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
UGT2B10	7365	broad.mit.edu	37	4	69681930	69681930	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:69681930C>T	uc003hee.3	+	0	218	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	UGT2B10_uc011cam.2_Missense_Mutation_p.P65S	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	65					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCTTTTTGATCCCAACGACTC	0.368000														83			48		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798046	140798046	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140798046C>T	uc003lkn.2	+	0	787	c.620C>T	c.(619-621)gCt>gTt	p.A207V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.A207V|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	207	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGAGCGCTCACCACTTG	0.498000														57			12		0	0	0.00136819	0	0
CLIP1	6249	broad.mit.edu	37	12	122773082	122773082	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:122773082C>T	uc001ucg.2	-	20	3756	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K	CLIP1_uc001uch.1_Missense_Mutation_p.E1190K|CLIP1_uc001uci.1_Missense_Mutation_p.E1155K|CLIP1_uc001ucj.1_Missense_Mutation_p.E776K	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1201					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GATCTTTCTTCTTCCAGCTAG	0.378000														13			7		0	0	0.000157383	0	0
GBP4	115361	broad.mit.edu	37	1	89662941	89662941	+	Silent	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:89662941C>A	uc001dnb.3	-	1	203	c.87G>T	c.(85-87)gtG>gtT	p.V29V		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	29						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTGGTTTTCCACTAGACAAA	0.438000														46			17		7.07596e-05	0.000284094	0.00074312	1	0
SALL3	27164	broad.mit.edu	37	18	76754751	76754751	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:76754751G>A	uc002lmt.3	+	1	2760	c.2760G>A	c.(2758-2760)ccG>ccA	p.P920P	SALL3_uc010dra.3_Silent_p.P527P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCAAGTCCCCGGGCCTGGGCG	0.766000														9			9		0	0	0.000673444	0	0
CHRM2	1129	broad.mit.edu	37	7	136700068	136700068	+	Silent	SNP	C	T	T	rs148163637	by1000genomes	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:136700068C>T	uc003vtf.1	+	3	1079	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CHRM2_uc003vtg.1_Silent_p.F152F|CHRM2_uc003vti.1_Silent_p.F152F|CHRM2_uc003vtm.1_Silent_p.F152F|CHRM2_uc003vtj.1_Silent_p.F152F|CHRM2_uc003vtk.1_Silent_p.F152F|CHRM2_uc003vtl.1_Silent_p.F152F|CHRM2_uc003vtn.1_Silent_p.F152F|CHRM2_uc003vto.1_Silent_p.F152F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.F152F	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	152					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCCTCTCTTTCATCCTCTGGG	0.498000														91			50		0	0	0.000781405	0	0
CAGE1	285782	broad.mit.edu	37	6	7365709	7365709	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:7365709C>T	uc003mxl.2	-	8	2716	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.D566N|CAGE1_uc003mxj.3_Missense_Mutation_p.D484N|CAGE1_uc003mxk.2_Missense_Mutation_p.D729N	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	702										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ACCAAGAAATCAAGCTCCTCA	0.358000														39			16		0	0	0.000308642	0	0
METTL4	64863	broad.mit.edu	37	18	2554989	2554989	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:2554989G>A	uc002klh.4	-	3	1288	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	METTL4_uc010dkj.3_5'UTR	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	170					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCACTTTTGAGACCTTCCTGG	0.363000														160			95		0	0	0.000781405	0	0
HDAC1	3065	broad.mit.edu	37	1	32796199	32796199	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:32796199G>A	uc001bvb.1	+	7	813	c.750G>A	c.(748-750)gaG>gaA	p.E250E	HDAC1_uc010ohf.1_Silent_p.E221E|HDAC1_uc001bvc.1_Silent_p.E6E	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	Homo sapiens histone deacetylase 1 (HDAC1), mRNA.	250	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	NuRD complex|Sin3 complex|cytosol	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	AAGTAATGGAGATGTTCCAGC	0.478000														114			33		0	0	0.00111076	0	0
ABCA13	154664	broad.mit.edu	37	7	48335455	48335456	+	Missense_Mutation	DNP	GT	TG	TG			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:48335455_48335456GT>TG	uc003toq.2	+	20	9138_9139	c.9114_9115GT>TG	c.(9112-9117)ttgtac>ttTGac	p.3038_3039LY>FD	ABCA13_uc010kys.1_Missense_Mutation_p.112_113LY>FD	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3038					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCAGCACTTGTACATGTATGC	0.485000														202			85		0	0	6.4e-05	0	0
OR13F1	138805	broad.mit.edu	37	9	107267446	107267446	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:107267446G>A	uc011lvm.2	+	0	903	c.903G>A	c.(901-903)ttG>ttA	p.L301L		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A300S(2)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGTGGCCTTGAAAAAATTGC	0.363000														39			55		0	0	0.000781405	0	0
DPY19L4	286148	broad.mit.edu	37	8	95778849	95778850	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:95778849_95778850CC>AA	uc003ygx.2	+	10	1235_1236	c.1111_1112CC>AA	c.(1111-1113)cca>AAa	p.P371K		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	371						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)					GATGTTTGTCCCACACAAAGAA	0.322000														658			14		0	0	6.4e-05	0	0
MYF5	4617	broad.mit.edu	37	12	81111198	81111198	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:81111198C>T	uc001szg.2	+	0	491	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	119	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CAGAGGCTGCCCAAGGTGGAG	0.587000														37			14		0	0	0.00244969	0	0
TTC12	54970	broad.mit.edu	37	11	113220815	113220815	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:113220815C>T	uc001pnv.3	+	13	1298	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	TTC12_uc001pnu.3_Missense_Mutation_p.S392L|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.S242L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	392							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCGCTGGTGTCATTTCTTGAT	0.413000														57			21		0	0	0.00229938	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088607	65088607	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:65088607G>A	uc021qli.1	+	0	238	c.238G>A	c.(238-240)Gac>Aac	p.D80N	CDC42EP2_uc001odl.3_Missense_Mutation_p.D80N	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	80					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TGGCACCTTCGACCTCCCCTT	0.647000														12			22		0	0	0.00152264	0	0
GDF3	9573	broad.mit.edu	37	12	7848116	7848116	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:7848116A>G	uc001qte.3	-	0	245	c.209T>C	c.(208-210)tTa>tCa	p.L70S		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	70					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TACGTAGCATAAGTCTCGGGA	0.507000														40			12		0	0	0.00185496	0	0
HMBS	3145	broad.mit.edu	37	11	118960443	118960443	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:118960443C>T	uc001puz.1	+	5	474	c.317C>T	c.(316-318)cCt>cTt	p.P106L	HMBS_uc009zao.2_Missense_Mutation_p.P51L|HMBS_uc001pva.1_Missense_Mutation_p.P106L|HMBS_uc001pve.1_Missense_Mutation_p.P89L|HMBS_uc001pvf.1_Missense_Mutation_p.P89L	NM_000190	NP_001019553	P08397	HEM3_HUMAN	Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.	106					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GTGCTTCCTCCTGGCTTCACC	0.557000														4			12		0	0	0.000566183	0	0
DSG3	1830	broad.mit.edu	37	18	29041278	29041278	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:29041278G>A	uc002kws.3	+	7	1011	c.902G>A	c.(901-903)tGg>tAg	p.W301*		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	301	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.N300D(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGATAATTGGCTTGCAGTA	0.348000														38			30		0	0	0.00106085	0	0
HJURP	55355	broad.mit.edu	37	2	234752853	234752853	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:234752853G>T	uc002vvg.3	-	6	638	c.572C>A	c.(571-573)cCc>cAc	p.P191H	HJURP_uc010znd.2_Missense_Mutation_p.P130H|HJURP_uc010zne.2_Missense_Mutation_p.P99H	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	191					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACACTCACCGGGGGCAGGCAC	0.557000														43			30		1.74807e-11	7.09782e-11	0.00209593	1	0
RP1	6101	broad.mit.edu	37	8	55540055	55540055	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:55540055C>T	uc003xsd.1	+	3	3761	c.3613C>T	c.(3613-3615)Cca>Tca	p.P1205S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1205					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)			AGACATGGTTCCAATAGATCT	0.423000														82			71		0	0	0.000781405	0	0
FYB	2533	broad.mit.edu	37	5	39119083	39119083	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:39119083G>A	uc003jls.3	-	13	2223	c.2156C>T	c.(2155-2157)tCt>tTt	p.S719F	FYB_uc003jlt.3_Missense_Mutation_p.S765F|FYB_uc003jlu.3_Missense_Mutation_p.S719F|FYB_uc011cpl.2_Missense_Mutation_p.S775F	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	719					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCACTTTTTAGAAGTTATGGA	0.313000														33			9		0	0	0.000274275	0	0
A2M	2	broad.mit.edu	37	12	9232411	9232411	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:9232411C>T	uc001qvk.1	-	24	2968	c.2855_splice	c.e24-1	p.G952_splice	A2M_uc009zgk.1_Splice_Site_p.G802_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	952					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TAATATGTCTCCTAGAGAATG	0.388000														7			12		0	0	0.000308642	0	0
ARID2	196528	broad.mit.edu	37	12	46230632	46230632	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:46230632G>A	uc001ros.1	+	7	881	c.881G>A	c.(880-882)aGa>aAa	p.R294K	ARID2_uc001ror.3_Missense_Mutation_p.R294K|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	294					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTGATTTTGAGAAATCTTTCC	0.403000			"""N, S, F"""		hepatocellular carcinoma									66			25		0	0	0.000720815	0	0
ABCB5	340273	broad.mit.edu	37	7	20683112	20683112	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:20683112G>A	uc010kuh.3	+	6	772	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	365					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGATGGTATTGGAGATAAGAT	0.378000														186			28		0	0	0.0024448	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133272	42133272	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:42133272G>A	uc010xwd.1	-	0	171	c.60C>T	c.(58-60)atC>atT	p.I20I	CEACAM4_uc002orh.1_Silent_p.I20I	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	20						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCTCACCTGTGATCAGGAGCC	0.662000														14			8		0	0	0.000274275	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934644	49934645	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:49934644_49934645GG>AA	uc002pnp.3	-	9	1383_1384	c.1211_1212CC>TT	c.(1210-1212)gcc>gTT	p.A404V	SLC17A7_uc002pno.3_Intron	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	404					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGAAGGAGATGGCCACGCCCTT	0.668000														51			12		0	0	6.4e-05	0	0
VWA5A	4013	broad.mit.edu	37	11	123988472	123988472	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:123988472C>T	uc001pzu.3	+	3	345	c.136C>T	c.(136-138)Cct>Tct	p.P46S	VWA5A_uc001pzr.3_Missense_Mutation_p.P46S|VWA5A_uc001pzs.3_Missense_Mutation_p.P46S|VWA5A_uc010sae.2_Missense_Mutation_p.P62S|VWA5A_uc001pzt.3_Missense_Mutation_p.P46S	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	46	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGAGAAAGTTCCTTTGGAGGC	0.458000														12			53		0	0	0.000781405	0	0
GCK	2645	broad.mit.edu	37	7	44191917	44191918	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:44191917_44191918GG>AA	uc003tkl.2	-	2	785_786	c.315_316CC>TT	c.(313-318)caccag>caTTag	p.Q106*	GCK_uc003tkj.1_Nonsense_Mutation_p.Q105*|GCK_uc003tkk.1_Nonsense_Mutation_p.Q107*	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	106					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GAGTACATCTGGTGTTTGGTCT	0.634000														357			175		0	0	6.4e-05	0	0
APBB2	323	broad.mit.edu	37	4	40936716	40936716	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:40936716C>T	uc003gvn.3	-	9	1738	c.1108_splice	c.e9-1	p.D370_splice	APBB2_uc010ifu.3_Splice_Site|APBB2_uc003gvl.3_Splice_Site_p.D369_splice|APBB2_uc003gvm.3_Splice_Site_p.D348_splice|APBB2_uc011byt.1_Splice_Site_p.D331_splice	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	369					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCATGCAAATCCTAGAGGAAA	0.448000														28			11		0	0	0.000978159	0	0
COBL	23242	broad.mit.edu	37	7	51096349	51096349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:51096349G>A	uc003tps.3	-	10	2800	c.2615C>T	c.(2614-2616)tCg>tTg	p.S872L	COBL_uc003tpr.4_Missense_Mutation_p.S815L|COBL_uc011kcl.2_Missense_Mutation_p.S815L|COBL_uc003tpp.4_Missense_Mutation_p.S601L|COBL_uc003tpq.4_Missense_Mutation_p.S756L|COBL_uc003tpo.4_Missense_Mutation_p.S357L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	815										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGCTGGGGCGATATTGGCTT	0.657000														49			17		0	0	0.000566183	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969345	140969345	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:140969345G>A	uc011mwp.2	+	3	672	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	224	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTCCTATGATCTTCAGGA	0.433000														16			84		0	0	0.000781405	0	0
LMF2	91289	broad.mit.edu	37	22	50945081	50945081	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:50945081G>A	uc003blp.2	-	2	394	c.363C>T	c.(361-363)ttC>ttT	p.F121F	LMF2_uc003blo.2_Silent_p.F96F|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	121						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAATAAAGGAACACCTGGC	0.652000														41			22		0	0	0.00106085	0	0
LILRB3	11025	broad.mit.edu	37	19	54803746	54803746	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:54803746G>A	uc002qfd.3	-	2	170	c.78C>T	c.(76-78)ctC>ctT	p.L26L	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.L26L	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	26					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTTGGGGAGGGGCCCTG	0.592000														37			27		0	0	0.00209593	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607212	84607212	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:84607212C>T	uc004amn.3	+	3	1874	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	609						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TTCATAGACCCCAGAACGAGG	0.498000														43			50		0	0	0.000781405	0	0
FLG	2312	broad.mit.edu	37	1	152285396	152285396	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:152285396C>T	uc001ezu.1	-	2	2002	c.1966G>A	c.(1966-1968)Ggc>Agc	p.G656S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	656	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)			TGTCTGGAGCCATCTCTTGAC	0.547000									Ichthyosis					36			299		0	0	0.000781405	0	0
ZNF418	147686	broad.mit.edu	37	19	58437580	58437580	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:58437580G>A	uc002qqs.1	-	3	2261	c.1969C>T	c.(1969-1971)Cat>Tat	p.H657Y	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.H572Y	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAGCTTCGATGAAATGATTTT	0.413000														62			17		0	0	0.00188189	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455305	70455305	+	Nonsense_Mutation	SNP	G	A	A	rs139303872	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:70455305G>A	uc011caq.2	-	6	1983	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*	UGT2A1_uc010ihu.3_Nonsense_Mutation_p.R457*|UGT2A1_uc003hem.4_Nonsense_Mutation_p.R457*|UGT2A1_uc010ihs.3_Nonsense_Mutation_p.R466*|UGT2A1_uc021xox.1_Nonsense_Mutation_p.R422*|UGT2A1_uc010iht.3_Nonsense_Mutation_p.R413*	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.R457*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGACTGCTCGATCCAGGGGC	0.448000														74			61		0	0	0.000781405	0	0
ACTN2	88	broad.mit.edu	37	1	236920792	236920792	+	Missense_Mutation	SNP	C	T	T	rs149433837	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:236920792C>T	uc001hyf.2	+	17	2365	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	ACTN2_uc001hyg.2_Missense_Mutation_p.R513C|ACTN2_uc009xgi.1_Missense_Mutation_p.R721C|ACTN2_uc010pxu.1_Missense_Mutation_p.R410C	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	721					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATAGCACATTCGTGTTGGATG	0.502000														14			64		0	0	0.000781405	0	0
LRGUK	136332	broad.mit.edu	37	7	133943125	133943126	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:133943125_133943126CC>TT	uc003vrm.1	+	18	2331_2332	c.2315_2316CC>TT	c.(2314-2316)gcc>gTT	p.A772V		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	772							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGATCAGGAGCCAGTGACAGTG	0.535000														38			49		0	0	6.4e-05	0	0
AKAP11	11215	broad.mit.edu	37	13	42877958	42877958	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:42877958C>T	uc001uys.2	+	7	5251	c.5076C>T	c.(5074-5076)acC>acT	p.T1692T		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1692					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CCACAGAAACCATGACAGCAG	0.463000														60			16		0	0	0.00074312	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769536	140769536	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140769536C>T	uc003lkc.2	+	0	2085	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	699					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCTTGGCCTTGATCTCAG	0.632000														131			29		0	0	0.00106085	0	0
LRRC24	441381	broad.mit.edu	37	8	145748575	145748576	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:145748575_145748576CC>TT	uc003zdm.3	-	4	957_958	c.825_826GG>AA	c.(823-828)gaggac>gaAAac	p.D276N	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	276	Ig-like C2-type.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	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)			ACCCGCAGGTCCTCACCCAGGT	0.678000														30			6		0	0	6.4e-05	0	0
SCP2	6342	broad.mit.edu	37	1	53443971	53443971	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:53443971G>A	uc001cur.2	+	8	925	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	SCP2_uc010ono.2_Missense_Mutation_p.E172K|SCP2_uc010onp.2_Missense_Mutation_p.E229K|SCP2_uc009vzi.2_Missense_Mutation_p.E209K|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Missense_Mutation_p.E209K	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	253					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAAAGCTGTGGAAATTTTGGC	0.368000														46			18		0	0	0.00121646	0	0
IQUB	154865	broad.mit.edu	37	7	123150081	123150081	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:123150081C>A	uc003vkn.3	-	2	983	c.406G>T	c.(406-408)Gta>Tta	p.V136L	IQUB_uc003vko.3_Missense_Mutation_p.V136L|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.V136L|IQUB_uc003vkq.2_Missense_Mutation_p.V136L	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	136	Ubiquitin-like.							p.V135F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGAATAAGTACAACTTTTACT	0.308000														196			82		2.43516e-34	9.96287e-34	0.000781405	1	0
ZNF211	10520	broad.mit.edu	37	19	58153489	58153489	+	Silent	SNP	C	T	T	rs138875681		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:58153489C>T	uc002qpr.2	+	5	2130	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	ZNF211_uc010yhb.1_Silent_p.S549S|ZNF211_uc002qpp.2_Silent_p.S558S|ZNF211_uc002qpq.2_Silent_p.S545S|ZNF211_uc002qpt.2_Silent_p.S557S|ZNF211_uc010yhc.1_Silent_p.S557S|ZNF211_uc010yhe.1_Silent_p.S536S|ZNF211_uc010yhd.1_Silent_p.S484S	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	545						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGAAATCCTTTGGCTGCA	0.418000														73			29		0	0	0.00283554	0	0
CASP3	836	broad.mit.edu	37	4	185552973	185552973	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:185552973G>A	uc003iwh.3	-	5	692	c.429C>T	c.(427-429)ttC>ttT	p.F143F	CASP3_uc003iwg.3_Silent_p.F143F|CASP3_uc003iwi.3_Silent_p.F143F	NM_004346	NP_116786	P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	143					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	p.F143S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GATCCCCTCTGAAAAAGTTTG	0.373000														56			62		0	0	0.000781405	0	0
ABCC2	1244	broad.mit.edu	37	10	101578963	101578963	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:101578963G>A	uc001kqf.2	+	18	2696	c.2557G>A	c.(2557-2559)Gga>Aga	p.G853R		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	853	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCCAAAAAAGGAGAGTTTGC	0.438000														12			51		0	0	0.000781405	0	0
GLI3	2737	broad.mit.edu	37	7	42005858	42005859	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:42005858_42005859CC>TT	uc011kbh.2	-	14	2903_2904	c.2812_2813GG>AA	c.(2812-2814)gga>AAa	p.G938K	GLI3_uc011kbg.2_Missense_Mutation_p.G879K	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	938					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T937T(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGGCGGCCCTCCTGTGGCAGCC	0.723000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					30			20		0	0	6.4e-05	0	0
COL5A1	1289	broad.mit.edu	37	9	137707809	137707809	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:137707809G>A	uc004cfe.3	+	51	4479	c.4097G>A	c.(4096-4098)gGa>gAa	p.G1366E		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1366	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTGACAAAGGAGATGATGGT	0.567000														22			19		0	0	0.00152264	0	0
IQSEC2	23096	broad.mit.edu	37	X	53277939	53277939	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:53277939C>T	uc004dsd.3	-	5	2624	c.2423G>A	c.(2422-2424)gGg>gAg	p.G808E	IQSEC2_uc004dsc.3_Missense_Mutation_p.G603E	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	798	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.Q808H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTGCCGGTTCCCTAGGAATTC	0.602000														3			25		0	0	0.00127121	0	0
RNF103	7844	broad.mit.edu	37	2	86832146	86832146	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:86832146G>A	uc002srn.3	-	3	1869	c.878C>T	c.(877-879)cCt>cTt	p.P293L	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.P154L|RNF103_uc021vkg.1_Missense_Mutation_p.P289L|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	293					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AATTCCTTCAGGAGTTCTAAG	0.358000														45			5		0	0	0.00116845	0	0
MXRA5	25878	broad.mit.edu	37	X	3243014	3243014	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:3243014T>A	uc004crg.4	-	4	869	c.712A>T	c.(712-714)Att>Ttt	p.I238F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	238	LRRCT.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTTCAGAATTCCTAAAACA	0.398000														1			13		0	0	0.00244969	0	0
OR8B3	390271	broad.mit.edu	37	11	124266884	124266884	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:124266884G>A	uc010saj.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCCACATAGCGATCATATGCC	0.408000														2			10		0	0	0.000442599	0	0
LOC650368	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:3427765G>C	uc010qxs.1	+	8		c.758G>C			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CACACGTCCTGCAGTGGCCTG	0.602000														26			4		0	0	0.00024832	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239119	24239119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:24239119C>T	uc002reo.2	+	2	330	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	106					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CAACAGGAGCCAGAGGACAGG	0.592000														16			11		0	0	0.00185496	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816651	67816651	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:67816651C>T	uc001one.3	+	14	1906	c.1777C>T	c.(1777-1779)Ctg>Ttg	p.L593L	TCIRG1_uc001ong.3_Silent_p.L377L|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	593					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CTACAAGTGGCTGTGTGTCTG	0.607000														10			66		0	0	0.000781405	0	0
ACACB	32	broad.mit.edu	37	12	109660625	109660625	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:109660625C>T	uc001tob.3	+	25	3819	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	ACACB_uc001toc.3_Missense_Mutation_p.P1234S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1234					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTCCCACCTCCCCTCCTACGA	0.647000														21			9		0	0	0.00244969	0	0
PDZD2	23037	broad.mit.edu	37	5	32088933	32088933	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:32088933C>T	uc003jhl.3	+	19	5767	c.5379C>T	c.(5377-5379)atC>atT	p.I1793I	PDZD2_uc003jhm.3_Silent_p.I1793I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1793					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.I1793I(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAAAAATGATCGCTAGGAGGC	0.428000														25			47		0	0	0.000680045	0	0
STON2	85439	broad.mit.edu	37	14	81743686	81743687	+	Missense_Mutation	DNP	GG	AA	AA	rs143151987		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:81743686_81743687GG>AA	uc010tvu.2	-	3	2166_2167	c.1968_1969CC>TT	c.(1966-1971)ttccac>ttTTac	p.H657Y	STON2_uc001xvk.1_Missense_Mutation_p.H657Y|STON2_uc010tvt.2_Missense_Mutation_p.H454Y	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	657	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CGTGAGTTGTGGAAAACATCCT	0.495000														22			6		0	0	6.4e-05	0	0
PLVAP	83483	broad.mit.edu	37	19	17476173	17476173	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:17476173C>T	uc002ngk.1	-	2	1141	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	367						caveola|integral to membrane|perinuclear region of cytoplasm		p.E367Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCTCTTCTTCTCTTCCAGCT	0.617000														65			23		0	0	0.000720815	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138519	42138519	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:42138519C>T	uc001zoo.4	+	21	2452	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	JMJD7-PLA2G4B_uc010bcn.3_Silent_p.F804F|JMJD7-PLA2G4B_uc001zoq.4_Silent_p.F274F|JMJD7-PLA2G4B_uc010bco.3_Silent_p.F573F|JMJD7-PLA2G4B_uc001zor.1_3'UTR	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	573					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CACATAATTTCCTGCGTGGCC	0.517000														50			69		0	0	0.000781405	0	0
ATP2A3	489	broad.mit.edu	37	17	3844304	3844304	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:3844304G>A	uc002fwy.2	-	13	2234	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	ATP2A3_uc002fwz.2_Silent_p.I687I|ATP2A3_uc002fxa.2_Silent_p.I687I|ATP2A3_uc002fxb.2_Silent_p.I687I|ATP2A3_uc002fxc.2_Silent_p.I687I|ATP2A3_uc002fxd.2_Silent_p.I687I|ATP2A3_uc002fwx.2_Silent_p.I687I	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	687					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.R686C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTTCTCCACGATGCGGGACT	0.667000														66			12		0	0	0.00244969	0	0
FSHR	2492	broad.mit.edu	37	2	49295379	49295379	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:49295379C>T	uc002rww.3	-	1	313	c.203G>A	c.(202-204)gGa>gAa	p.G68E	FSHR_uc010fbn.3_Missense_Mutation_p.G68E|FSHR_uc002rwx.3_Missense_Mutation_p.G68E|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	68					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.S67L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GTCCCCAAATCCTGAAAATGC	0.428000									Gonadal Dysgenesis, 46 XX					73			17		0	0	0.00278032	0	0
CACNA1S	779	broad.mit.edu	37	1	201046244	201046244	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:201046244G>A	uc001gvv.3	-	11	1858	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	544					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTTGCTCAGCGACGTCCAATA	0.607000														4			61		0	0	0.000781405	0	0
CPXM2	119587	broad.mit.edu	37	10	125601889	125601889	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:125601889G>A	uc001lhk.1	-	3	954	c.629C>T	c.(628-630)aCt>aTt	p.T210I	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	210	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTCCCTTGAGTGATGACACC	0.522000														9			43		0	0	0.000781405	0	0
FAM83E	54854	broad.mit.edu	37	19	49116419	49116419	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:49116419C>T	uc002pjn.2	-	0	276	c.211G>A	c.(211-213)Gct>Act	p.A71T		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	71										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CAGTCTTCAGCTGCCGCTGCC	0.667000														24			21		0	0	0.000720815	0	0
DMXL2	23312	broad.mit.edu	37	15	51792261	51792261	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:51792261T>G	uc010ufy.2	-	17	3385	c.3160A>C	c.(3160-3162)Atg>Ctg	p.M1054L	DMXL2_uc002abf.3_Missense_Mutation_p.M1054L|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1054						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCATCATTCATCAAAGGCCAT	0.403000														32			10		0	0	0.000442599	0	0
ARID5B	84159	broad.mit.edu	37	10	63851157	63851157	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:63851157C>T	uc001jlt.2	+	9	2391	c.1935C>T	c.(1933-1935)acC>acT	p.T645T	ARID5B_uc001jlu.2_Silent_p.T402T	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	645					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCAAGCAGACCCCAAAGGTCC	0.532000														4			12		0	0	0.000978159	0	0
SP100	6672	broad.mit.edu	37	2	231406069	231406069	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:231406069C>T	uc002vqu.1	+	26	2526	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	SP100_uc010fxp.1_Silent_p.F113F	NM_001080391	NP_001073860	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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)		GCTGCTTTTTCGCCTCAGAAC	0.388000														21			28		0	0	0.0024448	0	0
ATP1A3	478	broad.mit.edu	37	19	42471363	42471364	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:42471363_42471364CC>TT	uc002osh.3	-	21	3204_3205	c.3050_3051GG>AA	c.(3049-3051)ggg>gAA	p.G1017E	ATP1A3_uc010xwf.2_Intron|ATP1A3_uc010xwg.2_Intron|ATP1A3_uc002osg.3_Intron|ATP1A3_uc010xwh.2_Intron			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	0					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ACCCTGCTGCCCCCCGCCCCCC	0.644000														18			6		0	0	6.4e-05	0	0
ROBO1	6091	broad.mit.edu	37	3	78667155	78667155	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:78667155C>T	uc003dqe.2	-	26	4120	c.3912G>A	c.(3910-3912)ccG>ccA	p.P1304P	ROBO1_uc003dqc.2_Silent_p.P1204P|ROBO1_uc003dqd.2_Silent_p.P1259P|ROBO1_uc003dqb.2_Silent_p.P1265P|ROBO1_uc010hoh.2_Silent_p.P496P|ROBO1_uc011bgl.1_Silent_p.P876P	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1304					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGGGGAGATCGGCCGTGGTG	0.493000														10			50		0	0	0.000781405	0	0
SALL3	27164	broad.mit.edu	37	18	76754784	76754784	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:76754784C>T	uc002lmt.3	+	1	2793	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	SALL3_uc010dra.3_Silent_p.I538I	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAGGAAATCCCGCTCAAGA	0.746000														10			3		0	0	6.4e-05	0	0
MTMR8	55613	broad.mit.edu	37	X	63551549	63551549	+	Missense_Mutation	SNP	G	A	A	rs139002441	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:63551549G>A	uc004dvs.3	-	10	1330	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	MTMR8_uc011mou.2_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	414	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AAGGCACAGGGAAACTGTTCC	0.463000														7			23		0	0	0.00278032	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														48			5		0	0	0.00116845	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607900	7607900	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:7607900C>T	uc010xjq.2	+	14	1805	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	PNPLA6_uc002mgq.2_Missense_Mutation_p.S474F|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.S474F|PNPLA6_uc002mgs.3_Missense_Mutation_p.S513F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	513					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGGACCCCTCCCTCCTGAAC	0.657000														16			20		0	0	0.00121646	0	0
C11orf63	79864	broad.mit.edu	37	11	122775096	122775096	+	Missense_Mutation	SNP	A	T	T	rs145494873		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:122775096A>T	uc001pym.3	+	2	1105	c.808A>T	c.(808-810)Acg>Tcg	p.T270S	C11orf63_uc001pyl.1_Missense_Mutation_p.T270S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	270										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CACCCCGAAAACGGACTCTTA	0.433000														43			144		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	8993038	8993038	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:8993038G>A	uc002mkp.3	-	66	41925	c.41721C>T	c.(41719-41721)ttC>ttT	p.F13907F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.F724F|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13910	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCGATGGGTGAAACCTGCAC	0.527000														51			12		0	0	0.000422831	0	0
MAP3K9	4293	broad.mit.edu	37	14	71204984	71204985	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:71204984_71204985CC>TT	uc001xmm.3	-	7	1821_1822	c.1821_1822GG>AA	c.(1819-1824)aaggag>aaAAag	p.E608K	MAP3K9_uc010ttk.2_Missense_Mutation_p.E345K|MAP3K9_uc001xmk.3_Missense_Mutation_p.E350K|MAP3K9_uc001xml.3_Missense_Mutation_p.E608K	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	608					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCAAGCTCCTTCTGACCAA	0.510000														39			22		0	0	6.4e-05	0	0
DNAH10	196385	broad.mit.edu	37	12	124285934	124285934	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:124285934C>T	uc001uft.4	+	14	2240	c.2215C>T	c.(2215-2217)Cga>Tga	p.R739*	DNAH10_uc010tav.1_Nonsense_Mutation_p.R281*|DNAH10_uc010taw.1_Nonsense_Mutation_p.R224*	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	739	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAACTGCTCCGAGTGTTTAG	0.433000														58			23		0	0	0.00229938	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262129	36262129	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:36262129G>A	uc010jwf.2	+	3	667	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PNPLA1_uc010jwe.1_Missense_Mutation_p.E137K|PNPLA1_uc003olw.1_Missense_Mutation_p.E128K	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	223					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GTTCTCCCTGGAGAACATCGC	0.612000														70			40		0	0	0.000680045	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960632	33960633	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:33960632_33960633CC>TT	uc001bxj.4	+	7	2855_2856	c.2688_2689CC>TT	c.(2686-2691)atccat>atTTat	p.H897Y	ZSCAN20_uc009vui.3_Missense_Mutation_p.H896Y	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	897					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACCAAAGAATCCATACGGGAGA	0.500000														78			32		0	0	6.4e-05	0	0
SLC39A5	283375	broad.mit.edu	37	12	56629484	56629484	+	Splice_Site	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:56629484A>T	uc010sqj.2	+	8	1202	c.945_splice	c.e8+1	p.P315_splice	SLC39A5_uc010sqi.2_Silent_p.P206P|SLC39A5_uc010sqk.2_Splice_Site_p.P315_splice	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	315					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTCAGGCCAGTGAGTGATA	0.622000														75			67		0	0	0.000781405	0	0
TDP2	51567	broad.mit.edu	37	6	24654655	24654655	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:24654655G>A	uc003nej.3	-	4	646	c.621C>T	c.(619-621)aaC>aaT	p.N207N	TDP2_uc010jpu.1_Silent_p.N207N	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	207					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CACATAAAAGGTTTCTCATCA	0.264000								Direct reversal of damage						76			16		0	0	0.000958276	0	0
B4GALT4	8702	broad.mit.edu	37	3	118937547	118937547	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:118937547G>A	uc003ecg.3	-	5	1388	c.747C>T	c.(745-747)ttC>ttT	p.F249F	B4GALT4_uc003ece.1_Silent_p.F249F|B4GALT4_uc003ech.3_Silent_p.F249F|B4GALT4_uc003eci.3_Silent_p.F249F|B4GALT4_uc011biy.1_Intron	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	249					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AGTTGTTAGAGAATCCATTCA	0.498000														75			24		0	0	0.00047179	0	0
HEPH	9843	broad.mit.edu	37	X	65476031	65476031	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:65476031C>T	uc011moz.2	+	16	3054	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	HEPH_uc004dwn.3_Missense_Mutation_p.R922W|HEPH_uc004dwo.3_Missense_Mutation_p.R652W|HEPH_uc010nkr.3_Missense_Mutation_p.R730W|HEPH_uc011mpa.2_Missense_Mutation_p.R922W|HEPH_uc010nks.3_Missense_Mutation_p.R211W	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	919	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGACATGGATCGGGAATTTGC	0.493000														6			38		0	0	0.00148497	0	0
MYO7A	4647	broad.mit.edu	37	11	76909646	76909646	+	Silent	SNP	C	T	T	rs111033259		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:76909646C>T	uc001oyb.2	+	33	4820	c.4548C>T	c.(4546-4548)atC>atT	p.I1516I	MYO7A_uc010rsm.1_Silent_p.I1505I|MYO7A_uc001oyc.2_Silent_p.I1516I|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.I727I	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1516	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCAGAGATCATGGCCGTGT	0.602000														5			15		0	0	0.000308642	0	0
ERLEC1	27248	broad.mit.edu	37	2	54041733	54041733	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:54041733C>T	uc002rxl.3	+	11	1560	c.1280C>T	c.(1279-1281)cCa>cTa	p.P427L	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Intron|ERLEC1_uc002rxn.3_Missense_Mutation_p.P373L	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	427					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACTGACAAACCAAGACAGGTG	0.323000														15			7		0	0	0.000442599	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662112	57662112	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:57662112G>A	uc009zpm.1	-	15	1997	c.1962C>T	c.(1960-1962)atC>atT	p.I654I	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.I349I|R3HDM2_uc001snr.2_Silent_p.I381I|R3HDM2_uc001sns.2_Silent_p.I654I|R3HDM2_uc001snt.2_Silent_p.I668I	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	654	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCAGGTGGGATCATGCTAT	0.567000														33			12		0	0	0.00185496	0	0
ACTL9	284382	broad.mit.edu	37	19	8808716	8808716	+	Silent	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:8808716T>C	uc002mkl.2	-	0	457	c.336A>G	c.(334-336)caA>caG	p.Q112Q		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	112						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGCGCAGGGGTTGCACCAGCG	0.706000														21			9		0	0	0.000274275	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801385	200801385	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:200801385G>A	uc001gvl.3	+	5	1006	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	CAMSAP2_uc001gvk.3_Missense_Mutation_p.E235K|CAMSAP2_uc001gvm.3_Missense_Mutation_p.E235K	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	246	CH.					cytoplasm|microtubule	protein binding										TCCATTGGTAGAAAATTTGTT	0.368000														37			23		0	0	0.00278032	0	0
