W45*	REEP1_uc002srh.4_Nonsense_Mutation_p.W38*|REEP1_uc010yth.2_Nonsense_Mutation_p.W11*|REEP1_uc010yti.2_Nonsense_Mutation_p.W38*|REEP1_uc010ytg.2_Nonsense_Mutation_p.W17*	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTACATCATCCATTTGACCT	0.463000														25			9		0	0	0.000274275	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560478	44560478	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:44560478G>A	uc002lcr.1	-	0	1511	c.1158C>T	c.(1156-1158)taC>taT	p.Y386Y	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	386					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTAGGTGAGGTATTTTTCAC	0.483000														51			21		0	0	0.000175454	0	0
TSEN2	80746	broad.mit.edu	37	3	12545010	12545011	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:12545010_12545011CC>AA	uc003bxc.3	+	4	945_946	c.558_559CC>AA	c.(556-561)ccccgt>ccAAgt	p.R187S	TSEN2_uc003bwz.3_Intron|TSEN2_uc003bxa.3_Missense_Mutation_p.R187S|TSEN2_uc011auq.1_Missense_Mutation_p.R187S|TSEN2_uc003bxb.3_Missense_Mutation_p.R187S|TSEN2_uc011aur.1_Missense_Mutation_p.R96S	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	187					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.R187S(2)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TGGGTGATCCCCGTGAGCCATT	0.564000														429			10		0	0	6.4e-05	0	0
ADAM15	8751	broad.mit.edu	37	1	155028322	155028322	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:155028322C>T	uc001fgr.1	+	6	770	c.669C>T	c.(667-669)caC>caT	p.H223H	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Silent_p.H207H|ADAM15_uc010peu.1_Silent_p.H240H|ADAM15_uc001fgx.1_Silent_p.H223H|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.H223H|ADAM15_uc001fgs.1_Silent_p.H223H|ADAM15_uc010pev.1_Silent_p.H233H|ADAM15_uc001fgu.1_Silent_p.H223H|ADAM15_uc001fgv.1_Silent_p.H223H|ADAM15_uc001fgw.1_Silent_p.H223H	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	223	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGCTGATCACTCGGAGGTGA	0.572000														47			25		0	0	0.000586117	0	0
ALAS2	212	broad.mit.edu	37	X	55051268	55051268	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:55051268G>A	uc004dua.4	-	2	325	c.187C>T	c.(187-189)Cca>Tca	p.P63S	ALAS2_uc004dub.4_Missense_Mutation_p.P87S|ALAS2_uc004dud.4_Missense_Mutation_p.P63S	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GCCCAAGATGGAGAATCTATG	0.473000														11			31		0	0	0.000339439	0	0
DHX58	79132	broad.mit.edu	37	17	40261367	40261367	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:40261367G>A	uc002hyw.3	-	5	822	c.599C>T	c.(598-600)cCc>cTc	p.P200L	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.P193L	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	200					innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCAGTTCTGGGGTGACATGAT	0.592000														28			13		0	0	0.00010058	0	0
MYH2	4620	broad.mit.edu	37	17	10430322	10430322	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:10430322G>A	uc010coi.3	-	28	4051	c.3923C>T	c.(3922-3924)tCa>tTa	p.S1308L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1308L|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1308					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1308*(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGCCTCTTGATAACTGAGA	0.373000														38			13		0	0	0.000151284	0	0
MYO7B	4648	broad.mit.edu	37	2	128339539	128339539	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:128339539C>T	uc002top.3	+	10	1207	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	385	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTCACCAGGTCCCTGAACATT	0.612000														48			13		0	0	0.000308642	0	0
RPL18	6141	broad.mit.edu	37	19	49120029	49120029	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:49120029C>T	uc002pjq.1	-	3	284	c.251G>A	c.(250-252)gGg>gAg	p.G84E	RPL18_uc010xzs.1_Missense_Mutation_p.G84E|RPL18_uc021uwv.1_3'UTR|SPHK2_uc010xzt.2_5'Flank|SPHK2_uc002pjt.3_5'Flank|SPHK2_uc002pjr.3_5'Flank|SPHK2_uc002pjs.3_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.	84					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		AGTTATGGTCCCCACAACCAC	0.552000														46			25		0	0	0.000227799	0	0
SNTB1	6641	broad.mit.edu	37	8	121644849	121644849	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:121644849G>A	uc010mdg.3	-	2	1057	c.831C>T	c.(829-831)atC>atT	p.I277I	SNTB1_uc003ype.3_Silent_p.I277I	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	277	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGCTCCTTAGGATCACCGTGT	0.537000														43			18		0	0	0.000295444	0	0
LMOD3	56203	broad.mit.edu	37	3	69171272	69171272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:69171272C>T	uc003dns.2	-	0	475	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	LMOD3_uc003dnt.2_Missense_Mutation_p.R89Q	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	89	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GACAGGAACTCGTTCCTCTTC	0.458000														11			5		0	0	3.59834e-05	0	0
MYO5B	4645	broad.mit.edu	37	18	47373529	47373529	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:47373529C>T	uc002leb.2	-	32	4734	c.4446G>A	c.(4444-4446)cgG>cgA	p.R1482R	MYO5B_uc002ldz.3_Silent_p.R52R|MYO5B_uc002lea.2_Silent_p.R597R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1482					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCACCAGGTTCCGGATGAGGA	0.622000														32			8		0	0	0.000157383	0	0
OR5P2	120065	broad.mit.edu	37	11	7817741	7817741	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:7817741G>A	uc001mfp.1	-	0	749	c.749C>T	c.(748-750)aCc>aTc	p.T250I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGGTAATGGTCCCATAGAA	0.502000														51			22		0	0	0.000295444	0	0
C1orf173	127254	broad.mit.edu	37	1	75037410	75037410	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:75037410C>T	uc001dgg.3	-	13	4203	c.3984G>A	c.(3982-3984)aaG>aaA	p.K1328K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1328	Glu-rich.							p.K1328K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCCCTCATTCTTTTGTGTGT	0.557000														81			30		0	0	0.000339439	0	0
CPEB1	64506	broad.mit.edu	37	15	83221289	83221289	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:83221289G>A	uc002bit.3	-	7	1473	c.1336C>T	c.(1336-1338)Cca>Tca	p.P446S	CPEB1_uc002bir.3_Missense_Mutation_p.P311S|CPEB1_uc002bis.3_Missense_Mutation_p.P306S|CPEB1_uc010uod.2_Missense_Mutation_p.P155S|CPEB1_uc002biq.3_Missense_Mutation_p.P306S|CPEB1_uc010uoe.2_Missense_Mutation_p.P384S|CPEB1_uc002biu.3_Missense_Mutation_p.P408S|CPEB1_uc010uof.2_Missense_Mutation_p.P306S|CPEB1_uc002biv.3_Missense_Mutation_p.P381S|CPEB1_uc002bip.3_Missense_Mutation_p.P155S	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	386	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.			L -> Q (in Ref. 2; BAB14496).	mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGGCCATCTGGGCTCAGCGGG	0.493000														51			18		0	0	0.000958276	0	0
CDH5	1003	broad.mit.edu	37	16	66436844	66436844	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:66436844C>T	uc002eom.4	+	11	2283	c.2127C>T	c.(2125-2127)atC>atT	p.I709I		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	709					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCCATGATCGAGGTGAAGA	0.697000														12			9		0	0	0.000673444	0	0
NOBOX	135935	broad.mit.edu	37	7	144101719	144101719	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:144101719C>T	uc022aoj.1	-	1	140	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	47					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCCACAGACTCCGTAGATCCG	0.572000														47			13		0	0	0.000219431	0	0
MYF6	4618	broad.mit.edu	37	12	81101933	81101933	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:81101933G>A	uc001szf.2	+	0	526	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	145	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGCGGCTGCAGGACCTGCTGC	0.587000														33			15		0	0	0.000566183	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258595	97258595	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:97258595C>T	uc003yhs.1	-	4	843	c.765G>A	c.(763-765)gtG>gtA	p.V255V	MTERFD1_uc003yhr.1_Silent_p.V134V|MTERFD1_uc010mbd.1_Silent_p.V255V	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	255					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CCAGTCTTTCCACTGAAAAGT	0.358000														26			8		0	0	0.000673444	0	0
TRIM42	287015	broad.mit.edu	37	3	140397412	140397412	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:140397412C>T	uc003eto.2	+	1	547	c.341_splice	c.e1+1	p.S114_splice		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	114						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCCATACCTCGTAAGTGCCA	0.562000														10			8		0	0	0.000157383	0	0
