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
TTN	7273	broad.mit.edu	37	2	179436938	179436938	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:179436938C>A	uc021vsy.1	-	274	66442	c.66217G>T	c.(66217-66219)Gag>Tag	p.E22073*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.E15768*|TTN_uc021vta.1_Nonsense_Mutation_p.E15701*|TTN_uc021vtb.1_Nonsense_Mutation_p.E15576*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23000	Ig-like 115.						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)			CCATCATGCTCTGGTTTCTCC	0.483000														23			14		4.7546e-09	8.72765e-08	0.000422831	1	0
FGFBP2	83888	broad.mit.edu	37	4	15964237	15964237	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:15964237C>A	uc003gon.3	-	0	623	c.516G>T	c.(514-516)ctG>ctT	p.L172L	FGFBP2_uc021xmm.1_Silent_p.L172L	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.	172						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGGCTTTTCCCAGCTCTTCCA	0.587000														127			36		5.2432e-18	1.54194e-16	0.000781405	1	0
CHST9	83539	broad.mit.edu	37	18	24496499	24496499	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:24496499C>A	uc002kwd.3	-	4	1285	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.K352N|CHST9_uc021uij.1_Missense_Mutation_p.K267N	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	352					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GTTTGCTGACCTTTTCCCAGT	0.398000														62			39		2.47872e-24	9.1e-23	0.000509022	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217458	53217458	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:53217458G>T	uc001vgx.1	+	6	1904	c.831G>T	c.(829-831)aaG>aaT	p.K277N	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.K277N|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.K277N|HNRNPA1L2_uc021rjy.1_Missense_Mutation_p.K277N	NM_001011724	NP_001011725	Q32P51	RA1L2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1-like 2 (HNRNPA1L2), transcript variant 1, mRNA.	277	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA splicing|mRNA processing|mRNA transport	cytoplasm|spliceosomal complex	RNA binding|nucleotide binding			cervix(1)|large_intestine(1)|lung(5)	7						GACCCATGAAGGGAGGAAATT	0.448000														15			31		9.9998e-32	4.13006e-30	0.000589545	1	0
CELSR3	1951	broad.mit.edu	37	3	48697877	48697877	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:48697877G>T	uc003cuf.1	-	2	2401	c.2401C>A	c.(2401-2403)Cat>Aat	p.H801N	CELSR3_uc003cul.3_Missense_Mutation_p.H731N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	731	Cadherin 5.				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)		GGTGAGCCATGGTCTCGAGCC	0.552000														53			13		6.81908e-15	1.75701e-13	0.000219431	1	0
MRPS35	60488	broad.mit.edu	37	12	27863869	27863869	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:27863869G>T	uc001rih.3	+	0	164	c.93G>T	c.(91-93)ccG>ccT	p.P31P	MRPS35_uc001rii.3_Silent_p.P31P	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	31					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CGGCCACTCCGGTCCCGACAC	0.652000														12			11		6.40141e-05	0.000870623	6.40141e-05	1	0
CCNH	902	broad.mit.edu	37	5	86690864	86690864	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:86690864C>A	uc003kjb.3	-	7	1169	c.930G>T	c.(928-930)gaG>gaT	p.E310D	CCNH_uc003kiy.1_Non-coding_Transcript|CCNH_uc003kiz.1_Missense_Mutation_p.E257D|CCNH_uc003kja.3_Missense_Mutation_p.E257D	NM_001239	NP_001186118	P51946	CCNH_HUMAN	Homo sapiens cyclin H (CCNH), transcript variant 1, mRNA.	310	Poly-Glu.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AACATACCTCCTCATGTTTGG	0.343000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						164			51		1.4709e-25	5.545e-24	0.000781405	1	0
C3orf27	23434	broad.mit.edu	37	3	128292485	128292485	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:128292485G>T	uc021xdl.1	-	0	88	c.88C>A	c.(88-90)Cag>Aag	p.Q30K	C3orf27_uc003ekq.3_Missense_Mutation_p.Q30K	NM_007354	NP_031380	O15544	GR6_HUMAN	Homo sapiens chromosome 3 open reading frame 27 (C3orf27), mRNA.	30										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GGGGGTCCCTGGAGGCGGGAG	0.607000														18			10		2.27111e-07	3.67632e-06	0.00010058	1	0