ECT2	1894	broad.mit.edu	37	3	172486801	172486801	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:172486801C>T	uc003fii.2	+	11	1341	c.1203C>T	c.(1201-1203)acC>acT	p.T401T	ECT2_uc010hwv.1_Silent_p.T432T|ECT2_uc003fih.2_Silent_p.T400T|ECT2_uc003fij.1_Silent_p.T401T|ECT2_uc003fik.1_Silent_p.T401T|ECT2_uc003fil.1_Silent_p.T432T	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	401					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTTCAGACACCCCAAAGTCTT	0.363000														41			24		0	0	0.00047179	0	0
CNTROB	116840	broad.mit.edu	37	17	7850948	7850949	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7850948_7850949CC>TT	uc002gjp.3	+	14	3003_3004	c.2053_2054CC>TT	c.(2053-2055)cct>TTt	p.P685F	CNTROB_uc002gjq.3_Missense_Mutation_p.P685F|CNTROB_uc002gjr.3_Missense_Mutation_p.P587F	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	685	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGGCCATTCCCTGAGGAAGAT	0.559000														73			29		0	0	6.4e-05	0	0
TCRA	0	broad.mit.edu	37	14	22447109	22447109	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:22447109C>T	uc010tmm.2	+	1	282	c.90C>T	c.(88-90)gtC>gtT	p.V30V	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		ACAGCCAAGTCCCTGTCTTTG	0.468000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			36		0	0	0.00128727	0	0
C10orf96	374355	broad.mit.edu	37	10	118101634	118101634	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:118101634G>A	uc001lck.3	+	4	620	c.369G>A	c.(367-369)aaG>aaA	p.K123K		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	123										kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		AAATAACAAAGAAAAGAGAGC	0.279000														11			49		0	0	0.000781405	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516118	138516118	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:138516118G>A	uc010nbd.1	-	4	910	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.P219P(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CTGTCCAAACGGGATGCAAGC	0.488000														60			21		0	0	0.000586117	0	0
CER1	9350	broad.mit.edu	37	9	14720328	14720328	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:14720328C>T	uc003zlj.3	-	1	609	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	188	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.G188R(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		ACCCGCATTTCCCAAAGCAAA	0.448000														9			24		0	0	0.00047179	0	0
WDR93	56964	broad.mit.edu	37	15	90280958	90280958	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:90280958G>C	uc002boj.3	+	14	1864	c.1763G>C	c.(1762-1764)cGa>cCa	p.R588P	WDR93_uc010bnr.3_Missense_Mutation_p.R560P|WDR93_uc010upz.2_Missense_Mutation_p.R305P	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	588					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCTGCTCCGAGGTACAGAA	0.562000														14			18		0	0	0.000566183	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100866992	100866992	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:100866992C>T	uc003uye.3	+	3	804	c.312C>T	c.(310-312)gcC>gcT	p.A104A	ZNHIT1_uc003uyf.3_Non-coding_Transcript	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA.	104							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					ACCTGACGGCCTGTGCGGGAC	0.667000														33			34		0	0	0.00283554	0	0
KDR	3791	broad.mit.edu	37	4	55972913	55972913	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:55972913C>T	uc003has.3	-	10	1779	c.1477G>A	c.(1477-1479)Gga>Aga	p.G493R	KDR_uc003hat.1_Missense_Mutation_p.G493R|KDR_uc011bzx.2_Missense_Mutation_p.G493R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	493	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTATTTCCTCCCTGGAAGTCC	0.333000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				39			34		0	0	0.00283554	0	0
KRT34	3885	broad.mit.edu	37	17	39537404	39537404	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:39537404C>T	uc002hwm.3	-	2	630	c.618G>A	c.(616-618)agG>agA	p.R206R		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	206	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R205H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CATCCAGGATCCTGCGTATGC	0.552000														34			32		0	0	0.0024448	0	0
MUC16	94025	broad.mit.edu	37	19	9056344	9056344	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9056344C>T	uc002mkp.3	-	2	31306	c.31102G>A	c.(31102-31104)Gag>Aag	p.E10368K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10370	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTGCTCTCTGTCCCAAGA	0.478000														59			23		0	0	0.00278032	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280093	73280093	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:73280093G>A	uc003tzk.2	+	2	724	c.688G>A	c.(688-690)Gag>Aag	p.E230K	WBSCR28_uc003tzl.2_Missense_Mutation_p.E129K	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	230						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CGAGGCCCAGGAGGTTGAACC	0.617000														94			124		0	0	0.000781405	0	0
CRYGN	155051	broad.mit.edu	37	7	151135093	151135093	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:151135093G>A	uc003wke.3	-	1	355	c.259C>T	c.(259-261)Cct>Tct	p.P87S	CRYGN_uc003wkf.3_Missense_Mutation_p.P87S|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	87	Beta/gamma crystallin 'Greek key' 2.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATTCCTACAGGCCGACAGGAG	0.637000														55			30		0	0	0.000692331	0	0
PBRM1	55193	broad.mit.edu	37	3	52702643	52702643	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:52702643A>C	uc003des.2	-	2	267	c.255T>G	c.(253-255)taT>taG	p.Y85*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003der.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003det.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003deu.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.Y85*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.Y85*|PBRM1_uc003dey.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003dez.1_Nonsense_Mutation_p.Y85*|PBRM1_uc003dfb.1_5'UTR	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	85	Bromo 1.				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.Y85fs*10(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)		AAACCACTTCATAATAGTCTG	0.299000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									9			34		0	0	0.00058488	0	0
DLL3	10683	broad.mit.edu	37	19	39994845	39994845	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:39994845C>T	uc002olx.2	+	4	845	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	DLL3_uc010egq.3_Missense_Mutation_p.P263S|DLL3_uc002olw.2_Missense_Mutation_p.P263S	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	263					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.P263P(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	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;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCAGGGGCCCGTCCTCTGC	0.652000														31			10		0	0	0.000978159	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455231	84455231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:84455231C>T	uc001vlk.3	-	0	1298	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	138						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAATTAAAATCAGCCTGGAGA	0.463000														63			69		0	0	0.000781405	0	0
ZP3	7784	broad.mit.edu	37	7	76063364	76063364	+	Silent	SNP	C	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:76063364C>G	uc003ufd.4	+	4	733	c.723C>G	c.(721-723)gtC>gtG	p.V241V	ZP3_uc003ufc.4_Silent_p.V190V|ZP3_uc003ufe.3_Silent_p.V149V	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	241	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GCTGTCTTGTCGACGGTCTCA	0.537000														96			41		0	0	0.000781405	0	0
AGT	183	broad.mit.edu	37	1	230841909	230841909	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:230841909C>T	uc001hty.4	-	2	1402	c.894G>A	c.(892-894)caG>caA	p.Q298Q	AGT_uc009xff.3_Silent_p.Q270Q	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	298					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCCAGAACTCCTGGGGCTCGG	0.582000														48			18		0	0	0.000958276	0	0
GLCE	26035	broad.mit.edu	37	15	69560974	69560974	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:69560974C>T	uc002ary.1	+	4	1473	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	415					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TAGTAAGGAACCAGGATGAGA	0.493000														76			26		0	0	0.000720815	0	0
abParts	0	broad.mit.edu	37	14	106379104	106379104	+	Splice_Site	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:106379104G>A	uc021ser.1	-	3377		c.53578_splice	c.e3377-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron					Parts of antibodies, mostly variable regions.																		TCACACAGTAGGAGGACCCTT	0.577000														14			8		0	0	0.000673444	0	0
LRP1B	53353	broad.mit.edu	37	2	141777525	141777525	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:141777525G>A	uc002tvj.1	-	11	2908	c.1936C>T	c.(1936-1938)Cat>Tat	p.H646Y	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	646					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCTGGGATGAGACATTTCA	0.373000										TSP Lung(27;0.18)				35			12		0	0	0.00136819	0	0
RNASEL	6041	broad.mit.edu	37	1	182551309	182551309	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:182551309C>T	uc009wxz.2	-	3	1908	c.1651G>A	c.(1651-1653)Gtt>Att	p.V551I	RNASEL_uc001gpk.3_Missense_Mutation_p.V551I|RNASEL_uc009wya.1_3'UTR	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	551	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						gaaagttgaaccaCCTCTTCA	0.483000														179			25		0	0	0.00106085	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185825	39185825	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:39185825C>T	uc003cjg.3	-	3	797	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	CSRNP1_uc003cjh.3_Missense_Mutation_p.E195K	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	195					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AAGCTCACTTCTTCCAACCGG	0.637000														15			48		0	0	0.000781405	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79082136	79082136	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:79082136C>T	uc002bej.4	-	6	1284	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	ADAMTS7_uc010und.1_Missense_Mutation_p.G358E|ADAMTS7_uc002bek.1_Missense_Mutation_p.G358E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	358	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ATGGGACAGTCCCAGGGTCTC	0.652000														5			9		0	0	0.000673444	0	0
IGLL3P	91353	broad.mit.edu	37	22	25714287	25714287	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:25714287C>T	uc021wnj.1	+	0		c.64C>T								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						GGTTTCAATCCAAGCATAATT	0.617000														54			31		0	0	0.000692331	0	0
MDM1	56890	broad.mit.edu	37	12	68724898	68724898	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:68724898G>A	uc001stz.2	-	1	258	c.122C>T	c.(121-123)tCa>tTa	p.S41L	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Missense_Mutation_p.S41L|MDM1_uc001sua.4_Missense_Mutation_p.S41L|MDM1_uc010std.2_Missense_Mutation_p.S41L	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	41						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TAATTGATCTGATCTAAGTCC	0.448000														103			55		0	0	0.000781405	0	0
CDSN	1041	broad.mit.edu	37	6	31084770	31084770	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:31084770C>A	uc003nsm.2	-	1	678	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	208	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						ACGCTTTGGCCACTGCTGGAT	0.587000														94			13		3.32936e-07	1.34005e-06	0.00074312	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140256947	140256947	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140256947G>A	uc003lic.2	+	0	2017	c.1890G>A	c.(1888-1890)gaG>gaA	p.E630E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.E630E	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	641	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D629N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTGGCGAGATCAGCACGA	0.672000														14			31		0	0	0.00283554	0	0
C4orf22	255119	broad.mit.edu	37	4	81884751	81884751	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:81884751C>T	uc010ijp.3	+	6	787	c.738C>T	c.(736-738)tcC>tcT	p.S246S	C4orf22_uc003hmf.3_Silent_p.S229S	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	229										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACCACATTTCCAGAAGGAAGA	0.343000														48			20		0	0	0.00121646	0	0
CTSB	1508	broad.mit.edu	37	8	11705270	11705270	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:11705270G>C	uc003wuq.3	-	6	756	c.594C>G	c.(592-594)tgC>tgG	p.C198W	CTSB_uc003wul.3_Missense_Mutation_p.C135W|CTSB_uc010lsc.3_Missense_Mutation_p.C74W|CTSB_uc011kxl.2_Missense_Mutation_p.C119W|CTSB_uc003wum.3_Missense_Mutation_p.C198W|CTSB_uc003wun.3_Missense_Mutation_p.C198W|CTSB_uc003wuo.3_Missense_Mutation_p.C198W|CTSB_uc003wup.3_Missense_Mutation_p.C198W|CTSB_uc003wuu.3_Missense_Mutation_p.C54W	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	198					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTCCCCCGTGCATGGGGGCC	0.627000														129			32		0	0	0.000692331	0	0
ARSF	416	broad.mit.edu	37	X	3030306	3030306	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:3030306C>T	uc022brz.1	+	10	1618	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	ARSF_uc004cre.2_Silent_p.F494F|ARSF_uc004crf.2_Silent_p.F494F	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	494						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGATGTTTCGGAGAACAGG	0.572000														12			55		0	0	0.000781405	0	0
GNL1	2794	broad.mit.edu	37	6	30515258	30515258	+	Silent	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:30515258C>A	uc003nqh.3	-	8	2540	c.1149G>T	c.(1147-1149)cgG>cgT	p.R383R	GNL1_uc011dmi.2_Silent_p.R180R|GNL1_uc011dmj.2_Silent_p.R381R|GNL1_uc011dmk.2_Silent_p.R38R	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	383	G.				T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity	p.G382G(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCACGACTTTCCGCCCCACCA	0.517000														81			110		1.03447e-49	4.24844e-49	0.000781405	1	0
PEX16	9409	broad.mit.edu	37	11	45939015	45939015	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:45939015C>A	uc001nbt.3	-	1	454	c.142G>T	c.(142-144)Gag>Tag	p.E48*	PEX16_uc001nbu.3_Nonsense_Mutation_p.E48*	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	48					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TCACCCAGCTCTGACAGCTCG	0.647000														4			14		3.32936e-07	1.34005e-06	0.00074312	1	0
MIER2	54531	broad.mit.edu	37	19	307350	307350	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:307350G>T	uc002lok.1	-	12	1394	c.1385C>A	c.(1384-1386)cCg>cAg	p.P462Q		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGGCTCCGGAGCAGTGAC	0.677000														11			11		1.08611e-07	4.38793e-07	0.000978159	1	0
GJC1	10052	broad.mit.edu	37	17	42883090	42883090	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42883090C>T	uc002ihj.3	-	1	607	c.96G>A	c.(94-96)cgG>cgA	p.R32R	GJC1_uc002ihk.3_Silent_p.R32R|GJC1_uc002ihl.3_Silent_p.R32R|GJC1_uc021tyf.1_Silent_p.R32R	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	32					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TAAGGACGATCCGGAAGACAA	0.478000														39			14		0	0	0.00185496	0	0
SLC47A1	55244	broad.mit.edu	37	17	19459367	19459367	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:19459367G>A	uc002gvx.3	+	9	999	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.V305M|SLC47A1_uc010vyz.1_Missense_Mutation_p.V282M|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.V110M|SLC47A1_uc010vza.1_Missense_Mutation_p.V17M|SLC47A1_uc010vzb.1_Missense_Mutation_p.V39M|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	305						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GGCCATCATTGTGTACATGGT	0.547000														33			7		0	0	0.000442599	0	0
ARIH2	10425	broad.mit.edu	37	3	49008135	49008135	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:49008135C>T	uc003cvb.3	+	7	1080	c.768C>T	c.(766-768)ttC>ttT	p.F256F	ARIH2_uc003cvc.3_Silent_p.F256F|ARIH2_uc003cvf.3_Silent_p.F174F|ARIH2_uc010hkl.3_Silent_p.F256F	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	256					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACGAGGTCTTCTGGTAAGAGT	0.597000														3			39		0	0	0.000953801	0	0
KAT8	84148	broad.mit.edu	37	16	31141809	31141809	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:31141809G>A	uc002eay.3	+	8	1057	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	KAT8_uc002eax.3_Missense_Mutation_p.G347S|KAT8_uc002eaz.3_Missense_Mutation_p.G189S|KAT8_uc002eba.3_Missense_Mutation_p.G131S	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	347					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GAGCACAGTCGGCTCCCCGGA	0.622000														12			19		0	0	0.000958276	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272779	77272779	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:77272779G>A	uc001xsv.3	-	4	1473	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	454										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GGCATCCCATGGTACTGGAGC	0.537000														30			10		0	0	0.00136819	0	0
ZNF474	133923	broad.mit.edu	37	5	121488724	121488724	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:121488724G>A	uc003ksv.3	+	1	1415	c.1039G>A	c.(1039-1041)Gta>Ata	p.V347I	ZNF474_uc021ycy.1_Missense_Mutation_p.V347I	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	347						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AACTGATAAGGTAATTCATGC	0.468000														44			8		0	0	0.000274275	0	0
PARP1	142	broad.mit.edu	37	1	226562022	226562022	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:226562022G>A	uc001hqd.4	-	13	2146	c.1975C>T	c.(1975-1977)Cct>Tct	p.P659S		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	659					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTGGTGCCAGGATTTACTGTC	0.453000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						12			54		0	0	0.000781405	0	0
TLL1	7092	broad.mit.edu	37	4	166976365	166976365	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:166976365G>A	uc003irh.2	+	12	2309	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	TLL1_uc011cjn.2_Missense_Mutation_p.M577I|TLL1_uc011cjo.2_Missense_Mutation_p.M378I	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	554	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTTGTGGATGAAGTTTGTTT	0.358000														55			29		0	0	0.000814825	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35163625	35163625	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:35163625T>G	uc003teq.1	-	12	1578	c.471A>C	c.(469-471)ttA>ttC	p.L157F	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		CTGAAACGCCTAAGATTTTAG	0.318000														128			25		0	0	0.00058488	0	0
COL14A1	7373	broad.mit.edu	37	8	121211734	121211734	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:121211734G>A	uc003yox.3	+	7	1071	c.806G>A	c.(805-807)gGa>gAa	p.G269E	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_Intron	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	269	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATCACAGATGGAAAATCCCAA	0.383000														52			46		0	0	0.00222228	0	0
KCNG4	93107	broad.mit.edu	37	16	84271081	84271081	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:84271081G>A	uc010voc.2	-	1	132	c.11C>T	c.(10-12)cCt>cTt	p.P4L	KCNG4_uc002fhu.1_Missense_Mutation_p.P4L	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	4						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTCTCTGGAAGGCATGGGCAT	0.572000														34			11		0	0	0.00136819	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659850	172659851	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:172659850_172659851CC>TT	uc003mcm.2	-	1	925_926	c.696_697GG>AA	c.(694-699)ggggac>ggAAac	p.D233N	NKX2-5_uc010jjt.2_3'UTR|NKX2-5_uc011dfe.2_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	Homo sapiens NK2 homeobox 5 (NKX2-5), transcript variant 1, mRNA.	233	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGCCGAGTCCCCTAGGCATG	0.723000														28			8		0	0	6.4e-05	0	0
SMARCC2	6601	broad.mit.edu	37	12	56568535	56568535	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:56568535G>A	uc001skb.3	-	15	1502	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	SMARCC2_uc001skd.3_Nonsense_Mutation_p.R466*|SMARCC2_uc001ska.3_Nonsense_Mutation_p.R466*|SMARCC2_uc001skc.3_Nonsense_Mutation_p.R466*|SMARCC2_uc010sqf.2_Nonsense_Mutation_p.R355*	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	466	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATAAAGTTTCGATAGGCCAGG	0.428000														49			67		0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10404786	10404786	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:10404786C>T	uc002gmo.3	-	26	3473	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1127						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCTCTGCCTCGATTTCCTCC	0.542000														19			32		0	0	0.0024448	0	0
CENPC1	1060	broad.mit.edu	37	4	68385046	68385046	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:68385046A>G	uc003hdd.1	-	5	689	c.506T>C	c.(505-507)gTa>gCa	p.V169A	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.V169A	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	169					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						ATTTTGTGATACAGATGTTTT	0.343000														110			19		0	0	0.000958276	0	0
PARS2	25973	broad.mit.edu	37	1	55224298	55224298	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:55224298G>A	uc021ont.1	-	0	537	c.537C>T	c.(535-537)ttC>ttT	p.F179F	PARS2_uc001cxy.3_Silent_p.F179F	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	179					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GGTACAGCAGGAAGGGAAGCT	0.512000														67			32		0	0	0.00283554	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	C	C	rs137871677	by1000genomes	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:29625905T>C	uc010ztl.1	+	1	91	c.59T>C	c.(58-60)cTt>cCt	p.L20P	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.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000														74			5		0	0	0.000602214	0	0
ADCY1	107	broad.mit.edu	37	7	45725619	45725619	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:45725619C>T	uc003tne.4	+	12	2150	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	711					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGGTCCTTTCGTCTGGGGGC	0.657000														18			38		0	0	0.000953801	0	0
SPINT1	6692	broad.mit.edu	37	15	41146000	41146000	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:41146000C>T	uc001zna.3	+	4	1038	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SPINT1_uc001znb.3_Silent_p.F278F|SPINT1_uc001znc.3_Silent_p.F278F|SPINT1_uc010ucs.2_Silent_p.F278F	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	278	BPTI/Kunitz inhibitor 1.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCAAGAGTTTCGTTTATGGAG	0.572000														86			47		0	0	0.000680045	0	0
C7orf42	55069	broad.mit.edu	37	7	66413654	66413655	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:66413654_66413655CC>TT	uc003tvk.3	+	3	833_834	c.569_570CC>TT	c.(568-570)gcc>gTT	p.A190V	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	190						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						ACCCTCACGGCCAGCCCTGGGG	0.599000														22			18		0	0	6.4e-05	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528347	6528347	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:6528347G>A	uc001anp.1	-	20	3278	c.2780C>T	c.(2779-2781)cCt>cTt	p.P927L	PLEKHG5_uc001ann.1_Missense_Mutation_p.P887L|PLEKHG5_uc001ano.1_Missense_Mutation_p.P906L|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.P411L|PLEKHG5_uc009vma.1_Missense_Mutation_p.P690L|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P919L|PLEKHG5_uc001ank.1_Missense_Mutation_p.P850L|PLEKHG5_uc009vmb.1_Missense_Mutation_p.P850L|PLEKHG5_uc001anl.1_Missense_Mutation_p.P850L|PLEKHG5_uc001anm.1_Missense_Mutation_p.P850L	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	906					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGGAGGGGAAGGAACTCGTGG	0.667000														10			14		0	0	0.000308642	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522285	144522285	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:144522285G>C	uc003yyd.2	-	10	2770	c.2741C>G	c.(2740-2742)tCc>tGc	p.S914C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	914					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGACTGCAGGGAGATGAAGGA	0.682000														70			7		0	0	0.000274275	0	0
ADCY8	114	broad.mit.edu	37	8	131880102	131880102	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:131880102G>A	uc003ytd.4	-	8	2456	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	734					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P734S(2)|p.P734L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTGAAGAAGGAAGCAAACTT	0.353000										HNSCC(32;0.087)				69			22		0	0	0.00229938	0	0
POU6F1	5463	broad.mit.edu	37	12	51589948	51589948	+	Silent	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:51589948T>C	uc001rxy.3	-	1	246	c.54A>G	c.(52-54)ggA>ggG	p.G18G	POU6F1_uc001rxz.3_Silent_p.G18G|POU6F1_uc001rya.3_Silent_p.G18G	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	18	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						ATGGAAGGGTTCCAATAACCT	0.607000														10			15		0	0	0.000422831	0	0
KRT8	3856	broad.mit.edu	37	12	53294408	53294408	+	Silent	SNP	G	A	A	rs150187239	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:53294408G>A	uc009zmk.1	-	4	758	c.738C>T	c.(736-738)acC>acT	p.T246T	KRT8_uc001sbd.2_Silent_p.T218T|KRT8_uc009zml.1_Silent_p.T218T|KRT8_uc009zmm.1_Silent_p.T218T	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	218	Linker 12.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATCTCGTCGGTCAGCCCTT	0.572000														50			29		0	0	0.000692331	0	0
DSP	1832	broad.mit.edu	37	6	7583514	7583514	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:7583514G>A	uc003mxp.1	+	23	6298	c.6019G>A	c.(6019-6021)Gaa>Aaa	p.E2007K	DSP_uc003mxq.1_Missense_Mutation_p.E1408K|DSP_uc021yle.1_Missense_Mutation_p.E1564K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2007	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTTGCTTCTGAAATCCAGCC	0.448000														37			66		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712475	140712475	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140712475G>A	uc003lji.2	+	0	2224	c.2224G>A	c.(2224-2226)Ggc>Agc	p.G742S	PCDHGC5_uc011dan.2_Missense_Mutation_p.G742S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	752					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTTTGTGGGCGTGGACGG	0.637000														64			14		0	0	0.00244969	0	0
SALL4	57167	broad.mit.edu	37	20	50408085	50408085	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:50408085A>G	uc002xwh.4	-	1	1038	c.937T>C	c.(937-939)Ttc>Ctc	p.F313L	SALL4_uc010gii.3_Missense_Mutation_p.F313L|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	313					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCAGAGTGAAGGGTGCCAGC	0.632000														36			52		0	0	0.000781405	0	0
ANKS1B	56899	broad.mit.edu	37	12	100219129	100219129	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:100219129G>A	uc001tge.2	-	1	590	c.173C>T	c.(172-174)tCg>tTg	p.S58L	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.S58L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	58						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGTGTAACCCGAACTGTCTGT	0.433000														6			12		0	0	0.00185496	0	0
RRP1B	23076	broad.mit.edu	37	21	45107506	45107506	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:45107506G>A	uc002zdk.3	+	12	1365	c.1251G>A	c.(1249-1251)ggG>ggA	p.G417G	RRP1B_uc002zdl.3_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	417					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CAGGCCCAGGGGGTGCAGCCC	0.582000														1			30		0	0	0.00106085	0	0
ODZ2	57451	broad.mit.edu	37	5	167642177	167642177	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:167642177G>A	uc010jjd.3	+	20	3951	c.3951G>A	c.(3949-3951)tcG>tcA	p.S1317S	ODZ2_uc003lzr.4_Silent_p.S1087S|ODZ2_uc003lzt.4_Silent_p.S690S|ODZ2_uc010jje.3_Silent_p.S581S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGGGAATTCGGAAGTTGTGG	0.592000														108			14		0	0	0.00074312	0	0
LY86	9450	broad.mit.edu	37	6	6589038	6589038	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:6589038G>A	uc003mwy.1	+	0	105	c.71G>A	c.(70-72)gGg>gAg	p.G24E	LY86-AS1_uc003mww.4_Intron|LY86-AS1_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	24					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					GGCGGCGGTGGGAAAGCCTGG	0.562000														108			15		0	0	0.000566183	0	0
STATH	6779	broad.mit.edu	37	4	70865523	70865523	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:70865523C>T	uc003heu.1	+	3	209	c.99C>T	c.(97-99)ttC>ttT	p.F33F	STATH_uc003hev.1_Intron	NM_003154	NP_003145	P02808	STAT_HUMAN	Homo sapiens statherin (STATH), transcript variant 1, mRNA.	33			Missing (in statherin variants SV2 and SV3).		biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						TTGGAAGATTCGGTGTAAGTG	0.308000														57			9		0	0	0.000673444	0	0
ADAM2	2515	broad.mit.edu	37	8	39679138	39679138	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:39679138G>A	uc003xnj.3	-	4	386	c.311C>T	c.(310-312)tCt>tTt	p.S104F	ADAM2_uc003xnk.3_Missense_Mutation_p.S104F|ADAM2_uc011lck.2_Missense_Mutation_p.S104F|ADAM2_uc003xnl.3_Missense_Mutation_p.S104F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	104					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCACCACAGATTTTGGATA	0.284000														43			32		0	0	0.00128727	0	0
IGSF5	150084	broad.mit.edu	37	21	41173213	41173213	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:41173213C>T	uc002yyo.3	+	8	1256	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	385						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCCACCCAGGCCAGCAAGTCA	0.468000														6			24		0	0	0.001512	0	0
NSFL1C	55968	broad.mit.edu	37	20	1426367	1426367	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:1426367G>A	uc002wfc.3	-	7	1762	c.894C>T	c.(892-894)atC>atT	p.I298I	NSFL1C_uc021vzq.1_Silent_p.I184I|NSFL1C_uc002wfe.3_Silent_p.I267I	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	298	UBX.					Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCCGAATTTGGATGTTTGTGG	0.512000														180			128		0	0	0.000781405	0	0
FOXR2	139628	broad.mit.edu	37	X	55650362	55650362	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:55650362C>T	uc004duo.3	+	0	530	c.218C>T	c.(217-219)cCc>cTc	p.P73L		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	73					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GATGGTCCTCCCTGTGAACCC	0.537000														5			20		0	0	0.00152264	0	0
MCTP1	79772	broad.mit.edu	37	5	94353135	94353135	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:94353135G>A	uc003kkx.2	-	1	774	c.774C>T	c.(772-774)ccC>ccT	p.P258P	MCTP1_uc003kkv.2_Silent_p.P37P|MCTP1_uc003kkw.2_Silent_p.P37P|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	258	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGTACATTCCGGGATCAGCCA	0.383000														58			91		0	0	0.000781405	0	0
THOC2	57187	broad.mit.edu	37	X	122767863	122767863	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:122767863C>T	uc004etu.3	-	19	2109	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	THOC2_uc011muh.1_Missense_Mutation_p.E618K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	693					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCATTTCCTCTGTAATTTCT	0.333000														12			58		0	0	0.000781405	0	0
TTC31	64427	broad.mit.edu	37	2	74719532	74719533	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:74719532_74719533GG>AA	uc002slt.2	+	10	1144_1145	c.1121_1122GG>AA	c.(1120-1122)cgg>cAA	p.R374Q	TTC31_uc002sls.2_3'UTR|TTC31_uc002slu.2_Missense_Mutation_p.R228Q	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	374							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGCTGGCCCCGGGGCCTCTTCC	0.609000														25			20		0	0	6.4e-05	0	0
IL31RA	133396	broad.mit.edu	37	5	55212490	55212490	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:55212490G>A	uc003jql.3	+	14	2029	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	IL31RA_uc003jqm.3_Missense_Mutation_p.E594K|IL31RA_uc003jqn.3_Missense_Mutation_p.E613K|IL31RA_uc021xyq.1_Missense_Mutation_p.E594K|IL31RA_uc003jqo.3_Missense_Mutation_p.E471K	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	581					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAACCTGAAGGAGTCTGATGA	0.443000														74			27		0	0	0.000720815	0	0
VIL1	7429	broad.mit.edu	37	2	219292738	219292738	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:219292738C>T	uc002vib.3	+	3	420	c.398C>T	c.(397-399)tCc>tTc	p.S133F	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.S133F|VIL1_uc002vic.1_Missense_Mutation_p.S133F	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	133	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGACCAACTCCTATGACGTC	0.617000														35			33		0	0	0.00058488	0	0
TFRC	7037	broad.mit.edu	37	3	195782033	195782033	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:195782033T>C	uc003fvz.4	-	16	2100	c.1817A>G	c.(1816-1818)gAa>gGa	p.E606G	TFRC_uc003fwa.4_Missense_Mutation_p.E606G|TFRC_uc010hzy.3_Missense_Mutation_p.E525G|TFRC_uc011btr.2_Missense_Mutation_p.E324G	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	606	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAGGTTCAATTCAACATCATG	0.443000			T	BCL6	NHL									19			157		0	0	0.000781405	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344475	38344475	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:38344475G>T	uc010qev.2	+	3	1545	c.1441G>T	c.(1441-1443)Ggg>Tgg	p.G481W	ZNF33A_uc001izg.3_Missense_Mutation_p.G475W|ZNF33A_uc001izh.3_Missense_Mutation_p.G474W|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.G475W	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	474						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCTTGAGTGTGGGAAATCCTT	0.378000														5			16		3.32936e-07	1.34005e-06	0.00074312	1	0
FAM47C	442444	broad.mit.edu	37	X	37027692	37027692	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:37027692C>T	uc004ddl.2	+	0	1261	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	403										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCCTCTCTTCCCGGAGCCTC	0.612000														6			26		0	0	0.0024448	0	0
CYP4A11	1579	broad.mit.edu	37	1	47406984	47406984	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:47406984C>T	uc001cqp.4	-	0	173	c.122G>A	c.(121-123)aGg>aAg	p.R41K	CYP4A11_uc001cqq.2_Missense_Mutation_p.R41K|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	41					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CAGCCACTGCCTGTGCAGGTA	0.607000														35			36		0	0	0.00058488	0	0
RSPRY1	89970	broad.mit.edu	37	16	57250944	57250944	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:57250944C>T	uc002elb.3	+	7	1176	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	RSPRY1_uc002elc.3_Missense_Mutation_p.L300F|RSPRY1_uc002eld.3_Missense_Mutation_p.L300F	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	300	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTTAGACAATCTCTGTAAGTG	0.428000														50			56		0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181767596	181767596	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:181767596G>A	uc009wxt.3	+	47	6763	c.6568G>A	c.(6568-6570)Gag>Aag	p.E2190K	CACNA1E_uc001gow.3_Missense_Mutation_p.E2147K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E2128K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGATGGAAGCGAGGAGGGCTC	0.642000														38			13		0	0	0.00185496	0	0
RCC1	1104	broad.mit.edu	37	1	28858478	28858478	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:28858478C>T	uc001bqb.2	+	5	636	c.237C>T	c.(235-237)acC>acT	p.T79T	RCC1_uc001bqa.2_Silent_p.T79T|RCC1_uc001bqc.2_Silent_p.T79T|RCC1_uc001bqe.2_Silent_p.T96T|RCC1_uc001bqf.2_Silent_p.T110T|RCC1_uc001bqg.2_Silent_p.T79T	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	79					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCATGCACACCGTGTGTCTAA	0.612000														28			29		0	0	0.000692331	0	0
BRAF	673	broad.mit.edu	37	7	140501337	140501337	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:140501337T>G	uc003vwc.4	-	5	796	c.735A>C	c.(733-735)ttA>ttC	p.L245F		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	245			L -> F (in CFC syndrome).		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		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)	CACAAAATGCTAAGGTGAAAA	0.373000		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					17			17		0	0	0.000566183	0	0
SLC12A5	57468	broad.mit.edu	37	20	44678350	44678350	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:44678350G>A	uc010zxl.1	+	16	2247	c.2171G>A	c.(2170-2172)gGg>gAg	p.G724E	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.G701E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	724					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGAAGGCGGGGAAGGGCCTG	0.617000														14			10		0	0	0.000673444	0	0
DSC3	1825	broad.mit.edu	37	18	28584309	28584309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:28584309G>A	uc002kwj.4	-	12	2067	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	DSC3_uc002kwi.4_Nonsense_Mutation_p.Q638*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	638	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTTTTCTGATATGAAAGA	0.338000														53			45		0	0	0.00285205	0	0
INADL	10207	broad.mit.edu	37	1	62579761	62579761	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:62579761G>A	uc001dab.3	+	34	4612	c.4498G>A	c.(4498-4500)Gaa>Aaa	p.E1500K	INADL_uc009waf.1_Missense_Mutation_p.E1530K|INADL_uc001daa.2_Missense_Mutation_p.E1472K|INADL_uc001dad.3_Missense_Mutation_p.E1197K|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.E314K|INADL_uc009wag.3_Missense_Mutation_p.E284K|INADL_uc010oou.1_Missense_Mutation_p.E145K	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1500	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGCCACGAAGAAGCCATCAC	0.567000														12			11		0	0	0.000978159	0	0
GPR98	84059	broad.mit.edu	37	5	89924546	89924546	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:89924546T>C	uc003kju.3	+	7	1502	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	469	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.L469F(1)		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)		ACAATTCCTCTTACTGTGGTT	0.483000														88			31		0	0	0.00058488	0	0
PREX2	80243	broad.mit.edu	37	8	68981287	68981287	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:68981287C>T	uc003xxv.1	+	11	1386	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	PREX2_uc003xxu.1_Silent_p.F453F|PREX2_uc011lez.1_Silent_p.F388F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	453	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACATCAATTCAAACCAGAAC	0.313000														39			19		0	0	0.000958276	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767497	31767497	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:31767497G>A	uc002nsy.4	-	1	3267	c.3202C>T	c.(3202-3204)Ccg>Tcg	p.P1068S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	1068					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGTCTTCCGGAGATTTCCCG	0.468000														54			28		0	0	0.00106085	0	0