MGAT5	4249	broad.mit.edu	37	2	135119946	135119947	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:135119946_135119947CC>AA	uc002ttw.4	+	9	1492_1493	c.1347_1348CC>AA	c.(1345-1350)tccctt>tcAAtt	p.L450I		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	450					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AGAACCAGTCCCTTGTGTATGG	0.441000														308			10		0	0	6.4e-05	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472417	123472417	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:123472417G>A	uc001uej.1	-	19	3228	c.3029C>T	c.(3028-3030)gCc>gTc	p.A1010V	PITPNM2_uc001uek.1_Missense_Mutation_p.A1004V	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	1010					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATTGGCAAGGGCATCATTGAT	0.637000														16			7		0	0	0.000442599	0	0
FRMPD2	143162	broad.mit.edu	37	10	49450341	49450341	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:49450341G>T	uc001jgi.3	-	4	761	c.430C>A	c.(430-432)Cag>Aag	p.Q144K	FRMPD2_uc001jgh.3_Missense_Mutation_p.Q113K|FRMPD2_uc001jgj.3_Missense_Mutation_p.Q113K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	144	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGTGAGGCTGGTCTTCACAC	0.612000														20			16		1.00905e-13	8.86626e-13	0.000132079	1	0
DHX35	60625	broad.mit.edu	37	20	37632434	37632434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:37632434C>T	uc002xjh.3	+	10	925	c.895C>T	c.(895-897)Cga>Tga	p.R299*	DHX35_uc010zwa.2_Nonsense_Mutation_p.R144*|DHX35_uc010zwc.2_Nonsense_Mutation_p.R268*|DHX35_uc010zwb.2_Nonsense_Mutation_p.R144*	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	299	Helicase C-terminal.					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)				CGAGCAGGCTCGAGCACTAGC	0.468000														54			24		0	0	0.000720815	0	0
OR51B4	79339	broad.mit.edu	37	11	5322817	5322817	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:5322817G>A	uc010qza.2	-	0	360	c.360C>T	c.(358-360)ttC>ttT	p.F120F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGGCAATGAAACAGTCAT	0.458000														54			32		0	0	0.000279167	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384058	62384058	+	Missense_Mutation	SNP	G	A	A	rs149098151		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:62384058G>A	uc001ntw.3	-	3	1057	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.R270W|B3GAT3_uc010rlz.2_Missense_Mutation_p.R277W	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	277					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.R277L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGTGGCCCCGGGGAGCGGTG	0.612000														33			19		0	0	0.000175454	0	0
NFIB	4781	broad.mit.edu	37	9	14307337	14307337	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:14307337C>T	uc022bdo.1	-	1	748	c.213G>A	c.(211-213)aaG>aaA	p.K71K	NFIB_uc003zlf.3_Silent_p.K71K|NFIB_uc003zle.3_Silent_p.K71K|NFIB_uc022bdp.1_Silent_p.K97K|NFIB_uc011lmo.2_Silent_p.K71K	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	71					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TGGATGCCCACTTCTGTTTGA	0.473000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""									20			20		0	0	0.000229342	0	0
CD101	9398	broad.mit.edu	37	1	117552540	117552540	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:117552540C>T	uc010oxb.1	+	1	170	c.112C>T	c.(112-114)Cca>Tca	p.P38S	CD101_uc009whd.3_Missense_Mutation_p.P38S|CD101_uc010oxc.1_Missense_Mutation_p.P38S|CD101_uc010oxd.1_Missense_Mutation_p.P38S	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	38	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAAGGTTACCCAGTCAGCAT	0.488000														41			22		0	0	0.000295444	0	0
NDST3	9348	broad.mit.edu	37	4	118975378	118975378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:118975378C>T	uc003ibx.3	+	1	716	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	NDST3_uc011cgf.1_Nonsense_Mutation_p.Q105*|NDST3_uc003ibw.3_Nonsense_Mutation_p.Q105*	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	105	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAGTAGATTCCAGTATCACAT	0.378000														32			14		0	0	0.000219431	0	0
JARID2	3720	broad.mit.edu	37	6	15501487	15501487	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:15501487C>T	uc003nbj.3	+	7	2539	c.2295C>T	c.(2293-2295)gcC>gcT	p.A765A	JARID2_uc011div.2_Silent_p.A593A|JARID2_uc011diw.1_Silent_p.A727A	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	765					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACGGCGTGGCCCCCAGGAACG	0.637000														54			19		0	0	0.000132079	0	0
FAM40A	85369	broad.mit.edu	37	1	110590400	110590400	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:110590400C>T	uc001dza.1	+	14	1589	c.1570C>T	c.(1570-1572)Ctc>Ttc	p.L524F	FAM40A_uc001dyz.1_Missense_Mutation_p.L429F|FAM40A_uc009wfp.1_Missense_Mutation_p.L348F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	524						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CCAGATTGCCCTCCTGAAGAT	0.532000														6			4		0	0	0.00024832	0	0
ZNF423	23090	broad.mit.edu	37	16	49764708	49764708	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:49764708T>G	uc002efs.3	-	3	549	c.251A>C	c.(250-252)gAc>gCc	p.D84A		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	84					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCCCGGTGGTCCGTCAGGTC	0.527000														59			5		0	0	8.12818e-05	0	0
DDX60	55601	broad.mit.edu	37	4	169204743	169204743	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:169204743G>A	uc003irp.3	-	12	1868	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	526							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAACACGAGGGTCTCTAGAT	0.318000														26			10		0	0	0.000673444	0	0
WNT2B	7482	broad.mit.edu	37	1	113010171	113010171	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:113010171C>T	uc001eca.3	+	0	132	c.12C>T	c.(10-12)ggC>ggT	p.G4G	WNT2B_uc009wgg.3_5'UTR	NM_004185	NP_004176	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B1, mRNA.	0					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		tgttggatggccttggagtgg	0.333000														24			15		0	0	0.000566183	0	0
DBC1	1620	broad.mit.edu	37	9	121929380	121929380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:121929380C>T	uc004bkc.2	-	7	2724	c.2268G>A	c.(2266-2268)atG>atA	p.M756I		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	756					cell cycle arrest|cell death	cytoplasm	protein binding	p.Q755K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTTTGGCTGTCATCTGGTCCG	0.478000														85			44		0	0	0.000781405	0	0
C1orf86	199990	broad.mit.edu	37	1	2125233	2125234	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:2125233_2125234GT>AA	uc001aix.2	-	6	1074_1075	c.301_302AC>TT	c.(301-303)acg>TTg	p.T101L	C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Missense_Mutation_p.H105L	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN	Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.	79										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTCCTGCCCCGTGAAGCAGCCG	0.698000														12			7		0	0	6.4e-05	0	0
NELL1	4745	broad.mit.edu	37	11	21555941	21555941	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:21555941G>A	uc009yid.3	+	16	1904	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.G556E|NELL1_uc001mqf.3_Intron|NELL1_uc010rdo.2_Missense_Mutation_p.G499E|NELL1_uc001mqh.3_Missense_Mutation_p.E166K	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	556	EGF-like 5; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.D584N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGTTCAGAGGGAATCATTGAG	0.458000														46			21		0	0	0.000586117	0	0
HEATR8	374977	broad.mit.edu	37	1	55119323	55119323	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:55119323C>T	uc010ooe.1	+	2	1048	c.724C>T	c.(724-726)Cca>Tca	p.P242S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.P242S|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.P242S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	242						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACCCTAATCCCAGACACAAA	0.453000														27			15		0	0	0.000308642	0	0
NDNF	79625	broad.mit.edu	37	4	121958511	121958511	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:121958511C>T	uc003idq.1	-	3	1142	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	205								p.L204S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGGGTTGTTTCAGCAAAGAGG	0.483000														79			29		0	0	0.000227799	0	0
ATG4D	84971	broad.mit.edu	37	19	10655730	10655730	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:10655730C>T	uc002mov.3	+	2	537	c.417C>T	c.(415-417)gaC>gaT	p.D139D	ATG4D_uc010xlg.2_Silent_p.D162D|ATG4D_uc010xlh.2_Silent_p.D76D|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_5'UTR	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	139					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGACCTCGGACTGTGGCTGGG	0.637000														71			24		0	0	0.00047179	0	0