MLH3	27030	broad.mit.edu	37	14	75514030	75514030	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:75514030C>A	uc001xrd.1	-	1	2545	c.2329G>T	c.(2329-2331)Gga>Tga	p.G777*	MLH3_uc001xre.1_Nonsense_Mutation_p.G777*|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	777					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTAGTGACTCCATTACTTTCC	0.403000								Mismatch excision repair (MMR)						65			39		1.57019e-19	4.92725e-18	0.000319135	1	0
NLRP3	114548	broad.mit.edu	37	1	247599359	247599359	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:247599359G>T	uc001icr.3	+	7	2724	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V	NLRP3_uc001ics.3_Intron|NLRP3_uc001icu.3_Silent_p.V862V|NLRP3_uc001icw.3_Silent_p.V805V|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Silent_p.V840V	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	862					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACTCTATGTGGGGGAGAATG	0.488000														73			30		7.72975e-29	3.03622e-27	0.000491102	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17981197	17981197	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:17981197C>A	uc001ban.3	+	22	2620	c.2461C>A	c.(2461-2463)Ctt>Att	p.L821I	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.L782I|ARHGEF10L_uc001bao.3_Missense_Mutation_p.L782I|ARHGEF10L_uc001bap.3_Missense_Mutation_p.L777I|ARHGEF10L_uc001baq.3_Missense_Mutation_p.L582I|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.L594I|ARHGEF10L_uc001bar.3_Missense_Mutation_p.L524I|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	821					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGCACCTCCCTTCCACAGGG	0.622000														69			40		5.44703e-19	1.66282e-17	0.000437636	1	0
MUC17	140453	broad.mit.edu	37	7	100687039	100687039	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:100687039C>A	uc003uxp.1	+	2	12395	c.12342C>A	c.(12340-12342)ccC>ccA	p.P4114P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4114						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGCTGTCCCCACGAATACTA	0.483000														26			19		2.4624e-09	4.59511e-08	0.000132079	1	0
ITGAX	3687	broad.mit.edu	37	16	31373991	31373991	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:31373991C>A	uc002ebt.3	+	11	1343	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	ITGAX_uc002ebu.1_Missense_Mutation_p.R426S|ITGAX_uc010vfk.1_Missense_Mutation_p.R76S	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	426					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R426fs*20(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCCCCCCGCTACCAGCA	0.657000														6			7		8.12818e-05	0.00108964	8.12818e-05	1	0
CGA	1081	broad.mit.edu	37	6	87796111	87796111	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:87796111G>T	uc003plj.2	-	2	272	c.130C>A	c.(130-132)Cag>Aag	p.Q44K	CGA_uc021zci.1_Missense_Mutation_p.Q75K	NM_000735	NP_000726	P01215	GLHA_HUMAN	Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA.	44					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		GCACCCGGCTGGGAGAAGAAT	0.448000														56			28		1.39806e-14	3.52147e-13	0.000227799	1	0
GALNTL2	117248	broad.mit.edu	37	3	16217075	16217075	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:16217075G>T	uc003car.4	+	0	892	c.417G>T	c.(415-417)gaG>gaT	p.E139D	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	139						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GGGCTGATGAGGACGGGGAGG	0.642000														19			11		7.03913e-09	1.27957e-07	0.00010058	1	0
ZNF300	91975	broad.mit.edu	37	5	150275222	150275222	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:150275222C>A	uc021yfx.1	-	6	2055	c.1627G>T	c.(1627-1629)Ggg>Tgg	p.G543W	ZNF300_uc021yfy.1_Missense_Mutation_p.G527W|ZNF300_uc021yfz.1_Missense_Mutation_p.G491W	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGCTTTCCCACATTCAGTA	0.433000														25			16		1.02788e-11	2.21212e-10	0.000566183	1	0
RASSF10	644943	broad.mit.edu	37	11	13032278	13032278	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:13032278G>T	uc021qdz.1	+	0	1309	c.1155G>T	c.(1153-1155)ctG>ctT	p.L385L		NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA.	385					signal transduction										Epithelial(150;0.00399)		AGCTGCTGCTGGAGCAGGAAC	0.662000														4			5		0.000602214	0.00760143	0.000602214	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147020327	147020327	+	Silent	SNP	T	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:147020327T>G	uc010jgo.1	-	7	1489	c.1341A>C	c.(1339-1341)tcA>tcC	p.S447S	JAKMIP2_uc003loq.1_Silent_p.S447S|JAKMIP2_uc011dbx.1_Silent_p.S405S|JAKMIP2_uc003lor.1_Silent_p.S447S|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	447						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCATGGATGATGTCTCTG	0.423000														29			17		0	0	0.000422831	0	0