SEC24A	10802	broad.mit.edu	37	5	134050782	134050782	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:134050782C>T	uc003kzs.3	+	18	3088	c.2796C>T	c.(2794-2796)aaC>aaT	p.N932N	SEC24A_uc011cxu.2_Silent_p.N696N	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	932					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGTGAAAAACCAGCCCTTGG	0.408000														62			14		0	0	0.00244969	0	0
UPF1	5976	broad.mit.edu	37	19	18943081	18943081	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:18943081C>T	uc002nkg.3	+	0	338	c.63C>T	c.(61-63)gcC>gcT	p.A21A	UPF1_uc002nkf.3_Silent_p.A21A	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	21	Sufficient for interaction with RENT2.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGAGGAGGCCGAGCTGCTTG	0.701000														27			26		0	0	0.00178596	0	0
abParts	0	broad.mit.edu	37	2	90259991	90259991	+	RNA	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:90259991T>C	uc010yts.2	+	40		c.5259T>C								Parts of antibodies, mostly variable regions.																		GTCTCCATCCTTACTCTCTGC	0.428000														52			17		0	0	0.000958276	0	0
PRKCD	5580	broad.mit.edu	37	3	53219703	53219703	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:53219703G>A	uc003dgl.3	+	10	1325	c.972G>A	c.(970-972)ggG>ggA	p.G324G	PRKCD_uc003dgm.3_Silent_p.G324G|PRKCD_uc010hmt.1_Silent_p.G96G	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	324					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GAGTTGCTGGGGAGGACATGC	0.552000														14			64		0	0	0.000781405	0	0
MARCH6	10299	broad.mit.edu	37	5	10405676	10405676	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:10405676C>T	uc003jet.1	+	15	1522	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	MARCH6_uc011cmu.1_Nonsense_Mutation_p.R399*|MARCH6_uc003jeu.1_Nonsense_Mutation_p.R145*|MARCH6_uc011cmv.1_Nonsense_Mutation_p.R342*	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	447					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GCAGGTACTTCGACCTGGTGT	0.328000														51			10		0	0	0.00136819	0	0
KCNS3	3790	broad.mit.edu	37	2	18112978	18112978	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:18112978G>A	uc021veh.1	+	0	703	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	KCNS3_uc002rcv.3_Missense_Mutation_p.G235R|KCNS3_uc002rcw.3_Missense_Mutation_p.G235R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	235					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.G235A(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGTTCACCGGGGAGCTTGC	0.517000														36			40		0	0	0.0025221	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841397	8841397	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:8841397G>A	uc010xkg.2	+	0	7	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACATGGGGGATGTGAATCA	0.498000														21			16		0	0	0.000566183	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338392	72338392	+	RNA	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:72338392G>A	uc010lal.1	-	0		c.1264C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GCCTCCCGGGGGGAAGTCTCA	0.577000														29			28		0	0	0.000720815	0	0
VHDJH	0	broad.mit.edu	37	16	32077597	32077597	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:32077597C>T	uc010vfu.2	+	0		c.28C>T								Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26.																		TTCACCATCTCCAGGGACAAC	0.512000														300			105		0	0	0.000781405	0	0
ANAPC1	64682	broad.mit.edu	37	2	112630288	112630288	+	Splice_Site	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:112630288A>G	uc002thi.3	-	6	776	c.529_splice	c.e6-1	p.V177_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	177					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AACATTTGCAACCTTTCAGGT	0.353000														14			12		0	0	0.00244969	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22190123	22190123	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:22190123C>T	uc003svg.3	-	18	1641	c.1328_splice	c.e18-1	p.E443_splice	RAPGEF5_uc011jyl.1_Splice_Site_p.E124_splice	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	293	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCATGCTTTTCTTTATTTGAA	0.378000														115			15		0	0	0.00111076	0	0
ZNF560	147741	broad.mit.edu	37	19	9579859	9579859	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9579859C>T	uc002mlp.1	-	8	744	c.534G>A	c.(532-534)tgG>tgA	p.W178*	ZNF560_uc010dwr.1_Nonsense_Mutation_p.W72*	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	178	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGCACATTTTCCATTCTGAAA	0.289000														7			4		0	0	0.000602214	0	0
NPHP1	4867	broad.mit.edu	37	2	110922710	110922710	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:110922710C>T	uc002tfn.4	-	6	741	c.647G>A	c.(646-648)gGc>gAc	p.G216D	NPHP1_uc002tfm.4_Missense_Mutation_p.G216D|NPHP1_uc002tfl.4_Missense_Mutation_p.G216D|NPHP1_uc002tfo.4_Missense_Mutation_p.G154D|NPHP1_uc010ywx.2_Missense_Mutation_p.G216D|NPHP1_uc010fjv.1_Missense_Mutation_p.G216D	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	216	Glu-rich.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TGACTCTTGGCCTTCTTCTTC	0.398000														43			33		0	0	0.00283554	0	0
EEF1D	1936	broad.mit.edu	37	8	144672147	144672147	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:144672147C>T	uc003yyq.2	-	0	484	c.255G>A	c.(253-255)gcG>gcA	p.A85A	EEF1D_uc003yyp.2_Silent_p.A35A|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.A35A|EEF1D_uc003yyr.3_Silent_p.A35A|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	33					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGAGGCGGCCGCCTGTGTGG	0.692000														48			7		0	0	0.00198382	0	0
WDR44	54521	broad.mit.edu	37	X	117526679	117526679	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:117526679G>T	uc004eqn.3	+	3	702	c.271G>T	c.(271-273)Gat>Tat	p.D91Y	WDR44_uc004eqo.3_Missense_Mutation_p.D91Y|WDR44_uc011mtr.2_Missense_Mutation_p.D66Y|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	91	Binding activity.					Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAACTCTCTGATCAAGCTAC	0.408000														9			69		1.05635e-38	4.33278e-38	0.000781405	1	0
ECSIT	51295	broad.mit.edu	37	19	11625030	11625030	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:11625030G>A	uc002msb.3	-	2	237	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	ECSIT_uc010dyc.2_Missense_Mutation_p.R35C|ECSIT_uc010dyd.3_Missense_Mutation_p.R35C|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	35					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGGAGCCGGCGAGGGACCTGG	0.677000														23			21		0	0	0.00188189	0	0
WDFY3	23001	broad.mit.edu	37	4	85611675	85611675	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:85611675G>A	uc003hpd.3	-	60	9755	c.9347C>T	c.(9346-9348)aCc>aTc	p.T3116I		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3116						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGGGTGACGGTCTTGGCCTT	0.502000														69			44		0	0	0.000781405	0	0
RXFP1	59350	broad.mit.edu	37	4	159560473	159560473	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:159560473C>T	uc003ipz.3	+	13	1368	c.1105C>T	c.(1105-1107)Ctc>Ttc	p.L369F	RXFP1_uc010iqj.2_Missense_Mutation_p.L198F|RXFP1_uc010iqk.3_Missense_Mutation_p.L237F|RXFP1_uc011cja.2_Missense_Mutation_p.L264F|RXFP1_uc010iqo.3_Missense_Mutation_p.L321F|RXFP1_uc011cjb.2_Missense_Mutation_p.L267F|RXFP1_uc011cjc.2_Missense_Mutation_p.L288F|RXFP1_uc011cjd.2_Missense_Mutation_p.L288F|RXFP1_uc010iql.3_Missense_Mutation_p.L213F|RXFP1_uc011cje.2_Missense_Mutation_p.L396F|RXFP1_uc010iqm.3_Missense_Mutation_p.L336F|RXFP1_uc011cjf.2_Missense_Mutation_p.L238F|RXFP1_uc010iqn.3_Missense_Mutation_p.L314F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	369						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTTATGAATCTCTCTCACAT	0.274000														46			23		0	0	0.00278032	0	0
DBH	1621	broad.mit.edu	37	9	136523475	136523475	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:136523475C>T	uc004cel.3	+	11	1769	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	587					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AAGGTCATCTCCACACTGGAA	0.657000														54			15		0	0	0.000422831	0	0
ARID3B	10620	broad.mit.edu	37	15	74865202	74865202	+	Splice_Site	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:74865202G>A	uc002aye.3	+	3	754	c.553_splice	c.e3-1	p.N185_splice	ARID3B_uc002ayc.3_Splice_Site_p.N185_splice|ARID3B_uc002ayd.3_Splice_Site_p.N185_splice	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TTCCCTTTTAGAATGGTGGTT	0.458000														33			7		0	0	0.000157383	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182967	140182967	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140182967G>A	uc003lhf.2	+	0	2185	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E729K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	737					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCAACCGAAGGCGACTG	0.632000														108			32		0	0	0.000692331	0	0
TTN	7273	broad.mit.edu	37	2	179425001	179425001	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179425001C>T	uc021vsy.1	-	274	78379	c.78154G>A	c.(78154-78156)Gaa>Aaa	p.E26052K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19747K|TTN_uc021vta.1_Missense_Mutation_p.E19680K|TTN_uc021vtb.1_Missense_Mutation_p.E19555K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26979	Ig-like 126.						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)			TATTCATATTCACATCCTTCC	0.408000														40			18		0	0	0.00074312	0	0
FERMT1	55612	broad.mit.edu	37	20	6088236	6088236	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:6088236C>T	uc002wmr.3	-	5	1581	c.792G>A	c.(790-792)gaG>gaA	p.E264E	FERMT1_uc010gbt.3_Silent_p.E7E|FERMT1_uc002wms.3_Silent_p.E264E|FERMT1_uc002wmt.3_Silent_p.E7E	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	264	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTGCTCATCCTCTTGGATGC	0.353000														36			25		0	0	0.001512	0	0
MARCO	8685	broad.mit.edu	37	2	119750702	119750702	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:119750702G>A	uc002tln.1	+	15	1387	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	MARCO_uc010yyf.1_Missense_Mutation_p.E341K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	419	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCACCCAGGTGAAAACTCAGT	0.517000														34			20		0	0	0.00152264	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409540	19409540	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:19409540C>T	uc010tcj.1	-	0		c.36570G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTTTCTGTCTCTCATATTGAA	0.299000														27			28		0	0	0.00106085	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097044	69097044	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:69097044C>T	uc003hdw.4	-	6	699	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	188	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G188G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGAGCTTTTTCCATTCACAAT	0.483000														71			41		0	0	0.0025221	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884150	24884151	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:24884150_24884151GG>AA	uc001wpf.4	+	8	3513_3514	c.3195_3196GG>AA	c.(3193-3198)ctgggc>ctAAgc	p.G1066S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1066					DNA integration	integral to membrane	DNA binding	p.L1065L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCCCTACCTGGGCATCCCCTG	0.639000														26			17		0	0	6.4e-05	0	0
SEL1L3	23231	broad.mit.edu	37	4	25806174	25806174	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:25806174C>T	uc003gru.4	-	9	1917	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	SEL1L3_uc003grv.3_5'UTR	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	589						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGCAGCTGATCCCGAGGAACA	0.448000														16			8		0	0	0.000157383	0	0
RP1	6101	broad.mit.edu	37	8	55540643	55540643	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:55540643C>T	uc003xsd.1	+	3	4349	c.4201C>T	c.(4201-4203)Ctt>Ttt	p.L1401F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1401					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)			CTCCTGTGGCCTTTGCCTAAG	0.318000														92			29		0	0	0.00209593	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475476	42475476	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42475476G>A	uc002igw.2	-	7	4188	c.3969C>T	c.(3967-3969)ctC>ctT	p.L1323L	GPATCH8_uc002igv.2_Silent_p.L1245L|GPATCH8_uc010wiz.2_Silent_p.L1245L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1323						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAGCCTGCTGGAGCTTGCTGT	0.597000														24			29		0	0	0.000878237	0	0
TLN2	83660	broad.mit.edu	37	15	63047816	63047816	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:63047816C>T	uc002alb.4	+	33	4562	c.4562C>T	c.(4561-4563)cCa>cTa	p.P1521L	TLN2_uc002alc.4_5'UTR|TLN2_uc002ald.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1521					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACGGCCAACCCAGTAGCCAAG	0.577000														18			19		0	0	0.000958276	0	0
RECQL5	9400	broad.mit.edu	37	17	73654435	73654435	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:73654435G>A	uc010dgl.3	-	6	1301	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	RECQL5_uc010dgk.3_Silent_p.S337S|RECQL5_uc002joz.4_Silent_p.S364S|RECQL5_uc002jpa.4_Silent_p.S364S|RECQL5_uc002jpb.2_Silent_p.S364S	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	364	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGTCATTCCTGGAGTAATAGA	0.547000								Other identified genes with known or suspected DNA repair function						127			96		0	0	0.000781405	0	0
ANKRD55	79722	broad.mit.edu	37	5	55422854	55422854	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:55422854C>T	uc003jqu.3	-	7	844	c.692G>A	c.(691-693)gGg>gAg	p.G231E		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	230										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACATGTCTTCCCACTCTCATC	0.488000														62			86		0	0	0.000781405	0	0
IFNAR1	3454	broad.mit.edu	37	21	34715885	34715885	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:34715885C>T	uc002yrn.3	+	4	723	c.576C>T	c.(574-576)ctC>ctT	p.L192L	IFNAR1_uc011adv.2_Silent_p.L123L	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	192	Fibronectin type-III 1.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTTATAAACTCTCACCAGAGA	0.294000														47			33		0	0	0.00178596	0	0
JRK	8629	broad.mit.edu	37	8	143745833	143745833	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:143745833G>A	uc003ywp.3	-	2	2157	c.1643C>T	c.(1642-1644)cCt>cTt	p.P548L	JRK_uc003ywo.3_Intron|JRK_uc022bcb.1_Intron|JRK_uc022bcc.1_Non-coding_Transcript	NM_003724	NP_003715			Homo sapiens jerky homolog (mouse) (JRK), transcript variant 1, mRNA.													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ACAGCCACCAGGGCCCTCCTG	0.677000														51			8		0	0	0.000442599	0	0
ADH1B	125	broad.mit.edu	37	4	100237457	100237457	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:100237457C>T	uc003hus.4	-	3	346	c.262G>A	c.(262-264)Gat>Aat	p.D88N	ADH1B_uc003hut.4_Missense_Mutation_p.D48N|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.D48N	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	88					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.G87S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATGACTTTATCACCTGGAGAG	0.368000														27			25		0	0	0.000586117	0	0
PDILT	204474	broad.mit.edu	37	16	20373858	20373858	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:20373858C>T	uc002dhc.1	-	9	1507	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	428	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGCCCAATTCCTCCAACAGTG	0.463000														19			33		0	0	0.000814825	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822813	26822813	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:26822813C>T	uc010wan.2	+	9	1663	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	SLC13A2_uc010wam.2_Silent_p.F439F|SLC13A2_uc002hbh.3_Silent_p.F483F|SLC13A2_uc010wao.2_Silent_p.F440F|SLC13A2_uc002hbi.3_Silent_p.F412F	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	483						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTACGATCTTCCTGCCCATCC	0.632000														59			14		0	0	0.000422831	0	0
TRAK2	66008	broad.mit.edu	37	2	202254172	202254172	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:202254172G>A	uc002uyb.4	-	11	1694	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	416	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGATAGAGCGGCCCCGTGTGT	0.473000														29			8		0	0	0.000442599	0	0
BBS1	582	broad.mit.edu	37	11	66299150	66299150	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:66299150C>T	uc001oii.1	+	15	1821	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	BBS1_uc001oil.1_Silent_p.L415L|BBS1_uc010rpg.1_Silent_p.L447L|BBS1_uc001oij.1_Silent_p.L544L|BBS1_uc001oik.1_Silent_p.L468L|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Silent_p.L212L	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	544					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TGCCAGGGCTCAACTACCCCC	0.547000									Bardet-Biedl syndrome					56			42		0	0	0.000781405	0	0
CHGB	1114	broad.mit.edu	37	20	5904156	5904156	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:5904156G>A	uc002wmg.3	+	3	1672	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	CHGB_uc010zqz.2_Missense_Mutation_p.A139T	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	456						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GATGGACAAGGCAAGGAGGCA	0.542000														113			17		0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179486283	179486283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179486283G>A	uc021vsy.1	-	193	37789	c.37564C>T	c.(37564-37566)Cag>Tag	p.Q12522*	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.Q6217*|TTN_uc021vta.1_Nonsense_Mutation_p.Q6150*|TTN_uc021vtb.1_Nonsense_Mutation_p.Q6025*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13449	Ig-like 83.						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)			TGAGCGTTCTGAATGACCAGG	0.453000														35			12		0	0	0.00136819	0	0
GADD45G	10912	broad.mit.edu	37	9	92220903	92220903	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:92220903G>C	uc004aqq.3	+	3	499	c.389G>C	c.(388-390)tGg>tCg	p.W130S		NM_006705	NP_006696	O95257	GA45G_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, gamma (GADD45G), mRNA.	130					DNA repair|activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development		protein binding			lung(2)	2						GAGGACGCCTGGAAGGATCCC	0.682000														21			4		0	0	0.000602214	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492686	198492686	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:198492686G>A	uc009wzd.3	-	3	245	c.210C>T	c.(208-210)ggC>ggT	p.G70G	ATP6V1G3_uc001gup.3_Silent_p.G64G|ATP6V1G3_uc001guo.3_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	64					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TATTCTGAGAGCCCATTATCT	0.333000														3			43		0	0	0.000781405	0	0
BTBD9	114781	broad.mit.edu	37	6	38312841	38312841	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:38312841T>C	uc003ooa.4	-	7	1759	c.1183A>G	c.(1183-1185)Aca>Gca	p.T395A	BTBD9_uc010jwv.3_Missense_Mutation_p.T365A|BTBD9_uc003ony.4_Missense_Mutation_p.T327A|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.T395A	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	395					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TTGTTCACTGTGTTGTGAGTC	0.368000														126			19		0	0	0.00188189	0	0
RALGPS1	9649	broad.mit.edu	37	9	129958901	129958901	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:129958901C>T	uc004bqo.2	+	12	1453	c.1186C>T	c.(1186-1188)Ctc>Ttc	p.L396F	RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqq.4_Intron	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	396					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CACCAATGGACTCTCCCTAGG	0.612000														65			62		0	0	0.000781405	0	0
ETV3L	440695	broad.mit.edu	37	1	157062654	157062654	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:157062654C>T	uc001fqq.2	-	4	1158	c.873G>A	c.(871-873)ggG>ggA	p.G291G		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	291						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCTGTCCCAGCCCTGCCAAGA	0.632000														35			11		0	0	0.00185496	0	0
COL22A1	169044	broad.mit.edu	37	8	139668175	139668175	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:139668175G>C	uc003yvd.3	-	44	3745	c.3298C>G	c.(3298-3300)Cta>Gta	p.L1100V	COL22A1_uc011ljo.2_Missense_Mutation_p.L380V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1100	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.S1099L(1)		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)			GGAGACAGTAGTGAAGAGAGG	0.383000										HNSCC(7;0.00092)				394			44		0	0	0.00285205	0	0
ZNF670	93474	broad.mit.edu	37	1	247201092	247201092	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:247201092C>A	uc001icd.2	-	3	1046	c.829G>T	c.(829-831)Gga>Tga	p.G277*	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Nonsense_Mutation_p.G276*	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGTTTTTCTCCAGTATGCGTT	0.418000														147			6		0.00116845	0.00467958	0.00116845	1	0
DUOX2	50506	broad.mit.edu	37	15	45391942	45391942	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:45391942C>T	uc001zun.3	-	24	3536	c.3333G>A	c.(3331-3333)gaG>gaA	p.E1111E	DUOX2_uc010bea.3_Silent_p.E1111E	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1111	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGAGGAAAGTCTCTCGCAGGA	0.567000														51			15		0	0	0.000308642	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093509	30093509	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:30093509C>T	uc010dmc.3	+	0		c.1884C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GCCACAGCAACCGTCACTGCC	0.493000														128			92		0	0	0.000781405	0	0
OR10J3	441911	broad.mit.edu	37	1	159284433	159284433	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:159284433G>A	uc010piu.2	-	0	17	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CACAAAAGTGGAATTTAGCTT	0.433000														227			103		0	0	0.000781405	0	0
IFT140	9742	broad.mit.edu	37	16	1630847	1630848	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:1630847_1630848GG>AA	uc002cmb.3	-	12	1798_1799	c.1436_1437CC>TT	c.(1435-1437)acc>aTT	p.T479I	IFT140_uc002clz.3_Missense_Mutation_p.T130I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	479										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CACACAAGAAGGTCCCTAAAAT	0.495000														19			9		0	0	6.4e-05	0	0
CTSL2	1515	broad.mit.edu	37	9	99798970	99798970	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:99798970G>A	uc010msi.3	-	4	663	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CTSL2_uc004awt.3_Silent_p.F152F|CTSL2_uc004awu.3_Silent_p.F97F|CTSL2_uc010msj.2_Silent_p.F97F|CTSL2_uc010msk.3_Silent_p.F97F	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	152						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CAGTTTTCCGGAACATCTGTC	0.473000														76			98		0	0	0.000781405	0	0
MUCL1	118430	broad.mit.edu	37	12	55248394	55248394	+	Silent	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:55248394T>C	uc001sgk.3	+	0	96	c.28T>C	c.(28-30)Ttg>Ctg	p.L10L		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	10						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						CCTGGTACTCTTGGGAGTTTC	0.428000														48			16		0	0	0.000566183	0	0
FASTK	10922	broad.mit.edu	37	7	150775018	150775018	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:150775018G>A	uc003wix.1	-	4	1085	c.987C>T	c.(985-987)ccC>ccT	p.P329P	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Silent_p.P90P|FASTK_uc003wiy.1_Silent_p.P188P|FASTK_uc003wiz.1_Silent_p.P302P|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	329					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGGCTCTGAAGGGCAGGCACC	0.592000														54			19		0	0	0.00121646	0	0
SCARA5	286133	broad.mit.edu	37	8	27737098	27737098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:27737098G>A	uc003xgj.3	-	7	1950	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	SCARA5_uc010luz.3_Nonsense_Mutation_p.R222*	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	447	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.R447P(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TGCCCGAATCGAGCTGTGCGG	0.617000														88			70		0	0	0.000781405	0	0
FAM135B	51059	broad.mit.edu	37	8	139149490	139149490	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:139149490A>T	uc003yuy.3	-	18	4086	c.3915T>A	c.(3913-3915)ttT>ttA	p.F1305L	FAM135B_uc003yux.3_Missense_Mutation_p.F1206L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1305										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGACGTTTTTAAAATACTGCA	0.428000										HNSCC(54;0.14)				236			23		0	0	0.00047179	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940241	82940241	+	Missense_Mutation	SNP	C	T	T	rs139074313		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:82940241C>T	uc003kim.3	-	2	787	c.716G>A	c.(715-717)gGa>gAa	p.G239E	HAPLN1_uc003kin.3_Missense_Mutation_p.G239E	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	239	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G239E(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATCCCAAAATCCGTAGTTCCT	0.453000														28			63		0	0	0.000781405	0	0
MEI1	150365	broad.mit.edu	37	22	42190482	42190482	+	Splice_Site	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:42190482G>A	uc003baz.1	+	28	3559	c.3534_splice	c.e28+1	p.L1178_splice	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Splice_Site|MEI1_uc003bbb.1_Splice_Site_p.L564_splice|MEI1_uc003bbc.1_Splice_Site_p.L546_splice|MEI1_uc010gym.1_Splice_Site_p.L511_splice|MEI1_uc003bbd.1_Splice_Site_p.L421_splice|MEI1_uc010gyn.1_Splice_Site|MEI1_uc003bbe.1_Splice_Site|MEI1_uc003bbg.2_Splice_Site_p.L192_splice	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1178							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						CATGACCCTGGTAAGTGCAGA	0.498000														115			91		0	0	0.000781405	0	0
MKI67	4288	broad.mit.edu	37	10	129913965	129913965	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:129913965G>A	uc001lke.3	-	6	902	c.707C>T	c.(706-708)cCc>cTc	p.P236L	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	236					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCCAAAAGGGAGATTCATT	0.333000														8			31		0	0	0.001512	0	0
TRPC7	57113	broad.mit.edu	37	5	135692628	135692628	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:135692628C>T	uc003lbn.2	-	1	670	c.448G>A	c.(448-450)Gac>Aac	p.D150N	TRPC7_uc010jef.2_Missense_Mutation_p.D141N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.D150N|TRPC7_uc010jei.2_Missense_Mutation_p.D150N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	150					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.D149D(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCATAGAAGTCGTCGTCGCGC	0.652000														77			32		0	0	0.00058488	0	0
FARS2	10667	broad.mit.edu	37	6	5368854	5368854	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:5368854G>A	uc010jnv.1	+	1	387	c.51G>A	c.(49-51)gtG>gtA	p.V17V	FARS2_uc003mwr.2_Silent_p.V17V	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	17					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	p.L16L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TCTACCTGGTGAGTAAGGCCA	0.567000														57			63		0	0	0.000781405	0	0
GRIP2	80852	broad.mit.edu	37	3	14535176	14535176	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:14535176G>A	uc021wtn.1	-	25	3417	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	1043					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCTGACTTCAGAGCATCCGGG	0.652000														3			14		0	0	0.000422831	0	0
ZNF677	342926	broad.mit.edu	37	19	53740884	53740884	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:53740884C>T	uc002qbg.1	-	4	1247	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	ZNF677_uc002qbf.1_Missense_Mutation_p.E366K	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGAATTCTTTCATGACCCCAA	0.398000														40			15		0	0	0.00244969	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463708	24463708	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:24463708C>T	uc001biq.2	-	2	471	c.268G>A	c.(268-270)Gag>Aag	p.E90K	IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Missense_Mutation_p.E90K	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	90	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TAGTAGAGCTCCGTGAGGTTG	0.617000														29			12		0	0	0.00185496	0	0
ZNF554	115196	broad.mit.edu	37	19	2833900	2833900	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:2833900G>T	uc002lwm.2	+	4	865	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W	ZNF554_uc002lwl.2_Missense_Mutation_p.G172W	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATGGATTTGGGGAAAATGG	0.512000														88			6		8.12818e-05	0.000325935	0.00198382	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419565	105419565	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:105419565C>T	uc010axc.1	-	6	2343	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V641V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	741						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGGAAGTTTCACATCCACTT	0.627000														39			32		0	0	0.00283554	0	0
TENC1	23371	broad.mit.edu	37	12	53449591	53449591	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:53449591C>T	uc001sbp.3	+	9	858	c.723C>T	c.(721-723)atC>atT	p.I241I	LOC283335_uc001sbk.1_5'Flank|TENC1_uc001sbl.3_Silent_p.I117I|TENC1_uc001sbm.3_Silent_p.I281I|TENC1_uc001sbn.3_Silent_p.I251I|TENC1_uc001sbo.1_Silent_p.I241I|TENC1_uc001sbq.3_5'Flank|TENC1_uc001sbr.3_5'Flank	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	241	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TTGGGGTCATCGTTTCTGCCT	0.597000														52			71		0	0	0.000781405	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877078	24877078	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:24877078T>A	uc001wpf.4	+	2	520	c.202T>A	c.(202-204)Tac>Aac	p.Y68N		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	68					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCCAGGAATACCTGAAGGG	0.612000														28			8		0	0	0.000274275	0	0
EIF4B	1975	broad.mit.edu	37	12	53421881	53421881	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:53421881C>T	uc001sbh.4	+	7	1094	c.888C>T	c.(886-888)gaC>gaT	p.D296D	EIF4B_uc010snu.2_Silent_p.D296D|EIF4B_uc010snv.2_Silent_p.D257D	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	296	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGGCGGGGACCGCTATGAAG	0.493000														28			40		0	0	0.000953801	0	0
PRKCA	5578	broad.mit.edu	37	17	64800119	64800119	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:64800119C>T	uc002jfp.1	+	16	2027	c.1983C>T	c.(1981-1983)ccC>ccT	p.P661P		NM_002737	NP_002728	P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	661	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATGTCAACCCCCAGTTTGTGC	0.522000														76			20		0	0	0.00229938	0	0
MBD5	55777	broad.mit.edu	37	2	149227049	149227049	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:149227049G>A	uc002twm.4	+	8	2534	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	513						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TACCAAGTCCGATGGACATCA	0.473000														35			39		0	0	0.00170553	0	0
ABCA13	154664	broad.mit.edu	37	7	48559759	48559759	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:48559759C>T	uc003toq.2	+	52	13944	c.13920C>T	c.(13918-13920)ttC>ttT	p.F4640F	ABCA13_uc010kys.1_Silent_p.F1715F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.F370F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4640					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCACAACTTCGGCATTGATT	0.463000														49			23		0	0	0.00047179	0	0
DUSP26	78986	broad.mit.edu	37	8	33454889	33454889	+	Missense_Mutation	SNP	C	T	T	rs11545082		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:33454889C>T	uc003xjp.3	-	1	478	c.145G>A	c.(145-147)Gag>Aag	p.E49K	DUSP26_uc003xjq.3_Missense_Mutation_p.E49K	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	49						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGGAGCCGCTCCAACTCGAAG	0.582000														41			22		0	0	0.00188189	0	0
NOX5	79400	broad.mit.edu	37	15	69320647	69320647	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:69320647C>T	uc002ars.2	+	2	308	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.L71L|NOX5_uc002arp.2_Silent_p.L71L|NOX5_uc010bid.2_Silent_p.L82L|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.L89L	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	89	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGACCCTGCTCATCCATGGCA	0.557000														44			54		0	0	0.000781405	0	0
ITGA4	3676	broad.mit.edu	37	2	182392032	182392032	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:182392032A>G	uc002unu.3	+	21	3111	c.2348A>G	c.(2347-2349)aAc>aGc	p.N783S	ITGA4_uc010frj.1_Missense_Mutation_p.N265S|ITGA4_uc002unv.3_Missense_Mutation_p.N28S	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	783					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGGTTTGTAAACCCAACTTCA	0.299000														26			6		0	0	0.00116845	0	0
ATP13A4	84239	broad.mit.edu	37	3	193153533	193153533	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:193153533C>T	uc003ftd.3	-	24	2781	c.2673_splice	c.e24-1	p.K891_splice	ATP13A4_uc010hzi.3_Splice_Site	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	891					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACGTCCTTCCCTGTGTAAGA	0.398000														10			81		0	0	0.000781405	0	0
DGCR14	8220	broad.mit.edu	37	22	19121829	19121829	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:19121829G>A	uc002zou.3	-	9	1348	c.1311C>T	c.(1309-1311)acC>acT	p.T437T		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	437					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGCTTGTGGGGGTCTGCAGCC	0.697000														23			13		0	0	0.00244969	0	0
DNAJC5	80331	broad.mit.edu	37	20	62559804	62559804	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:62559804C>T	uc002yhf.3	+	2	340	c.107_splice	c.e2+1	p.R36_splice	DNAJC5_uc002yhh.3_Splice_Site	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	36	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	p.R36W(1)		cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAAGTCCTATCGGTAAGTGGA	0.498000														33			28		0	0	0.001512	0	0
TNRC6B	23112	broad.mit.edu	37	22	40696486	40696486	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:40696486C>T	uc011aor.2	+	12	3947	c.3736C>T	c.(3736-3738)Ccc>Tcc	p.P1246S	TNRC6B_uc003aym.3_Missense_Mutation_p.P442S|TNRC6B_uc003ayn.4_Missense_Mutation_p.P1136S|TNRC6B_uc003ayo.3_Missense_Mutation_p.P993S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1246					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CAAGCAGTTTCCCAACAGTGG	0.403000														17			13		0	0	0.00244969	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314157	67314157	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:67314157C>T	uc010cef.3	+	1	509	c.210C>T	c.(208-210)ttC>ttT	p.F70F	PLEKHG4_uc002eso.4_Silent_p.F70F|PLEKHG4_uc002esp.4_5'UTR|PLEKHG4_uc002esq.4_Silent_p.F70F|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc002ess.4_Silent_p.F70F|PLEKHG4_uc010ceg.3_Silent_p.F70F	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	70					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCAGGAAATTCCAGTTACCCC	0.617000														14			17		0	0	0.00074312	0	0
ZMYM4	9202	broad.mit.edu	37	1	35881156	35881156	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:35881156C>T	uc001byt.3	+	27	4230	c.4150C>T	c.(4150-4152)Ctt>Ttt	p.L1384F	ZMYM4_uc009vuu.3_Missense_Mutation_p.L1352F|ZMYM4_uc001byu.3_Missense_Mutation_p.L1060F|ZMYM4_uc009vuv.3_Missense_Mutation_p.L1123F	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1384					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAACACCCTCCTTTTCTTCAA	0.448000														49			14		0	0	0.000308642	0	0
EIF5	1983	broad.mit.edu	37	14	103805576	103805576	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:103805576A>G	uc001ymt.3	+	7	1307	c.812A>G	c.(811-813)gAt>gGt	p.D271G	EIF5_uc001ymq.3_Missense_Mutation_p.D271G|EIF5_uc001ymr.3_Missense_Mutation_p.D271G|EIF5_uc001ymu.3_Missense_Mutation_p.D271G	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	271	W2.				RNA metabolic process|regulation of translational initiation	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GAAAGACTGGATGTAAAAGCC	0.378000														47			31		0	0	0.00127121	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991268	35991268	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:35991268G>A	uc003jjv.2	-	0	268	c.75C>T	c.(73-75)atC>atT	p.I25I	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.I25I|UGT3A1_uc011cor.2_Silent_p.I25I|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	25						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATTGTCAGGATTTTGGCAG	0.592000														44			48		0	0	0.000781405	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632719	122632719	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:122632719C>T	uc003efz.1	-	14	2422	c.2118G>A	c.(2116-2118)aaG>aaA	p.K706K	SEMA5B_uc011bju.1_Silent_p.K648K|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.K706K|SEMA5B_uc010hro.1_Silent_p.K648K|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	706	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCTCCCGGCTCTTGCCCACGC	0.672000														14			67		0	0	0.000781405	0	0
VRTN	55237	broad.mit.edu	37	14	74824974	74824974	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:74824974G>A	uc021rwl.1	+	0	1488	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	VRTN_uc001xpw.4_Silent_p.E496E	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	496					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCCCGGGGAGCTCCTGCCAC	0.652000														23			16		0	0	0.000308642	0	0
CDON	50937	broad.mit.edu	37	11	125864781	125864781	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:125864781G>A	uc009zbw.3	-	12	2657	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	CDON_uc001qdb.4_Silent_p.I220I|CDON_uc001qdc.4_Silent_p.I843I	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	843	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACTTTAGCATGATCTGAGTAT	0.423000														11			17		0	0	0.000566183	0	0
SLC23A1	9963	broad.mit.edu	37	5	138707828	138707828	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:138707828C>T	uc003leg.3	-	13	1773	c.1676G>A	c.(1675-1677)aGa>aAa	p.R559K	SLC23A1_uc003leh.3_Missense_Mutation_p.R555K	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	555					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AAAGGTAATTCTTTTTACTAT	0.428000														90			26		0	0	0.000720815	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042580	75042580	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:75042580G>A	uc002ayr.1	+	1	565	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	167					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ATGTGAGCAAGGAGGCTAAGG	0.612000														45			61		0	0	0.000781405	0	0