CDH18	1016	broad.mit.edu	37	5	19544014	19544014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:19544014G>A	uc003jgd.3	-	8	1888	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S	CDH18_uc011cnm.2_Missense_Mutation_p.P452S|CDH18_uc003jgc.3_Missense_Mutation_p.P452S|CDH18_uc021xwu.1_Missense_Mutation_p.P452S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P452R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTGTACCATGGAGTTTCTTCT	0.368000														71			16		0	0	0.000566183	0	0
C1orf173	127254	broad.mit.edu	37	1	75102032	75102032	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:75102032G>A	uc001dgg.3	-	5	754	c.535C>T	c.(535-537)Cca>Tca	p.P179S	C1orf173_uc001dgi.4_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	179										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTACCTTTGGAACAGTTTCT	0.393000														137			77		0	0	0.000781405	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797309	42797310	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:42797309_42797310CG>AT	uc003osn.1	+	5	1389_1390	c.1238_1239CG>AT	c.(1237-1239)tcg>tAT	p.S413Y	KIAA0240_uc003osm.1_Missense_Mutation_p.S413Y|KIAA0240_uc011duw.1_Missense_Mutation_p.S413Y|KIAA0240_uc003oso.1_Missense_Mutation_p.S413Y|KIAA0240_uc003osp.1_Missense_Mutation_p.S413Y	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	413										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AGTTCCAACTCGGTACACCACG	0.490000														271			7		0	0	6.4e-05	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305949	27305949	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:27305949G>A	uc002rii.4	+	3	2009	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M	EMILIN1_uc010eyq.2_Missense_Mutation_p.V485M|EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	504					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCGCAGGGTGCTGGACAG	0.692000														6			6		0	0	3.59834e-05	0	0
RGL4	266747	broad.mit.edu	37	22	24034621	24034621	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:24034621G>A	uc002zxo.3	+	1	1536	c.279G>A	c.(277-279)agG>agA	p.R93R	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.R93R|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	93					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGGCCTTCAGGAACCTCTCCT	0.562000														59			30		0	0	0.00106085	0	0
PHLPP1	23239	broad.mit.edu	37	18	60506075	60506075	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:60506075G>A	uc021ule.1	+	2	2077	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	611	PH.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GGACCCCAAAGCCAGACTTAC	0.428000														55			40		0	0	0.000319135	0	0
RPL5	6125	broad.mit.edu	37	1	93300417	93300418	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:93300417_93300418GG>AA	uc001doz.3	+	3	349_350	c.271_272GG>AA	c.(271-273)ggc>AAc	p.G91N	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.G41N|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	91					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGTGAAGGTTGGCCTGACAAAT	0.450000														78			30		0	0	6.4e-05	0	0
KIAA0664	23277	broad.mit.edu	37	17	2604766	2604766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:2604766G>A	uc002fuy.1	-	5	765	c.679C>T	c.(679-681)Ccg>Tcg	p.P227S	KIAA0664_uc002fux.1_Missense_Mutation_p.P159S	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	227							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						CGGTTCCCCGGGGGCGGGTTC	0.637000														10			5		0	0	0.000602214	0	0
FLG	2312	broad.mit.edu	37	1	152282329	152282329	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:152282329C>T	uc001ezu.1	-	2	5069	c.5033G>A	c.(5032-5034)gGa>gAa	p.G1678E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1678	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTTTCTCCTGGACTTGA	0.557000									Ichthyosis					213			96		0	0	0.000781405	0	0
NFRKB	4798	broad.mit.edu	37	11	129753057	129753057	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:129753057G>A	uc001qfg.3	-	6	1057	c.936C>T	c.(934-936)atC>atT	p.I312I	NFRKB_uc001qfi.3_Silent_p.I287I|NFRKB_uc001qfh.3_Silent_p.I310I|NFRKB_uc010sbw.1_Silent_p.I299I	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	287	Lys-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ctcgagtcatgatgtcattga	0.502000														43			25		0	0	0.000279167	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209953943	209953943	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:209953943G>A	uc001hho.3	+	14	1861	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	TRAF3IP3_uc001hhn.3_Missense_Mutation_p.E461K|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.E481K	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	481						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCAGGCCAAGGAAAAGGAGGT	0.502000														22			11		0	0	0.00010058	0	0
MTUS2	23281	broad.mit.edu	37	13	29599744	29599744	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:29599744G>T	uc001usl.4	+	0	997	c.939G>T	c.(937-939)caG>caT	p.Q313H		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	303						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AATTAGGTCAGGGAAAGGGAG	0.517000														26			16		1.5739e-10	1.37956e-09	0.000422831	1	0
FREM2	341640	broad.mit.edu	37	13	39453036	39453036	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:39453036G>A	uc001uwv.3	+	22	9237	c.8928G>A	c.(8926-8928)gtG>gtA	p.V2976V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2976					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACTAGCAGTGGATGACCCTG	0.438000														65			17		0	0	0.000566183	0	0
RALGAPB	57148	broad.mit.edu	37	20	37150200	37150200	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:37150200C>T	uc002xiw.3	+	9	1735	c.1478C>T	c.(1477-1479)aCc>aTc	p.T493I	RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.3_Missense_Mutation_p.T493I|RALGAPB_uc002xiy.1_Missense_Mutation_p.T493I|RALGAPB_uc002xiz.3_Missense_Mutation_p.T271I|RALGAPB_uc002xja.1_Missense_Mutation_p.T220I	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	493					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCCACAGACACCATGGTTTCC	0.423000														48			18		0	0	0.000958276	0	0
CEP72	55722	broad.mit.edu	37	5	647960	647960	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:647960G>A	uc003jbf.3	+	10	1779	c.1707G>A	c.(1705-1707)gtG>gtA	p.V569V		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	569					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCGAGATTGTGGAACTGAAGC	0.478000														32			23		0	0	0.00106085	0	0
GKN1	56287	broad.mit.edu	37	2	69207947	69207947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:69207947G>A	uc002sfc.3	+	5	655	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	198					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						AGACACGGTGGAGAACTAAAC	0.393000														30			18		0	0	0.000132079	0	0
NALCN	259232	broad.mit.edu	37	13	101762972	101762972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:101762972C>T	uc001vox.1	-	19	2551	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	788						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.D788N(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACTTACATCTTGAGTCAAA	0.388000														52			26		0	0	0.000184323	0	0
PLRG1	5356	broad.mit.edu	37	4	155461135	155461135	+	Missense_Mutation	SNP	C	T	T	rs140568729		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:155461135C>T	uc003iny.3	-	10	1135	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	PLRG1_uc003inz.3_Missense_Mutation_p.R328K	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	337						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGCCTGACATCTCACTGTAGC	0.333000														67			23		0	0	0.000184323	0	0
DL492607	0	broad.mit.edu	37	11	113660356	113660356	+	RNA	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:113660356G>A	uc001pof.1	+	0		c.404G>A								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		ACCTGGCAGAGGTGAAGGACT	0.562000														6			3		0	0	6.4e-05	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43770369	43770369	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:43770369G>A	uc010skx.2	-	32	5083	c.5083C>T	c.(5083-5085)Cat>Tat	p.H1695Y		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1695	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGTTTTAAATGGTTTAAACAT	0.343000														24			18		0	0	0.000566183	0	0
EHMT1	79813	broad.mit.edu	37	9	140729342	140729342	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:140729342C>T	uc011mfc.2	+	26	3871	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A	EHMT1_uc004coe.3_Silent_p.A183A	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1278					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCAGCGCGGCCCAGGAGGCCC	0.741000														4			7		0	0	8.12818e-05	0	0