CR1	1378	broad.mit.edu	37	1	207737337	207737337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:207737337C>T	uc001hfy.3	+	13	2505	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.R1239C|CR1_uc021pij.1_Missense_Mutation_p.R789C|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	789	Sushi 12.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCGTCTATGCGCTGCACACC	0.547000														78			17		0	0	0.000958276	0	0
PNMA3	29944	broad.mit.edu	37	X	152225667	152225667	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:152225667G>T	uc022cho.1	+	0	255	c.255G>T	c.(253-255)aaG>aaT	p.K85N	PNMA3_uc004fhc.2_Missense_Mutation_p.K85N|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					taccaggaaagggggggccct	0.532000														7			12		2.23348e-06	3.34546e-05	0.000422831	1	0
TET3	200424	broad.mit.edu	37	2	74275057	74275057	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:74275057C>A	uc002skb.4	+	0	1608	c.1608C>A	c.(1606-1608)ccC>ccA	p.P536P	TET3_uc010fez.2_Silent_p.P536P	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	536							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCTAGTCCCTCCAGGGACA	0.647000														7			9		0.000274275	0.00353349	0.000274275	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603046	138603046	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:138603046C>A	uc011kql.2	-	1	1375	c.1326G>T	c.(1324-1326)gtG>gtT	p.V442V	KIAA1549_uc011kqj.2_Silent_p.V442V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	442						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCCCTGATCCCACGTCTTTCT	0.547000			O	BRAF	pilocytic astrocytoma									51			22		4.26978e-12	9.36849e-11	0.00047179	1	0
EIF3B	8662	broad.mit.edu	37	7	2418774	2418774	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:2418774G>T	uc003slx.3	+	16	2321	c.2238G>T	c.(2236-2238)ttG>ttT	p.L746F	EIF3B_uc003sly.3_Missense_Mutation_p.L746F|EIF3B_uc003sma.3_Missense_Mutation_p.L474F|EIF3B_uc003smb.3_Non-coding_Transcript	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	746					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATAGGAATTGGTGGAGAGAA	0.557000														14			7		2.52707e-12	5.63275e-11	0.000442599	1	0
GPR98	84059	broad.mit.edu	37	5	89933721	89933721	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:89933721T>G	uc003kju.3	+	10	2292	c.2196T>G	c.(2194-2196)gaT>gaG	p.D732E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	732	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAAGGTGATGACATACCGG	0.363000														39			15		0	0	0.00074312	0	0
KIAA1653	0	broad.mit.edu	37	22	20294137	20294137	+	RNA	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:20294137G>A	uc002zrw.1	+	0		c.2577G>A								Homo sapiens mRNA for KIAA1653 protein, partial cds.																		GACTCATGCAGAAGAGGGCAC	0.627000														11			24		0	0	0.000295444	0	0
OR51B5	282763	broad.mit.edu	37	11	5364502	5364502	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:5364502G>A	uc001map.1	-	0	253	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.L85L	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTGATCCAGCCAGAGGACT	0.557000														11			19		0	0	0.00074312	0	0
BCAR1	9564	broad.mit.edu	37	16	75268985	75268985	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:75268985G>T	uc002fdv.3	-	4	1958	c.1812C>A	c.(1810-1812)ctC>ctA	p.L604L	BCAR1_uc002fdt.3_Silent_p.L57L|BCAR1_uc002fdu.3_Silent_p.L394L|BCAR1_uc010vna.2_Silent_p.L602L|BCAR1_uc010cgu.3_Silent_p.L622L|BCAR1_uc010vnb.2_Silent_p.L650L|BCAR1_uc002fdw.3_Silent_p.L604L|BCAR1_uc010vnc.2_Silent_p.L456L|BCAR1_uc010vnd.2_Silent_p.L622L|BCAR1_uc002fdx.3_Silent_p.L622L	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	604	Ser-rich.				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCGTCTGAAGAGCAGTGAGG	0.687000														18			10		1.61879e-10	3.29448e-09	0.00010058	1	0
ZNF425	155054	broad.mit.edu	37	7	148801090	148801090	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:148801090G>T	uc003wfj.3	-	3	2006	c.1873C>A	c.(1873-1875)Ctg>Atg	p.L625M		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	625					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGCTTTTCAGGTTTCCCTTG	0.537000														90			21		1.87028e-06	2.83164e-05	0.000229342	1	0