MAP7D1	55700	broad.mit.edu	37	1	36643603	36643604	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:36643603_36643604CC>TT	uc001bzz.3	+	8	1725_1726	c.1509_1510CC>TT	c.(1507-1512)tccccc>tcTTcc	p.P504S	MAP7D1_uc001caa.3_Missense_Mutation_p.P472S|MAP7D1_uc001cab.3_Missense_Mutation_p.P467S|MAP7D1_uc001cac.3_Missense_Mutation_p.P204S|MAP7D1_uc001cad.3_Missense_Mutation_p.P50S	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	504	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCACTGCATCCCCCAAGGGGCG	0.693000														14			6		0	0	6.4e-05	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265495	140265495	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:140265495C>T	uc003etn.3	+	9	1836	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	CLSTN2_uc003etm.2_Missense_Mutation_p.S549F	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	549					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.S549F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACATTAATTCCTTGGAAAGC	0.552000										HNSCC(16;0.037)				3			36		0	0	0.00128727	0	0
OR10G2	26534	broad.mit.edu	37	14	22102916	22102916	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:22102916C>T	uc010tmc.2	-	0	83	c.83G>A	c.(82-84)aGa>aAa	p.R28K		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GAGGAGGCTTCTTAGATTTGG	0.493000														32			31		0	0	0.00209593	0	0
UBR4	23352	broad.mit.edu	37	1	19523652	19523652	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:19523652A>G	uc001bbi.3	-	7	1005	c.1001T>C	c.(1000-1002)cTa>cCa	p.L334P		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	334					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGACAACTTAGGCTGAGGAC	0.408000														41			10		0	0	0.000673444	0	0
SMARCC2	6601	broad.mit.edu	37	12	56561944	56561944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:56561944G>A	uc001skb.3	-	24	2763	c.2657C>T	c.(2656-2658)tCt>tTt	p.S886F	SMARCC2_uc001skd.3_Missense_Mutation_p.S917F|SMARCC2_uc001ska.3_Missense_Mutation_p.S917F|SMARCC2_uc001skc.3_Missense_Mutation_p.S916F|SMARCC2_uc010sqf.2_Missense_Mutation_p.S806F	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	886					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGCCACCAAAGATTTGATCTT	0.517000														34			30		0	0	0.00209593	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471693	47471693	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:47471693C>T	uc001rpm.3	-	2	1748	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.A365T|AMIGO2_uc001rpl.3_Missense_Mutation_p.A365T|AMIGO2_uc021qxg.1_Missense_Mutation_p.A365T	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	365	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TTATTCATTGCGATACAAGAA	0.408000														69			21		0	0	0.00188189	0	0
NRP1	8829	broad.mit.edu	37	10	33559629	33559629	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:33559629G>A	uc001iwx.4	-	2	927	c.404C>T	c.(403-405)tCc>tTc	p.S135F	NRP1_uc001iwv.4_Missense_Mutation_p.S135F|NRP1_uc001iwy.4_Missense_Mutation_p.S135F|NRP1_uc009xlz.3_Missense_Mutation_p.S135F|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Missense_Mutation_p.S135F|NRP1_uc001ixa.2_Missense_Mutation_p.S135F|NRP1_uc001ixb.2_Missense_Mutation_p.S135F|NRP1_uc001ixc.1_Missense_Mutation_p.S135F	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	135	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	p.F134L(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ATAACGTATGGAAAATCCTGC	0.433000														13			31		0	0	0.000814825	0	0
SLC44A4	80736	broad.mit.edu	37	6	31843638	31843639	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:31843638_31843639CC>AA	uc010jti.3	-	3	298_299	c.232_233GG>TT	c.(232-234)ggg>TTg	p.G78L	SLC44A4_uc011dol.2_Missense_Mutation_p.G2L|SLC44A4_uc011dom.2_Missense_Mutation_p.G78L	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	78						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTTGTTCTCCCCCATGCCACAG	0.604000														681			14		0	0	6.4e-05	0	0
LRRC52	440699	broad.mit.edu	37	1	165513699	165513699	+	Silent	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:165513699C>A	uc001gde.2	+	0	222	c.166C>A	c.(166-168)Cgg>Agg	p.R56R	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	56						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCTGAACACCCGGAGGCTGTT	0.473000														77			95		6.65942e-36	2.728e-35	0.000781405	1	0
SREK1	140890	broad.mit.edu	37	5	65466563	65466564	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:65466563_65466564CC>GT	uc003jun.3	+	8	1392_1393	c.1272_1273CC>GT	c.(1270-1275)gaccgg>gaGTgg	p.424_425DR>EW	SREK1_uc010iwy.3_Missense_Mutation_p.308_309DR>EW|SREK1_uc003juo.3_Missense_Mutation_p.308_309DR>EW	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	308	Arg/Glu/Lys/Ser-rich.				RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GGGAAAAGGACCGggaaaaaga	0.446000														4			12		0	0	6.4e-05	0	0
CCDC61	729440	broad.mit.edu	37	19	46498700	46498700	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:46498700C>T	uc002pdw.3	+	1	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F	CCDC61_uc021uwd.1_5'UTR	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AACGCCGGATCCTGGGGCGGG	0.622000														13			4		0	0	0.00024832	0	0
METTL21B	25895	broad.mit.edu	37	12	58174169	58174169	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:58174169C>T	uc001sqg.3	+	2	546	c.421C>T	c.(421-423)Cct>Tct	p.P141S	TSFM_uc021qzq.1_5'Flank|METTL21B_uc001sqf.3_3'UTR|METTL21B_uc009zqd.3_Non-coding_Transcript|TSFM_uc001sqh.3_5'Flank|TSFM_uc001sqi.3_5'Flank|TSFM_uc010ssf.2_5'Flank|TSFM_uc010sse.2_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	Homo sapiens methyltransferase like 21B (METTL21B), transcript variant 1, mRNA.	141						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						TCATGTCTTCCCTGCAAACTA	0.617000														42			21		0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179429624	179429624	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179429624G>A	uc021vsy.1	-	274	73756	c.73531C>T	c.(73531-73533)Cct>Tct	p.P24511S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P18206S|TTN_uc021vta.1_Missense_Mutation_p.P18139S|TTN_uc021vtb.1_Missense_Mutation_p.P18014S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25438	Fibronectin type-III 78.						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)			GTCACAAAAGGAGTTCCAGGT	0.403000														39			6		0	0	0.00116845	0	0
OR2M2	391194	broad.mit.edu	37	1	248343953	248343953	+	Silent	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:248343953T>C	uc010pzf.2	+	0	666	c.666T>C	c.(664-666)atT>atC	p.I222I		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCGAGTTATTCTGGCTGTCA	0.438000														443			11		0	0	0.00244969	0	0
SEC61A2	55176	broad.mit.edu	37	10	12200002	12200002	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:12200002C>T	uc001ile.2	+	8	1020	c.873C>T	c.(871-873)atC>atT	p.I291I	SEC61A2_uc010qbq.1_Silent_p.I269I|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Silent_p.I291I	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	291						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ACATCCCCATCATCCTCCAGT	0.483000														85			420		0	0	0.000781405	0	0
OR2L3	391192	broad.mit.edu	37	1	248224303	248224303	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:248224303G>A	uc001idx.1	+	0	320	c.320G>A	c.(319-321)gGa>gAa	p.G107E	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCGGCATTAGGAGGTGCAGAA	0.438000														117			133		0	0	0.000781405	0	0
CD93	22918	broad.mit.edu	37	20	23064944	23064944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:23064944G>A	uc002wsv.3	-	0	2034	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	629					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGAACCCAGGAGTAACTGTC	0.627000														104			100		0	0	0.000781405	0	0
ARPP21	10777	broad.mit.edu	37	3	35770924	35770924	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:35770924G>A	uc011axy.2	+	12	1465	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	ARPP21_uc003cga.3_Missense_Mutation_p.G398E|ARPP21_uc003cgb.3_Missense_Mutation_p.G452E|ARPP21_uc003cgf.3_Missense_Mutation_p.G253E|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	452	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCAGAGAATGGAATAGGGGGC	0.582000														4			43		0	0	0.000680045	0	0
COL6A6	131873	broad.mit.edu	37	3	130308020	130308020	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:130308020G>A	uc010htl.3	+	10	4243	c.4212G>A	c.(4210-4212)ggG>ggA	p.G1404G	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1404	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCACCAGGGAAAAGGGTGA	0.433000														5			37		0	0	0.00170553	0	0
AARS	16	broad.mit.edu	37	16	70291981	70291981	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:70291981G>A	uc002eyn.1	-	14	2242	c.2132C>T	c.(2131-2133)tCt>tTt	p.S711F	AARS_uc010vlu.1_Missense_Mutation_p.S541F	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	711					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	AGCAGGCCCAGAGGGGTCATC	0.587000														7			6		0	0	0.000157383	0	0
RGS22	26166	broad.mit.edu	37	8	100999713	100999713	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:100999713G>A	uc003yjb.1	-	20	3348	c.3153C>T	c.(3151-3153)ctC>ctT	p.L1051L	RGS22_uc003yja.1_Silent_p.L870L|RGS22_uc003yjc.1_Silent_p.L1039L|RGS22_uc022azf.1_Silent_p.L440L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1051	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTGCCAAAAGAGTAAACCAT	0.323000														77			22		0	0	0.00188189	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870025	36870025	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:36870025C>T	uc002xhy.1	-	2	780	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	KIAA1755_uc002xhz.1_Missense_Mutation_p.E170K	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	170										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATCCCATTTTCTGATGCTACC	0.532000														111			54		0	0	0.000781405	0	0
KLHL20	27252	broad.mit.edu	37	1	173703101	173703101	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:173703101C>T	uc001gjc.3	+	2	452	c.273C>T	c.(271-273)ccC>ccT	p.P91P	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Silent_p.P73P|KLHL20_uc001gjd.3_Silent_p.P91P	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	91	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCTGTAGTCCCTACTTCCGAG	0.478000														74			18		0	0	0.000958276	0	0
LRP5	4041	broad.mit.edu	37	11	68153788	68153788	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:68153788C>T	uc001ont.3	+	5	1095	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	340					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACAGGAGCCGAGGAGGTGC	0.662000														10			20		0	0	0.000720815	0	0
FAM108A1	81926	broad.mit.edu	37	19	1880087	1880087	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:1880087A>C	uc002luf.3	-	3	919	c.513T>G	c.(511-513)aaT>aaG	p.N171K	FAM108A1_uc002lud.3_Intron|FAM108A1_uc002lue.3_Missense_Mutation_p.N120K|FAM108A1_uc002lug.3_Missense_Mutation_p.N120K	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	120						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		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)		GGTCCACGGCATTGCCGTGCG	0.632000														17			10		0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9062981	9062981	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9062981C>T	uc002mkp.3	-	2	24669	c.24465G>A	c.(24463-24465)agG>agA	p.R8155R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8157	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACTTCTGTCCTGGAGACTT	0.542000														49			18		0	0	0.00074312	0	0
TTC7B	145567	broad.mit.edu	37	14	91124667	91124667	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:91124667G>A	uc001xyp.3	-	9	1339	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	406							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGCCATCAGGGACAGAGCAAA	0.448000														36			24		0	0	0.000720815	0	0
FMO1	2326	broad.mit.edu	37	1	171244498	171244498	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:171244498G>T	uc009wvz.3	+	3	471	c.335G>T	c.(334-336)aGt>aTt	p.S112I	FMO1_uc010pme.2_Missense_Mutation_p.S49I|FMO1_uc001ghl.3_Missense_Mutation_p.S112I|FMO1_uc001ghm.3_Missense_Mutation_p.S112I	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	112					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.C111Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAGTCTGCAGTGTAACAAAA	0.408000														43			45		1.63429e-32	6.67783e-32	0.000781405	1	0
METTL22	79091	broad.mit.edu	37	16	8729078	8729078	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:8729078C>T	uc002cyz.3	+	4	885	c.609C>T	c.(607-609)ctC>ctT	p.L203L	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	203							methyltransferase activity			large_intestine(5)|lung(4)	9						GACAGGACCTCTTCCGAGGAT	0.627000														25			37		0	0	0.00111076	0	0
KCNS2	3788	broad.mit.edu	37	8	99441224	99441224	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:99441224G>A	uc003yin.3	+	1	1367	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	KCNS2_uc022azb.1_Silent_p.G339G	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	339						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCTCCGTGGGGATTTCCATCT	0.577000														39			25		0	0	0.000720815	0	0
HIATL1	84641	broad.mit.edu	37	9	97177485	97177485	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:97177485A>G	uc004aur.3	+	1	423	c.154A>G	c.(154-156)Atc>Gtc	p.I52V	HIATL1_uc011luh.2_5'UTR	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	52					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TGCTATTGTCATCTTCCTTGA	0.363000														235			51		0	0	0.000781405	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209198165	209198165	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:209198165C>T	uc002vcz.3	+	23	4248	c.4090C>T	c.(4090-4092)Cat>Tat	p.H1364Y	PIKFYVE_uc002vcy.1_Missense_Mutation_p.H1308Y	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1364					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCACTCCATCCATCATGATTA	0.443000														35			11		0	0	0.000978159	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409732	4409732	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:4409732C>T	uc002mal.3	+	2	1036	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	312	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTCCCTTCCCCACCTCCA	0.627000								Chromatin Structure						20			22		0	0	0.000720815	0	0
EPO	2056	broad.mit.edu	37	7	100320699	100320699	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:100320699C>T	uc003uwi.3	+	4	706	c.525C>T	c.(523-525)ttC>ttT	p.F175F	EPO_uc011kkc.1_Silent_p.F174F	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	175					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	ACTCCAATTTCCTCCGGGGAA	0.572000														60			94		0	0	0.000781405	0	0
PLA2G6	8398	broad.mit.edu	37	22	38512191	38512191	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:38512191G>A	uc003auy.1	-	12	1906	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	PLA2G6_uc003auz.1_Silent_p.D536D|PLA2G6_uc003ava.1_Silent_p.D590D|PLA2G6_uc003avb.2_Silent_p.D536D|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc003aux.1_5'Flank	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	590					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCGGCTGCCGGTCAGACAGTG	0.587000														34			15		0	0	0.000422831	0	0
ANXA1	301	broad.mit.edu	37	9	75781074	75781074	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:75781074G>A	uc004ajf.1	+	9	842	c.768G>A	c.(766-768)ttG>ttA	p.L256L	ANXA1_uc004ajg.1_Silent_p.L256L	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	256					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACCTGGAGTTGAAAGGTGACA	0.353000														40			21		0	0	0.000720815	0	0
AHCYL2	23382	broad.mit.edu	37	7	129019571	129019571	+	Silent	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:129019571T>C	uc011kov.2	+	1	519	c.456T>C	c.(454-456)tcT>tcC	p.S152S	AHCYL2_uc003vot.3_Silent_p.S151S|AHCYL2_uc003vov.3_Silent_p.S49S|AHCYL2_uc011kox.2_Silent_p.S49S	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	152					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CTCAGTCATCTACTGACAGCT	0.473000														28			32		0	0	0.000953801	0	0
EREG	2069	broad.mit.edu	37	4	75231042	75231042	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:75231042G>A	uc003hie.1	+	0	183	c.17G>A	c.(16-18)aGg>aAg	p.R6K	EREG_uc003hid.3_5'UTR	NM_001432	NP_001423	O14944	EREG_HUMAN	Homo sapiens epiregulin (EREG), mRNA.	6					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GCGGGGAGGAGGATGGAGATG	0.701000														15			12		0	0	0.00136819	0	0
GCNT3	9245	broad.mit.edu	37	15	59911631	59911631	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:59911631G>A	uc002age.3	+	2	1643	c.1194G>A	c.(1192-1194)ttG>ttA	p.L398L	GCNT3_uc002agd.3_Silent_p.L398L|GCNT3_uc021smz.1_Silent_p.L398L	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	398					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGGGACTTGAATTGGATGC	0.488000														118			34		0	0	0.00111076	0	0
ARC	23237	broad.mit.edu	37	8	143694666	143694666	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:143694666G>A	uc022bca.1	-	0	967	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	ARC_uc003ywn.1_Nonsense_Mutation_p.Q323*	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	323					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACCACGTACTGGATGATCTCC	0.657000														43			78		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82585272	82585272	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:82585272C>T	uc003uhx.2	-	4	5286	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1666Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1597					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1666Q(3)|p.R1597Q(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTTTAAATCGGCGTAGCCC	0.373000														71			73		0	0	0.000781405	0	0
CPXM1	56265	broad.mit.edu	37	20	2776787	2776787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:2776787C>T	uc002wgu.3	-	9	1337	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*	CPXM1_uc010gas.3_Nonsense_Mutation_p.W421*	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	421					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGCCCTCGGCCCAGCCCACCA	0.602000														55			20		0	0	0.00121646	0	0
TIMD4	91937	broad.mit.edu	37	5	156378734	156378734	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:156378734G>A	uc003lwh.2	-	2	525	c.468C>T	c.(466-468)acC>acT	p.T156T	TIMD4_uc010jii.2_Silent_p.T156T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	156	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGTCGGGTGGTGGTGGGGC	0.532000														292			531		0	0	0.000781405	0	0
GALNT12	79695	broad.mit.edu	37	9	101585614	101585614	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:101585614T>C	uc004ayz.3	+	1	448	c.448T>C	c.(448-450)Tca>Cca	p.S150P		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	150	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TGAAGCCTGGTCAACTCTCCT	0.423000														30			65		0	0	0.000781405	0	0
PTGES2	80142	broad.mit.edu	37	9	130885305	130885305	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:130885305G>A	uc004bti.3	-	4	1273	c.795C>T	c.(793-795)gtC>gtT	p.V265V	PTGES2_uc004btk.3_Silent_p.V74V|PTGES2_uc004btl.3_Silent_p.V74V	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.	265	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TGCCCTCGCGGACAATGTAGT	0.622000														69			36		0	0	0.000814825	0	0
WDR69	164781	broad.mit.edu	37	2	228786229	228786229	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:228786229G>A	uc002vpn.1	+	11	1244	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	WDR69_uc010zlw.1_Missense_Mutation_p.E374K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	389										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCACACTGATGAAATCTTTTC	0.438000														28			22		0	0	0.00278032	0	0
SCN5A	6331	broad.mit.edu	37	3	38592250	38592250	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:38592250C>T	uc021wvo.1	-	26	5665	c.5613G>A	c.(5611-5613)ctG>ctA	p.L1871L	SCN5A_uc021wvk.1_Silent_p.L1838L|SCN5A_uc021wvl.1_Silent_p.L1817L|SCN5A_uc021wvm.1_Silent_p.L1853L|SCN5A_uc021wvn.1_Silent_p.L1870L|SCN5A_uc021wvp.1_Silent_p.L1871L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.L1683L|SCN5A_uc021wvi.1_Silent_p.L1737L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1871					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGGATCTTCAGGGCGTCCA	0.582000														18			112		0	0	0.000781405	0	0
OVGP1	5016	broad.mit.edu	37	1	111957229	111957230	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:111957229_111957230CC>TT	uc001eba.3	-	10	1949_1950	c.1893_1894GG>AA	c.(1891-1896)ccggaa>ccAAaa	p.E632K	OVGP1_uc001eaz.3_Missense_Mutation_p.E594K|OVGP1_uc010owb.2_Missense_Mutation_p.E280K	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	632					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGAGTTTGTTCCGGGAGCTGGA	0.500000														31			36		0	0	6.4e-05	0	0
GRIA1	2890	broad.mit.edu	37	5	153182025	153182025	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:153182025C>T	uc011dcy.2	+	14	2552	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F	GRIA1_uc003lva.4_Missense_Mutation_p.S832F|GRIA1_uc003luy.4_Missense_Mutation_p.S832F|GRIA1_uc003luz.4_Missense_Mutation_p.S737F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S752F|GRIA1_uc011dcx.2_Missense_Mutation_p.S763F|GRIA1_uc011dcz.2_Missense_Mutation_p.S842F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	832					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCTACAAATCCCGTAGTGAA	0.532000														173			47		0	0	0.000781405	0	0
TOB1	10140	broad.mit.edu	37	17	48940475	48940475	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:48940475G>A	uc002isw.3	-	1	1347	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	TOB1_uc021uac.1_Nonsense_Mutation_p.Q163*|TOB1_uc010wmz.2_Nonsense_Mutation_p.Q302*|TOB1_uc021uad.1_Nonsense_Mutation_p.Q302*	NM_005749	NP_005740	P50616	TOB1_HUMAN	Homo sapiens transducer of ERBB2, 1 (TOB1), transcript variant 1, mRNA.	302					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TTACTGTACTGGAGAGGACTG	0.413000														46			55		0	0	0.000781405	0	0
AVIL	10677	broad.mit.edu	37	12	58203401	58203401	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:58203401C>T	uc001sqj.2	-	7	947	c.918G>A	c.(916-918)caG>caA	p.Q306Q	AVIL_uc009zqe.2_Silent_p.Q299Q|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Silent_p.Q283Q|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	306	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ACATGGCTGCCTGTTTTTCAG	0.468000														47			17		0	0	0.00074312	0	0
FAM187B	148109	broad.mit.edu	37	19	35715983	35715983	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:35715983C>T	uc002nyk.1	-	1	900	c.855G>A	c.(853-855)aaG>aaA	p.K285K		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	285						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCACGAAGCACTTGTAGACGG	0.652000														20			8		0	0	0.000274275	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964927	42964927	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:42964927G>A	uc003gwt.3	+	1	404	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	135	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACTGATCTAGAATTTGACCG	0.373000														105			70		0	0	0.000781405	0	0
CASZ1	54897	broad.mit.edu	37	1	10719783	10719783	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:10719783G>A	uc001aro.3	-	5	1636	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	CASZ1_uc001arp.1_Missense_Mutation_p.T439I|CASZ1_uc009vmx.2_Missense_Mutation_p.T463I|CASZ1_uc001arq.1_Missense_Mutation_p.T298I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCCCCGTGGTGATGGAGTC	0.632000														44			23		0	0	0.00278032	0	0
A2ML1	144568	broad.mit.edu	37	12	8982345	8982346	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:8982345_8982346GG>AA	uc001quz.4	+	3	530_531	c.432_433GG>AA	c.(430-435)atggat>atAAat	p.144_145MD>IN		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTGTCACCATGGATAGCAACTT	0.436000														66			23		0	0	6.4e-05	0	0
NEB	4703	broad.mit.edu	37	2	152506779	152506779	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:152506779G>A	uc021vrb.1	-	51	7371	c.7342C>T	c.(7342-7344)Cgt>Tgt	p.R2448C	NEB_uc002txu.3_Missense_Mutation_p.R2448C|NEB_uc021vrc.1_Missense_Mutation_p.R2448C|NEB_uc010fnx.3_Missense_Mutation_p.R2448C|NEB_uc021vrd.1_Missense_Mutation_p.R2448C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2448					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.R2448C(3)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAGGCTGACGATATTTCTTC	0.463000														19			31		0	0	0.0024448	0	0
abParts	0	broad.mit.edu	37	14	106994098	106994098	+	RNA	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:106994098G>T	uc021ser.1	-	233		c.9156C>A								Parts of antibodies, mostly variable regions.																		GACTCCACCAGCTGCACCTCA	0.522000														30			15		2.4624e-09	9.96067e-09	0.00121646	1	0
SLC16A3	9123	broad.mit.edu	37	17	80194685	80194685	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:80194685A>C	uc002kea.3	+	2	454	c.304A>C	c.(304-306)Atg>Ctg	p.M102L	SLC16A3_uc021ufm.1_Missense_Mutation_p.M102L|SLC16A3_uc002keb.3_Missense_Mutation_p.M102L|SLC16A3_uc002kec.3_Missense_Mutation_p.M102L|SLC16A3_uc002ked.3_Missense_Mutation_p.M102L|SLC16A3_uc021ufn.1_Missense_Mutation_p.M102L|SLC16A3_uc021ufo.1_Missense_Mutation_p.M102L	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	102					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GTCGCTGGGCATGGTGGCTGC	0.662000											OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			56		0	0	0.000781405	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000														17			3		0	0	6.4e-05	0	0
KRT82	3888	broad.mit.edu	37	12	52788947	52788947	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:52788947C>T	uc001sai.1	-	8	1469	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	452	Tail.		E -> D (in dbSNP:rs1732263).			keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCACATGGCTCGTACAGGAAG	0.617000														10			5		0	0	0.00116845	0	0
ZNF408	79797	broad.mit.edu	37	11	46726422	46726422	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:46726422G>T	uc001nde.2	+	4	1453	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	ZNF408_uc010rgw.2_Missense_Mutation_p.S383I	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGAGCTATAGCTCAGAGGAG	0.577000														7			36		1.08052e-11	4.39284e-11	0.000814825	1	0
SMC3	9126	broad.mit.edu	37	10	112356234	112356234	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:112356234A>T	uc001kze.3	+	18	2168	c.2042A>T	c.(2041-2043)gAt>gTt	p.D681V		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	681					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTGCAAAAAGATGTTAGAAAA	0.373000														6			35		0	0	0.000953801	0	0
ASAP3	55616	broad.mit.edu	37	1	23760005	23760005	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:23760005C>T	uc001bha.2	-	20	2164	c.2040G>A	c.(2038-2040)ggG>ggA	p.G680G	ASAP3_uc001bgy.1_Silent_p.G184G|ASAP3_uc010odz.1_Silent_p.G549G|ASAP3_uc010oea.1_Silent_p.G671G	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	680					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.A679A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGGCAAAGGTCCCCGCCTGGG	0.592000														93			29		0	0	0.00209593	0	0
NCAPG2	54892	broad.mit.edu	37	7	158473481	158473481	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:158473481T>C	uc011kwe.1	-	9	1097	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	NCAPG2_uc010lqu.1_Missense_Mutation_p.K110E|NCAPG2_uc003wnx.1_Missense_Mutation_p.K318E|NCAPG2_uc003wnv.1_Missense_Mutation_p.K318E|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	318					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGCCGAACTTTCTTTTGATGG	0.328000														80			37		0	0	0.00195071	0	0
COL5A2	1290	broad.mit.edu	37	2	189916152	189916152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:189916152C>T	uc002uqk.3	-	41	3100	c.2825G>A	c.(2824-2826)gGt>gAt	p.G942D	COL5A2_uc010frx.3_Missense_Mutation_p.G518D	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	942					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCACGAAGACCTGGAGGTCC	0.617000														20			8		0	0	0.000274275	0	0
ZNF485	220992	broad.mit.edu	37	10	44111922	44111922	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:44111922C>T	uc010qfc.2	+	4	625	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ZNF485_uc010qfd.2_Missense_Mutation_p.S53F	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TACAATTCGTCCTTTATTAGC	0.418000														11			29		0	0	0.00106085	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578652	44578652	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:44578652C>T	uc003tlb.3	-	1	1400	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	NPC1L1_uc011kbw.2_Silent_p.Q448Q|NPC1L1_uc003tlc.3_Silent_p.Q448Q|NPC1L1_uc003tld.3_Silent_p.Q448Q	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	448					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAGCCTCTCCTGCAGCTCTA	0.602000														24			19		0	0	0.000958276	0	0
ZNF638	27332	broad.mit.edu	37	2	71592693	71592694	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:71592693_71592694CC>TT	uc002shx.3	+	5	2175_2176	c.1852_1853CC>TT	c.(1852-1854)cca>TTa	p.P618L	ZNF638_uc010fec.2_Missense_Mutation_p.P724L|ZNF638_uc010yqw.1_Missense_Mutation_p.P197L|ZNF638_uc002shw.3_Missense_Mutation_p.P618L|ZNF638_uc002shz.3_Missense_Mutation_p.P618L|ZNF638_uc002shy.3_Missense_Mutation_p.P618L|ZNF638_uc002sia.3_Missense_Mutation_p.P618L|ZNF638_uc002sib.1_Missense_Mutation_p.P618L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	618					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGGAACAAAACCATCAGTTAAA	0.386000														11			7		0	0	6.4e-05	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10863030	10863031	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:10863030_10863031CT>TG	uc002ras.3	+	1	164_165	c.55_56CT>TG	c.(55-57)ctg>TGg	p.L19W	ATP6V1C2_uc002rat.3_Missense_Mutation_p.L19W	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	19					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TTTGCAAGCTCTGGAGAGGATG	0.436000														37			5		0	0	6.4e-05	0	0
ZNF276	92822	broad.mit.edu	37	16	89789687	89789688	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:89789687_89789688CC>TT	uc002fos.4	+	3	673_674	c.576_577CC>TT	c.(574-579)agcccc>agTTcc	p.P193S	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_5'UTR|ZNF276_uc002foq.4_Missense_Mutation_p.P118S|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_5'UTR|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.P31S|ZNF276_uc010cit.2_5'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCACATCCAGCCCCCAGTGCCT	0.653000														16			18		0	0	6.4e-05	0	0
SI	6476	broad.mit.edu	37	3	164748616	164748616	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:164748616T>C	uc003fei.3	-	24	2839	c.2776A>G	c.(2776-2778)Aac>Gac	p.N926D		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	926	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACACTAAAGTTTCTTCCAAGA	0.294000										HNSCC(35;0.089)				14			73		0	0	0.000781405	0	0
TBX19	9095	broad.mit.edu	37	1	168260457	168260457	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:168260457C>T	uc001gfl.3	+	1	314	c.263C>T	c.(262-264)tCc>tTc	p.S88F	TBX19_uc001gfj.4_Missense_Mutation_p.S19F	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	88					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCATGTACTCCCTCCTGCTG	0.552000														61			58		0	0	0.000781405	0	0
GRM5	2915	broad.mit.edu	37	11	88241888	88241888	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:88241888C>T	uc001pcq.3	-	8	3711	c.3511G>A	c.(3511-3513)Gac>Aac	p.D1171N	GRM5_uc009yvm.3_Missense_Mutation_p.D1139N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	1171					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCCACCGAGTCTCTGAAGGGG	0.667000														1			8		0	0	0.000274275	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588590	140588590	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140588590G>A	uc003liz.3	+	0	300	c.111G>A	c.(109-111)gaG>gaA	p.E37E	PCDHB12_uc011dak.2_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	37	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.M36T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGATGGAGGAATTGCAGA	0.527000														46			96		0	0	0.000781405	0	0
SLC35F2	54733	broad.mit.edu	37	11	107686587	107686587	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:107686587G>T	uc001pjq.3	-	1	636	c.215C>A	c.(214-216)cCc>cAc	p.P72H	SLC35F2_uc010rvu.2_Intron|SLC35F2_uc001pjs.3_Missense_Mutation_p.P72H	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	72					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CTGAAGCATGGGGGTGTTCAC	0.398000														42			23		3.7963e-18	1.54924e-17	0.00047179	1	0
SPAG9	9043	broad.mit.edu	37	17	49118926	49118926	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:49118926G>A	uc002itc.3	-	4	886	c.677C>T	c.(676-678)aCc>aTc	p.T226I	SPAG9_uc002itd.3_Missense_Mutation_p.T226I|SPAG9_uc002itb.3_Missense_Mutation_p.T226I|SPAG9_uc002itf.3_Missense_Mutation_p.T61I|SPAG9_uc002ita.3_Missense_Mutation_p.T83I|SPAG9_uc002ite.3_Missense_Mutation_p.T56I|SPAG9_uc002itg.3_Missense_Mutation_p.T83I	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	226					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGATCCAGGGGTCTCTCCTCC	0.423000														57			16		0	0	0.000308642	0	0
FAT3	120114	broad.mit.edu	37	11	92624019	92624019	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:92624019G>A	uc001pdj.4	+	24	13431	c.13414G>A	c.(13414-13416)Gat>Aat	p.D4472N	FAT3_uc001pdi.4_Missense_Mutation_p.D944N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4504	Pro-rich.				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)				CAACGAAACGGATTTGGTGGG	0.587000										TCGA Ovarian(4;0.039)				53			212		0	0	0.000781405	0	0
SRRM2	23524	broad.mit.edu	37	16	2815758	2815759	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:2815758_2815759CC>TT	uc002crk.3	+	10	5778_5779	c.5229_5230CC>TT	c.(5227-5232)cgccga>cgTTga	p.R1744*	SRRM2_uc002crj.1_Nonsense_Mutation_p.R1648*|SRRM2_uc002crl.1_Nonsense_Mutation_p.R1744*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.R1648*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1744	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGTCTTCACGCCGACGGCGCTC	0.604000														33			11		0	0	6.4e-05	0	0
AXIN2	8313	broad.mit.edu	37	17	63545770	63545770	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:63545770T>C	uc002jfi.3	-	2	1113	c.824A>G	c.(823-825)aAg>aGg	p.K275R	AXIN2_uc010den.1_Missense_Mutation_p.K275R|AXIN2_uc002jfh.3_Missense_Mutation_p.K275R	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	275					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ATCGCTCCTCTTGAAGGACCT	0.517000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					10			3		0	0	0.00024832	0	0
RPS27A	6233	broad.mit.edu	37	2	55459989	55459989	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:55459989G>A	uc010yow.2	+	1	252	c.29G>A	c.(28-30)gGg>gAg	p.G10E	C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.3_Missense_Mutation_p.G10E|RPS27A_uc021vhs.1_Missense_Mutation_p.G10E	NM_001135592	NP_002945	P62979	RS27A_HUMAN	Homo sapiens ribosomal protein S27a (RPS27A), transcript variant 2, mRNA.	10	Ubiquitin-like.				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|endocrine pancreas development|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						ACCCTTACGGGGAAGACCATC	0.542000														16			8		0	0	0.000274275	0	0
COL11A1	1301	broad.mit.edu	37	1	103468307	103468307	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:103468307T>C	uc001dum.3	-	21	2393	c.2075A>G	c.(2074-2076)aAc>aGc	p.N692S	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.N680S|COL11A1_uc001dun.3_Missense_Mutation_p.N641S|COL11A1_uc009weh.3_Missense_Mutation_p.N564S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	680	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATACCATGTTCCCTTTTGG	0.313000														43			32		0	0	0.00283554	0	0
TRIM49	57093	broad.mit.edu	37	11	89531552	89531552	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:89531552C>T	uc001pdb.3	-	7	1434	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	369	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTATCTTCTCATTCTGATTC	0.433000														14			25		0	0	0.00106085	0	0
CD99L2	83692	broad.mit.edu	37	X	149963941	149963941	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:149963941G>A	uc004fek.3	-	4	536	c.308C>T	c.(307-309)aCc>aTc	p.T103I	CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.T99I|CD99L2_uc004fem.3_Missense_Mutation_p.T50I|CD99L2_uc004fen.3_Intron	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	99					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCGTGGTGGTTACATGGTT	0.512000														12			59		0	0	0.000781405	0	0
PIF1	80119	broad.mit.edu	37	15	65112147	65112147	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:65112147G>A	uc002ant.2	-	7	1298	c.1232C>T	c.(1231-1233)gCt>gTt	p.A411V	PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Missense_Mutation_p.A102V|PIF1_uc010uiq.1_Missense_Mutation_p.A411V	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	411	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTTGTGGGAAGCTGTGGCCTG	0.642000														69			15		0	0	0.000566183	0	0
TMEM48	55706	broad.mit.edu	37	1	54284741	54284742	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:54284741_54284742GA>AC	uc001cvs.3	-	5	896_897	c.605_606TC>GT	c.(604-606)ttc>tGT	p.F202C	TMEM48_uc010onu.2_Missense_Mutation_p.F162C|TMEM48_uc001cvt.3_Missense_Mutation_p.F79C|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	202					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TAAAACGCAAGAACTTGTATTG	0.332000														37			11		0	0	6.4e-05	0	0
FOXN2	3344	broad.mit.edu	37	2	48602121	48602121	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:48602121C>T	uc002rwh.1	+	6	1150	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	279					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CAATGCATTTCATCATCCCAG	0.408000														9			17		0	0	0.000422831	0	0
MCM4	4173	broad.mit.edu	37	8	48883220	48883220	+	Silent	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:48883220C>A	uc003xqk.2	+	11	2410	c.1584C>A	c.(1582-1584)ccC>ccA	p.P528P	MCM4_uc003xql.2_Silent_p.P528P|MCM4_uc011ldi.2_Silent_p.P515P	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	528	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACCTCGTCCCCAGGGGCCAGT	0.582000														30			22		5.45024e-15	2.22139e-14	0.00047179	1	0
PDE8A	5151	broad.mit.edu	37	15	85660972	85660972	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:85660972G>A	uc002blh.3	+	16	1825	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	PDE8A_uc021stv.1_Missense_Mutation_p.E474K|PDE8A_uc002bli.3_Missense_Mutation_p.E500K|PDE8A_uc010bnc.3_Missense_Mutation_p.E299K|PDE8A_uc010bnd.3_Missense_Mutation_p.E299K|PDE8A_uc002blj.3_Missense_Mutation_p.E166K|PDE8A_uc002blk.3_Missense_Mutation_p.E166K|PDE8A_uc002bll.3_5'Flank	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	546	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ACAAATTATCGAAGCCAATTA	0.413000														150			57		0	0	0.000781405	0	0
MLLT1	4298	broad.mit.edu	37	19	6270714	6270714	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:6270714G>A	uc002mek.3	-	1	233	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	23	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCTCCGTGGTGGGCTTCTTGC	0.617000			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			8		0	0	0.000978159	0	0