PPT2	9374	broad.mit.edu	37	6	32130605	32130605	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:32130605G>T	uc003nzw.3	+	8	980	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	PPT2_uc003nzx.3_Missense_Mutation_p.G263W|PPT2_uc003nzz.3_Missense_Mutation_p.G263W|PPT2_uc021yvl.1_Intron|EGFL8_uc003nzy.2_Intron|PPT2_uc010jtu.1_Intron|EGFL8_uc003oab.1_5'Flank|EGFL8_uc003oac.1_5'Flank	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	263					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.G269W(4)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GGATTCTTTTGGGTTGAAGAC	0.542000														593			11		0.000151284	0.00130688	0.000151284	1	0
PPIL6	285755	broad.mit.edu	37	6	109748118	109748118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:109748118C>T	uc010kdp.3	-	4	1144	c.563G>A	c.(562-564)gGc>gAc	p.G188D	PPIL6_uc003ptg.4_Missense_Mutation_p.G188D|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	188	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TAGTCTTATGCCACGTTGAGA	0.353000														117			5		0	0	0.000602214	0	0
AFF1	4299	broad.mit.edu	37	4	87968195	87968195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:87968195C>T	uc011ccz.2	+	3	783	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	AFF1_uc011ccx.2_Missense_Mutation_p.R104C|AFF1_uc003hqh.2_Missense_Mutation_p.R170C|AFF1_uc011ccy.2_Missense_Mutation_p.R170C|AFF1_uc003hqj.4_Missense_Mutation_p.R163C|AFF1_uc003hqk.4_Missense_Mutation_p.R163C|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	163						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GACCCAGGATCGCCTTGGTCA	0.572000														39			23		0	0	0.000295444	0	0
TNIP3	79931	broad.mit.edu	37	4	122062995	122062995	+	Silent	SNP	A	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:122062995A>T	uc021xrj.1	-	11	1171	c.1092T>A	c.(1090-1092)gcT>gcA	p.A364A	TNIP3_uc010ing.3_Silent_p.A287A|TNIP3_uc011cgj.2_Silent_p.A357A	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	287										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCTTCTGCACAGCTCCAGGGC	0.473000														28			15		0	0	0.000566183	0	0
MYO15A	51168	broad.mit.edu	37	17	18022335	18022335	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:18022335G>A	uc021trm.1	+	0	440	c.221G>A	c.(220-222)aGg>aAg	p.R74K	MYO15A_uc021trl.1_Missense_Mutation_p.R74K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	74	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAGCGCAAGAGGAAGGCCCGC	0.622000														6			7		0	0	0.000274275	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036316	57036316	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:57036316G>A	uc010zzp.1	-	4	1393	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	APCDD1L_uc002xze.1_Missense_Mutation_p.R346C	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	346						integral to membrane		p.R346C(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GTGCCGCCGCGGACCCTGGTG	0.652000														17			9		0	0	0.000673444	0	0
ENAH	55740	broad.mit.edu	37	1	225700625	225700625	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:225700625G>A	uc001hpc.1	-	7	1765	c.1312C>T	c.(1312-1314)Cct>Tct	p.P438S	ENAH_uc021pju.1_Missense_Mutation_p.P388S|ENAH_uc001hpd.1_Missense_Mutation_p.P438S|ENAH_uc001hpb.1_Missense_Mutation_p.P57S	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	438	EVH2.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CCCCCTAAAGGAAGGGGTCCA	0.458000														67			22		0	0	0.000295444	0	0
LRRC43	254050	broad.mit.edu	37	12	122685132	122685132	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:122685132G>A	uc009zxm.3	+	8	1570	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	LRRC43_uc001ubw.4_Silent_p.K330K|LRRC43_uc009zxn.3_Silent_p.K276K	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	515	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGTCTGCCaagaaaggaaagg	0.592000														65			40		0	0	0.000589545	0	0
KIF21B	23046	broad.mit.edu	37	1	200969701	200969701	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:200969701G>A	uc001gvs.2	-	10	1819	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	KIF21B_uc009wzl.2_Missense_Mutation_p.S501F|KIF21B_uc001gvr.2_Missense_Mutation_p.S501F|KIF21B_uc010ppn.2_Missense_Mutation_p.S501F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	501					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCGGCGCAGGGACTCGTTCAT	0.672000														20			7		0	0	8.12818e-05	0	0
VN1R5	317705	broad.mit.edu	37	1	247419600	247419600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:247419600G>A	uc010pyu.2	+	1	224	c.224G>A	c.(223-225)aGg>aAg	p.R75K		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	76					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TTCAGTCACAGGTCTAAGTCC	0.398000														144			61		0	0	0.000781405	0	0
C15orf2	23742	broad.mit.edu	37	15	24921469	24921469	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:24921469G>A	uc001ywo.3	+	0	929	c.455G>A	c.(454-456)tGg>tAg	p.W152*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	152			W -> R (in dbSNP:rs35870568).		cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACCGAGGTGTGGGCCCAAGAA	0.617000														22			12		0	0	0.000151284	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:21971209T>C	uc003zpk.3	-	2	457	c.151_splice	c.e2-1	p.V51_splice	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Splice_Site|CDKN2A_uc010miu.3_Splice_Site_p.V51_splice|CDKN2A_uc003zpl.3_Splice_Site_p.G65_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	51					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.?(23)|p.0(1)|p.V28_V51del(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)		CATCATGACCTGCCAGAGAGA	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				18			7		0	0	8.12818e-05	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013557	149013557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:149013557G>A	uc022cgq.1	+	0	511	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	MAGEA8_uc022cgo.1_Missense_Mutation_p.E171K|MAGEA8_uc004fdw.2_Missense_Mutation_p.E171K|MAGEA8_uc022cgp.1_Missense_Mutation_p.E171K	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	171	MAGE.							p.E171K(2)|p.E171D(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TGATGTGAAGGAAGTGGACCC	0.512000														22			27		0	0	0.000586117	0	0
OR2C1	4993	broad.mit.edu	37	16	3406106	3406106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:3406106C>T	uc002cuw.1	+	0	218	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H56Q(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGCCCGGCTCCATACACCCAT	0.502000														79			38		0	0	0.000437636	0	0
ATP2C2	9914	broad.mit.edu	37	16	84442070	84442070	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:84442070G>A	uc010chj.3	+	3	476	c.387G>A	c.(385-387)aaG>aaA	p.K129K	ATP2C2_uc002fhx.3_Silent_p.K129K|ATP2C2_uc002fhy.3_Silent_p.K146K|ATP2C2_uc002fhz.3_5'UTR	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	129					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCCTCACCAAGGAGTATGAGG	0.587000														19			10		0	0	0.000978159	0	0
SEPT4	5414	broad.mit.edu	37	17	56599115	56599115	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:56599115C>T	uc010wnx.2	-	7	1087	c.942G>A	c.(940-942)gtG>gtA	p.V314V	SEPT4_uc002iwk.2_Silent_p.V152V|SEPT4_uc010wnw.2_Silent_p.V152V|SEPT4_uc002iwl.2_Silent_p.V152V|SEPT4_uc002iwm.2_Silent_p.V299V|SEPT4_uc002iwo.2_Silent_p.V280V|SEPT4_uc002iwp.2_3'UTR|SEPT4_uc010wny.2_Silent_p.V291V|SEPT4_uc010dcy.2_3'UTR	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	299					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTGTGGTCCACTTCGGGAG	0.567000														45			17		0	0	0.000566183	0	0
GPD1	2819	broad.mit.edu	37	12	50500671	50500671	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:50500671G>A	uc001rvz.3	+	4	616	c.583G>A	c.(583-585)Gac>Aac	p.D195N	GPD1_uc001rwa.3_Missense_Mutation_p.D172N	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	195					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GCAAGAGGTGGACACAGTAGA	0.572000														24			15		0	0	0.000308642	0	0
ZNF462	58499	broad.mit.edu	37	9	109691314	109691314	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:109691314C>T	uc004bcz.3	+	2	5410	c.5121C>T	c.(5119-5121)ccC>ccT	p.P1707P	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P1555P|ZNF462_uc004bda.3_Silent_p.P1555P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1707					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACCAACCCCATCCGCAAAG	0.567000														27			10		0	0	0.000978159	0	0