SI	6476	broad.mit.edu	37	3	164737442	164737442	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:164737442C>A	uc003fei.3	-	27	3434	c.3371G>T	c.(3370-3372)cGa>cTa	p.R1124L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1124	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1124*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCAGATCTCGCTTAAATGC	0.438000										HNSCC(35;0.089)				34			26		1.16021e-09	2.23181e-08	0.000184323	1	0
ISX	91464	broad.mit.edu	37	22	35481452	35481452	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:35481452C>A	uc003anj.3	+	3	1455	c.504C>A	c.(502-504)ccC>ccA	p.P168P		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	168						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GACAGGGGCCCACGTGGACAT	0.597000														163			20		9.62636e-23	3.33773e-21	0.000295444	1	0
TAS2R39	259285	broad.mit.edu	37	7	142881285	142881285	+	Missense_Mutation	SNP	G	T	T	rs4103817		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:142881285G>T	uc011ksw.2	+	0	774	c.774G>T	c.(772-774)atG>atT	p.M258I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	258					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.H257Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGCTCACATGGGGGCCATCA	0.493000														50			36		2.05212e-20	6.7016e-19	0.000191422	1	0
KLRC2	3822	broad.mit.edu	37	12	10587105	10587105	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:10587105G>T	uc001qyh.3	-	2	318	c.311C>A	c.(310-312)cCg>cAg	p.P104Q	KLRC2_uc010she.1_Missense_Mutation_p.P104Q|KLRC2_uc001qyk.2_Missense_Mutation_p.P104Q	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	104					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TCTTGTATTCGGGGAAAAATT	0.279000														67			23		1.75199e-13	4.16987e-12	0.000184323	1	0
GGT7	2686	broad.mit.edu	37	20	33442705	33442705	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:33442705G>T	uc002xay.3	-	8	1167	c.1124C>A	c.(1123-1125)cCa>cAa	p.P375Q	GGT7_uc002xaz.1_Missense_Mutation_p.P392Q	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	375					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GTGCGGAGGTGGGGGACTAAG	0.582000														21			13		4.3838e-07	6.95588e-06	0.000151284	1	0
TBX15	6913	broad.mit.edu	37	1	119427633	119427633	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:119427633G>T	uc001ehl.1	-	7	1528	c.1213C>A	c.(1213-1215)Ctt>Att	p.L405I	TBX15_uc009whj.1_Missense_Mutation_p.L229I	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	511						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGTTGTGAAGGGAGAAGGCA	0.532000														13			4		1.024e-07	1.71696e-06	0.000602214	1	0
CDO1	1036	broad.mit.edu	37	5	115152014	115152014	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:115152014C>A	uc003krg.3	-	0	392	c.81G>T	c.(79-81)gaG>gaT	p.E27D		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	27					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CTACATTGACCTCATCGCCGG	0.607000														84			57		9.77497e-20	3.10203e-18	0.000781405	1	0
FOXA3	3171	broad.mit.edu	37	19	46376171	46376171	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:46376171C>A	uc002pdr.3	+	1	1105	c.908C>A	c.(907-909)cCt>cAt	p.P303H		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	303					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TTCAACCACCCTTTCTCCATC	0.597000														25			15		1.15088e-07	1.8902e-06	0.000422831	1	0
NLRP2	55655	broad.mit.edu	37	19	55494486	55494486	+	Missense_Mutation	SNP	G	T	T	rs149186407		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:55494486G>T	uc021vbq.1	+	5	1531	c.1420G>T	c.(1420-1422)Ggg>Tgg	p.G474W	NLRP2_uc010yfp.2_Missense_Mutation_p.G451W|NLRP2_uc002qij.3_Missense_Mutation_p.G474W|NLRP2_uc010esp.3_Missense_Mutation_p.G452W|NLRP2_uc010esn.3_Missense_Mutation_p.G450W|NLRP2_uc010eso.3_Missense_Mutation_p.G471W	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	474	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGAAAGGCTCGGGGTGCAGGA	0.662000														45			26		5.45727e-16	1.46667e-14	0.000227799	1	0
CREBBP	1387	broad.mit.edu	37	16	3778993	3778993	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:3778993C>A	uc002cvv.3	-	30	6259	c.6055G>T	c.(6055-6057)Ggg>Tgg	p.G2019W	CREBBP_uc002cvw.3_Missense_Mutation_p.G1981W	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2019					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCCACTGCCCGGGAGGCATG	0.726000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							5			5		8.12818e-05	0.00108964	8.12818e-05	1	0