STAP1	26228	broad.mit.edu	37	4	68424572	68424572	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:68424572C>T	uc003hde.4	+	0	127	c.45C>T	c.(43-45)ttC>ttT	p.F15F	STAP1_uc003hdf.3_Silent_p.F15F	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	15					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GCAGGATCTTCCAGGAAAGGT	0.423000														81			55		0	0	0.000781405	0	0
CDH17	1015	broad.mit.edu	37	8	95186112	95186112	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:95186112G>A	uc003ygh.2	-	6	821	c.696C>T	c.(694-696)atC>atT	p.I232I	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.I232I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	232	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTGTCACTATGATATCCACAG	0.443000														78			64		0	0	0.000781405	0	0
CHRM2	1129	broad.mit.edu	37	7	136699707	136699707	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:136699707C>T	uc003vtf.1	+	3	718	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CHRM2_uc003vtg.1_Missense_Mutation_p.S32F|CHRM2_uc003vti.1_Missense_Mutation_p.S32F|CHRM2_uc003vtm.1_Missense_Mutation_p.S32F|CHRM2_uc003vtj.1_Missense_Mutation_p.S32F|CHRM2_uc003vtk.1_Missense_Mutation_p.S32F|CHRM2_uc003vtl.1_Missense_Mutation_p.S32F|CHRM2_uc003vtn.1_Missense_Mutation_p.S32F|CHRM2_uc003vto.1_Missense_Mutation_p.S32F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S32F	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	32					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGGCTGGATCCCTCAGTTTG	0.423000														84			30		0	0	0.00106085	0	0
TAL1	6886	broad.mit.edu	37	1	47685531	47685531	+	Missense_Mutation	SNP	G	A	A	rs146355469		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:47685531G>A	uc001cqx.2	-	3	1434	c.857C>T	c.(856-858)tCc>tTc	p.S286F	TAL1_uc009vyq.2_Missense_Mutation_p.P43S|TAL1_uc001cqy.2_Missense_Mutation_p.S286F	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	286					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAGTTGGGGGAAAGCACGTC	0.711000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									33			7		0	0	0.000157383	0	0
ARID5B	84159	broad.mit.edu	37	10	63852296	63852296	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:63852296G>A	uc001jlt.2	+	9	3530	c.3074G>A	c.(3073-3075)gGg>gAg	p.G1025E	ARID5B_uc001jlu.2_Missense_Mutation_p.G782E	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1025					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.G1025R(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GTGATTGCAGGGAAAAAGGCC	0.597000														16			50		0	0	0.000781405	0	0
GPR148	344561	broad.mit.edu	37	2	131487758	131487758	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:131487758C>T	uc002trv.2	+	0	1116	c.1034C>T	c.(1033-1035)aCc>aTc	p.T345I		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	345						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GCCATCTTTACCATTTCCTAG	0.527000														3			4		0	0	0.00116845	0	0
DENND2C	163259	broad.mit.edu	37	1	115078991	115078991	+	RNA	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:115078991G>A	uc001eez.3	-	28		c.4652C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCATCAAGGGCAGCAGCAC	0.532000														23			9		0	0	0.000274275	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337364	13337364	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:13337364C>T	uc010ned.3	-	0	1155	c.690G>A	c.(688-690)caG>caA	p.Q230Q		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	230					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CAAGGGCCCTCTGAAAATCCT	0.413000														40			222		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9046744	9046745	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9046744_9046745CC>TT	uc002mkp.3	-	4	35090_35091	c.34886_34887GG>AA	c.(34885-34887)ggg>gAA	p.G11629E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11631	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTCACTACCCCTGGTATACT	0.520000														37			29		0	0	6.4e-05	0	0
SAMD15	161394	broad.mit.edu	37	14	77846786	77846786	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:77846786C>T	uc001xtq.1	+	1	1750	c.1750C>T	c.(1750-1752)Ctc>Ttc	p.L584F		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	584	SAM.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCTCAAACCTCCCTCAGAT	0.428000														13			13		0	0	0.000308642	0	0
CSMD3	114788	broad.mit.edu	37	8	113308134	113308134	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:113308134G>A	uc003ynu.3	-	53	8701	c.8542C>T	c.(8542-8544)Cga>Tga	p.R2848*	CSMD3_uc003yns.3_Nonsense_Mutation_p.R2050*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.R2808*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.R2679*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2848	Sushi 18.					integral to membrane|plasma membrane		p.F2847I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAATCAATCGAAAACCAGGA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				37			26		0	0	0.000720815	0	0
MYO5B	4645	broad.mit.edu	37	18	47527697	47527697	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:47527697G>A	uc002leb.2	-	4	828	c.540C>T	c.(538-540)ttC>ttT	p.F180F	MYO5B_uc021ukb.1_Silent_p.F179F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	180	Myosin head-like.				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)		CAACGGTGGCGAAATAGCGCA	0.532000														73			69		0	0	0.000781405	0	0
FOXP1	27086	broad.mit.edu	37	3	71161711	71161711	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:71161711C>T	uc003dol.3	-	2	581	c.258G>A	c.(256-258)agG>agA	p.R86R	FOXP1_uc003dom.3_Silent_p.R86R|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.R86R|FOXP1_uc003doo.3_Silent_p.R86R|FOXP1_uc003dop.3_Silent_p.R86R|FOXP1_uc021xao.1_Silent_p.R86R|FOXP1_uc003doq.1_Silent_p.R86R|FOXP1_uc003dok.3_Silent_p.R88R|FOXP1_uc003doj.3_Silent_p.R88R	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	86	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTTGTCATTCCTCTTGGGAG	0.413000			T	PAX5	ALL									22			122		0	0	0.000781405	0	0
ING2	3622	broad.mit.edu	37	4	184432048	184432048	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:184432048T>A	uc003ivs.1	+	1	915	c.786T>A	c.(784-786)aaT>aaA	p.N262K	ING2_uc011ckk.1_Missense_Mutation_p.N222K	NM_001564	NP_001555	Q9H160	ING2_HUMAN	Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.	262					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	DNA binding|chromatin binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGGGAGATAATGAGAAAACAA	0.353000														24			14		0	0	0.00185496	0	0
ZNF609	23060	broad.mit.edu	37	15	64915245	64915245	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:64915245G>A	uc002ann.3	+	1	967	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	323						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGGAAACAGAAGATGGTAA	0.512000														43			10		0	0	0.000673444	0	0
SSTR2	6752	broad.mit.edu	37	17	71166474	71166474	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:71166474A>T	uc002jje.3	+	1	1376	c.1016A>T	c.(1015-1017)gAg>gTg	p.E339V	SSTR2_uc021ucm.1_Missense_Mutation_p.E339V	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	339					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GATGATGGGGAGCGGAGTGAC	0.522000														51			14		0	0	0.000308642	0	0
UNC5D	137970	broad.mit.edu	37	8	35583765	35583765	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:35583765G>A	uc003xjr.2	+	9	1727	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	UNC5D_uc003xjs.2_Missense_Mutation_p.E462K|UNC5D_uc003xju.2_Missense_Mutation_p.E43K|UNC5D_uc003xjt.1_Missense_Mutation_p.E225K	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	467					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCTGGACAAGGAGCTCATGAC	0.532000														36			35		0	0	0.00283554	0	0
CELSR3	1951	broad.mit.edu	37	3	48698913	48698913	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:48698913G>A	uc003cuf.1	-	2	1365	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	CELSR3_uc003cul.3_Silent_p.I385I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	385	Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCCGTACGGATAAGGCCGC	0.697000														22			16		0	0	0.000422831	0	0
ESRRB	2103	broad.mit.edu	37	14	76928933	76928933	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:76928933C>T	uc001xsr.3	+	4	814	c.443C>T	c.(442-444)aCc>aTc	p.T148I	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.T148I	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCGAGATCACCAAACGGAGG	0.622000														25			26		0	0	0.000720815	0	0
SOGA2	23255	broad.mit.edu	37	18	8720455	8720455	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:8720455C>T	uc002knr.2	+	3	460	c.318C>T	c.(316-318)tcC>tcT	p.S106S	SOGA2_uc002knq.2_Silent_p.S106S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	457																	TGGAAATATCCAAACAGGCCC	0.488000														39			21		0	0	0.00278032	0	0
NOX5	79400	broad.mit.edu	37	15	69329473	69329473	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:69329473C>T	uc002ars.2	+	7	1335	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.L386L|NOX5_uc002arp.2_Silent_p.L414L|NOX5_uc010bid.2_Silent_p.L397L|NOX5_uc010bie.2_Silent_p.L232L|NOX5_uc002arr.2_Silent_p.L404L|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	432	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTTGTTTTTCCTGGAGAAGGC	0.567000														64			25		0	0	0.00127121	0	0
LPHN1	22859	broad.mit.edu	37	19	14263373	14263373	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:14263373G>C	uc010xnn.2	-	20	3787	c.3491C>G	c.(3490-3492)tCc>tGc	p.S1164C	LPHN1_uc010xno.2_Missense_Mutation_p.S1159C|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCCATGAAGGAGGACTCCGT	0.587000														6			12		0	0	0.000422831	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580243	77580243	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:77580243C>T	uc001xtd.3	+	3	961	c.782C>T	c.(781-783)tCc>tTc	p.S261F	KIAA1737_uc001xtc.1_Missense_Mutation_p.S163F	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	261										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		ACCTTCGCTTCCCCCGCCAGT	0.567000														27			14		0	0	0.00244969	0	0
FAM58A	92002	broad.mit.edu	37	X	152860083	152860083	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:152860083G>A	uc011myr.2	-	3	450	c.339C>T	c.(337-339)ctC>ctT	p.L113L	FAM58A_uc011mys.2_Silent_p.L113L	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	117					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTCCCGGAGTTCCCAGA	0.567000														2			32		0	0	0.0024448	0	0
ZNF157	7712	broad.mit.edu	37	X	47271947	47271947	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:47271947G>A	uc004dhr.1	+	3	544	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	159					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACCCAGAGGAGATAAAAACTT	0.383000														2			28		0	0	0.00106085	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890751	31890751	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:31890751C>T	uc002wyw.1	+	10	1172	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	BPIFB1_uc002wyx.1_Non-coding_Transcript	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	337						extracellular space	lipid binding										CTACCCAGATCGTGAAGATCC	0.552000														56			33		0	0	0.000814825	0	0
IGJ	3512	broad.mit.edu	37	4	71522094	71522094	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:71522094G>A	uc010ihz.3	-	4	621	c.480C>T	c.(478-480)acC>acT	p.T160T	IGJ_uc003hfn.4_Silent_p.T144T	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	144					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CCACCATTTTGGTCTCACCAC	0.448000														39			38		0	0	0.00222228	0	0
EZH1	2145	broad.mit.edu	37	17	40870572	40870572	+	Silent	SNP	G	A	A	rs144940655		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:40870572G>A	uc010wgu.2	-	7	885	c.849C>T	c.(847-849)atC>atT	p.I283I	EZH1_uc002iaz.3_Silent_p.I277I|EZH1_uc002iba.3_Silent_p.I268I|EZH1_uc010wgt.2_Silent_p.I207I|EZH1_uc010wgv.2_Silent_p.I237I|EZH1_uc010wgw.2_Silent_p.I138I|EZH1_uc010cyp.2_Silent_p.I178I|EZH1_uc010cyq.2_Silent_p.I194I|EZH1_uc010cys.2_Silent_p.I228I|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_Intron	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	277					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGGGGCCATCGATGTTGGGTG	0.502000														32			17		0	0	0.00121646	0	0
GRN	2896	broad.mit.edu	37	17	42426541	42426541	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42426541C>T	uc002igp.1	+	1	228	c.9C>T	c.(7-9)acC>acT	p.T3T	GRN_uc002igq.1_Silent_p.T3T	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	3					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCATGTGGACCCTGGTGAGCT	0.622000														35			28		0	0	0.00058488	0	0
CEP350	9857	broad.mit.edu	37	1	179991953	179991953	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:179991953C>T	uc001gnt.3	+	12	3739	c.3356C>T	c.(3355-3357)tCg>tTg	p.S1119L	CEP350_uc009wxl.2_Missense_Mutation_p.S1118L|CEP350_uc001gnu.3_Missense_Mutation_p.S953L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1119	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTGGGACTTCGACAGAAAAA	0.403000														1			14		0	0	0.00244969	0	0
RP1	6101	broad.mit.edu	37	8	55542301	55542301	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:55542301G>A	uc003xsd.1	+	3	6007	c.5859G>A	c.(5857-5859)atG>atA	p.M1953I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1953					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)			ATTTATGGATGAAAATACACC	0.333000														48			30		0	0	0.00283554	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166773	140166773	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140166773G>A	uc003lhb.2	+	0	898	c.898G>A	c.(898-900)Gga>Aga	p.G300R	PCDHAC2_uc003lha.2_Missense_Mutation_p.G300R|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G300R	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	315	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAGCTCAGGAGAAATTAG	0.368000														50			56		0	0	0.000781405	0	0
BAG4	9530	broad.mit.edu	37	8	38065273	38065273	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:38065273C>T	uc003xky.2	+	2	904	c.622C>T	c.(622-624)Ccg>Tcg	p.P208S	BAG4_uc003xkz.2_Missense_Mutation_p.P172S	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	208					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TCCAGGATATCCGCCTTCACA	0.478000														26			43		0	0	0.00222228	0	0
PRDM10	56980	broad.mit.edu	37	11	129814858	129814858	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:129814858G>A	uc001qfm.3	-	5	802	c.570C>T	c.(568-570)ggC>ggT	p.G190G	PRDM10_uc001qfj.3_Silent_p.G104G|PRDM10_uc001qfk.3_Silent_p.G104G|PRDM10_uc001qfl.3_Silent_p.G104G|PRDM10_uc010sbx.2_Silent_p.G104G|PRDM10_uc001qfn.3_Silent_p.G190G|PRDM10_uc009zct.1_Silent_p.G222G	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGTGCAAGGGGCCGTGCTTCG	0.587000														3			20		0	0	0.00121646	0	0
TYW1	55253	broad.mit.edu	37	7	66703421	66703421	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:66703421C>T	uc003tvn.3	+	15	2253	c.2104C>T	c.(2104-2106)Cac>Tac	p.H702Y	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Missense_Mutation_p.H316Y|PMS2P4_uc003tvo.2_Intron	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	702					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGAACTCCTCACTGGGCATT	0.428000														48			57		0	0	0.000781405	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272216	139272216	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:139272216G>A	uc004chh.3	-	20	4072	c.4063C>T	c.(4063-4065)Ctc>Ttc	p.L1355F		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1355	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TTGTCCTGGAGCTGCCCCCGC	0.731000														9			13		0	0	0.00136819	0	0
DSP	1832	broad.mit.edu	37	6	7584759	7584759	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:7584759G>A	uc003mxp.1	+	23	7543	c.7264G>A	c.(7264-7266)Gaa>Aaa	p.E2422K	DSP_uc003mxq.1_Missense_Mutation_p.E1823K|DSP_uc021yle.1_Missense_Mutation_p.E1979K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2422	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAACACTGAAGAAAATCTTAC	0.403000														59			99		0	0	0.000781405	0	0
RFX6	222546	broad.mit.edu	37	6	117245947	117245947	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:117245947G>A	uc003pxm.3	+	14	1734	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	557					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTATATGAAGAATTCAGGTA	0.308000														5			12		0	0	0.00136819	0	0
ANO2	57101	broad.mit.edu	37	12	5963294	5963294	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:5963294C>T	uc001qnm.2	-	3	608	c.536G>A	c.(535-537)gGa>gAa	p.G179E	ANO2_uc021qtt.1_Missense_Mutation_p.G183E	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	183						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AAAGATGGATCCCTGGCTTTT	0.453000														82			132		0	0	0.000781405	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68140256	68140256	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:68140256C>T	uc003xxo.2	-	24	3923	c.3533G>A	c.(3532-3534)gGa>gAa	p.G1178E	ARFGEF1_uc003xxl.1_Missense_Mutation_p.G632E|ARFGEF1_uc003xxn.2_Missense_Mutation_p.G161E	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1178					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTTATTCTTCCCATGTTGTA	0.328000														78			9		0	0	0.000442599	0	0
OPRK1	4986	broad.mit.edu	37	8	54141918	54141918	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:54141918C>T	uc003xrh.1	-	2	1457	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	OPRK1_uc022aup.1_Missense_Mutation_p.R241Q|OPRK1_uc003xri.1_Missense_Mutation_p.R361Q|OPRK1_uc010lyc.1_Missense_Mutation_p.R272Q	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	361					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.R361Q(2)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AACTGTATTTCGGACTCTGCT	0.478000														63			57		0	0	0.000781405	0	0
CCDC8	83987	broad.mit.edu	37	19	46915027	46915027	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:46915027G>A	uc002pep.3	-	0	1893	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	347						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCAGCTGGGGCCCCTGCCC	0.627000														66			59		0	0	0.000781405	0	0
RSPH9	221421	broad.mit.edu	37	6	43638590	43638591	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:43638590_43638591GG>AA	uc003ovx.2	+	5	856_857	c.787_788GG>AA	c.(787-789)ggg>AAg	p.G263K	RSPH9_uc003ovw.2_Missense_Mutation_p.G246S	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTCTGGCCGGGCCTCACCTT	0.594000									Kartagener syndrome					37			61		0	0	6.4e-05	0	0
MAK	4117	broad.mit.edu	37	6	10770427	10770427	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:10770427C>T	uc021ylk.1	-	13	1991	c.1709G>A	c.(1708-1710)gGa>gAa	p.G570E	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Non-coding_Transcript|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.G545E|MAK_uc021yll.1_Intron	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	545					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGGAATATATCCTGACTGATT	0.398000														51			87		0	0	0.000781405	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107515294	107515294	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:107515294G>C	uc004bch.1	+	2	484	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	NIPSNAP3B_uc011lvt.2_Missense_Mutation_p.E127Q|NIPSNAP3B_uc011lvu.1_Missense_Mutation_p.E127Q	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.	127										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						ACAAGAGAGTGAGATTACTTA	0.373000														63			81		0	0	0.000781405	0	0
MYO7B	4648	broad.mit.edu	37	2	128324343	128324343	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:128324343C>T	uc002top.3	+	4	464	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	137	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)		TCTTTGCCATCGCCAACAACT	0.597000														11			5		0	0	0.00116845	0	0
ZNF177	7730	broad.mit.edu	37	19	9489680	9489680	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9489680G>A	uc021uon.1	+	2	237	c.76G>A	c.(76-78)Gag>Aag	p.E26K	ZNF177_uc002mli.3_Missense_Mutation_p.E26K|ZNF177_uc002mlj.3_Missense_Mutation_p.E26K|ZNF177_uc002mlk.3_Missense_Mutation_p.E26K	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	26	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTTTCCCAGGAGGAGTGGGC	0.458000														59			20		0	0	0.00188189	0	0
KRT71	112802	broad.mit.edu	37	12	52940176	52940176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:52940176C>T	uc001sao.3	-	6	1289	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	407	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CGCGCCAGCTCCTCCTTGGCC	0.652000														22			24		0	0	0.00229938	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900676	112900676	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:112900676C>T	uc004bei.2	+	8	3740	c.3548C>T	c.(3547-3549)tCc>tTc	p.S1183F	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.S951F|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.S951F|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.S761F|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.S809F|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.S809F|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.S769F|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.S720F|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.S720F	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	720							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CGGACTTTGTCCATGATTGAG	0.542000														69			27		0	0	0.000720815	0	0
SERPINB2	5055	broad.mit.edu	37	18	61602223	61602224	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:61602223_61602224CC>TT	uc010xev.2	+	7	1031_1032	c.941_942CC>TT	c.(940-942)gcc>gTT	p.A314V	SERPINB2_uc010xew.2_Missense_Mutation_p.A314V	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	332					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGAGTGATGCCTTCAGCCAAA	0.416000														30			17		0	0	6.4e-05	0	0
RYR1	6261	broad.mit.edu	37	19	39001408	39001408	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:39001408G>A	uc002oit.3	+	59	9239	c.9109G>A	c.(9109-9111)Gaa>Aaa	p.E3037K	RYR1_uc002oiu.3_Missense_Mutation_p.E3037K|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3037					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAAGGAGAAGGAAATGATCAC	0.577000														28			33		0	0	0.00209593	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354013	45354013	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:45354013C>T	uc002xsl.3	+	1	435	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	113						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTCGCCATTTCCCTCTCCTCC	0.662000														72			44		0	0	0.00222228	0	0
RHBDF1	64285	broad.mit.edu	37	16	108679	108679	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:108679C>T	uc002cfl.4	-	17	2371	c.2228G>A	c.(2227-2229)cGg>cAg	p.R743Q		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	743					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACGCCAGGGCCGCGCCAGGAT	0.622000														29			12		0	0	0.000978159	0	0
SPTB	6710	broad.mit.edu	37	14	65262067	65262067	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:65262067C>T	uc001xht.3	-	10	1683	c.1632G>A	c.(1630-1632)atG>atA	p.M544I	SPTB_uc001xhr.3_Missense_Mutation_p.M544I|SPTB_uc001xhs.3_Missense_Mutation_p.M544I|SPTB_uc001xhu.3_Missense_Mutation_p.M544I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	544					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGATCTCATCCATCCAGTCGA	0.632000														18			4		0	0	0.00116845	0	0
ASXL1	171023	broad.mit.edu	37	20	31024332	31024332	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:31024332C>T	uc021wbw.1	+	12	4249	c.3817C>T	c.(3817-3819)Cgt>Tgt	p.R1273C	ASXL1_uc002wxs.3_Missense_Mutation_p.R1272C|ASXL1_uc010geb.3_Missense_Mutation_p.R1164C	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1273					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGAACACCTCGTTTCTCATC	0.493000			"""F, N, Mis"""		"""MDS, CMML"""									41			48		0	0	0.000781405	0	0
ZNF287	57336	broad.mit.edu	37	17	16456253	16456253	+	Silent	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:16456253A>G	uc021trd.1	-	5	1821	c.1203T>C	c.(1201-1203)tgT>tgC	p.C401C	ZNF287_uc002gqi.2_Silent_p.C401C	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	394					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACTCTTTCCCACATTCTTCAC	0.418000														93			26		0	0	0.00178596	0	0
DQX1	165545	broad.mit.edu	37	2	74746338	74746338	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:74746338C>T	uc010yrw.2	-	10	1991	c.1826G>A	c.(1825-1827)gGg>gAg	p.G609E	DQX1_uc002smc.3_Missense_Mutation_p.G170E	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	609						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ATTTCCAGTCCCGTCTGTGTC	0.488000														26			8		0	0	0.000274275	0	0
CRLF1	9244	broad.mit.edu	37	19	18710594	18710594	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:18710594A>G	uc010ebt.2	-	1	372	c.178T>C	c.(178-180)Tgc>Cgc	p.C60R		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	60	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGCACTGAGCAGGTGGCCAGC	0.667000														9			4		0	0	0.00024832	0	0
XKR3	150165	broad.mit.edu	37	22	17280873	17280873	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:17280873T>C	uc002zlv.3	-	2	475	c.377A>G	c.(376-378)aAt>aGt	p.N126S	XKR3_uc011agf.2_Missense_Mutation_p.N126S	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	126						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGTTTAAGATTTTTCAACCA	0.368000														53			38		0	0	0.000814825	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690531	27690531	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:27690531C>T	uc001bny.1	-	4	990	c.741G>A	c.(739-741)cgG>cgA	p.R247R	MAP3K6_uc009vsw.1_Silent_p.R239R|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	247					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAACCGCTCCCGCGCCTGCC	0.652000														15			16		0	0	0.000422831	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72205735	72205735	+	Splice_Site	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:72205735G>A	uc001xms.3	+	22	5633	c.5272_splice	c.e22-1	p.E1758_splice	SIPA1L1_uc001xmt.3_Splice_Site_p.E1737_splice|SIPA1L1_uc001xmu.3_Splice_Site_p.E1736_splice|SIPA1L1_uc001xmv.3_Splice_Site_p.E1757_splice|SIPA1L1_uc010ttm.2_Splice_Site_p.E1211_splice|DKFZp686G1344_uc021rvu.1_5'Flank	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1758					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGCCTCCCAGGAAAAAGAAGA	0.527000														19			11		0	0	0.000978159	0	0
ZNF208	7757	broad.mit.edu	37	19	22156988	22156988	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:22156988T>G	uc021urr.1	-	3	997	c.848A>C	c.(847-849)aAa>aCa	p.K283T	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTGTTGGGTTTCTCTCCAGT	0.378000														16			12		0	0	0.000978159	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389342	117389342	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:117389342C>T	uc001prh.1	-	6	1531	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	DSCAML1_uc001pri.1_Missense_Mutation_p.R314Q	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	450	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.V509M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGCCATCCCGCACGATGGG	0.672000														21			9		0	0	0.000274275	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520498	33520498	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:33520498C>T	uc002hjd.2	-	0	915	c.829G>A	c.(829-831)Gcc>Acc	p.A277T		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	277	DUF6 2.					integral to membrane											GCAGGGTGGGCCTTGGTGACC	0.577000														104			32		0	0	0.00283554	0	0
JPH3	57338	broad.mit.edu	37	16	87678092	87678092	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:87678092C>T	uc002fkd.3	+	1	865	c.611C>T	c.(610-612)tCc>tTc	p.S204F	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	204					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CACAGTGACTCCGAGATCCTC	0.682000														27			25		0	0	0.00106085	0	0
RFX6	222546	broad.mit.edu	37	6	117246782	117246782	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:117246782C>T	uc003pxm.3	+	15	1908	c.1845C>T	c.(1843-1845)caC>caT	p.H615H		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	615					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGCTCTGCACCAGTTCCCTG	0.542000														5			16		0	0	0.000422831	0	0
GRM8	2918	broad.mit.edu	37	7	126544086	126544086	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:126544086G>A	uc003vlr.2	-	3	1269	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Nonsense_Mutation_p.Q320*|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Nonsense_Mutation_p.Q41*	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	320					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCCTCTTGCTGATAGACAGGT	0.423000										HNSCC(24;0.065)				69			33		0	0	0.000781405	0	0
APOBR	55911	broad.mit.edu	37	16	28509265	28509265	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:28509265C>T	uc002dqb.2	+	1	2936	c.2903C>T	c.(2902-2904)aCg>aTg	p.T968M	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.T497M	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	959					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAAGCCGAGACGGCTGAGGCC	0.652000														24			7		0	0	0.00198382	0	0
TIAM2	26230	broad.mit.edu	37	6	155469324	155469324	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:155469324G>A	uc003qqb.3	+	8	3157	c.1884G>A	c.(1882-1884)ggG>ggA	p.G628G	TIAM2_uc003qqe.3_Silent_p.G628G|TIAM2_uc010kjj.3_Silent_p.G161G|TIAM2_uc003qqf.3_5'UTR|TIAM2_uc011efl.1_5'Flank|TIAM2_uc003qqg.3_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	628					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.G628E(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAAGCATGGGAAAGAGGACA	0.507000														20			56		0	0	0.000781405	0	0
LAG3	3902	broad.mit.edu	37	12	6887035	6887035	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:6887035C>T	uc001qqt.4	+	6	1728	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	LAG3_uc001qqu.3_Missense_Mutation_p.S290F	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	460						integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGTCCTTTCTCTGCTCCTT	0.592000														89			27		0	0	0.001512	0	0
ZHX2	22882	broad.mit.edu	37	8	123964338	123964338	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:123964338C>T	uc022bag.1	+	0	588	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZHX2_uc003ypk.1_Silent_p.A196A	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	196	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGCGGATGCCAAGAAGGTGC	0.577000														143			25		0	0	0.000720815	0	0
IRX5	10265	broad.mit.edu	37	16	54967445	54967445	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:54967445T>C	uc002ehv.3	+	2	1112	c.1112T>C	c.(1111-1113)cTa>cCa	p.L371P	IRX5_uc021tin.1_Missense_Mutation_p.L370P|IRX5_uc002ehw.3_Missense_Mutation_p.L305P	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	371					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGGCAAGCCCTAGGAGGCAGC	0.716000														16			6		0	0	0.00198382	0	0
FRMD6	122786	broad.mit.edu	37	14	52179241	52179242	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:52179241_52179242GG>AA	uc001wzd.3	+	8	1106_1107	c.821_822GG>AA	c.(820-822)tgg>tAA	p.W274*	FRMD6_uc001wzb.3_Nonsense_Mutation_p.W266*|FRMD6_uc001wzc.3_Nonsense_Mutation_p.W266*|FRMD6_uc001wze.3_Nonsense_Mutation_p.W197*|FRMD6_uc001wzf.3_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	274	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GATTTCCCCTGGACAAATGTTG	0.292000														25			7		0	0	6.4e-05	0	0
LRRC18	474354	broad.mit.edu	37	10	50121774	50121774	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:50121774G>A	uc001jhd.3	-	0	507	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.L143L	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	143						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGCTCCTTCAGGGCCCCCAGT	0.577000														9			9		0	0	0.000442599	0	0
SPAM1	6677	broad.mit.edu	37	7	123593820	123593820	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:123593820G>A	uc003vle.3	+	2	635	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.E66K|SPAM1_uc022aks.1_Missense_Mutation_p.E66K|SPAM1_uc003vlf.4_Missense_Mutation_p.E66K|SPAM1_uc010lku.3_Missense_Mutation_p.E66K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	66					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AAAATTTGATGAGCCACTAGA	0.438000														34			18		0	0	0.00074312	0	0
MIB1	57534	broad.mit.edu	37	18	19424141	19424141	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:19424141C>T	uc002ktq.3	+	14	2138	c.2138C>T	c.(2137-2139)tCt>tTt	p.S713F	MIB1_uc002ktp.3_Missense_Mutation_p.S352F	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	713					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CACACTTTGTCTCAGCTACGT	0.463000														57			45		0	0	0.000781405	0	0
GMIP	51291	broad.mit.edu	37	19	19747524	19747524	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:19747524G>A	uc002nnd.3	-	12	1436	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	GMIP_uc010xrb.2_Missense_Mutation_p.S440F|GMIP_uc010xrc.2_Missense_Mutation_p.S437F	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	440					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACCTGGGCTGGAAGTGGGTGA	0.612000														32			21		0	0	0.00047179	0	0
IGLL1	3543	broad.mit.edu	37	22	23915751	23915751	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:23915751G>A	uc002zxd.3	-	2	462	c.344C>T	c.(343-345)tCg>tTg	p.S115L	IGLL1_uc002zxe.3_Silent_p.L76L	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	115	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CAGAGTGACCGAGGGGGTGGC	0.577000														29			25		0	0	0.000720815	0	0
GIGYF2	26058	broad.mit.edu	37	2	233613726	233613726	+	Silent	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:233613726T>C	uc002vtj.4	+	5	468	c.201T>C	c.(199-201)ttT>ttC	p.F67F	GIGYF2_uc010zmj.1_Silent_p.F67F|GIGYF2_uc002vtg.2_Silent_p.F67F|GIGYF2_uc002vti.4_Silent_p.F67F|GIGYF2_uc002vtk.4_Silent_p.F67F|GIGYF2_uc002vth.4_Silent_p.F67F|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	67					cell death		protein binding	p.E66*(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATAAAGAATTTCTGCCTATCC	0.408000														121			142		0	0	0.000781405	0	0
ZNF527	84503	broad.mit.edu	37	19	37871224	37871224	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:37871224G>A	uc010efk.1	+	3	317	c.206G>A	c.(205-207)gGg>gAg	p.G69E	ZNF527_uc002ogf.3_Intron|ZNF527_uc010xtq.1_Non-coding_Transcript|ZNF527_uc002oge.3_Missense_Mutation_p.G69E	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGAGCAAGGGAAGGAACCG	0.483000														44			12		0	0	0.00185496	0	0
FRG2B	441581	broad.mit.edu	37	10	135440205	135440205	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:135440205G>A	uc010qvg.2	-	0	95	c.42C>T	c.(40-42)tcC>tcT	p.S14S		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	14						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGCACTGGATGGAGGAGCAGT	0.507000														191			26		0	0	0.00128727	0	0
SNX25	83891	broad.mit.edu	37	4	186244723	186244723	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:186244723C>T	uc003ixh.3	+	8	1215	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	SNX25_uc010ish.3_Silent_p.F113F|SNX25_uc003ixi.3_5'UTR	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	342	RGS.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ATCAGAATTTCTTTGTGGAGA	0.303000														57			40		0	0	0.00170553	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752150	62752150	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:62752150C>T	uc001nwk.3	-	0	346	c.13G>A	c.(13-15)Gac>Aac	p.D5N	SLC22A6_uc001nwl.3_Missense_Mutation_p.D5N|SLC22A6_uc001nwj.3_Missense_Mutation_p.D5N|SLC22A6_uc001nwm.3_Missense_Mutation_p.D5N	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	5					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCAGGAGGTCATTAAAGGCC	0.647000														6			15		0	0	0.000566183	0	0
ALPI	248	broad.mit.edu	37	2	233323081	233323081	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:233323081C>T	uc002vst.4	+	8	1223	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	ALPI_uc002vsu.4_Silent_p.S293S	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	382					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.S382S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGTCTTCTCCTTTGGTGGCT	0.597000														9			11		0	0	0.000978159	0	0
MET	4233	broad.mit.edu	37	7	116339776	116339776	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:116339776C>T	uc003vij.3	+	1	825	c.638C>T	c.(637-639)tCg>tTg	p.S213L	MET_uc022akk.1_Missense_Mutation_p.S213L|MET_uc010lkh.3_Missense_Mutation_p.S213L|MET_uc011knc.1_Missense_Mutation_p.S213L|MET_uc011knd.2_Missense_Mutation_p.S213L|MET_uc011knf.2_Missense_Mutation_p.S213L|MET_uc011kne.2_Missense_Mutation_p.S213L|MET_uc011kng.1_Missense_Mutation_p.S213L|MET_uc011knh.1_Missense_Mutation_p.S213L|MET_uc011kni.2_Missense_Mutation_p.S213L|MET_uc003vii.1_Missense_Mutation_p.S232L|MET_uc010lkg.3_Missense_Mutation_p.S213L|MET_uc011kmz.1_Missense_Mutation_p.S213L|MET_uc011kna.1_Missense_Mutation_p.S213L|MET_uc011knb.1_Missense_Mutation_p.S213L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	213	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.S213L(2)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCATTGCATTCGATATCAGTG	0.403000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					112			64		0	0	0.000781405	0	0
ZNF479	90827	broad.mit.edu	37	7	57187836	57187836	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:57187836C>T	uc010kzo.3	-	4	1557	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTC	0.433000														61			6		0	0	0.000673444	0	0
SYNE1	23345	broad.mit.edu	37	6	152621837	152621837	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:152621837G>A	uc021zhb.1	-	90	17844	c.17621C>T	c.(17620-17622)tCc>tTc	p.S5874F	SYNE1_uc003qos.4_Missense_Mutation_p.S398F|SYNE1_uc003qot.4_Missense_Mutation_p.S5803F|SYNE1_uc003qou.4_Missense_Mutation_p.S5874F|SYNE1_uc010kiy.1_Intron	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5874					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTGGAGAGGAAATCTCACT	0.532000										HNSCC(10;0.0054)				7			32		0	0	0.0024448	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957711	52957711	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:52957711C>T	uc001wzs.3	-	9	1218	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	TXNDC16_uc010tqu.2_Missense_Mutation_p.E252K|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	257					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGAGGATCTTCAGCAACTTCA	0.333000														12			9		0	0	0.000978159	0	0
TRPC3	7222	broad.mit.edu	37	4	122846271	122846271	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:122846271G>A	uc003ieg.2	-	2	1152	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	TRPC3_uc010inr.2_Silent_p.L287L|TRPC3_uc003ief.2_Silent_p.L287L|TRPC3_uc011cgl.1_Silent_p.L24L	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	275					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCTCCATTCAGAATGGCTTCT	0.448000														76			61		0	0	0.000781405	0	0
EXOC3	11336	broad.mit.edu	37	5	462278	462278	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:462278C>T	uc003jba.3	+	8	1637	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	514					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCAGGGAATCCATAGTCAGTT	0.562000														16			22		0	0	0.00188189	0	0