MAN2A2	4122	broad.mit.edu	37	15	91455395	91455395	+	Silent	SNP	C	T	T	rs138366479	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:91455395C>T	uc010bnz.2	+	14	2347	c.2232C>T	c.(2230-2232)tcC>tcT	p.S744S	MAN2A2_uc002bqc.3_Silent_p.S744S|MAN2A2_uc010uql.2_Silent_p.S406S|MAN2A2_uc010uqm.2_Silent_p.S323S|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	744					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCAGCTGTCCGTCAGCAGGC	0.647000														165			76		0	0	0.000781405	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804148	160804148	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:160804148G>A	uc003fdv.3	-	4	814	c.395C>T	c.(394-396)tCc>tTc	p.S132F	B3GALNT1_uc003fdw.3_Missense_Mutation_p.S132F|B3GALNT1_uc003fdx.3_Missense_Mutation_p.S132F|B3GALNT1_uc003fdy.3_Missense_Mutation_p.S132F|B3GALNT1_uc003fdz.3_Missense_Mutation_p.S132F|B3GALNT1_uc003fea.3_Missense_Mutation_p.S132F|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.S132F	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	132					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			ATCCTCTAAGGACAATGCCAA	0.383000														61			23		0	0	0.00047179	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581071	234581071	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:234581071C>T	uc002vus.3	+	0	528	c.491C>T	c.(490-492)cCc>cTc	p.P164L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.P164L	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	167					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTCTCCCTCCCCTCCGTGGTC	0.433000														131			43		0	0	0.000680045	0	0
IFT57	55081	broad.mit.edu	37	3	107885815	107885815	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:107885815G>A	uc021xcc.1	-	7	1013	c.960C>T	c.(958-960)ctC>ctT	p.L320L	IFT57_uc003dwx.4_Silent_p.L289L	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	289					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTTCATTATGGAGTTTGTCCA	0.338000														19			16		0	0	0.000229342	0	0
DNM3	26052	broad.mit.edu	37	1	172002324	172002324	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:172002324G>A	uc001gie.3	+	5	944	c.768G>A	c.(766-768)agG>agA	p.R256R	DNM3_uc001gid.4_Silent_p.R256R|DNM3_uc009wwb.2_Silent_p.R256R|DNM3_uc001gif.3_Silent_p.R256R	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	256					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGCAGAGAGGAAGTTTTTCC	0.468000														18			8		0	0	0.000157383	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:53103787C>T	uc003tpz.3	+	0	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000														17			7		0	0	0.000274275	0	0
C7orf53	286006	broad.mit.edu	37	7	112129972	112129972	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:112129972C>T	uc011kmq.2	+	3	499	c.364C>T	c.(364-366)Caa>Taa	p.Q122*	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Nonsense_Mutation_p.Q122*	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	122						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						GCGACTCAACCAACTCAACCA	0.393000														63			21		0	0	0.000295444	0	0
FAT4	79633	broad.mit.edu	37	4	126371771	126371771	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:126371771C>T	uc003ifj.4	+	8	9600	c.9600C>T	c.(9598-9600)ttC>ttT	p.F3200F	FAT4_uc011cgp.2_Silent_p.F1498F|FAT4_uc003ifi.1_Silent_p.F678F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3200	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y3199Y(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGACTATTTCCCTACTGTTT	0.418000														47			14		0	0	0.000219431	0	0
BSN	8927	broad.mit.edu	37	3	49692712	49692713	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:49692712_49692713CC>TT	uc003cxe.4	+	4	5837_5838	c.5723_5724CC>TT	c.(5722-5724)ccc>cTT	p.P1908L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1908					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TACAAGCTCCCCTTTGGCAGCA	0.639000														20			17		0	0	6.4e-05	0	0
ASXL3	80816	broad.mit.edu	37	18	31318725	31318725	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:31318725G>A	uc010dmg.1	+	10	1412	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	ASXL3_uc002kxq.2_Missense_Mutation_p.E160K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATTCAGGAGGAAATTGCAGA	0.393000														55			22		0	0	0.00047179	0	0
BCHE	590	broad.mit.edu	37	3	165491209	165491209	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:165491209G>C	uc003fem.4	-	3	1930	c.1770C>G	c.(1768-1770)aaC>aaG	p.N590K	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	590					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TAGTGTAATCGTTAAATTGAT	0.343000														23			12		0	0	0.000978159	0	0
ALPK3	57538	broad.mit.edu	37	15	85401310	85401310	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:85401310G>A	uc002ble.3	+	5	4114	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1316					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGCTGGTCGACTGGGGGAG	0.682000														6			4		0	0	0.000602214	0	0
DSCR6	53820	broad.mit.edu	37	21	38390367	38390367	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr21:38390367G>A	uc002yvv.3	+	3	643	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	DSCR6_uc011aec.2_Silent_p.R31R|DSCR6_uc010gnd.3_Silent_p.R31R	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	145						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				AGGTCGGCAGGAAAATGGCCC	0.632000														17			5		0	0	0.000602214	0	0
CAD	790	broad.mit.edu	37	2	27462330	27462330	+	Silent	SNP	C	T	T	rs115849996	by1000genomes	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:27462330C>T	uc002rji.3	+	32	5547	c.5385C>T	c.(5383-5385)atC>atT	p.I1795I	CAD_uc010eyw.3_Silent_p.I1732I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1795	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTGCCTATATCGATGGGCAGG	0.577000														19			12		0	0	0.000308642	0	0
COL3A1	1281	broad.mit.edu	37	2	189849645	189849645	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:189849645C>T	uc002uqj.1	+	1	356	c.239C>T	c.(238-240)cCa>cTa	p.P80L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	80	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGAAATTCCATTTGGAGAA	0.413000														33			11		0	0	0.000978159	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64606355	64606355	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:64606355G>A	uc001obs.4	-	7	896	c.896C>T	c.(895-897)cCg>cTg	p.P299L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	299	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGGCACGTCCGGGGGGAACTG	0.672000														17			6		0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9062146	9062146	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:9062146T>G	uc002mkp.3	-	2	25504	c.25300A>C	c.(25300-25302)Agc>Cgc	p.S8434R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8436	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G8433R(1)|p.G8433E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACAGTGCTTCCCTCTGTG	0.522000														59			20		0	0	0.000175454	0	0
XIRP1	165904	broad.mit.edu	37	3	39229628	39229628	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:39229628C>T	uc003cjk.2	-	1	1538	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	XIRP1_uc003cji.3_Missense_Mutation_p.D437N|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.D437N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	437							actin binding	p.G436A(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCTTCACATCCCCCTTTAGC	0.557000														102			42		0	0	0.000437636	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:59283138C>T	uc010rkv.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000														94			67		0	0	0.000781405	0	0
SERPINF1	5176	broad.mit.edu	37	17	1679855	1679855	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:1679855G>A	uc002ftl.3	+	6	973	c.816G>A	c.(814-816)atG>atA	p.M272I		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	272					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CCGGAAGCATGAGTATCATCT	0.517000														70			42		0	0	0.000781405	0	0
EIF2C1	26523	broad.mit.edu	37	1	36379791	36379791	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:36379791C>T	uc001bzl.3	+	13	1962	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A	EIF2C1_uc001bzk.3_Silent_p.A508A|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	583	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGCTCTGCCGTTTTTCAAC	0.502000														59			31		0	0	0.00058488	0	0
BIN2	51411	broad.mit.edu	37	12	51695844	51695844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:51695844C>T	uc001ryg.3	-	4	420	c.368G>A	c.(367-369)aGg>aAg	p.R123K	BIN2_uc009zlz.3_Intron|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.R97K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	123	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTCCATGGTCCTTACAGCCTG	0.463000														36			11		0	0	0.000978159	0	0
COL22A1	169044	broad.mit.edu	37	8	139611141	139611141	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:139611141C>T	uc003yvd.3	-	61	4633	c.4186_splice	c.e61-1	p.G1396_splice	COL22A1_uc011ljo.2_Splice_Site_p.G676_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1396	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGATCTCCCTAAGGAGGA	0.567000										HNSCC(7;0.00092)				14			5		0	0	8.12818e-05	0	0
LGI1	9211	broad.mit.edu	37	10	95557310	95557310	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:95557310G>A	uc001kjc.4	+	7	1760	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.G427E|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	475					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CCATCGCGAGGATCCATGGTG	0.428000														14			16		0	0	0.000308642	0	0