CACNA1E	777	broad.mit.edu	37	1	181708321	181708321	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:181708321C>T	uc009wxt.3	+	24	3846	c.3651C>T	c.(3649-3651)taC>taT	p.Y1217Y	CACNA1E_uc001gow.3_Silent_p.Y1217Y|CACNA1E_uc009wxs.3_Silent_p.Y1198Y|CACNA1E_uc001gox.1_Silent_p.Y443Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1217					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						ATGGGTCCTACTTCCGAGACT	0.502000														206			73		0	0	0.000781405	0	0
SLC30A9	10463	broad.mit.edu	37	4	42003751	42003751	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:42003751G>T	uc003gwl.3	+	1	374	c.228G>T	c.(226-228)caG>caT	p.Q76H	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	76					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGAAGGACAGGGATCACAAA	0.353000														42			10		0.000673444	0.00844361	0.000673444	1	0
GAD2	2572	broad.mit.edu	37	10	26508003	26508003	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:26508003C>A	uc001isp.2	+	3	821	c.318C>A	c.(316-318)ccC>ccA	p.P106P	GAD2_uc009xkr.3_Silent_p.P106P|GAD2_uc001isq.2_Silent_p.P106P	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	106					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAGAAAGGCCCACTTTGGCGT	0.358000														39			27		1.75199e-13	4.16987e-12	0.000184323	1	0
LILRA1	11024	broad.mit.edu	37	19	55086037	55086037	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:55086037C>A	uc010ern.3	+	3	809	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	LILRA1_uc002qgg.4_Missense_Mutation_p.L114M|LILRA1_uc002qgf.3_Missense_Mutation_p.L114M|LILRA1_uc010yfe.1_Missense_Mutation_p.L114M|LILRA1_uc010yff.1_Missense_Mutation_p.L102M|LILRA1_uc010ero.3_Missense_Mutation_p.L102M|LILRA1_uc010yfg.1_Missense_Mutation_p.L114M			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	116	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.P113S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCCCTGGAGCTGGTGGTGAC	0.602000														33			6		1.26484e-09	2.41654e-08	0.000157383	1	0
PPIAL4G	644591	broad.mit.edu	37	1	143767477	143767477	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:143767477G>T	uc001ejt.3	-	0	405	c.372C>A	c.(370-372)ggC>ggA	p.G124G		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	124	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CCACATGCTTGCCATCCAACC	0.483000														490			46		9.53615e-21	3.15086e-19	0.000781405	1	0
RNF20	56254	broad.mit.edu	37	9	104314989	104314989	+	Missense_Mutation	SNP	C	T	T	rs139776458	byFrequency	TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:104314989C>T	uc004bbn.3	+	12	1945	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	619					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGATGATGGACGGAAAAAGGA	0.368000														25			27		0	0	0.000227799	0	0
DNTT	1791	broad.mit.edu	37	10	98092351	98092351	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:98092351C>A	uc001kmf.3	+	8	1527	c.1357C>A	c.(1357-1359)Cgg>Agg	p.R453R	DNTT_uc001kmg.3_Silent_p.R453R	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	453	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GACTGGCTCCCGGGTAAGTGC	0.582000														65			28		3.90053e-15	1.01904e-13	0.000409698	1	0
KPRP	448834	broad.mit.edu	37	1	152732929	152732929	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:152732929G>T	uc001fal.1	+	1	923	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	KPRP_uc021ozf.1_Nonsense_Mutation_p.E289*	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	289	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCCTCTGAAGGTTTCCC	0.597000														61			19		9.7654e-05	0.00130601	0.000958276	1	0