MS4A1	931	broad.mit.edu	37	11	60230551	60230551	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:60230551C>T	uc009yna.3	+	2	563	c.236C>T	c.(235-237)cCc>cTc	p.P79L	MS4A1_uc009ymy.1_Missense_Mutation_p.P79L|MS4A1_uc009ymz.3_Missense_Mutation_p.P79L|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.P79L|MS4A1_uc001npq.3_Missense_Mutation_p.P79L	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	79	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATCTATGCACCCATCTGTGTG	0.507000														21			54		0	0	0.000781405	0	0
KCNH2	3757	broad.mit.edu	37	7	150648062	150648062	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:150648062C>T	uc003wic.3	-	7	2493	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	KCNH2_uc003wib.3_Missense_Mutation_p.E358K|KCNH2_uc011kux.2_Missense_Mutation_p.E602K|KCNH2_uc003wid.3_Missense_Mutation_p.E358K|KCNH2_uc003wie.3_Missense_Mutation_p.E698K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	698					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGTACTCCTCGAGGCGCTGG	0.652000														34			20		0	0	0.00278032	0	0
ZNF318	24149	broad.mit.edu	37	6	43322813	43322813	+	Silent	SNP	T	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:43322813T>A	uc003oux.3	-	3	2337	c.2259A>T	c.(2257-2259)ccA>ccT	p.P753P	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	753					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CAGCAGTGTGTGGAAGTCTAA	0.532000														113			41		0	0	0.00222228	0	0
NPHP4	261734	broad.mit.edu	37	1	5937187	5937187	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:5937187C>T	uc001alq.2	-	19	3051	c.2783G>A	c.(2782-2784)gGg>gAg	p.G928E	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	928					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTCTCCCCCGGCCTCCTG	0.662000														13			3		0	0	0.000602214	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669831	131669831	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:131669831C>T	uc004bwl.4	+	2	642	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	LRRC8A_uc010myp.3_Missense_Mutation_p.L130F|LRRC8A_uc010myq.3_Missense_Mutation_p.L130F	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	130					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTACCTGGTGCTTCTGCACAC	0.542000														43			16		0	0	0.000566183	0	0
KLF3	51274	broad.mit.edu	37	4	38690514	38690514	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:38690514C>T	uc003gth.4	+	2	698	c.366C>T	c.(364-366)tcC>tcT	p.S122S	KLF3_uc003gtg.2_Silent_p.S122S	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	122	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGCCGCTGTCCATGCCACCAG	0.637000														29			33		0	0	0.0024448	0	0
MTMR7	9108	broad.mit.edu	37	8	17206511	17206511	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:17206511C>T	uc003wxm.3	-	4	787	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	MTMR7_uc003wxn.3_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	183	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCGTCTACTCCGGAATTTGGA	0.423000														97			79		0	0	0.000781405	0	0
RPN2	6185	broad.mit.edu	37	20	35833295	35833295	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:35833295C>T	uc002xgp.3	+	5	985	c.681C>T	c.(679-681)tcC>tcT	p.S227S	RPN2_uc010gfw.2_Silent_p.S70S|RPN2_uc002xgq.3_Silent_p.S195S|RPN2_uc021wdb.1_Silent_p.S9S	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	227					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGCCATCCATTAAGGAGG	0.468000														84			44		0	0	0.000781405	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267914	1267915	+	Missense_Mutation	DNP	CC	TT	TT	rs141843729		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:1267914_1267915CC>TT	uc010nyk.2	+	2	1003_1004	c.1003_1004CC>TT	c.(1003-1005)ccc>TTc	p.P335F		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	335					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCACGAGTTCCCCCAGTACGTG	0.693000														13			11		0	0	6.4e-05	0	0
HMGB4	127540	broad.mit.edu	37	1	34330176	34330176	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:34330176G>A	uc021oky.1	+	0	384	c.384G>A	c.(382-384)ggG>ggA	p.G128G	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Silent_p.G128G|HMGB4_uc001bxq.3_Silent_p.G54G	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	128						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGCCACAGGGAAGATGTGGT	0.542000														43			10		0	0	0.000673444	0	0
FAM49A	81553	broad.mit.edu	37	2	16743311	16743311	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:16743311C>T	uc010exm.2	-	4	545	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	FAM49A_uc002rck.2_Missense_Mutation_p.E133K	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	133						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGTAAAATTTCGGCAAACTCC	0.423000														27			19		0	0	0.00074312	0	0
APLP1	333	broad.mit.edu	37	19	36369819	36369819	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:36369819C>T	uc002oce.3	+	14	1813	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S	APLP1_uc010xsz.2_Missense_Mutation_p.P520S|APLP1_uc002ocf.3_Missense_Mutation_p.P560S|APLP1_uc002ocg.3_Missense_Mutation_p.P463S|APLP1_uc010xta.2_Missense_Mutation_p.P553S	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	559					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGGGGTTTCCCTTTCCACTC	0.587000														38			39		0	0	0.00195071	0	0
PXDN	7837	broad.mit.edu	37	2	1642681	1642682	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:1642681_1642682CC>TT	uc002qxa.3	-	20	4206_4207	c.4142_4143GG>AA	c.(4141-4143)ggg>gAA	p.G1381E		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1381					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGTCATTTGTCCCAGATGCATC	0.550000														32			16		0	0	6.4e-05	0	0
EXO1	9156	broad.mit.edu	37	1	242042408	242042408	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:242042408C>T	uc021plj.1	+	10	2186	c.1872C>T	c.(1870-1872)ccC>ccT	p.P624P	EXO1_uc001hzh.3_Silent_p.P624P|EXO1_uc009xgq.3_Silent_p.P623P|EXO1_uc021plk.1_Silent_p.P624P	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	624	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CGCCGAGCCCCTCTCCAAGCA	0.473000								Editing and processing nucleases						11			99		0	0	0.000781405	0	0
LTN1	26046	broad.mit.edu	37	21	30332977	30332977	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:30332977C>T	uc002ymr.2	-	11	2366	c.2353G>A	c.(2353-2355)Gat>Aat	p.D785N		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	739							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCAAGGATATCGCCTTTGAGC	0.383000														15			7		0	0	0.000442599	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399955	87399955	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:87399955G>A	uc003ujb.3	+	7	1150	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	RUNDC3B_uc011khd.1_Missense_Mutation_p.E230K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E230K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E230K|RUNDC3B_uc003ujd.3_Missense_Mutation_p.E152K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	247								p.E247K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CAGTGGTAGCGAAAGCAGTAC	0.398000														15			25		0	0	0.00278032	0	0
C4orf22	255119	broad.mit.edu	37	4	81866034	81866034	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:81866034C>T	uc010ijp.3	+	5	647	c.598C>T	c.(598-600)Cca>Tca	p.P200S	C4orf22_uc003hmf.3_Missense_Mutation_p.P183S	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	183										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TGCCGATAATCCAGAAGGCTT	0.328000														52			37		0	0	0.000814825	0	0
WRAP53	55135	broad.mit.edu	37	17	7606160	7606160	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7606160G>A	uc010vuh.2	+	8	1419	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	WRAP53_uc010vui.2_Missense_Mutation_p.D422N|WRAP53_uc002gip.3_Missense_Mutation_p.D422N|WRAP53_uc002gir.3_Missense_Mutation_p.D422N|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.D389N|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	422					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CTTCGATCTGGACCCGTGAGT	0.602000														24			10		0	0	0.000442599	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120503	120504	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrGL000209.1:120503_120504GG>AA	uc010yie.2	+	3	466_467	c.455_456GG>AA	c.(454-456)cgg>cAA	p.R152Q	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.R149Q|KIR2DL2_uc002qum.3_Missense_Mutation_p.R152Q	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	152	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TGCAGCTCCCGGAGCTCCTATG	0.569000														62			66		0	0	6.4e-05	0	0
HK3	3101	broad.mit.edu	37	5	176311076	176311076	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:176311076G>A	uc003mfa.3	-	13	2009	c.1917C>T	c.(1915-1917)gtC>gtT	p.V639V	HK3_uc003mez.3_Silent_p.V195V	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	639	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGACTCACGACATCTTGGC	0.602000														37			74		0	0	0.000781405	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512912	70512912	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:70512912G>A	uc011caq.2	-	1	567	c.451C>T	c.(451-453)Cca>Tca	p.P151S	UGT2A1_uc010ihu.3_Missense_Mutation_p.P151S|UGT2A1_uc003hem.4_Missense_Mutation_p.P151S|UGT2A1_uc010iht.3_Missense_Mutation_p.P151S	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	151					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGAAATACTGGATCAGACACC	0.428000														42			18		0	0	0.000566183	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375998	113375998	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:113375998G>A	uc003eam.3	-	6	4942	c.4531C>T	c.(4531-4533)Caa>Taa	p.Q1511*	KIAA2018_uc003eal.3_Nonsense_Mutation_p.Q1455*	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1511	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTCCTCTGTTGGTGGACATTA	0.483000														13			64		0	0	0.000781405	0	0
HELZ	9931	broad.mit.edu	37	17	65124822	65124822	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:65124822G>A	uc010wqk.2	-	23	3522	c.3335C>T	c.(3334-3336)gCt>gTt	p.A1112V	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A1111V	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAGTCTTAGAGCCCGGGGGAT	0.433000														210			45		0	0	0.000781405	0	0
ACD	65057	broad.mit.edu	37	16	67694201	67694201	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:67694201G>A	uc002etq.4	-	0	518	c.181C>T	c.(181-183)Cct>Tct	p.P61S	ACD_uc002etp.4_Missense_Mutation_p.P61S|ACD_uc002etr.4_Missense_Mutation_p.P61S|ACD_uc010vjt.1_Missense_Mutation_p.P51S|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	61					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.P61S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCGGAAGAGGAAGCTCCTTC	0.736000														15			7		0	0	0.000274275	0	0
BNC1	646	broad.mit.edu	37	15	83932427	83932427	+	Missense_Mutation	SNP	C	T	T	rs149687703		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:83932427C>T	uc002bjt.1	-	3	1664	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	BNC1_uc010uos.1_Missense_Mutation_p.E514K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	526					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AATGGCATTTCGTTTGAAATG	0.488000														28			40		0	0	0.00148497	0	0
OR4M1	441670	broad.mit.edu	37	14	20248994	20248994	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:20248994C>T	uc010tku.2	+	0	513	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P171P(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGGGCCCAATGAGTTAG	0.498000														124			32		0	0	0.00128727	0	0
RGMA	56963	broad.mit.edu	37	15	93595475	93595475	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:93595475C>T	uc010urc.2	-	2	648	c.417G>A	c.(415-417)ccG>ccA	p.P139P	RGMA_uc002bsq.2_Silent_p.P115P|RGMA_uc021svs.1_Silent_p.P115P|RGMA_uc021svt.1_Silent_p.P115P|RGMA_uc010boi.2_Silent_p.P22P|RGMA_uc002bsr.2_Silent_p.P22P|RGMA_uc021svu.1_Silent_p.P115P|RGMA_uc002bss.2_Silent_p.P131P	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	131					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTCTCCGGCCGGTGGGAGCG	0.647000														31			29		0	0	0.000692331	0	0
LINC00477	144360	broad.mit.edu	37	12	24736653	24736653	+	RNA	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:24736653G>A	uc001rgb.1	-	0		c.450C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		GCTCAGTGGGGAAGGAGGGTG	0.562000														37			38		0	0	0.00222228	0	0
HOXC5	3222	broad.mit.edu	37	12	54427019	54427019	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:54427019A>T	uc001sew.3	+	0	188	c.113A>T	c.(112-114)tAc>tTc	p.Y38F	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	38					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GCATCCAGGTACTGCTACGGC	0.557000														30			30		0	0	0.00209593	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568259	7568259	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:7568259C>T	uc002cys.2	+	4	1126	c.138C>T	c.(136-138)ccC>ccT	p.P46P	RBFOX1_uc010buf.1_Silent_p.P46P|RBFOX1_uc002cyr.1_Silent_p.P46P|RBFOX1_uc002cyt.2_Silent_p.P46P|RBFOX1_uc010uxz.1_Silent_p.P89P|RBFOX1_uc010uya.1_Silent_p.P82P|RBFOX1_uc002cyv.1_Silent_p.P46P|RBFOX1_uc010uyb.1_Silent_p.P46P|RBFOX1_uc002cyw.2_Silent_p.P66P|RBFOX1_uc002cyy.2_Silent_p.P66P|RBFOX1_uc002cyx.2_Silent_p.P66P|RBFOX1_uc010uyc.1_Silent_p.P66P	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	46					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCTCATCCCCACCCCGCGC	0.652000														72			25		0	0	0.00127121	0	0
OR52E2	119678	broad.mit.edu	37	11	5080256	5080256	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:5080256C>T	uc010qyw.2	-	0	602	c.602G>A	c.(601-603)gGt>gAt	p.G201D		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCACATAAACCATAAATAAT	0.408000														7			26		0	0	0.000586117	0	0
NFASC	23114	broad.mit.edu	37	1	204944475	204944475	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:204944475G>A	uc010prc.2	+	13	1865	c.336G>A	c.(334-336)gtG>gtA	p.V112V	NFASC_uc001hbh.3_Silent_p.V545V|NFASC_uc010pqz.2_Silent_p.V539V|NFASC_uc001hbj.3_Silent_p.V545V|NFASC_uc010pra.2_Silent_p.V556V|NFASC_uc001hbi.3_Silent_p.V556V|NFASC_uc010prb.2_Silent_p.V556V|NFASC_uc001hbk.1_Silent_p.V366V			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	545	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTGTCGGGTGAAGCACGACC	0.607000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			151		0	0	0.000781405	0	0
OR6X1	390260	broad.mit.edu	37	11	123624842	123624842	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:123624842G>A	uc010rzy.2	-	0	385	c.385C>T	c.(385-387)Cac>Tac	p.H129Y		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTGGGGTGGTGAAGGGGATTG	0.552000														8			28		0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179584835	179584835	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179584835G>A	uc021vsy.1	-	77	20027	c.19802C>T	c.(19801-19803)tCa>tTa	p.S6601L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3262L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7528	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V6601A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAATGAATGAAATCCTGGT	0.428000														24			21		0	0	0.00188189	0	0
SACS	26278	broad.mit.edu	37	13	23939335	23939335	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:23939335G>A	uc001uon.2	-	5	1016	c.427C>T	c.(427-429)Ctt>Ttt	p.L143F	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	143					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGACCAAAGAGTCTCTGTT	0.328000														48			35		0	0	0.000953801	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:108690227G>A	uc003dxl.3	-	24	2587	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_uc011bhn.2_Missense_Mutation_p.P813S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATGCTCAGGAAAAAAATAC	0.403000														11			57		0	0	0.000781405	0	0
ITPKA	3706	broad.mit.edu	37	15	41795237	41795237	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:41795237C>T	uc001znz.3	+	6	1329	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I		NM_002220	NP_002211	P23677	IP3KA_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase A (ITPKA), mRNA.	420					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TTCGGCAAGACCACGCCCCTC	0.672000														23			5		0	0	0.000602214	0	0
OTOA	146183	broad.mit.edu	37	16	21771827	21771827	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:21771827C>T	uc002djh.3	+	27	3387	c.3386C>T	c.(3385-3387)cCc>cTc	p.P1129L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.P1050L|OTOA_uc002dji.3_Missense_Mutation_p.P805L|OTOA_uc010vbk.2_Missense_Mutation_p.P777L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	1143					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTTGGTTGTCCCCTGCTGGTT	0.517000														76			12		0	0	0.00188189	0	0
MAT2B	27430	broad.mit.edu	37	5	162939023	162939023	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:162939023C>T	uc003lzk.3	+	1	187	c.79C>T	c.(79-81)Cct>Tct	p.P27S	MAT2B_uc003lzj.3_Missense_Mutation_p.P16S|MAT2B_uc003lzl.1_Missense_Mutation_p.P27S	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	27					S-adenosylmethionine biosynthetic process|extracellular polysaccharide biosynthetic process|methylation|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGTTAACATCCCTAATAGGAG	0.423000														30			61		0	0	0.000781405	0	0
TLE3	7090	broad.mit.edu	37	15	70358439	70358439	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:70358439G>A	uc002asl.2	-	5	807	c.506C>T	c.(505-507)tCc>tTc	p.S169F	TLE3_uc002ask.2_Missense_Mutation_p.S108F|TLE3_uc010ukd.1_Missense_Mutation_p.S157F|TLE3_uc010bil.1_Missense_Mutation_p.S164F|TLE3_uc002asn.2_Missense_Mutation_p.S164F|TLE3_uc002asm.2_Missense_Mutation_p.S164F|TLE3_uc002asp.2_Missense_Mutation_p.S164F|TLE3_uc002aso.2_Missense_Mutation_p.S164F|TLE3_uc010bim.1_Non-coding_Transcript	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	164	Gly/Pro-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGCAGCCCGGAGCTGCTCCC	0.667000														19			34		0	0	0.00148497	0	0
DEAF1	10522	broad.mit.edu	37	11	674772	674772	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:674772G>A	uc001lqq.1	-	9	1960	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Silent_p.L334L	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	423	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGCGCAGGCAGGGATGTCAAC	0.557000														18			61		0	0	0.000781405	0	0
OR2M2	391194	broad.mit.edu	37	1	248344023	248344023	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:248344023A>T	uc010pzf.2	+	0	736	c.736A>T	c.(736-738)Atg>Ttg	p.M246L		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTCACCTCATGGTGGTGGG	0.483000														299			13		0	0	0.00188189	0	0
USP6	9098	broad.mit.edu	37	17	5045413	5045413	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:5045413G>A	uc002gau.1	+	23	3919	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	USP6_uc002gav.1_Silent_p.G563G|USP6_uc010ckz.1_Silent_p.G246G	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	563					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTATCTCAGGGAGACATCTTT	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									64			30		0	0	0.0024448	0	0
MKS1	54903	broad.mit.edu	37	17	56293562	56293562	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:56293562G>A	uc002ivr.2	-	3	379	c.304C>T	c.(304-306)Cct>Tct	p.P102S	MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Missense_Mutation_p.P92S	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	102					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAATCCAAAGGACTCTGACAG	0.403000														40			72		0	0	0.000781405	0	0
EHD3	30845	broad.mit.edu	37	2	31483590	31483590	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:31483590C>T	uc002rnu.3	+	3	1325	c.717C>T	c.(715-717)tcC>tcT	p.S239S	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	239					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCATGTGGTCCTTGGGGAAGA	0.592000														28			8		0	0	0.000157383	0	0
NLK	51701	broad.mit.edu	37	17	26488234	26488234	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:26488234C>T	uc010crj.3	+	3	905	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	231	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAATTATCGTCTCTCCTCAAC	0.393000														28			28		0	0	0.00178596	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594002	61594002	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:61594002C>T	uc002yea.4	+	4	708	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SLC17A9_uc002ydz.4_Missense_Mutation_p.S169F|SLC17A9_uc011aap.1_Missense_Mutation_p.S195F	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	175					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCGGTGGGCTCCCTGCTCCTG	0.637000														88			25		0	0	0.000720815	0	0
SCMH1	22955	broad.mit.edu	37	1	41579008	41579008	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:41579008G>A	uc001cgo.3	-	7	1031	c.662C>T	c.(661-663)cCt>cTt	p.P221L	SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Missense_Mutation_p.P160L|SCMH1_uc001cgr.3_Missense_Mutation_p.P160L|SCMH1_uc001cgq.3_Missense_Mutation_p.P174L|SCMH1_uc001cgs.3_Missense_Mutation_p.P231L|SCMH1_uc001cgt.3_Missense_Mutation_p.P160L|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	221					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCAGCCCACAGGGAAGATGTC	0.557000														38			60		0	0	0.000781405	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826826	92826826	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:92826826G>A	uc011khy.2	-	5	1202	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	HEPACAM2_uc003uml.3_Silent_p.F358F|HEPACAM2_uc010lff.3_Silent_p.F358F|HEPACAM2_uc003umm.3_Silent_p.F370F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	370						integral to membrane		p.A393D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTTTCCATAGGAAGAGAAGAC	0.303000														61			31		0	0	0.00209593	0	0
ABCC9	10060	broad.mit.edu	37	12	21967600	21967600	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:21967600G>A	uc001rfh.3	-	32	4100	c.4080C>T	c.(4078-4080)ttC>ttT	p.F1360F	ABCC9_uc001rfi.1_Silent_p.F1360F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1360	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAACCATTCTGAAGAAAGCCA	0.403000														31			8		0	0	0.000274275	0	0
ABCC6	368	broad.mit.edu	37	16	16276311	16276311	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:16276311C>T	uc002den.4	-	16	2242	c.2205G>A	c.(2203-2205)gtG>gtA	p.V735V	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	735	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGAAGCTGTCCACATCTGGCT	0.557000														19			26		0	0	0.001512	0	0
GDAP2	54834	broad.mit.edu	37	1	118420659	118420659	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:118420659G>A	uc001ehf.3	-	12	1717	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L	GDAP2_uc001ehg.3_Missense_Mutation_p.P473L	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	473	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GACAAAAGGAGGAAAGTCAAT	0.448000														24			20		0	0	0.00278032	0	0
TEX15	56154	broad.mit.edu	37	8	30704952	30704952	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:30704952C>T	uc003xil.3	-	0	1582	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	528										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)		CTCAAAATTTCTATATTGTGG	0.318000														57			35		0	0	0.000814825	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978516	6978516	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:6978516C>T	uc002gek.3	-	8	1111	c.808G>A	c.(808-810)Gac>Aac	p.D270N	CLEC10A_uc002gej.3_Missense_Mutation_p.D246N|CLEC10A_uc010clv.2_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	270	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCCTGCCAGTCGTCTGGCTGG	0.597000														25			18		0	0	0.00121646	0	0
CRTC2	200186	broad.mit.edu	37	1	153920746	153920746	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:153920746A>C	uc021pab.1	-	13	2080	c.1921T>G	c.(1921-1923)Ttt>Gtt	p.F641V	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.F177V	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	641					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACACCTCAAAGCCAGGCACT	0.582000														98			27		0	0	0.00178596	0	0
ZNF229	7772	broad.mit.edu	37	19	44934538	44934538	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:44934538G>A	uc002oze.1	-	5	852	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.H134Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CACCCTTGATGGGGAGCAGCA	0.478000														72			27		0	0	0.001512	0	0
FAM192A	80011	broad.mit.edu	37	16	57188231	57188232	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:57188231_57188232GG>AA	uc021tiy.1	-	6	994_995	c.735_736CC>TT	c.(733-738)ttccga>ttTTga	p.R246*	FAM192A_uc021tix.1_Non-coding_Transcript	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA.	246						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						GTGTTGGTTCGGAAGATGGAGG	0.584000														35			12		0	0	6.4e-05	0	0
MPP7	143098	broad.mit.edu	37	10	28409268	28409268	+	Missense_Mutation	SNP	G	A	A	rs34411482		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:28409268G>A	uc001iua.1	-	11	1146	c.742C>T	c.(742-744)Cca>Tca	p.P248S	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.P248S|MPP7_uc009xla.2_Missense_Mutation_p.P248S|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	248	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCTTACATGGAATTGCCTTA	0.363000														56			43		0	0	0.000781405	0	0
MST1P2	11209	broad.mit.edu	37	1	16975082	16975082	+	RNA	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:16975082A>G	uc010och.2	+	6		c.1542A>G			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCAGACCCAGATGGGGATAGC	0.612000														70			6		0	0	0.000673444	0	0
F3	2152	broad.mit.edu	37	1	94997936	94997936	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:94997936T>G	uc001dqr.3	-	4	913	c.692A>C	c.(691-693)aAc>aCc	p.N231T	F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Intron|F3_uc001dqs.3_Intron	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	231					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	ACTCTTCCGGTTAACTGTTCG	0.478000														53			18		0	0	0.00121646	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946384	16946384	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:16946384C>T	uc010ocf.2	-	2		c.514G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TCGTCATGCTCCTGCTGCAGG	0.652000														18			5		0	0	0.00198382	0	0
DZANK1	55184	broad.mit.edu	37	20	18365132	18365133	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:18365132_18365133GG>AA	uc010zsa.2	-	20	2435_2436	c.2226_2227CC>TT	c.(2224-2229)gacctt>gaTTtt	p.L743F	DZANK1_uc010zrz.2_Missense_Mutation_p.L262F|DZANK1_uc002wqp.4_Missense_Mutation_p.L434F|DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Missense_Mutation_p.L610F|DZANK1_uc002wqq.4_Missense_Mutation_p.L724F	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA.	551						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GAGGTGACAAGGTCATCTCCAG	0.525000														14			12		0	0	6.4e-05	0	0
P2RY4	5030	broad.mit.edu	37	X	69479145	69479145	+	Silent	SNP	G	A	A	rs146718292	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:69479145G>A	uc004dxz.1	-	0	510	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	110					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GAAAGCGGACGAACTTGCAGA	0.542000														5			18		0	0	0.000958276	0	0
METTL18	92342	broad.mit.edu	37	1	169762117	169762117	+	Silent	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:169762117T>C	uc001ggn.3	-	1	998	c.720A>G	c.(718-720)gaA>gaG	p.E240E	C1orf112_uc001ggj.3_Intron|METTL18_uc021pen.1_Silent_p.E240E|C1orf112_uc001ggo.3_5'Flank|C1orf112_uc010plt.1_5'Flank|C1orf112_uc001ggp.3_5'Flank|C1orf112_uc001ggq.3_5'Flank|C1orf112_uc009wvt.3_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	Homo sapiens methyltransferase like 18 (METTL18), mRNA.	240						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						CATCATTTTCTTCATCTTCCA	0.358000														119			50		0	0	0.000781405	0	0
OTOP3	347741	broad.mit.edu	37	17	72943286	72943286	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:72943286C>G	uc010wrr.2	+	5	1336	c.1336C>G	c.(1336-1338)Ctc>Gtc	p.L446V	OTOP3_uc010wrq.2_Missense_Mutation_p.L428V	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	446						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCATGAGCTGCTCAACCGCCT	0.617000														34			5		0	0	0.000602214	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99023380	99023380	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:99023380C>G	uc001knb.3	-	3	456	c.410G>C	c.(409-411)cGa>cCa	p.R137P	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.R128P|ARHGAP19_uc009xvj.3_Missense_Mutation_p.R137P|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	137	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		ACCCTCTACTCGCAAGTCTGT	0.373000														13			29		0	0	0.00209593	0	0
NPC2	10577	broad.mit.edu	37	14	74951183	74951183	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:74951183G>A	uc001xpy.3	-	2	405	c.298C>T	c.(298-300)Cct>Tct	p.P100S	NPC2_uc010tus.2_Missense_Mutation_p.P100S	NM_006432	NP_006423	P61916	NPC2_HUMAN	Homo sapiens Niemann-Pick disease, type C2 (NPC2), mRNA.	100					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		TTTTGGATAGGGCAGTTAATT	0.478000														43			23		0	0	0.00229938	0	0
CEP290	80184	broad.mit.edu	37	12	88486551	88486551	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:88486551G>A	uc001tar.3	-	28	3712	c.3368C>T	c.(3367-3369)gCt>gTt	p.A1123V	CEP290_uc001taq.3_Missense_Mutation_p.A183V	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1123					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CACACTATCAGCTAATTCATC	0.348000														125			34		0	0	0.00111076	0	0
COL15A1	1306	broad.mit.edu	37	9	101777809	101777809	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:101777809C>T	uc004azb.1	+	9	1670	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	488	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCTGGCTCCCCTCACAGCCA	0.567000														21			21		0	0	0.00278032	0	0
C8orf76	84933	broad.mit.edu	37	8	124232387	124232387	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:124232387G>A	uc003yqc.2	-	5	1151	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S		NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	367							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTCAAATGGACAGAAATGG	0.383000														62			33		0	0	0.000953801	0	0
OR4L1	122742	broad.mit.edu	37	14	20528236	20528236	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:20528236G>A	uc001vwn.1	+	0	33	c.33G>A	c.(31-33)gaG>gaA	p.E11E		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E11*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAGTGACCGAGTTTATTTTAC	0.338000														72			29		0	0	0.00209593	0	0
LILRA5	353514	broad.mit.edu	37	19	54823302	54823302	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:54823302C>T	uc002qfe.3	-	3	361	c.241G>A	c.(241-243)Gag>Aag	p.E81K	LILRA5_uc002qff.3_Missense_Mutation_p.E69K|LILRA5_uc010yev.2_Missense_Mutation_p.E81K|LILRA5_uc010yew.2_Missense_Mutation_p.E69K|LILRA5_uc002qfg.1_Missense_Mutation_p.E81K|LILRA5_uc002qfh.1_Missense_Mutation_p.E69K	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	81	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTTCCCTCTTTAACCAGA	0.592000														75			56		0	0	0.000781405	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931004	157931004	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:157931004G>A	uc003wno.3	-	6	1235	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	PTPRN2_uc003wnp.3_Missense_Mutation_p.R355C|PTPRN2_uc003wnq.3_Missense_Mutation_p.R372C|PTPRN2_uc003wnr.3_Missense_Mutation_p.R334C|PTPRN2_uc011kwa.2_Missense_Mutation_p.R395C	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	372						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R372C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGTCTCCACGGAGGGTGGCC	0.677000														32			17		0	0	0.000958276	0	0
NLRC3	197358	broad.mit.edu	37	16	3604305	3604305	+	Silent	SNP	C	T	T	rs141569334	by1000genomes	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:3604305C>T	uc010btn.3	-	8	2616	c.2205G>A	c.(2203-2205)agG>agA	p.R735R	NLRC3_uc010bto.1_5'UTR	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	735					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCATCATCCCTAACGGTGT	0.592000														22			21		0	0	0.000720815	0	0
MAPK4	5596	broad.mit.edu	37	18	48190390	48190390	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:48190390T>G	uc002lev.3	+	1	1062	c.62T>G	c.(61-63)gTt>gGt	p.V21G	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.V21G	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	21	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGGCGCTTTGTTGACTTCCAA	0.597000														71			41		0	0	0.0025221	0	0
MYH4	4622	broad.mit.edu	37	17	10348605	10348605	+	Silent	SNP	G	A	A	rs149221663		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:10348605G>A	uc002gmn.3	-	35	5355	c.5244C>T	c.(5242-5244)atC>atT	p.I1748I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1748					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCCTGGACGATGTCCTCCA	0.468000														103			31		0	0	0.0024448	0	0
LRRC55	219527	broad.mit.edu	37	11	56949896	56949896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:56949896C>T	uc001njl.2	+	0	676	c.529C>T	c.(529-531)Cag>Tag	p.Q177*		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	147						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CGACATGTTCCAGGAGGCCCA	0.612000														3			12		0	0	0.000978159	0	0
FAM47A	158724	broad.mit.edu	37	X	34149691	34149691	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:34149691G>A	uc004ddg.3	-	0	757	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	235	Pro-rich.							p.L235_H246delLRPEPPETGVSH(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						GCTCCGGGCGGAGATGGGACA	0.632000														8			30		0	0	0.0024448	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956987	33956987	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:33956987C>T	uc001bxj.4	+	5	1296	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	ZSCAN20_uc001bxk.2_Missense_Mutation_p.R323C|ZSCAN20_uc009vui.3_Missense_Mutation_p.R377C	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	377					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCAATGTCGCTATAGGGT	0.572000														55			46		0	0	0.000781405	0	0
GLT8D2	83468	broad.mit.edu	37	12	104388185	104388185	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:104388185A>G	uc001tkh.1	-	8	1252	c.695T>C	c.(694-696)gTt>gCt	p.V232A	GLT8D2_uc001tki.1_Missense_Mutation_p.V232A	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	232						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CATGTTGGCAACAATCACACC	0.468000														40			16		0	0	0.000422831	0	0
TPTE	7179	broad.mit.edu	37	21	10996106	10996106	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:10996106C>T	uc002yis.1	-	11		c.2080G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGCCCAGTTCGACTTCTTTG	0.413000														54			10		0	0	0.000978159	0	0
TOX2	84969	broad.mit.edu	37	20	42680092	42680092	+	Silent	SNP	C	T	T	rs144641336		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:42680092C>T	uc010ggo.3	+	3	598	c.558C>T	c.(556-558)atC>atT	p.I186I	TOX2_uc002xle.4_Silent_p.I144I|TOX2_uc010ggp.3_Silent_p.I144I|TOX2_uc002xlf.4_Silent_p.I195I|TOX2_uc010zwk.2_Silent_p.I64I	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D185N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGAGCAGCATCGCCCACAGCT	0.657000														19			18		0	0	0.000566183	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148715246	148715246	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:148715246C>T	uc003lqh.3	+	17	2375	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	AFAP1L1_uc010jgy.3_Intron|AFAP1L1_uc003lqi.2_Silent_p.I363I	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	748							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCATCCATCGTAGCCTCCA	0.502000														58			76		0	0	0.000781405	0	0
CHRND	1144	broad.mit.edu	37	2	233398938	233398938	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:233398938G>A	uc002vsw.3	+	10	1261	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	CHRND_uc010zmg.2_Silent_p.R404R|CHRND_uc010zmh.2_Silent_p.R225R	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	419					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTGTAGGCCGGCCCCCAGCAA	0.607000														25			31		0	0	0.001512	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140180842	140180842	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140180842C>T	uc003lhf.2	+	0	60	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L20L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	33					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTCTGCTCCTCGCAGCCT	0.572000														24			84		0	0	0.000781405	0	0
C20orf132	140699	broad.mit.edu	37	20	35766354	35766354	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:35766354A>G	uc010zvu.2	-	13	1599	c.1508T>C	c.(1507-1509)gTt>gCt	p.V503A	C20orf132_uc002xgk.3_Missense_Mutation_p.V135A|C20orf132_uc002xgm.2_Missense_Mutation_p.V503A|C20orf132_uc002xgn.2_Missense_Mutation_p.V468A	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	388										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				GGCACAGATAACTCCCATAAT	0.398000														20			7		0	0	0.000274275	0	0
HAS1	3036	broad.mit.edu	37	19	52220346	52220346	+	Missense_Mutation	SNP	C	G	G	rs137939869		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:52220346C>G	uc002pxn.1	-	1	837	c.824G>C	c.(823-825)cGg>cCg	p.R275P	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.R233P|HAS1_uc002pxo.1_Missense_Mutation_p.R268P|HAS1_uc002pxp.1_Missense_Mutation_p.R267P	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	268					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTAAGGATCCGCACGTCCCC	0.607000														32			10		0	0	0.00136819	0	0
PEAR1	375033	broad.mit.edu	37	1	156873774	156873774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:156873774G>A	uc001fqj.1	+	1	172	c.56G>A	c.(55-57)gGa>gAa	p.G19E	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	19						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGCTGGCTGGAACTCTCAAC	0.637000														111			55		0	0	0.000781405	0	0
C4orf21	55345	broad.mit.edu	37	4	113505255	113505255	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:113505255G>A	uc003iau.3	-	14	4388	c.4177C>T	c.(4177-4179)Cca>Tca	p.P1393S	C4orf21_uc003iav.3_Non-coding_Transcript	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GAATATCCTGGAGTCACGTCC	0.383000														38			24		0	0	0.00278032	0	0
TTN	7273	broad.mit.edu	37	2	179439291	179439291	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179439291G>C	uc021vsy.1	-	274	64089	c.63864C>G	c.(63862-63864)agC>agG	p.S21288R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S14983R|TTN_uc021vta.1_Missense_Mutation_p.S14916R|TTN_uc021vtb.1_Missense_Mutation_p.S14791R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22215	Fibronectin type-III 54.						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)			CTAAAATGGGGCTTCCACCAT	0.433000														53			20		0	0	0.000958276	0	0