GCKR	2646	broad.mit.edu	37	2	27728604	27728604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:27728604C>T	uc002rky.3	+	9	836	c.770C>T	c.(769-771)tCc>tTc	p.S257F	GCKR_uc010ezd.3_Missense_Mutation_p.S257F|GCKR_uc010ylu.2_Missense_Mutation_p.S67F	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	257	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTCAGCGGCTCCTCCCGGATG	0.552000														28			17		0	0	0.000566183	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357001	104357001	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:104357001C>T	uc004bbr.3	-	0	283	c.212G>A	c.(211-213)gGa>gAa	p.G71E	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	68	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GTCCACTTCTCCATCACCGTC	0.577000														48			20		0	0	0.000175454	0	0
ALG12	79087	broad.mit.edu	37	22	50307357	50307357	+	Silent	SNP	G	A	A	rs145640635		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:50307357G>A	uc003biy.3	-	1	331	c.57C>T	c.(55-57)gcC>gcT	p.A19A		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	19					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTGGCTACGGCCACCAGCA	0.602000														59			23		0	0	0.000720815	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1817363	1817363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:1817363C>T	uc003wpr.3	+	6	804	c.626C>T	c.(625-627)cCa>cTa	p.P209L	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P234L|ARHGEF10_uc003wps.3_Missense_Mutation_p.P210L|ARHGEF10_uc003wpt.3_Missense_Mutation_p.P124L|ARHGEF10_uc010lrd.2_Missense_Mutation_p.P124L|ARHGEF10_uc003wpu.3_Missense_Mutation_p.P123L|ARHGEF10_uc022aqp.1_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	234					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATTGCAGATCCAGAGGAAGCA	0.423000														47			20		0	0	0.000229342	0	0
COL5A3	50509	broad.mit.edu	37	19	10071164	10071164	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:10071164C>T	uc002mmq.1	-	66	5247	c.5161G>A	c.(5161-5163)Gat>Aat	p.D1721N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1721	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCGCCACATCCCACAGGGGC	0.577000														47			13		0	0	0.000219431	0	0
MSH5	4439	broad.mit.edu	37	6	31710673	31710674	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:31710673_31710674CC>AA	uc003nwu.2	+	3	419_420	c.291_292CC>AA	c.(289-294)ccccag>ccAAag	p.Q98K	MSH5_uc003nwx.2_Missense_Mutation_p.Q98K|MSH5_uc003nwv.2_Missense_Mutation_p.Q98K|MSH5_uc003nww.2_Missense_Mutation_p.Q98K|MSH5_uc011dof.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	98					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						AGATCAATCCCCAGTCTGTTGT	0.431000								Direct reversal of damage;Mismatch excision repair (MMR)						393			12		0	0	6.4e-05	0	0
DOM3Z	1797	broad.mit.edu	37	6	31937781	31937781	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:31937781C>A	uc003nyp.1	-	6	1397	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	DOM3Z_uc003nyq.1_Missense_Mutation_p.W96L|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	355							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCCAGGCTCCCAAGAGAAGAG	0.587000														370			8		0.000978159	0.00840935	0.000978159	1	0
ARRDC4	91947	broad.mit.edu	37	15	98514362	98514363	+	Missense_Mutation	DNP	TT	GG	GG			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:98514362_98514363TT>GG	uc010bom.3	+	7	1361_1362	c.1202_1203TT>GG	c.(1201-1203)gtt>gGG	p.V401G	ARRDC4_uc002bui.4_Missense_Mutation_p.V314G	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	401					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTTTGCAGGTTGACCCACATC	0.386000														106			49		0	0	6.4e-05	0	0
VEGFC	7424	broad.mit.edu	37	4	177609039	177609039	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:177609039C>T	uc003ius.1	-	4	1177	c.747G>A	c.(745-747)tgG>tgA	p.W249*		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	249					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGTGATTATTCCACATGTAAT	0.463000														51			21		0	0	0.000229342	0	0
SPINK9	643394	broad.mit.edu	37	5	147719230	147719230	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:147719230G>A	uc003lpe.1	+	4	271	c.216_splice	c.e4-1	p.K72_splice	AK054753_uc003lpb.1_Intron	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 9 (SPINK9), mRNA.	72	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCCACAGGAAAACTGACG	0.333000														22			21		0	0	0.000586117	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396150	77396150	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:77396150C>T	uc002ffc.4	-	6	1487	c.1068G>A	c.(1066-1068)ttG>ttA	p.L356L	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Silent_p.L52L|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	356	Peptidase M12B.				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						GATGGTTGATCAATAATCCTC	0.408000														27			11		0	0	0.000673444	0	0
ADAM15	8751	broad.mit.edu	37	1	155028324	155028324	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:155028324C>T	uc001fgr.1	+	6	772	c.671C>T	c.(670-672)tCg>tTg	p.S224L	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.S208L|ADAM15_uc010peu.1_Missense_Mutation_p.S241L|ADAM15_uc001fgx.1_Missense_Mutation_p.S224L|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.S224L|ADAM15_uc001fgs.1_Missense_Mutation_p.S224L|ADAM15_uc010pev.1_Missense_Mutation_p.S234L|ADAM15_uc001fgu.1_Missense_Mutation_p.S224L|ADAM15_uc001fgv.1_Missense_Mutation_p.S224L|ADAM15_uc001fgw.1_Missense_Mutation_p.S224L	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	224	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTGATCACTCGGAGGTGAGC	0.572000														45			23		0	0	0.000375601	0	0
METAP2	10988	broad.mit.edu	37	12	95879696	95879696	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:95879696C>A	uc001tec.3	+	3	501	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	METAP2_uc010suv.2_Intron|METAP2_uc001tef.3_Missense_Mutation_p.L100M|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	123					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AATATGTGACCTGTATCCTAA	0.363000														170			8		0.000274275	0.00236365	0.000274275	1	0
ZNF569	148266	broad.mit.edu	37	19	37903510	37903510	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:37903510G>A	uc002ogj.3	-	8	3054	c.2122C>T	c.(2122-2124)Cat>Tat	p.H708Y	ZNF569_uc002ogh.3_Missense_Mutation_p.H525Y|ZNF569_uc002ogi.3_Missense_Mutation_p.H684Y	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAATGAGTATGAATTCTCTGG	0.403000														52			15		0	0	0.000566183	0	0
PTGER2	5732	broad.mit.edu	37	14	52782085	52782085	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:52782085C>T	uc001wzr.3	+	0	1070	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	273						integral to plasma membrane	prostaglandin E receptor activity	p.T272I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CCATCACCTTCGCCGTCTGCT	0.637000														15			13		0	0	0.000422831	0	0
DHX33	56919	broad.mit.edu	37	17	5359376	5359376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:5359376G>A	uc002gca.3	-	4	1177	c.976C>T	c.(976-978)Cct>Tct	p.P326S	DHX33_uc002gbz.3_Missense_Mutation_p.P97S|DHX33_uc002gcb.3_Missense_Mutation_p.P153S|DHX33_uc010clf.3_Missense_Mutation_p.S198F	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	326	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCGTACAGAGGAAGGACCAGC	0.607000														12			10		0	0	0.000673444	0	0
KIF6	221458	broad.mit.edu	37	6	39328221	39328221	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:39328221G>A	uc003oot.2	-	17	2127	c.2032C>T	c.(2032-2034)Cta>Tta	p.L678L	KIF6_uc003oos.2_Silent_p.L129L|KIF6_uc010jwz.1_Silent_p.L53L|KIF6_uc010jxa.1_Silent_p.L469L|KIF6_uc011dua.1_Silent_p.L661L|KIF6_uc010jxb.1_Silent_p.L622L	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	678					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTTTCTGTAGCTTCACCTTG	0.557000														36			16		0	0	0.000132079	0	0
ABLIM1	3983	broad.mit.edu	37	10	116213208	116213208	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:116213208G>A	uc021pyx.1	-	12	1575	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L	ABLIM1_uc021pyw.1_Silent_p.L492L|ABLIM1_uc021pyy.1_Silent_p.L460L|ABLIM1_uc021pyz.1_Silent_p.L426L|ABLIM1_uc021pza.1_Silent_p.L432L|ABLIM1_uc021pze.1_Silent_p.L416L|ABLIM1_uc021pzf.1_Silent_p.L454L|ABLIM1_uc021pyv.1_Intron|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Intron|ABLIM1_uc021pzd.1_Intron|ABLIM1_uc021pyu.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	492					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GCCGGTAAGGGAGAGGGGAGT	0.507000														13			12		0	0	0.000308642	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195397	78195397	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:78195397C>T	uc002jyb.2	+	2	344	c.38C>T	c.(37-39)tCc>tTc	p.S13F	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Missense_Mutation_p.S13F|SLC26A11_uc002jyd.2_Missense_Mutation_p.S13F|SLC26A11_uc010dhv.2_Missense_Mutation_p.S13F	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	13						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGGCCAGGTCCTCTGGCCCC	0.692000														9			5		0	0	8.12818e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41447102	41447102	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr21:41447102C>T	uc002yyq.1	-	26	5202	c.4750G>A	c.(4750-4752)Gaa>Aaa	p.E1584K	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1584					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCCCTTCTTCGTTTTGGACA	0.527000														30			9		0	0	0.000442599	0	0