NUP205	23165	broad.mit.edu	37	7	135302386	135302386	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:135302386C>A	uc003vsw.3	+	26	3758	c.3727C>A	c.(3727-3729)Ctt>Att	p.L1243I		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1243					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTAAATGCCCTTCAGGGTAT	0.398000														30			18		3.5997e-14	8.79109e-13	0.000295444	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694036	84694036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:84694036G>A	uc002bjz.4	+	26	4728	c.4504G>A	c.(4504-4506)Gga>Aga	p.G1502R	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1502R	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1502	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGCGGTGAAGGATACCACAG	0.522000														27			13		0	0	0.000958276	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419910	19419910	+	RNA	SNP	A	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:19419910A>C	uc010tcj.1	-	0		c.26200T>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CACTTCTTTCACGTCTTTGTT	0.328000														63			37		0	0	0.000437636	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810285	167810285	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:167810285C>A	uc011cjq.1	-	4	678	c.621G>T	c.(619-621)aaG>aaT	p.K207N	SPOCK3_uc021xuf.1_Missense_Mutation_p.K198N|SPOCK3_uc011cjr.1_Missense_Mutation_p.K78N|SPOCK3_uc003iri.1_Missense_Mutation_p.K198N|SPOCK3_uc011cjs.1_Missense_Mutation_p.K147N|SPOCK3_uc003irj.1_Missense_Mutation_p.K195N|SPOCK3_uc011cjt.1_Missense_Mutation_p.K106N|SPOCK3_uc011cjp.2_Missense_Mutation_p.K195N|SPOCK3_uc011cju.1_Missense_Mutation_p.K102N|SPOCK3_uc011cjv.1_Missense_Mutation_p.K100N|SPOCK3_uc003irk.4_Missense_Mutation_p.K195N|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ACTTACCTCTCTTAACATTTC	0.333000														34			34		8.73648e-17	2.44143e-15	0.000814825	1	0
MYCL1	4610	broad.mit.edu	37	1	40363545	40363545	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:40363545G>T	uc001cer.2	-	2	811	c.684C>A	c.(682-684)ccC>ccA	p.P228P	MYCL1_uc001ces.2_Silent_p.P198P	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCTTCATGCAGGGATCCAGGG	0.522000			A		small cell lung									44			30		5.60225e-13	1.28967e-11	0.000279167	1	0
HTR1B	3351	broad.mit.edu	37	6	78172118	78172118	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:78172118G>T	uc003pil.1	-	0	1003	c.1003C>A	c.(1003-1005)Cta>Ata	p.L335I		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	335					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGCATCACTAGGGAGATGATG	0.498000														56			13		3.27435e-08	5.64173e-07	0.000219431	1	0
ZZEF1	23140	broad.mit.edu	37	17	3947527	3947527	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:3947527C>A	uc002fxe.3	-	37	6221	c.6157G>T	c.(6157-6159)Gga>Tga	p.G2053*	ZZEF1_uc002fxh.3_Nonsense_Mutation_p.G367*|ZZEF1_uc002fxi.3_Nonsense_Mutation_p.G288*|ZZEF1_uc002fxj.1_Nonsense_Mutation_p.G666*	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2053							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCTGGAAGTCCTGTAGGTGGG	0.423000														11			28		3.03874e-20	9.80954e-19	0.00058488	1	0
COL11A2	1302	broad.mit.edu	37	6	33145910	33145910	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:33145910G>T	uc003ocx.1	-	21	2100	c.1872_splice	c.e21+1	p.P624_splice	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Splice_Site_p.P538_splice|COL11A2_uc003ocz.1_Splice_Site_p.P517_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	624	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCACTTACAGGGGGTCCAGG	0.577000														22			28		1.08312e-15	2.86976e-14	0.000279167	1	0
USHBP1	83878	broad.mit.edu	37	19	17373625	17373625	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:17373625C>T	uc002nfs.1	-	3	491	c.378G>A	c.(376-378)ctG>ctA	p.L126L	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.L62L|USHBP1_uc010eam.1_Silent_p.L54L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	126							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGGGAGCTCAGAGTGTGCT	0.652000														25			20		0	0	0.000132079	0	0
FURIN	5045	broad.mit.edu	37	15	91420142	91420142	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:91420142G>T	uc002bpu.1	+	4	605	c.389G>T	c.(388-390)cGg>cTg	p.R130L		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	130					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTCACTCAGCGGGACCTGAAT	0.567000														258			10		0.000673444	0.00844361	0.000673444	1	0
SPOCK1	6695	broad.mit.edu	37	5	136328235	136328235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:136328235C>T	uc003lbo.3	-	5	835	c.644G>A	c.(643-645)gGa>gAa	p.G215E	SPOCK1_uc003lbp.3_Missense_Mutation_p.G215E	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	215					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGAGAGCTCCAAACCAATC	0.498000														40			25		0	0	0.000878237	0	0