COL3A1	1281	broad.mit.edu	37	2	189868844	189868844	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:189868844G>A	uc002uqj.1	+	38	2915	c.2798G>A	c.(2797-2799)gGa>gAa	p.G933E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	933	Triple-helical region.				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)	GGAGAGAAGGGATCGCCTGGT	0.493000														30			12		0	0	0.00185496	0	0
PKD1L2	114780	broad.mit.edu	37	16	81208372	81208372	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:81208372C>T	uc002fgh.1	-	15	2731	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Missense_Mutation_p.E226K|PKD1L2_uc002fgj.3_Missense_Mutation_p.E911K|PKD1L2_uc002fgk.1_Missense_Mutation_p.E53K|PKD1L2_uc002fgl.1_Missense_Mutation_p.E167K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	911	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.H910H(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTGGCTTTCATGCTCTTGG	0.607000														12			4		0	0	0.00116845	0	0
RGL4	266747	broad.mit.edu	37	22	24038875	24038876	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:24038875_24038876GG>AA	uc002zxo.3	+	7	2418	c.1161_splice	c.e7+1	p.K387_splice	GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Splice_Site_p.K387_splice|RGL4_uc002zxp.1_Splice_Site_p.K251_splice|RGL4_uc002zxq.3_Splice_Site_p.K251_splice			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	387	Ras-GEF.				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						GGCAGAAGAAGGTGAGTGAGCC	0.649000														17			11		0	0	6.4e-05	0	0
FBXO41	150726	broad.mit.edu	37	2	73492531	73492531	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:73492531C>T	uc021vjh.1	-	3	1533	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	481						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CACCCTCTTCCCCCTCAGTGC	0.701000														10			20		0	0	0.00121646	0	0
KLHL17	339451	broad.mit.edu	37	1	898587	898587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:898587C>T	uc001aca.2	+	6	1248	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_Silent_p.P129P	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	381	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGCCGGGCCCGGGTGGGAGT	0.706000														16			7		0	0	0.000157383	0	0
GABRG3	2567	broad.mit.edu	37	15	27572117	27572117	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:27572117C>T	uc001zbg.2	+	3	686	c.432C>T	c.(430-432)atC>atT	p.I144I	GABRG3_uc001zbf.3_Silent_p.I144I	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	144					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTCACTGGATCACCACACCCA	0.448000														19			27		0	0	0.000720815	0	0
FOCAD	54914	broad.mit.edu	37	9	20988359	20988359	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:20988359G>A	uc003zog.1	+	42	5298	c.4935G>A	c.(4933-4935)ttG>ttA	p.L1645L	FOCAD_uc003zoh.1_Silent_p.L1081L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1645						integral to membrane	binding										AGTGGCTCTTGGAACTGATGG	0.378000														30			21		0	0	0.00047179	0	0
OR56A5	390084	broad.mit.edu	37	11	5988893	5988893	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:5988893G>A	uc010qzu.2	-	0	832	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	278						integral to membrane|plasma membrane	olfactory receptor activity										ATGTTGAGCAGGATGGGGACA	0.522000														7			12		0	0	0.00244969	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415306	210415306	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:210415306C>T	uc001hhy.3	+	3	874	c.695C>T	c.(694-696)tCt>tTt	p.S232F	SERTAD4_uc009xcw.3_Missense_Mutation_p.S232F	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	232	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		tcctcttcctctccccctTTG	0.488000														38			46		0	0	0.00285205	0	0
BC101079	0	broad.mit.edu	37	15	102291841	102291841	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:102291841C>T	uc010usj.2	+	2	208	c.149C>T	c.(148-150)tCc>tTc	p.S50F	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		CTGGTGGACTCCTACATGGCC	0.547000														26			12		0	0	0.000308642	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72013120	72013120	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:72013120T>C	uc001swo.2	-	26	5478	c.5119A>G	c.(5119-5121)Aag>Gag	p.K1707E		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1707					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTATTATACTTCTCAAACCCC	0.348000														30			10		0	0	0.00136819	0	0
NOS1	4842	broad.mit.edu	37	12	117696239	117696239	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:117696239C>T	uc001twn.2	-	15	3205	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	NOS1_uc021ren.1_Missense_Mutation_p.E496K|NOS1_uc021reo.1_Missense_Mutation_p.E496K|NOS1_uc001twm.2_Missense_Mutation_p.E832K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	832	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCCTCATTTCCATCAAAGCA	0.498000														30			17		0	0	0.00152264	0	0
FLG2	388698	broad.mit.edu	37	1	152328874	152328874	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:152328874G>A	uc001ezw.4	-	2	1461	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	463	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAGCCCAAGGATTGACTTGA	0.507000														23			179		0	0	0.000781405	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111797664	111797664	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:111797664G>A	uc010hqb.2	+	14	2092	c.1922G>A	c.(1921-1923)gGg>gAg	p.G641E	TMPRSS7_uc011bhr.1_Missense_Mutation_p.G496E	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	767	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACCTACGGGATCATCACT	0.468000														8			43		0	0	0.000680045	0	0
SCN3A	6328	broad.mit.edu	37	2	165997446	165997446	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:165997446G>A	uc002ucx.3	-	12	2226	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	SCN3A_uc002ucy.3_Silent_p.F578F|SCN3A_uc002ucz.3_Silent_p.F578F|SCN3A_uc002uda.1_Silent_p.F447F|SCN3A_uc002udb.1_Silent_p.F447F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	578						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCTGAAACTGAAAATGCTTG	0.463000														26			14		0	0	0.000308642	0	0
DLG4	1742	broad.mit.edu	37	17	7107068	7107068	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7107068G>A	uc010vtn.2	-	3	358	c.98C>T	c.(97-99)tCc>tTc	p.S33F	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.S90F|DLG4_uc002get.4_Missense_Mutation_p.S136F|DLG4_uc010vto.2_Missense_Mutation_p.S133F|DLG4_uc002geu.3_Missense_Mutation_p.S90F	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	93					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GATGAAAATGGATGGGTCGTC	0.607000														23			27		0	0	0.000720815	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377269	49377269	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:49377269G>A	uc002pky.4	+	1	1048	c.779G>A	c.(778-780)tGg>tAg	p.W260*		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	260	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCCAGGTCCTGGGAGTATCGT	0.562000														32			10		0	0	0.000673444	0	0
MGAM	8972	broad.mit.edu	37	7	141797419	141797419	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:141797419C>T	uc003vwy.3	+	42	5085	c.5031C>T	c.(5029-5031)ttC>ttT	p.F1677F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1677	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCATATTTCCCTAGAGCCC	0.393000														32			42		0	0	0.000781405	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884953	12884953	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:12884953G>A	uc001auk.2	-	3	1354	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	386										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCTCCAGCAGAGAGTACCAT	0.502000														100			136		0	0	0.000781405	0	0
ADAM7	8756	broad.mit.edu	37	8	24346676	24346676	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:24346676C>T	uc003xeb.3	+	11	1209	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	ADAM7_uc003xec.3_Missense_Mutation_p.P138S	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	366	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P366H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTCTAGCATTCCTGCACTGAA	0.348000														42			31		0	0	0.00058488	0	0
DDX42	11325	broad.mit.edu	37	17	61889390	61889390	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:61889390G>A	uc002jbu.3	+	14	1754	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	DDX42_uc002jbv.3_Silent_p.G499G|DDX42_uc002jbw.1_Silent_p.G235G|DDX42_uc002jbx.3_Silent_p.G235G|DDX42_uc002jby.3_Silent_p.G45G	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	499	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCTCTTCAGGGAGTGTCCTCC	0.458000														89			168		0	0	0.000781405	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370073	86370073	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:86370073G>A	uc001vll.1	-	1	1030	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	SLITRK6_uc021rla.1_Missense_Mutation_p.R191C	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	191						integral to membrane		p.R191C(2)|p.L190I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGATTTCCACGAAGATCTAGA	0.388000														110			66		0	0	0.000781405	0	0
TAGLN3	29114	broad.mit.edu	37	3	111732306	111732306	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:111732306G>A	uc003dym.3	+	4	886	c.508G>A	c.(508-510)Gga>Aga	p.G170R	TAGLN3_uc003dyl.3_Missense_Mutation_p.G170R|TAGLN3_uc003dyn.3_Missense_Mutation_p.G170R|TAGLN3_uc003dyo.3_Missense_Mutation_p.G170R	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	170					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GCTTCGCCAGGGACAGAACGT	0.557000														8			41		0	0	0.00148497	0	0
MST1P2	11209	broad.mit.edu	37	1	16975699	16975699	+	RNA	SNP	A	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:16975699A>C	uc010och.2	+	9		c.1848A>C			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGGGGTCTCTAGTGAAGGAGC	0.587000														22			4		0	0	0.000274275	0	0
AK302879	0	broad.mit.edu	37	15	76074702	76074702	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:76074702G>C	uc010umm.1	+	8	774	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank|DQ582208_uc021sqs.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		CCGGTGGCAGGAGAGGATGTG	0.488000														45			4		0	0	0.00116845	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74876892	74876892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:74876892C>T	uc001owb.3	+	3	741	c.346C>T	c.(346-348)Cga>Tga	p.R116*	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_5'UTR|SLCO2B1_uc001owc.3_5'UTR|SLCO2B1_uc001owd.3_Nonsense_Mutation_p.R94*	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	116					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.R116L(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GCACCGACCCCGAATGATTGG	0.572000														20			71		0	0	0.000781405	0	0
SUSD1	64420	broad.mit.edu	37	9	114905867	114905867	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:114905867T>C	uc010mui.3	-	3	451	c.410A>G	c.(409-411)cAt>cGt	p.H137R	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.H137R|SUSD1_uc010muj.3_Missense_Mutation_p.H137R			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	137	EGF-like 3; calcium-binding (Potential).					integral to membrane	calcium ion binding	p.H137Y(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCGCCCTCCATGCCTGCACAG	0.453000														187			24		0	0	0.000878237	0	0
RP1	6101	broad.mit.edu	37	8	55540307	55540307	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:55540307G>A	uc003xsd.1	+	3	4013	c.3865G>A	c.(3865-3867)Gat>Aat	p.D1289N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1289					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)			TTATGGTGTGGATCAGACTTC	0.408000														121			77		0	0	0.000781405	0	0
NXF5	55998	broad.mit.edu	37	X	101096040	101096040	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:101096040C>T	uc011mrk.1	-	7	788	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	143					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.R143Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GCAGTTTCTTCGATTCAGGAT	0.522000														85			63		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179495596C>T	uc021vsy.1	-	186	36610	c.36385G>A	c.(36385-36387)Gaa>Aaa	p.E12129K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5824K|TTN_uc021vta.1_Missense_Mutation_p.E5757K|TTN_uc021vtb.1_Missense_Mutation_p.E5632K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13056	Ig-like 80.						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)			TCAGAGATTTCGGTTTCAAAG	0.493000														62			17		0	0	0.000566183	0	0
PGD	5226	broad.mit.edu	37	1	10464254	10464254	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:10464254T>G	uc001arc.3	+	4	457	c.367T>G	c.(367-369)Ttt>Gtt	p.F123V	PGD_uc010oak.2_Missense_Mutation_p.F101V	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	123					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GGGAATTTTATTTGTGGGGAG	0.493000														48			31		0	0	0.00283554	0	0
SLC16A2	6567	broad.mit.edu	37	X	73751372	73751372	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:73751372C>T	uc004ebt.2	+	5	1992	c.1826C>T	c.(1825-1827)cCt>cTt	p.P609L	SLC16A2_uc010nlr.1_3'UTR	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	535						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.P609P(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCCCCCAACCCTGAGGAACCA	0.532000														12			14		0	0	0.00244969	0	0
CUX1	1523	broad.mit.edu	37	7	101845040	101845040	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:101845040G>A	uc003uys.4	+	17	2623	c.2496G>A	c.(2494-2496)aaG>aaA	p.K832K	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.K821K	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	821					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTGCCTGGAAGGACCACTGGT	0.672000														26			8		0	0	0.000274275	0	0
LEPR	3953	broad.mit.edu	37	1	66083769	66083769	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:66083769G>A	uc001dci.3	+	15	2724	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	LEPR_uc001dcg.3_Missense_Mutation_p.E779K|LEPR_uc001dch.3_Missense_Mutation_p.E779K|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.E779K|LEPR_uc001dcj.3_Missense_Mutation_p.E779K|LEPR_uc001dck.3_Missense_Mutation_p.E779K	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	779	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAATCTTAATGAAGATGGTGA	0.313000														83			15		0	0	0.000566183	0	0
CRIP2	1397	broad.mit.edu	37	14	105944790	105944790	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:105944790G>C	uc001yrd.1	+	2	211	c.142G>C	c.(142-144)Gac>Cac	p.D48H	CRIP2_uc010tyr.1_Missense_Mutation_p.D122H|CRIP2_uc001yrc.2_Non-coding_Transcript|CRIP2_uc001yrf.1_Non-coding_Transcript|CRIP2_uc001yrg.2_Non-coding_Transcript	NM_001312	NP_001303	P52943	CRIP2_HUMAN	Homo sapiens cysteine-rich protein 2 (CRIP2), mRNA.	48	LIM zinc-binding 1.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		TGCGCAGCATGACGGGAAGCC	0.741000														6			3		0	0	6.4e-05	0	0
STMN4	81551	broad.mit.edu	37	8	27098674	27098674	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:27098674G>A	uc011lak.2	-	4	410	c.296C>T	c.(295-297)tCc>tTc	p.S99F	STMN4_uc003xfj.3_Missense_Mutation_p.S99F|STMN4_uc011lai.2_Missense_Mutation_p.S99F|STMN4_uc011laj.2_Missense_Mutation_p.S63F|STMN4_uc003xfk.3_Missense_Mutation_p.S72F|STMN4_uc010luo.3_Missense_Mutation_p.S72F	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	72					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CCCATCAAAGGAGGGTGGCTT	0.557000														67			69		0	0	0.000781405	0	0
LAMB4	22798	broad.mit.edu	37	7	107674720	107674720	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:107674720C>T	uc010ljo.1	-	30	4835	c.4751G>A	c.(4750-4752)gGa>gAa	p.G1584E	LAMB4_uc003vey.2_Missense_Mutation_p.G1584E|LAMB4_uc010ljp.1_Missense_Mutation_p.G553E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1584	Domain I.				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						GTTTGCCCGTCCTTGAGTGAT	0.333000														67			90		0	0	0.000781405	0	0
HERC3	8916	broad.mit.edu	37	4	89571022	89571022	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:89571022C>T	uc003hrw.1	+	3	424	c.258C>T	c.(256-258)atC>atT	p.I86I	HERC3_uc003hrv.3_Silent_p.I86I|HERC3_uc011cdn.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	86					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	p.I86M(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		ATCAGCATATCATTCATGTGG	0.498000														60			28		0	0	0.001512	0	0
LOC442459	442459	broad.mit.edu	37	X	98975170	98975170	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:98975170C>T	uc011mrd.1	-	7		c.1173G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		TCTTCTGTTTCCTCTTTCTCC	0.453000														2			16		0	0	0.000566183	0	0
SART3	9733	broad.mit.edu	37	12	108932790	108932790	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:108932790G>A	uc001tmz.1	-	6	1217	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	SART3_uc001tmy.1_5'UTR|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.R328C|SART3_uc010swy.1_Missense_Mutation_p.R214C|SART3_uc010swz.1_Missense_Mutation_p.R328C|SART3_uc001tna.1_Non-coding_Transcript	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	328					RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACTGAATGCGAGCAGGATCG	0.453000									Porokeratosis					19			14		0	0	0.00185496	0	0
KCNS3	3790	broad.mit.edu	37	2	18113306	18113306	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:18113306C>T	uc021veh.1	+	0	1031	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	KCNS3_uc002rcv.3_Missense_Mutation_p.S344F|KCNS3_uc002rcw.3_Missense_Mutation_p.S344F	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	344					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTATCTACTCCGTGGAGAAA	0.537000														34			31		0	0	0.00178596	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070218	141070218	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:141070218C>T	uc010ncq.3	+	3	1298	c.458C>T	c.(457-459)tCc>tTc	p.S153F						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		AGCTCAAAATCCAGGAACGCT	0.617000														7			7		0	0	0.000274275	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7998374	7998374	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:7998374C>T	uc001aot.3	-	4	486	c.225G>A	c.(223-225)agG>agA	p.R75R		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	75					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		AACACTCCTTCCTGGTCCTGA	0.493000														48			11		0	0	0.00185496	0	0
OR2D3	120775	broad.mit.edu	37	11	6942547	6942547	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:6942547G>A	uc010rav.2	+	0	315	c.315G>A	c.(313-315)agG>agA	p.R105R		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGTAAAGAGGAAAACCATTT	0.418000														22			71		0	0	0.000781405	0	0
DNAH2	146754	broad.mit.edu	37	17	7671273	7671273	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7671273G>A	uc002giu.1	+	21	3745	c.3731G>A	c.(3730-3732)tGg>tAg	p.W1244*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1244	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGAGAACTGGAATGAGTGG	0.577000														16			14		0	0	0.00244969	0	0
G6PC2	57818	broad.mit.edu	37	2	169764518	169764518	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:169764518C>T	uc002uem.3	+	4	1089	c.997C>T	c.(997-999)Cta>Tta	p.L333L	G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Silent_p.L217L	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	333					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ATCCATTCCCCTAACTGTGGT	0.423000														33			42		0	0	0.00222228	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188281	135188281	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:135188281C>T	uc003laz.1	+	3	364	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SLC25A48_uc003lba.3_Silent_p.F64F			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	64					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCATGTCCTTCCCCCTCGCCA	0.627000														119			24		0	0	0.000586117	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001787	41001787	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:41001787G>A	uc003opi.3	-	2	618	c.519C>T	c.(517-519)ttC>ttT	p.F173F	UNC5CL_uc010jxe.1_Silent_p.F173F	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	173	ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGGCTTCAGGAAGGAGGCCC	0.617000														44			7		0	0	0.000157383	0	0
KIAA2013	90231	broad.mit.edu	37	1	11985629	11985629	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:11985629C>T	uc001atl.2	-	0	857	c.666G>A	c.(664-666)ggG>ggA	p.G222G	KIAA2013_uc001atk.3_Silent_p.G222G	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	Homo sapiens KIAA2013 (KIAA2013), mRNA.	222						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGTGGGCCCCACAGTCT	0.672000														10			12		0	0	0.00244969	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161168006	161168006	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:161168006A>C	uc001fyt.4	-	0	840	c.412T>G	c.(412-414)Tcg>Gcg	p.S138A	ADAMTS4_uc001fyu.2_Missense_Mutation_p.S138A|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	138					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GATGCCACCGACTCCGGATCT	0.637000														43			22		0	0	0.00047179	0	0
PCLO	27445	broad.mit.edu	37	7	82785179	82785180	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:82785179_82785180CC>TT	uc003uhx.2	-	1	1066_1067	c.777_778GG>AA	c.(775-780)cagggt>caAAgt	p.G260S	PCLO_uc003uhv.2_Missense_Mutation_p.G260S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	260	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGTAGGACCCTGAATTGGCT	0.470000														36			28		0	0	6.4e-05	0	0
FAM120A	23196	broad.mit.edu	37	9	96323390	96323390	+	Splice_Site	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:96323390G>A	uc004atw.3	+	16	2832	c.2807_splice	c.e16-1	p.G936_splice	FAM120A_uc004aty.3_Splice_Site_p.G717_splice|FAM120A_uc004atz.3_Splice_Site_p.G584_splice|FAM120A_uc010mrg.3_Splice_Site_p.G203_splice|FAM120A_uc004aua.1_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	936	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTTTTATGCAGGAGTCCAACC	0.443000														51			17		0	0	0.000958276	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458966	120458966	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:120458966T>A	uc001eik.3	-	33	6676	c.6379A>T	c.(6379-6381)Aag>Tag	p.K2127*		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2127					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACTACCCTTGGCATCCTTT	0.512000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					460			140		0	0	0.000781405	0	0
NLRP4	147945	broad.mit.edu	37	19	56369580	56369580	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:56369580C>T	uc002qmd.4	+	2	1243	c.821C>T	c.(820-822)tCc>tTc	p.S274F	NLRP4_uc002qmf.3_Missense_Mutation_p.S199F|NLRP4_uc010etf.3_Missense_Mutation_p.S105F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	274	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGGCCTCCCTGCTCATC	0.567000														45			23		0	0	0.00278032	0	0
SFRP2	6423	broad.mit.edu	37	4	154702764	154702764	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:154702764A>T	uc003inv.1	-	2	968	c.727T>A	c.(727-729)Ttg>Atg	p.L243M		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	243	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GTGCACTGCAAGCTGTCTTTG	0.532000														47			27		0	0	0.000586117	0	0
RP1L1	94137	broad.mit.edu	37	8	10466326	10466327	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:10466326_10466327CC>AA	uc003wtc.3	-	3	5510_5511	c.5281_5282GG>TT	c.(5281-5283)ggg>TTg	p.G1761L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1761					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTGCCTCCCCGAGTTTGGGA	0.624000														233			10		0	0	6.4e-05	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112694228	112694228	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:112694228C>T	uc004bei.2	+	5	608	c.416C>T	c.(415-417)tCc>tTc	p.S139F	PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.S139F|PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.S139F|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.S139F|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding	p.S138F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TACATTTCCTCCCAGCTTCCC	0.542000														193			74		0	0	0.000781405	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572167	140572167	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140572167C>T	uc003lix.3	+	0	216	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	14					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGGCAAGTCCTGTTTCTTT	0.463000														72			93		0	0	0.000781405	0	0
FLI1	2313	broad.mit.edu	37	11	128680668	128680668	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:128680668C>T	uc010sbu.2	+	8	1487	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	FLI1_uc010sbt.2_Missense_Mutation_p.P189S|FLI1_uc010sbv.2_Missense_Mutation_p.P349S|FLI1_uc009zci.3_Missense_Mutation_p.P316S	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	382					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GTACAAGTACCCTTCTGACAT	0.527000			T	EWSR1	Ewing sarcoma									7			16		0	0	0.000422831	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624884	6624884	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:6624884T>C	uc003sqi.3	+	7	1092	c.734T>C	c.(733-735)cTt>cCt	p.L245P	ZDHHC4_uc003sql.3_Missense_Mutation_p.L245P|ZDHHC4_uc003sqj.3_Missense_Mutation_p.L245P|ZDHHC4_uc003sqh.3_Missense_Mutation_p.L245P	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	245						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACGGTCTTTCTTATTCAGGTA	0.413000														35			27		0	0	0.00178596	0	0
ACSS3	79611	broad.mit.edu	37	12	81568698	81568698	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:81568698G>A	uc001szl.1	+	7	1321	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ACSS3_uc001szm.1_Silent_p.G409G|ACSS3_uc001szn.1_Silent_p.G92G	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	410						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CAGCTTTGGGGAAGCAGTACT	0.448000														48			17		0	0	0.00121646	0	0
FMN2	56776	broad.mit.edu	37	1	240341305	240341305	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:240341305C>T	uc010pye.2	+	2	2092	c.1867C>T	c.(1867-1869)Cca>Tca	p.P623S	FMN2_uc010pyd.2_Missense_Mutation_p.P623S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	623					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TAGGCGAGTTCCATCCATGGG	0.458000														11			65		0	0	0.000781405	0	0
COL15A1	1306	broad.mit.edu	37	9	101778395	101778395	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:101778395C>T	uc004azb.1	+	10	1847	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	547	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AAAGATGGATCACTCCAGTAA	0.592000														21			35		0	0	0.00111076	0	0
CD163L1	283316	broad.mit.edu	37	12	7596704	7596704	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:7596704G>A	uc010sge.2	-	0	46	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CD163L1_uc001qsy.3_Missense_Mutation_p.S7L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	7						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AATATGCCACGAGTTTTGAGG	0.378000														43			14		0	0	0.000422831	0	0
ATP13A5	344905	broad.mit.edu	37	3	192993046	192993046	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:192993046C>T	uc011bsq.2	-	29	3442	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1148					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R1147R(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AATCCAAATTCTCTTTTGATC	0.413000														60			44		0	0	0.000781405	0	0
THRAP3	9967	broad.mit.edu	37	1	36754862	36754863	+	Nonsense_Mutation	DNP	CC	GT	GT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:36754862_36754863CC>GT	uc001cae.4	+	4	1466_1467	c.1242_1243CC>GT	c.(1240-1245)ctccga>ctGTga	p.R415*	THRAP3_uc001caf.4_Nonsense_Mutation_p.R415*|THRAP3_uc001cag.1_Nonsense_Mutation_p.R415*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	415					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTATAAGCTCCGAGATGACTT	0.436000			T	USP6	aneurysmal bone cysts									34			38		0	0	6.4e-05	0	0
ACSS3	79611	broad.mit.edu	37	12	81536990	81536990	+	Silent	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:81536990T>C	uc001szl.1	+	4	976	c.885T>C	c.(883-885)taT>taC	p.Y295Y	ACSS3_uc001szm.1_Silent_p.Y294Y	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	295						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACCCACTGTATATTCTTTACA	0.443000														50			9		0	0	0.000978159	0	0
ARL8A	127829	broad.mit.edu	37	1	202113662	202113662	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:202113662C>T	uc001gxk.1	-	0	205	c.39G>A	c.(37-39)aaG>aaA	p.K13K		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	Homo sapiens ADP-ribosylation factor-like 8A (ARL8A), transcript variant 1, mRNA.	13					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	GTP binding|GTPase activity|alpha-tubulin binding|beta-tubulin binding			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGAATAGGGCCTTGAACCAGT	0.662000														4			50		0	0	0.000781405	0	0
OR2L2	26246	broad.mit.edu	37	1	248202182	248202182	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:248202182T>A	uc001idw.3	+	0	709	c.613T>A	c.(613-615)Ttt>Att	p.F205I	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGCACCATCTTTCTTGTGCT	0.483000														201			46		0	0	0.000781405	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:22133973G>A	uc010tmd.2	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000														27			22		0	0	0.00188189	0	0
CCDC19	25790	broad.mit.edu	37	1	159863040	159863040	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:159863040C>T	uc001fui.3	-	1	77	c.59G>A	c.(58-60)aGg>aAg	p.R20K	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R20K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	20						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGCCTTATTCCTTGACCTGTT	0.507000														26			160		0	0	0.000781405	0	0
SCN8A	6334	broad.mit.edu	37	12	52163097	52163097	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:52163097C>T	uc001ryw.3	+	16	3528	c.3350C>T	c.(3349-3351)tCg>tTg	p.S1117L	SCN8A_uc010snl.2_Missense_Mutation_p.S1117L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1117					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)	AGCAGCGAGTCGGATCCTGAA	0.517000														22			12		0	0	0.00244969	0	0
CAV1	857	broad.mit.edu	37	7	116166591	116166591	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:116166591A>G	uc003vif.2	+	1	321	c.43A>G	c.(43-45)Acc>Gcc	p.T15A	CAV1_uc010lke.2_5'UTR|CAV1_uc010lkd.2_5'UTR|CAV1_uc003vig.2_5'UTR|CAV1_uc003vih.3_5'UTR|CAV1_uc010lkf.2_5'UTR	NM_001753	NP_001166368	Q03135	CAV1_HUMAN	Homo sapiens caveolin 1, caveolae protein, 22kDa (CAV1), transcript variant 1, mRNA.	15					T cell costimulation|blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|triglyceride metabolic process|vasculogenesis|vesicle organization	Golgi membrane|apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			ACATCTCTACACCGTTCCCAT	0.592000											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			28		0	0	0.00209593	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282822	47282822	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:47282822C>T	uc001cqn.4	+	8	1260	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	CYP4B1_uc001cqm.4_Silent_p.V391V|CYP4B1_uc009vym.3_Silent_p.V377V|CYP4B1_uc010omk.2_Silent_p.V228V	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	391					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCAAGCCTGTCACCTTTGTGG	0.567000														30			29		0	0	0.00106085	0	0
SUFU	51684	broad.mit.edu	37	10	104264003	104264003	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:104264003C>T	uc001kvy.2	+	0	285	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	SUFU_uc001kvw.2_Missense_Mutation_p.P32S|SUFU_uc001kvx.3_Missense_Mutation_p.P32S|ACTR1A_uc001kvv.3_5'Flank|ACTR1A_uc010qqn.2_5'Flank|ACTR1A_uc010qqo.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	32					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCTCTTTCCCCCGGGACTGCA	0.716000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					4			8		0	0	0.000157383	0	0
DBF4B	80174	broad.mit.edu	37	17	42828218	42828218	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42828218C>T	uc002ihf.3	+	13	1658	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	482					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CAAGAAAACTCCTTTGCCCCG	0.587000														30			32		0	0	0.00058488	0	0
DENND1A	57706	broad.mit.edu	37	9	126214555	126214555	+	Splice_Site	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:126214555G>A	uc011lzm.1	-	15	1417	c.1203_splice	c.e15+1	p.F401_splice	DENND1A_uc011lzl.1_Splice_Site_p.F208_splice|DENND1A_uc004bny.1_Splice_Site_p.F172_splice|DENND1A_uc004bnz.1_Splice_Site_p.F433_splice|DENND1A_uc004boa.1_Splice_Site_p.F433_splice|DENND1A_uc004bob.1_Splice_Site_p.F403_splice|DENND1A_uc004boc.3_Splice_Site_p.F401_splice	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	433						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGTACTTACGAACTTGTAGA	0.378000														78			30		0	0	0.000692331	0	0
ESRRA	2101	broad.mit.edu	37	11	64074719	64074719	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:64074719C>T	uc001nzq.1	+	1	245	c.68C>T	c.(67-69)cCa>cTa	p.P23L	ESRRA_uc001nzr.1_Missense_Mutation_p.P23L|ESRRA_uc001nzs.1_Missense_Mutation_p.P23L	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	23	Repressor domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CCTGACAGTCCAAAGGGTTCC	0.647000														6			15		0	0	0.000422831	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50431573	50431574	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:50431573_50431574GA>AT	uc003daq.3	-	3	469_470	c.431_432TC>AT	c.(430-432)ttc>tAT	p.F144Y	CACNA2D2_uc003dap.3_Missense_Mutation_p.F144Y	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	144					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTGCTTTCTGGAAGTTCTCTGC	0.589000														7			19		0	0	6.4e-05	0	0
RBBP6	5930	broad.mit.edu	37	16	24566945	24566945	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:24566945C>T	uc002dmh.3	+	4	1398	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	RBBP6_uc010vcb.1_5'UTR|RBBP6_uc002dmi.3_Silent_p.L120L|RBBP6_uc010bxr.3_Silent_p.L120L|RBBP6_uc002dmk.3_5'UTR	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GACTGCCAATCTGGCTGAAGC	0.373000														52			52		0	0	0.000781405	0	0
SACS	26278	broad.mit.edu	37	13	23929489	23929489	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:23929489C>T	uc001uon.2	-	7	1851	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	SACS_uc001uoo.2_Missense_Mutation_p.G274E|SACS_uc001uop.1_Missense_Mutation_p.G208E|SACS_uc001uoq.1_Missense_Mutation_p.G274E	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	421					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATGGCTATTCCAATGATTGG	0.433000														65			29		0	0	0.00209593	0	0
OTOGL	283310	broad.mit.edu	37	12	80729888	80729888	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:80729888G>A	uc001szd.3	+	37	4547	c.4541G>A	c.(4540-4542)aGt>aAt	p.S1514N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAAGTGAACAGTGATATCTGC	0.403000														14			21		0	0	0.00047179	0	0
PADI4	23569	broad.mit.edu	37	1	17682880	17682881	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:17682880_17682881GG>AA	uc001baj.2	+	12	1512_1513	c.1484_1485GG>AA	c.(1483-1485)agg>aAA	p.R495K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	495					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCCAGCCCCAGGTCCTGCTACA	0.609000														7			10		0	0	6.4e-05	0	0
KCNAB2	8514	broad.mit.edu	37	1	6142263	6142263	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:6142263G>C	uc009vlv.2	+	5	753	c.210G>C	c.(208-210)gaG>gaC	p.E70D	KCNAB2_uc001alv.2_Missense_Mutation_p.E70D|KCNAB2_uc001alw.2_Missense_Mutation_p.E56D|KCNAB2_uc001alx.2_Missense_Mutation_p.E70D|KCNAB2_uc001aly.2_Missense_Mutation_p.E103D|KCNAB2_uc009vlw.2_Missense_Mutation_p.E3D|KCNAB2_uc001alu.3_Missense_Mutation_p.E70D	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	70						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGCAGAGCAGCTCATGA	0.582000														82			19		0	0	0.00152264	0	0
ESF1	51575	broad.mit.edu	37	20	13752051	13752052	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:13752051_13752052CG>AT	uc002woj.3	-	5	1436_1437	c.1328_1329CG>AT	c.(1327-1329)ccg>cAT	p.P443H	ESF1_uc002wok.1_Missense_Mutation_p.P443H	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TAGCTGTTTCCGGAGAATCACA	0.337000														332			6		0	0	6.4e-05	0	0
CEP89	84902	broad.mit.edu	37	19	33444520	33444520	+	Splice_Site	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:33444520C>A	uc002nty.3	-	4	581	c.492_splice	c.e4+1	p.Q164_splice	CEP89_uc002ntx.3_Splice_Site|CEP89_uc010edg.3_Splice_Site|CEP89_uc002nua.3_Splice_Site_p.Q164_splice|CEP89_uc002nub.1_Splice_Site_p.Q56_splice	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	164						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ATAGAAAACACCTGATTTCTG	0.463000														517			21		1.1804e-14	4.80494e-14	0.000586117	1	0
VN1R4	317703	broad.mit.edu	37	19	53770866	53770866	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:53770866C>T	uc010ydu.2	-	0	53	c.53G>A	c.(52-54)gGa>gAa	p.G18E		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	18					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CCCCAGGACTCCCACCACGGT	0.498000										HNSCC(26;0.072)				51			19		0	0	0.000958276	0	0
AKR1B15	441282	broad.mit.edu	37	7	134254185	134254185	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:134254185G>A	uc011kpr.2	+	4	638	c.339G>A	c.(337-339)gaG>gaA	p.E113E		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	113							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTTTCTTTGAGAGACCCCTTG	0.463000														53			64		0	0	0.000781405	0	0
FRS3	10817	broad.mit.edu	37	6	41740577	41740577	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:41740577G>A	uc003orc.1	-	4	618	c.374C>T	c.(373-375)cCc>cTc	p.P125L		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	125					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAGCTCAGCGGGGTGGCTATT	0.572000														70			78		0	0	0.000781405	0	0
MCM6	4175	broad.mit.edu	37	2	136630274	136630274	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:136630274A>G	uc002tuw.3	-	1	323	c.247T>C	c.(247-249)Ttc>Ctc	p.F83L		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	83					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TACCTATAGAACTCCTCTTGA	0.428000														40			13		0	0	0.00185496	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044626	9044626	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:9044626G>A	uc003jek.2	-	21	3676	c.2964C>T	c.(2962-2964)ctC>ctT	p.L988L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	988					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGTATAGACGAGCAGGGTGA	0.562000														30			56		0	0	0.000781405	0	0
UVSSA	57654	broad.mit.edu	37	4	1360164	1360165	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:1360164_1360165CC>TT	uc003gde.4	+	7	1680_1681	c.1233_1234CC>TT	c.(1231-1236)gtccct>gtTTct	p.P412S	UVSSA_uc010ibv.3_5'UTR	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	412																	TTGTGGAGGTCCCTGAGAAGGA	0.609000														124			63		0	0	6.4e-05	0	0