KRT71	112802	broad.mit.edu	37	12	52940108	52940108	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:52940108G>A	uc001sao.3	-	6	1357	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	429	Coil 2.|Rod.						structural molecule activity	p.E428V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GATAGGTGGCGATCTCCATGT	0.657000														30			16		0	0	0.00074312	0	0
LRRC73	221424	broad.mit.edu	37	6	43474984	43474984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:43474984C>T	uc003ovk.1	-	5	1844	c.943G>A	c.(943-945)Gag>Aag	p.E315K	LRRC73_uc003ovj.1_Missense_Mutation_p.E124K	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Homo sapiens leucine rich repeat containing 73 (LRRC73), mRNA.	315																	AGTCACATCTCGGTCTCAGCC	0.557000											OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			5		0	0	3.59834e-05	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166684	96166685	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:96166684_96166685GG>TT	uc022ayk.1	+	0	412_413	c.412_413GG>TT	c.(412-414)ggg>TTg	p.G138L	PLEKHF2_uc003yhn.2_Missense_Mutation_p.G138L	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	138						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CTCCAAAAGTGGGAAGACACCC	0.401000														546			12		0	0	6.4e-05	0	0
OR11L1	391189	broad.mit.edu	37	1	248004339	248004339	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:248004339G>A	uc001idn.1	-	0	860	c.860C>T	c.(859-861)cCa>cTa	p.P287L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		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)			GTAGATAACTGGGTTCAGCAG	0.428000														31			11		0	0	0.000978159	0	0
C15orf55	256646	broad.mit.edu	37	15	34648407	34648407	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:34648407C>T	uc010ucc.2	+	7	2580	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	C15orf55_uc010ucd.2_Missense_Mutation_p.P723L|C15orf55_uc001zif.3_Missense_Mutation_p.P705L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	705						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GATCAGAATCCTTCCCCTAGA	0.562000			T	"""BRD3, BRD4"""	lethal midline carcinoma									23			14		0	0	0.000151284	0	0
AHDC1	27245	broad.mit.edu	37	1	27873963	27873963	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:27873963G>A	uc021ojw.1	-	0	4664	c.4664C>T	c.(4663-4665)tCg>tTg	p.S1555L	AHDC1_uc009vsy.3_Missense_Mutation_p.S1555L|AHDC1_uc009vsz.1_Missense_Mutation_p.S1555L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1555							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCAGCAGCGAGTCCCTCGG	0.716000														30			12		0	0	0.00010058	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342254	60342254	+	RNA	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:60342254C>T	uc010woz.2	-	13		c.1875G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GAATGTCTCTCGAGCTGCACT	0.483000														31			21		0	0	0.000132079	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310207	7310207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:7310207C>T	uc001qss.3	+	15	3224	c.2686C>T	c.(2686-2688)Cca>Tca	p.P896S	CLSTN3_uc001qsr.3_Missense_Mutation_p.P884S|CLSTN3_uc001qst.3_Missense_Mutation_p.P292S	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	884					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CGGCGGGCCTCCAGGGGCCTC	0.642000														7			7		0	0	0.000274275	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989726	64989726	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:64989726G>A	uc021rul.1	+	0	1504	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	ZBTB1_uc001xhh.4_Missense_Mutation_p.D502N|ZBTB1_uc010aqg.3_Missense_Mutation_p.D502N|ZBTB1_uc001xhi.2_Missense_Mutation_p.D502N|ZBTB1_uc021rum.1_5'Flank	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R501T(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CGAAATAAGAGATATGTTTGT	0.403000														51			25		0	0	0.000375601	0	0
EFHC1	114327	broad.mit.edu	37	6	52344018	52344018	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:52344018A>T	uc003pap.4	+	7	1677	c.1462A>T	c.(1462-1464)Agt>Tgt	p.S488C	EFHC1_uc011dwv.1_Missense_Mutation_p.S397C|EFHC1_uc011dww.2_Missense_Mutation_p.S469C	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	488	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CTATGGCCCCAGTGACTTCTT	0.433000														49			21		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179401091	179401091	+	Silent	SNP	A	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:179401091A>G	uc021vsy.1	-	305	92904	c.92679T>C	c.(92677-92679)ctT>ctC	p.L30893L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L24588L|TTN_uc021vta.1_Silent_p.L24521L|TTN_uc021vtb.1_Silent_p.L24396L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31820	Fibronectin type-III 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCGTATTCAAGACCTTCAA	0.393000														50			26		0	0	0.000878237	0	0
GPC6	10082	broad.mit.edu	37	13	94197591	94197591	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:94197591G>A	uc001vlt.3	+	1	868	c.236G>A	c.(235-237)aGc>aAc	p.S79N	GPC6_uc010tig.1_Missense_Mutation_p.S79N|GPC6_uc001vlu.1_Missense_Mutation_p.S9N	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	79						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.S79N(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGCCAACAAAGCAAACTCGAA	0.408000														50			19		0	0	0.000958276	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118097	118097	+	RNA	SNP	T	C	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrGL000205.1:118097T>C	uc002kgk.4	+	0		c.1475T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAATCTCATCTGCACTCCTCT	0.572000														24			3		0	0	0.000442599	0	0
FYTTD1	84248	broad.mit.edu	37	3	197505288	197505288	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:197505288C>T	uc003fyi.2	+	7	1030	c.811C>T	c.(811-813)Cct>Tct	p.P271S	FYTTD1_uc011bui.1_Missense_Mutation_p.P245S|FYTTD1_uc011buj.1_Non-coding_Transcript|FYTTD1_uc011buk.1_Missense_Mutation_p.P204S	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	271					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CAAGAAAGTTCCTAAAGGTGT	0.348000														28			14		0	0	0.000219431	0	0
SLC7A6	9057	broad.mit.edu	37	16	68308840	68308840	+	Silent	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:68308840C>T	uc002evt.2	+	3	524	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	SLC7A6_uc010cfb.2_Non-coding_Transcript|SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Silent_p.L71L|SLC7A6_uc010cfc.1_Non-coding_Transcript	NM_001076785	NP_003974	Q92536	YLAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA.	71					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CAAGGGTGTGCTGGTACACAC	0.552000														54			18		0	0	0.00074312	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032069	26032069	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:26032069C>T	uc003nfs.1	-	0	220	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	74					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.E74K(10)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGGGCGATTTCTCGCACCAGG	0.607000														68			27		0	0	0.000227799	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459181	45459181	+	RNA	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:45459181C>T	uc001rol.3	-	0		c.14G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCACTTTGCTCTGCACCTCAA	0.557000														3			6		0	0	3.59834e-05	0	0
DLGAP4	22839	broad.mit.edu	37	20	35075130	35075130	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:35075130G>A	uc002xff.3	+	6	1873	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	DLGAP4_uc010zvp.2_Missense_Mutation_p.E480K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	480					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGACCAGTATGAGGCGGCCTG	0.632000														9			6		0	0	3.59834e-05	0	0
GALNT13	114805	broad.mit.edu	37	2	154801150	154801150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:154801150G>A	uc002tyt.4	+	0	244	c.140G>A	c.(139-141)aGg>aAg	p.R47K	GALNT13_uc002tyr.4_Missense_Mutation_p.R47K	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	47						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCTGCATTGAGGGGTAAGTGC	0.403000														53			26		0	0	0.000279167	0	0
HYDIN	54768	broad.mit.edu	37	16	71163551	71163551	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:71163551C>T	uc002ezr.3	-	8	1370	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	HYDIN_uc010cfz.2_Missense_Mutation_p.E152K|HYDIN_uc021tkq.1_Missense_Mutation_p.E407K|HYDIN_uc010vmc.2_Missense_Mutation_p.E424K|HYDIN_uc010vmd.2_Missense_Mutation_p.E434K|HYDIN_uc002ezw.4_Missense_Mutation_p.E424K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	407										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)				ACCAGGGGCTCCACAGTGAAA	0.488000														8			6		0	0	0.000157383	0	0
UBC	7316	broad.mit.edu	37	12	125397415	125397415	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:125397415G>A	uc001ugs.4	-	1	1361	c.903C>T	c.(901-903)ctC>ctT	p.L301L	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Silent_p.L301L|UBC_uc001ugu.1_Silent_p.L301L|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Silent_p.L301L|UBC_uc001ugw.3_Silent_p.L149L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	301	Ubiquitin-like 4.				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)		TCCCACCTCTGAGACGGAGCA	0.532000														92			6		0	0	8.12818e-05	0	0
OR9G9	390174	broad.mit.edu	37	11	56468739	56468739	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:56468739G>A	uc010rjn.2	+	0	876	c.876G>A	c.(874-876)agG>agA	p.R292R	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										ACAGCCTAAGGAATAAGGATG	0.388000														42			17		0	0	0.00074312	0	0
GALNTL1	57452	broad.mit.edu	37	14	69795286	69795286	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:69795286G>A	uc001xlb.2	+	5	1015	c.688G>A	c.(688-690)Gag>Aag	p.E230K	GALNTL1_uc001xla.2_Missense_Mutation_p.E230K|GALNTL1_uc010aqu.2_Missense_Mutation_p.E230K	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	230						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GCGGGTGAAGGAGGTGAGCCA	0.632000														41			20		0	0	0.000229342	0	0
FBLN1	2192	broad.mit.edu	37	22	45960832	45960832	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:45960832C>T	uc003bgi.1	+	14	1913	c.1766C>T	c.(1765-1767)cCa>cTa	p.P589L	FBLN1_uc003bgj.1_Intron	NM_006485	NP_006476	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant B, mRNA.	0					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGGGTTCTTCCATGGAAGCAG	0.542000														28			11		0	0	0.000151284	0	0
THSD1P1	374500	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	G	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:52864001A>G	uc001vgm.1	-	1		c.157T>C								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		GAAAAAATAAAGCAATAGCTA	0.313000														19			3		0	0	0.00024832	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:92251698G>A	uc001xzu.4	-	10	1361	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000														158			62		0	0	0.000781405	0	0
GZF1	64412	broad.mit.edu	37	20	23349486	23349486	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:23349486C>T	uc010gdb.3	+	4	1721	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	GZF1_uc002wsy.3_Missense_Mutation_p.S516F|GZF1_uc010zsq.2_Missense_Mutation_p.S40F|GZF1_uc010zsr.2_Missense_Mutation_p.S25F|GZF1_uc002wsz.3_Missense_Mutation_p.S516F	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	516					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CATACTGGATCCAAACCCTTT	0.398000														31			16		0	0	0.000308642	0	0
DEPDC5	9681	broad.mit.edu	37	22	32200897	32200897	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:32200897C>T	uc011alu.2	+	16	1415	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	DEPDC5_uc011als.2_Missense_Mutation_p.H405Y|DEPDC5_uc003als.3_Missense_Mutation_p.H405Y|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.H405Y|DEPDC5_uc003alr.2_Missense_Mutation_p.H405Y|DEPDC5_uc011alt.2_Missense_Mutation_p.H377Y	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	405					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGGATAAACCACAGGTGGGT	0.428000														92			43		0	0	0.000680045	0	0
ATP11B	23200	broad.mit.edu	37	3	182545993	182545994	+	Missense_Mutation	DNP	TT	GA	GA			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:182545993_182545994TT>GA	uc003flb.3	+	2	487_488	c.230_231TT>GA	c.(229-231)gtt>gGA	p.V77G	ATP11B_uc003fla.3_Missense_Mutation_p.V77G	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	77					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATATTTTTGGTTCAGGTAAGCT	0.272000														56			21		0	0	6.4e-05	0	0
NLRP12	91662	broad.mit.edu	37	19	54314291	54314291	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:54314291C>T	uc002qcj.4	-	2	842	c.622G>A	c.(622-624)Gag>Aag	p.E208K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E208K|NLRP12_uc002qci.4_Missense_Mutation_p.E208K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E208K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	208					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.P207T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGCGGTGGCTCGGGGCGCTCC	0.647000														45			21		0	0	0.000720815	0	0
SSH1	54434	broad.mit.edu	37	12	109182005	109182005	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:109182005G>A	uc001tnm.3	-	14	2996	c.2909C>T	c.(2908-2910)tCt>tTt	p.S970F	SSH1_uc001tnl.3_Missense_Mutation_p.S658F	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	970	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGTGGGGAAGAGACGGTGAG	0.632000														115			52		0	0	0.000781405	0	0
HDAC4	9759	broad.mit.edu	37	2	240055964	240055964	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:240055964G>A	uc002vyk.4	-	10	2063	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	HDAC4_uc010fyz.1_Missense_Mutation_p.P419L|HDAC4_uc010zoa.1_Missense_Mutation_p.P419L|HDAC4_uc010fza.2_Missense_Mutation_p.P424L|HDAC4_uc010fyy.3_Missense_Mutation_p.P376L|HDAC4_uc010znz.1_Missense_Mutation_p.P307L|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	424					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGCTTGTGCCGGCGGCTGCTC	0.672000														13			5		0	0	8.12818e-05	0	0
DSG1	1828	broad.mit.edu	37	18	28909955	28909955	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:28909955C>T	uc002kwp.3	+	4	685	c.473C>T	c.(472-474)tCa>tTa	p.S158L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	158	Cadherin 1.				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)			CCAGTGTTTTCAATGGCTACA	0.433000														35			20		0	0	0.000175454	0	0
DNAH3	55567	broad.mit.edu	37	16	21071678	21071678	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:21071678C>T	uc010vbe.2	-	26	3721	c.3721_splice	c.e26-1	p.G1241_splice		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1241	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.?(2)		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)		CCACCATGCCCTATGGAGCAA	0.537000														91			43		0	0	0.000509022	0	0
CASS4	57091	broad.mit.edu	37	20	55033749	55033749	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:55033749G>A	uc002xxp.2	+	6	2532	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	CASS4_uc010zze.1_Silent_p.A715A|CASS4_uc002xxr.2_Silent_p.A769A|CASS4_uc010gio.2_Silent_p.A332A	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	769					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCTCCAGGCGGAGGCTGAGA	0.627000														21			4		0	0	3.59834e-05	0	0
ZP2	7783	broad.mit.edu	37	16	21209102	21209102	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:21209102C>T	uc010bwn.1	-	17	2252	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	ZP2_uc002dii.2_Missense_Mutation_p.E694K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	694					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAGCCAACCTCCTCCCCTGTT	0.468000														91			26		0	0	0.000279167	0	0
CCDC33	80125	broad.mit.edu	37	15	74627405	74627405	+	Silent	SNP	G	A	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:74627405G>A	uc002axo.3	+	17	2509	c.2115G>A	c.(2113-2115)tcG>tcA	p.S705S	CCDC33_uc002axp.3_Silent_p.S561S|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.S332S|CCDC33_uc002axr.3_Silent_p.S298S	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	908							protein binding	p.S705L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCACCCCTCGAACTCCATCA	0.587000														68			24		0	0	0.000586117	0	0
CALCRL	10203	broad.mit.edu	37	2	188225352	188225355	+	Frame_Shift_Del	DEL	AATG	-	-			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:188225352_188225355delAATG	uc010frt.3	-	8	1134_1137	c.751_754delCATT	c.(751-756)catttafs	p.H251fs	CALCRL_uc002upv.4_Frame_Shift_Del_p.H251fs	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	251						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TACCACATTAAATGTTGCTTCTCT	0.402													---	28	---	---	10	---