ABCC12	94160	broad.mit.edu	37	16	48117931	48117931	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:48117931C>T	uc002efc.1	-	27	4228	c.3882G>A	c.(3880-3882)ctG>ctA	p.L1294L	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1294	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTTCTGAACCAGGGTGTCAG	0.527000														76			23		0	0	0.00047179	0	0
ABRA	137735	broad.mit.edu	37	8	107782392	107782392	+	Silent	SNP	C	T	T	rs138488793		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:107782392C>T	uc003ymm.4	-	0	81	c.27G>A	c.(25-27)ggG>ggA	p.G9G		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	9					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.S8I(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTGGGCCCTCCCCGCTTTCCT	0.607000														87			13		0	0	0.000422831	0	0
ADCY8	114	broad.mit.edu	37	8	131848660	131848660	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:131848660G>A	uc003ytd.4	-	11	2794	c.2538C>T	c.(2536-2538)acC>acT	p.T846T	ADCY8_uc010mds.3_Silent_p.T715T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	846					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAACTGCACAGGTCACCATGG	0.557000										HNSCC(32;0.087)				44			24		0	0	0.00278032	0	0
MRPS7	51081	broad.mit.edu	37	17	73259559	73259559	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:73259559C>T	uc002jnm.4	+	3	711	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	160					translation	cytosolic small ribosomal subunit|mitochondrion	RNA binding|protein binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TGGGCTGGTACCCATCCTCAA	0.532000														250			56		0	0	0.000781405	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377022	138377022	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:138377022C>T	uc022bpi.1	+	0	666	c.666C>T	c.(664-666)ttC>ttT	p.F222F	PPP1R26_uc004cfr.1_Silent_p.F222F	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	222						nucleolus	protein binding										ATGACTCCTTCGAGCAGAGCA	0.552000														81			31		0	0	0.000692331	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	C	C	rs121913377		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:140453134T>C	uc003vwc.4	-	14	1862	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		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(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(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)	CATCGAGATTTCACTGTAGCT	0.368000		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					49			55		0	0	0.000781405	0	0
MUSK	4593	broad.mit.edu	37	9	113449505	113449505	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:113449505G>A	uc022blv.1	+	2	449	c.315G>A	c.(313-315)gtG>gtA	p.V105V	MUSK_uc022blt.1_Silent_p.V105V|MUSK_uc004bez.2_Silent_p.V105V|MUSK_uc022blu.1_Silent_p.V105V	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	105	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACAATGGTGTGGGAGGAGCTG	0.502000														113			96		0	0	0.000781405	0	0
PRKAG2	51422	broad.mit.edu	37	7	151478268	151478268	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:151478268C>T	uc003wkk.3	-	2	1047	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	PRKAG2_uc003wkj.3_Missense_Mutation_p.G102S|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.G146S	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	146					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AACCTGATGCCCCCGGGCGAG	0.592000														83			26		0	0	0.00127121	0	0
MARC1	64757	broad.mit.edu	37	1	220970049	220970049	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:220970049T>C	uc001hmt.3	+	2	762	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	MARC1_uc001hms.3_Missense_Mutation_p.F172L	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	172							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GATAACCAGCTTCCTGAAGTC	0.602000														57			9		0	0	0.000442599	0	0
PTPRB	5787	broad.mit.edu	37	12	71002959	71002959	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:71002959C>T	uc001swb.4	-	1	245	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	PTPRB_uc010sto.2_Missense_Mutation_p.R72Q|PTPRB_uc010stp.2_Missense_Mutation_p.R72Q|PTPRB_uc001swc.4_Missense_Mutation_p.R290Q|PTPRB_uc001swa.4_Missense_Mutation_p.R290Q|PTPRB_uc001swd.4_Missense_Mutation_p.R289Q|PTPRB_uc009zrr.2_Missense_Mutation_p.R169Q|PTPRB_uc001swe.3_Missense_Mutation_p.R290Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	72	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTTGTCTATCCGAAAGGTAGG	0.463000														39			21		0	0	0.00229938	0	0
SLC2A14	144195	broad.mit.edu	37	12	7972128	7972128	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:7972128C>T	uc010sgh.2	-	7	1156	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R	SLC2A14_uc001qtk.3_Missense_Mutation_p.G364R|SLC2A14_uc001qtl.3_Missense_Mutation_p.G341R|SLC2A14_uc001qtm.3_Missense_Mutation_p.G341R|SLC2A14_uc010sgg.2_Missense_Mutation_p.G255R|SLC2A14_uc001qtn.3_Missense_Mutation_p.G364R|SLC2A14_uc001qto.3_5'UTR	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	364					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCATCCCTCCAAGGCCTATC	0.418000														52			49		0	0	0.000781405	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42442637	42442637	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:42442637C>T	uc001zoz.3	-	8	911	c.819G>A	c.(817-819)gaG>gaA	p.E273E	PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Silent_p.E24E|PLA2G4F_uc010bcr.3_Silent_p.E24E|PLA2G4F_uc010bcs.3_Silent_p.E60E	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	273					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGATGCCCCCCTCGCCCAGCT	0.617000														10			16		0	0	0.00188189	0	0
BCAM	4059	broad.mit.edu	37	19	45315444	45315444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:45315444C>T	uc002ozu.3	+	2	273	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	BCAM_uc002ozt.1_Missense_Mutation_p.R77C	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	77	Ig-like V-type 1.		R -> H (defines the Lu(a) antigen; dbSNP:rs28399653).		cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCTCGCCCCCGCCTAGCCTC	0.687000														32			32		0	0	0.00178596	0	0
EVPL	2125	broad.mit.edu	37	17	74005667	74005667	+	Missense_Mutation	SNP	C	T	T	rs147527679		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:74005667C>T	uc010wss.1	-	21	3913	c.3685G>A	c.(3685-3687)Gag>Aag	p.E1229K	EVPL_uc002jqi.2_Missense_Mutation_p.E1207K|EVPL_uc010wst.1_Missense_Mutation_p.E677K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1207	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATCTCCTGCTCTGTCTCCGGA	0.622000														65			17		0	0	0.000566183	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567189	142567189	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:142567189G>A	uc003evd.3	-	2	625	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	106	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAGTGCCACAGAAGCGGCCAA	0.527000														12			66		0	0	0.000781405	0	0
IMPA1	3612	broad.mit.edu	37	8	82571616	82571617	+	Missense_Mutation	DNP	AA	CC	CC			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:82571616_82571617AA>CC	uc003ych.2	-	8	930_931	c.803_804TT>GG	c.(802-804)gtt>gGG	p.V268G	IMPA1_uc011lfq.1_Missense_Mutation_p.V327G|IMPA1_uc011lfr.1_3'UTR	NM_005536	NP_005527	P29218	IMPA1_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 1 (IMPA1), transcript variant 1, mRNA.	268					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GCAAAGGTATAACCTGAATTTC	0.376000														63			38		0	0	6.4e-05	0	0
HIST1H4K	8362	broad.mit.edu	37	6	27799023	27799023	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:27799023C>T	uc003njr.3	-	0	283	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_003541	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4k (HIST1H4K), mRNA.	95					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						AGGGTGCGGCCCTGGCGCTTG	0.592000														32			21		0	0	0.00148497	0	0
LRP6	4040	broad.mit.edu	37	12	12315309	12315309	+	Silent	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:12315309C>A	uc001rah.4	-	9	2239	c.2097G>T	c.(2095-2097)gtG>gtT	p.V699V	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.V699V	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	699	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGAATTCTACCACATGTTCCA	0.443000														571			11		0.00185496	0.00741983	0.00185496	1	0
KRT76	51350	broad.mit.edu	37	12	53170566	53170566	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:53170566C>T	uc001sax.3	-	0	564	c.510G>A	c.(508-510)gtG>gtA	p.V170V		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	170	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTCGATCTCCACATTGAGGG	0.557000														33			6		0	0	0.000157383	0	0
RGPD4	285190	broad.mit.edu	37	2	108487515	108487515	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:108487515G>A	uc010ywk.2	+	19	3137	c.3055G>A	c.(3055-3057)Ggt>Agt	p.G1019S	RGPD4_uc002tdu.3_Missense_Mutation_p.G206S|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1019					intracellular transport		binding	p.G1019S(2)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAACACTTCCGGTGACTTTGA	0.388000														125			125		0	0	0.000781405	0	0
TCP10	6953	broad.mit.edu	37	6	167786842	167786842	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:167786842G>A	uc003qvv.1	-	7	1008	c.796C>T	c.(796-798)Cct>Tct	p.P266S	TCP10_uc003qvu.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	293						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGGTTTACAGGAAGATTCTGC	0.483000														31			14		0	0	0.000566183	0	0
SRRM2	23524	broad.mit.edu	37	16	2812281	2812281	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:2812281C>T	uc002crk.3	+	10	2301	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S	SRRM2_uc002crj.1_Silent_p.S488S|SRRM2_uc002crl.1_Silent_p.S584S|SRRM2_uc010bsu.1_Silent_p.S488S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	584	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding	p.S584F(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGGGCAGGTCCCGCTCTAGAA	0.627000														13			8		0	0	0.000157383	0	0
HYDIN	54768	broad.mit.edu	37	16	70972659	70972659	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:70972659C>T	uc002ezr.3	-	44	7002	c.6851_splice	c.e44-1	p.E2284_splice		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2285										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)				TGCTTGCGTTCTGTGAGGGGA	0.522000														26			5		0	0	0.00116845	0	0
ZNF257	113835	broad.mit.edu	37	19	22271596	22271596	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:22271596G>C	uc010ecx.3	+	3	1213	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D	ZNF257_uc010ecy.3_Missense_Mutation_p.E316D	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATGTGAAGAGTGTGGCAAAG	0.408000														11			16		0	0	0.00152264	0	0
MLL2	8085	broad.mit.edu	37	12	49428682	49428682	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:49428682G>A	uc001rta.4	-	34	10268	c.10268C>T	c.(10267-10269)cCc>cTc	p.P3423L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3423	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTTTGCAATGGGATCAATGAT	0.507000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				31			5		0	0	0.00116845	0	0
CECR2	27443	broad.mit.edu	37	22	18022035	18022035	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:18022035C>T	uc010gqw.1	+	14	2131	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	CECR2_uc010gqv.1_Missense_Mutation_p.P572S|CECR2_uc002zml.2_Missense_Mutation_p.P572S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	755					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGGATTCATTCCTCCCCGGCA	0.562000														11			8		0	0	0.000274275	0	0
CHRM3	1131	broad.mit.edu	37	1	240072373	240072374	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:240072373_240072374CC>TT	uc021plc.1	+	0	1622_1623	c.1622_1623CC>TT	c.(1621-1623)ccc>cTT	p.P541L	CHRM3_uc001hyp.3_Missense_Mutation_p.P541L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	541					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCGTGAACCCCGTGTGCTATG	0.485000														11			64		0	0	6.4e-05	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962806	69962806	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:69962806C>T	uc003heg.4	+	0	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	UGT2B7_uc010ihq.3_Missense_Mutation_p.P190S	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	190					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTTATTTTCCCTCCTTCCTA	0.388000														61			36		0	0	0.00283554	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28966005	28966005	+	Splice_Site	SNP	T	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:28966005T>G	uc002dru.3	+	3	593	c.578_splice	c.e3+2	p.L193_splice	NPIPL1_uc010vct.2_Intron|NFATC2IP_uc002drt.3_Intron	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein (NFATC2IP), mRNA.	193						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AGAGTTTCTGTGAGTGAGGCC	0.547000														13			33		0	0	0.000953801	0	0
PARD3B	117583	broad.mit.edu	37	2	206480438	206480438	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:206480438G>A	uc002var.2	+	22	3726	c.3519G>A	c.(3517-3519)caG>caA	p.Q1173Q	PARD3B_uc002vao.2_Silent_p.Q1072Q|PARD3B_uc002vap.2_Silent_p.Q1111Q|PARD3B_uc002vaq.2_Silent_p.Q1104Q	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1173					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGCCTATCAGGAAACAGGCA	0.622000														20			16		0	0	0.000422831	0	0
ANKAR	150709	broad.mit.edu	37	2	190602435	190602435	+	Silent	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:190602435A>T	uc002uqw.2	+	17	3538	c.3450A>T	c.(3448-3450)gcA>gcT	p.A1150A	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Silent_p.A246A	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1150						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAGGCTATGCATTAACACTTT	0.308000														18			6		0	0	0.00116845	0	0
DMXL1	1657	broad.mit.edu	37	5	118484982	118484982	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:118484982C>T	uc010jcl.1	+	17	3641	c.3460C>T	c.(3460-3462)Ctg>Ttg	p.L1154L	DMXL1_uc003ksd.2_Silent_p.L1154L|DMXL1_uc021ycw.1_Silent_p.L981L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1154										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTCATATCCTGACTGTAGG	0.393000														107			26		0	0	0.000586117	0	0
NELL2	4753	broad.mit.edu	37	12	45105169	45105169	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:45105169G>A	uc010skz.1	-	11	1370	c.1245C>T	c.(1243-1245)acC>acT	p.T415T	NELL2_uc001rof.3_Silent_p.T364T|NELL2_uc001rog.2_Silent_p.T365T|NELL2_uc001roh.2_Silent_p.T365T|NELL2_uc009zkd.2_Silent_p.T364T|NELL2_uc010sla.1_Silent_p.T388T|NELL2_uc001roi.1_Silent_p.T365T|NELL2_uc010slb.1_Silent_p.T364T|NELL2_uc001roj.2_Silent_p.T365T	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	365	EGF-like 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.R414fs*3(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAAGTTTCATGGTCTGGTCCT	0.398000														29			22		0	0	0.00229938	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906626	13906626	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:13906626C>T	uc001rbt.2	-	2	814	c.635G>A	c.(634-636)gGa>gAa	p.G212E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	212					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)	CTTAGAATCTCCATCGTCCAG	0.473000														43			47		0	0	0.000781405	0	0
KCNT2	343450	broad.mit.edu	37	1	196395036	196395036	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:196395036C>T	uc001gtd.1	-	10	1127	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R356Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R356Q|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.R356Q|KCNT2_uc009wyv.1_Missense_Mutation_p.R331Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	356						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAGATAACTCGTTGGGACCA	0.413000														82			22		0	0	0.00229938	0	0
ALOX15B	247	broad.mit.edu	37	17	7943218	7943218	+	Splice_Site	SNP	A	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7943218A>T	uc002gju.3	+	3	484	c.368_splice	c.e3-2	p.A123_splice	ALOX15B_uc002gjv.3_Splice_Site_p.A123_splice|ALOX15B_uc002gjw.3_Splice_Site_p.A123_splice|ALOX15B_uc010vun.2_Splice_Site_p.A123_splice|ALOX15B_uc010cnp.3_Splice_Site	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	123	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTTCTCCCACAGCCAAGGTGT	0.617000														30			32		0	0	0.00128727	0	0
GPR115	221393	broad.mit.edu	37	6	47675986	47675986	+	Silent	SNP	A	G	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:47675986A>G	uc003oyz.1	+	3	291	c.291A>G	c.(289-291)gaA>gaG	p.E97E	GPR115_uc003oza.1_Silent_p.E40E|GPR115_uc003ozb.1_Silent_p.E40E	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	40					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAAGCCCTGAAGGGAAACCCA	0.448000														29			17		0	0	0.00152264	0	0
KRT16P3	644945	broad.mit.edu	37	17	20406445	20406445	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:20406445C>T	uc002gxb.3	-	2		c.794G>A								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		CTTCCATCTCCATCTCCAGGT	0.642000														9			15		0	0	0.000566183	0	0
TTBK2	146057	broad.mit.edu	37	15	43045198	43045198	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:43045198T>C	uc001zqo.2	-	13	2685	c.2246A>G	c.(2245-2247)aAc>aGc	p.N749S	TTBK2_uc010bcy.2_Missense_Mutation_p.N680S	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	749					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTGAGATTTGTTACTTTCTCT	0.428000														127			56		0	0	0.000781405	0	0
CSRNP2	81566	broad.mit.edu	37	12	51461553	51461553	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:51461553C>A	uc021qxx.1	-	3	1123	c.611G>T	c.(610-612)cGa>cTa	p.R204L	CSRNP2_uc001rxu.2_Missense_Mutation_p.R204L	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	204					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCGGATGGCTCGAAGTTCTTG	0.572000														54			21		3.62473e-10	1.46993e-09	0.00188189	1	0
C8B	732	broad.mit.edu	37	1	57417792	57417792	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:57417792C>T	uc001cyp.3	-	4	662	c.595G>A	c.(595-597)Gga>Aga	p.G199R	C8B_uc010oon.2_Missense_Mutation_p.G137R|C8B_uc010ooo.2_Missense_Mutation_p.G147R	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	199	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGGGAGCATCCACCTGCATAA	0.483000														49			68		0	0	0.000781405	0	0
U2AF2	11338	broad.mit.edu	37	19	56171916	56171916	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:56171916C>T	uc002qlu.3	+	3	1320	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	U2AF2_uc002qlt.3_Missense_Mutation_p.R89C	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	89					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GAAGAAGGTCCGTAAATACTG	0.637000														18			13		0	0	0.000308642	0	0
MYLK	4638	broad.mit.edu	37	3	123368037	123368037	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:123368037C>T	uc003ego.3	-	24	4575	c.4293G>A	c.(4291-4293)ccG>ccA	p.P1431P	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.P231P|MYLK_uc011bjw.2_Silent_p.P1431P|MYLK_uc003egp.3_Silent_p.P1362P|MYLK_uc003egq.3_Silent_p.P1431P|MYLK_uc003egr.3_Silent_p.P1362P|MYLK_uc003egs.3_Silent_p.P1255P	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1431	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCATCCTTCGGCTCTGGGG	0.612000														9			38		0	0	0.00170553	0	0
C9orf139	401563	broad.mit.edu	37	9	139929162	139929162	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:139929162C>T	uc004ckp.1	+	2	1743	c.229C>T	c.(229-231)Cct>Tct	p.P77S	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	77										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGTGACCCGGCCTCTGGTGCC	0.657000														49			12		0	0	0.000978159	0	0
FGD6	55785	broad.mit.edu	37	12	95486565	95486565	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:95486565C>T	uc001tdp.4	-	15	3881	c.3657G>A	c.(3655-3657)tgG>tgA	p.W1219*	FGD6_uc009zsx.3_Nonsense_Mutation_p.W352*|FGD6_uc001tdq.1_Nonsense_Mutation_p.W255*	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	1219					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TATCAGGAATCCAGATGGGAG	0.493000														31			12		0	0	0.00185496	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488460	84488460	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:84488460G>A	uc010chj.3	+	20	2106	c.2017G>A	c.(2017-2019)Ggg>Agg	p.G673R	ATP2C2_uc002fhx.3_Missense_Mutation_p.G673R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G690R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G522R	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	673					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						GGCCATGACTGGGGATGGGGT	0.622000														20			28		0	0	0.00058488	0	0
OBSCN	84033	broad.mit.edu	37	1	228401965	228401966	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:228401965_228401966CC>TT	uc009xez.1	+	3	1393_1394	c.1349_1350CC>TT	c.(1348-1350)ccc>cTT	p.P450L	OBSCN_uc001hsn.3_Missense_Mutation_p.P450L|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	450	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGTGGGCCCCGTCCACTGGC	0.693000														50			68		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179466211	179466211	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179466211C>T	uc021vsy.1	-	235	48034	c.47809G>A	c.(47809-47811)Gac>Aac	p.D15937N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D9632N|TTN_uc021vta.1_Missense_Mutation_p.D9565N|TTN_uc021vtb.1_Missense_Mutation_p.D9440N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16864	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D15937N(1)|p.D9440N(1)|p.D9632N(1)|p.D9565N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCATCGTCGTCTGGCATC	0.453000														94			26		0	0	0.00106085	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412659	20412659	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:20412659G>C	uc001bcx.3	+	7	1080	c.217G>C	c.(217-219)Ggc>Cgc	p.G73R	PLA2G5_uc001bcy.3_Missense_Mutation_p.G42R	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	42					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.G42S(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		GACAAACTACGGCTTCTACGG	0.567000														30			37		0	0	0.00195071	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604334	26604334	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:26604334G>A	uc002has.3	-	2	628	c.141C>T	c.(139-141)ctC>ctT	p.L47L						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		GTAGTTGGTGGAGAGGGTGGA	0.557000														22			27		0	0	0.000878237	0	0
PSG5	5673	broad.mit.edu	37	19	43680131	43680131	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:43680131C>T	uc002ovu.3	-	2	731	c.600G>A	c.(598-600)agG>agA	p.R200R	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.R200R	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	200	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAATGAGGATCCTGTTTTCAA	0.507000														119			36		0	0	0.000781405	0	0
RREB1	6239	broad.mit.edu	37	6	7230953	7230953	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:7230953C>T	uc003mxb.3	+	9	3113	c.2621C>T	c.(2620-2622)cCc>cTc	p.P874L	RREB1_uc021yky.1_Missense_Mutation_p.P874L|RREB1_uc003mxc.3_Missense_Mutation_p.P874L|RREB1_uc010jnx.3_Missense_Mutation_p.P874L|RREB1_uc021ykz.1_Missense_Mutation_p.P874L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	874					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACAGGGGCCCCACCCAGCCT	0.647000														20			29		0	0	0.00178596	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274328	103274328	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:103274328C>T	uc002tca.3	+	1	737	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	199						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.G198C(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCATTCGGCCTCAGCGACAT	0.488000														112			37		0	0	0.00170553	0	0
LNX1	84708	broad.mit.edu	37	4	54374252	54374252	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:54374252C>T	uc003hag.4	-	2	779	c.523G>A	c.(523-525)Gac>Aac	p.D175N	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D79N|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	175						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCAGGCTCGTCTGTCATTAAG	0.632000														26			13		0	0	0.00244969	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656001	40656001	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:40656001C>T	uc002rrx.3	-	0	1444	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	SLC8A1_uc002rry.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E474K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E474K|SLC8A1_uc010fan.1_Missense_Mutation_p.E474K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E474K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	474	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTCTGATTTCCTTCTGGGTA	0.408000														32			9		0	0	0.000274275	0	0
TULP1	7287	broad.mit.edu	37	6	35480623	35480623	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:35480623C>T	uc003okv.4	-	0	25	c.13G>A	c.(13-15)Gat>Aat	p.D5N	TULP1_uc003okw.4_Missense_Mutation_p.D5N|TULP1_uc021yyx.1_Missense_Mutation_p.D5N|TULP1_uc021yyy.1_Missense_Mutation_p.D5N	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	5					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGGTTTCATCCCGCAGAGGC	0.627000														45			25		0	0	0.00106085	0	0
POU2F2	5452	broad.mit.edu	37	19	42621408	42621408	+	Silent	SNP	T	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:42621408T>A	uc002osp.3	-	4	359	c.297A>T	c.(295-297)ctA>ctT	p.L99L	POU2F2_uc002osn.3_Silent_p.L99L|POU2F2_uc002osq.3_Silent_p.L99L|POU2F2_uc002osr.2_Silent_p.L99L	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	99					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TTACCCCAGCTAGCTGGCTGC	0.622000														71			15		0	0	0.000566183	0	0
UPK2	7379	broad.mit.edu	37	11	118828856	118828857	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:118828856_118828857GG>AA	uc001puh.3	+	4	521_522	c.468_469GG>AA	c.(466-471)atggtg>atAAtg	p.156_157MV>IM		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	156					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CAGGGGGCATGGTGGTCATCAC	0.624000														13			25		0	0	6.4e-05	0	0
KCNN4	3783	broad.mit.edu	37	19	44273133	44273133	+	Silent	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:44273133G>A	uc002oxl.3	-	6	1497	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	367					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TGTCCACCATGGAGTTCACTT	0.572000														51			52		0	0	0.000781405	0	0
MMP17	4326	broad.mit.edu	37	12	132325220	132325221	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:132325220_132325221CC>TT	uc001ujc.1	+	3	624_625	c.525_526CC>TT	c.(523-528)ttccac>ttTTac	p.H176Y	MMP17_uc001ujd.1_Missense_Mutation_p.H92Y	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	176					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCTGAACTTCCACGAGGTGGC	0.663000														57			17		0	0	6.4e-05	0	0
HEATR8	374977	broad.mit.edu	37	1	55167774	55167774	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:55167774C>T	uc010ooe.1	+	19	3621	c.3297C>T	c.(3295-3297)gtC>gtT	p.V1099V	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.V617V|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.V301V	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1099				V -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).		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						CACGAGAGGTCGTGCGCTCCT	0.612000														19			5		0	0	0.00198382	0	0
NDRG3	57446	broad.mit.edu	37	20	35282027	35282027	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:35282027G>A	uc002xfw.3	-	15	1166	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	NDRG3_uc002xfx.3_Missense_Mutation_p.P330S|NDRG3_uc010zvq.2_Missense_Mutation_p.P247S|NDRG3_uc010zvr.2_Missense_Mutation_p.P230S	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	342					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CGGCTGAAGGGACTTTCTCCA	0.562000														55			12		0	0	0.000308642	0	0
ANO2	57101	broad.mit.edu	37	12	5941659	5941659	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:5941659C>T	uc001qnm.2	-	4	804	c.732G>A	c.(730-732)atG>atA	p.M244I	ANO2_uc021qtt.1_Missense_Mutation_p.M248I	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	249						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGAGGTTTTTCATCTTGTTGT	0.502000														35			39		0	0	0.0025221	0	0
SOX8	30812	broad.mit.edu	37	16	1033854	1033854	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:1033854C>A	uc002ckn.3	+	1	664	c.549C>A	c.(547-549)caC>caA	p.H183Q	LMF1_uc002ckk.2_5'Flank|LMF1_uc002ckm.1_5'Flank	NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	183					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				AAGCCGGCCACAGCGACTCCG	0.677000														6			14		4.36969e-10	1.76981e-09	0.00185496	1	0
RASSF2	9770	broad.mit.edu	37	20	4768401	4768401	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:4768401C>T	uc002wld.3	-	9	746	c.692_splice	c.e9-1	p.E231_splice	RASSF2_uc002wlc.3_Intron|RASSF2_uc002wlf.3_Splice_Site_p.E231_splice	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	231	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TTCTGTTTCTCTGCAACCACA	0.532000														21			18		0	0	0.00121646	0	0
SOX30	11063	broad.mit.edu	37	5	157078445	157078445	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:157078445C>T	uc003lxb.1	-	0	984	c.642G>A	c.(640-642)acG>acA	p.T214T	SOX30_uc003lxc.1_Silent_p.T214T|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	214					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGGTTCCTCCGTTTTGATCA	0.637000														37			85		0	0	0.000781405	0	0
IQUB	154865	broad.mit.edu	37	7	123092855	123092855	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:123092855C>T	uc003vkn.3	-	12	2895	c.2318G>A	c.(2317-2319)tGg>tAg	p.W773*	IQUB_uc011kny.2_Nonsense_Mutation_p.W106*|IQUB_uc003vko.3_Nonsense_Mutation_p.W773*|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	773										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTGATACTTCCATCTGATCTC	0.393000														30			37		0	0	0.00148497	0	0
KCNA1	3736	broad.mit.edu	37	12	5021551	5021551	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:5021551G>A	uc001qnh.3	+	1	2112	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	KCNA1_uc021qts.1_Missense_Mutation_p.G336E	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	336					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.G336V(2)|p.I335I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCTTCATCGGGGTCATCCTG	0.552000														56			23		0	0	0.00188189	0	0
GHR	2690	broad.mit.edu	37	5	42718182	42718182	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:42718182C>T	uc021xxv.1	+	8	1062	c.925C>T	c.(925-927)Cca>Tca	p.P309S	GHR_uc003jmt.3_Missense_Mutation_p.P302S|GHR_uc003jmu.3_Missense_Mutation_p.P302S|GHR_uc003jmv.2_Missense_Mutation_p.P302S|GHR_uc021xxw.1_Missense_Mutation_p.P302S|GHR_uc021xxx.1_Missense_Mutation_p.P302S|GHR_uc021xxy.1_Missense_Mutation_p.P302S|GHR_uc021xxz.1_Missense_Mutation_p.P302S|GHR_uc021xya.1_Missense_Mutation_p.P302S|GHR_uc021xyb.1_Missense_Mutation_p.S293F|GHR_uc021xyc.1_Intron|GHR_uc011cpq.2_Missense_Mutation_p.P115S|GHR_uc021xyd.1_Missense_Mutation_p.P280S	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	302					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCCCCCAGTTCCAGTTCCAAA	0.318000														52			13		0	0	0.000566183	0	0
OBSCN	84033	broad.mit.edu	37	1	228475527	228475527	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:228475527C>T	uc009xez.1	+	35	9721	c.9677C>T	c.(9676-9678)cCa>cTa	p.P3226L	OBSCN_uc001hsn.3_Missense_Mutation_p.P3226L|OBSCN_uc001hsq.1_Missense_Mutation_p.P482L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3226	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCTGAGGCCAGGTGACAAA	0.637000														51			31		0	0	0.000814825	0	0
MUC16	94025	broad.mit.edu	37	19	8994416	8994416	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:8994416C>T	uc002mkp.3	-	64	41679	c.41475_splice	c.e64+1	p.L13825_splice	MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.L642_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13828	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGCTCTCACCAGGCCCTGA	0.562000														135			34		0	0	0.00111076	0	0
abParts	0	broad.mit.edu	37	22	23029786	23029786	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:23029786C>T	uc021wml.1	+	181		c.9731_splice	c.e181-2		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		ACATAAACCCCTCCCCCTCTA	0.522000														45			4		0	0	0.000157383	0	0
KL	9365	broad.mit.edu	37	13	33635153	33635153	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:33635153G>A	uc001uus.3	+	3	1945	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	646	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGAACCAAGGACTGCCGCGC	0.632000														54			32		0	0	0.00283554	0	0
EPHA7	2045	broad.mit.edu	37	6	94066482	94066482	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:94066482C>T	uc003poe.3	-	4	1518	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	EPHA7_uc003pof.3_Missense_Mutation_p.R426Q|EPHA7_uc011eac.2_Missense_Mutation_p.R426Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	426	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R426*(1)|p.R426R(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTCTGGGATCGGCTTAAGTC	0.418000														10			28		0	0	0.00209593	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29771574	29771574	+	RNA	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:29771574C>T	uc003tai.3	+	8		c.650C>T								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		ATGCTGTCTTCGCAGTGCCAT	0.398000														50			27		0	0	0.00106085	0	0
KIF22	3835	broad.mit.edu	37	16	29810978	29810978	+	Silent	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:29810978C>T	uc002dts.3	+	6	1043	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Silent_p.I272I|KIF22_uc010vdw.1_Silent_p.I272I	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	340					DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCCACAGTATCCTTATTGCCA	0.557000														9			19		0	0	0.00152264	0	0
ADAD2	161931	broad.mit.edu	37	16	84228155	84228155	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:84228155C>T	uc002fhq.2	+	2	856	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	ADAD2_uc002fhr.2_Missense_Mutation_p.L176F|AK123582_uc002fhs.1_Missense_Mutation_p.G70R	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	176					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCTCTCTGCCCTCTGCTACAT	0.647000														12			5		0	0	0.000602214	0	0
GJC1	10052	broad.mit.edu	37	17	42882944	42882944	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42882944A>C	uc002ihj.3	-	1	753	c.242T>G	c.(241-243)aTc>aGc	p.I81S	GJC1_uc002ihk.3_Missense_Mutation_p.I81S|GJC1_uc002ihl.3_Missense_Mutation_p.I81S|GJC1_uc021tyf.1_Missense_Mutation_p.I81S	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	81					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CACCAGGATGATCTGGAACAC	0.512000														73			25		0	0	0.00278032	0	0
MEGF6	1953	broad.mit.edu	37	1	3425693	3425693	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:3425693delC	uc001akl.3	-	11	1701	c.1474delG	c.(1474-1476)gccfs	p.A492fs	MEGF6_uc001akk.3_Frame_Shift_Del_p.A387fs	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	492						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCCTCATCGGCCCCGACGTCG	0.687													---	4	---	---	2	---					
KCNA10	3744	broad.mit.edu	37	1	111061179	111061180	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:111061179_111061180delCT	uc001dzt.1	-	0	618_619	c.230_231delAG	c.(229-231)gagfs	p.E77fs		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	77						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGACCACTGGCTCAGGCCCTGG	0.550													---	64	---	---	25	---					
MBD4	8930	broad.mit.edu	37	3	129155548	129155548	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:129155548delT	uc003emh.1	-	2	1115	c.939delA	c.(937-939)aaafs	p.K313fs	MBD4_uc003emi.1_Frame_Shift_Del_p.K313fs|MBD4_uc003emj.1_Frame_Shift_Del_p.K313fs|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Frame_Shift_Del_p.K313fs	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	313					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGATCTTTCTTTTTTTTTTA	0.373								Base excision repair (BER), DNA glycosylases					---	121	---	---	10	---					
HLA-J	3137	broad.mit.edu	37	6	29977389	29977393	+	Frame_Shift_Del	DEL	CTTCT	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:29977389_29977393delCTTCT	uc021yty.1	+	4	435_439	c.417_421delCTTCT	c.(415-423)gacttctctfs	p.D139fs	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Frame_Shift_Del_p.D136fs					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		AGAACCCTGACTTCTCTTTCTGCAA	0.488													---	41	---	---	11	---					
PILRB	29990	broad.mit.edu	37	7	99943553	99943553	+	RNA	DEL	T	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:99943553delT	uc022ail.1	+	3		c.346delT						Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 2, non-coding RNA.						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAGGGATTTTTTTTTTT	0.413													---	4	---	---	2	---					
MYBPC3	4607	broad.mit.edu	37	11	47357487	47357487	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:47357487delG	uc021qis.1	-	25	2733	c.2678delC	c.(2677-2679)ccafs	p.P893fs	MYBPC3_uc021qir.1_Frame_Shift_Del_p.P545fs|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	892	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACGCGCTCTGGGGGCCGCCA	0.667													---	4	---	---	2	---					
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:6711546delT	uc001qpo.3	-	2	382	c.218delA	c.(217-219)aagfs	p.K73fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.K73fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.K70fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	73					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468													---	334	---	---	9	---					
MLL2	8085	broad.mit.edu	37	12	49442494	49442494	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:49442494delA	uc001rta.4	-	12	4079	c.4079delT	c.(4078-4080)atgfs	p.M1360fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1360					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGTATTCTGCATGGTGTCATC	0.458			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	209	---	---	43	---					
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	-	-	rs11571510		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:3452223delT	uc002klz.3	+	0	633	c.246delT	c.(244-246)cctfs	p.P82fs	TGIF1_uc002klu.3_Intron|TGIF1_uc002klv.3_Intron|TGIF1_uc002klx.3_Intron|TGIF1_uc002klw.3_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.3_Intron|TGIF1_uc002kma.3_Intron|TGIF1_uc002kmb.3_5'Flank	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	82					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													---	4	---	---	9	---					
IRGQ	126298	broad.mit.edu	37	19	44096700	44096703	+	Frame_Shift_Del	DEL	GAGC	-	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:44096700_44096703delGAGC	uc002oww.2	-	1	1465_1468	c.1347_1350delGCTC	c.(1345-1350)gcgctcfs	p.A449fs	IRGQ_uc010eiv.2_Frame_Shift_Del_p.A449fs	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	449	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGGCTGGGGGGAGCGCTCGCCGCA	0.730													---	32	---	---	10	---					