GALNTL2	117248	broad.mit.edu	37	3	16254193	16254193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:16254193C>T	uc003car.4	+	5	1790	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	GALNTL2_uc003caq.4_Missense_Mutation_p.R172C	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	439						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R439C(2)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GAACAGGGTTCGCATTGCTGA	0.547000														48			46		0	0	0.000781405	0	0
FDXACB1	91893	broad.mit.edu	37	11	111749829	111749829	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:111749829C>A	uc001pmc.4	-	0	353	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	ALG9_uc010rwo.2_5'UTR|FDXACB1_uc009yyi.3_5'UTR|C11orf1_uc001pmd.3_5'Flank|C11orf1_uc001pme.3_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	10					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TTCCCCTCCCCAACCAACAGG	0.642000											OREG0010943|OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model		22			6		1.06961e-07	1.78279e-06	0.000157383	1	0
CMYA5	202333	broad.mit.edu	37	5	79030367	79030367	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:79030367G>T	uc003kgc.3	+	1	5851	c.5779G>T	c.(5779-5781)Ggg>Tgg	p.G1927W		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1927						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCTGAGGCCAGGGCAGCTCAA	0.498000														35			16		1.15088e-07	1.8902e-06	0.000422831	1	0
KRT6B	3854	broad.mit.edu	37	12	52845496	52845496	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52845496C>A	uc001sak.3	-	0	415	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	123	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCAGGGCCCCCAAAGCCACCA	0.622000														26			6		2.0095e-06	3.03423e-05	8.12818e-05	1	0
KRT85	3891	broad.mit.edu	37	12	52756730	52756730	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52756730C>A	uc001sag.3	-	5	1105	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	329	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGTCTCCCCATGCCTGATC	0.597000														21			18		8.34094e-07	1.28712e-05	0.000132079	1	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														18			4		0	0	0.000602214	0	0
SLIT3	6586	broad.mit.edu	37	5	168180101	168180101	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:168180101A>C	uc010jjg.3	-	17	2252	c.1832T>G	c.(1831-1833)aTg>aGg	p.M611R	SLIT3_uc003mab.3_Missense_Mutation_p.M611R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	611					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCCTCAGCATCCTACAGGG	0.527000														12			4		0	0	3.59834e-05	0	0
CWH43	80157	broad.mit.edu	37	4	49030677	49030677	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:49030677G>T	uc003gyv.3	+	9	1480	c.1298G>T	c.(1297-1299)tGg>tTg	p.W433L	CWH43_uc011bzl.2_Missense_Mutation_p.W406L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	433					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGCCATCTGGCCTTTCAGG	0.443000														64			21		3.7963e-18	1.12231e-16	0.00047179	1	0
ROS1	6098	broad.mit.edu	37	6	117609814	117609814	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:117609814C>A	uc003pxp.1	-	42	7084	c.6885G>T	c.(6883-6885)caG>caT	p.Q2295H	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2295					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCAGATTCCTGGGAGCCTA	0.453000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									15			33		4.92203e-23	1.76096e-21	0.000228196	1	0
MOXD1	26002	broad.mit.edu	37	6	132649618	132649618	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:132649618G>T	uc003qdf.3	-	4	878	c.779C>A	c.(778-780)cCc>cAc	p.P260H	MOXD1_uc003qde.3_Missense_Mutation_p.P192H	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	260					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGGCATGTTGGGGTGATAGCA	0.502000														4			9		2.17888e-05	0.000304447	0.000442599	1	0
PCK2	5106	broad.mit.edu	37	14	24568320	24568320	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:24568320C>A	uc001wlt.3	+	4	859	c.727C>A	c.(727-729)Cag>Aag	p.Q243K	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.Q243K|PCK2_uc010tnw.2_Missense_Mutation_p.Q109K|PCK2_uc010ald.2_Missense_Mutation_p.Q95K|PCK2_uc010ale.2_Intron|PCK2_uc010tnx.2_Missense_Mutation_p.Q109K|PCK2_uc001wlu.4_Missense_Mutation_p.Q109K	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	243					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CGTGCCCGACCAGCGGGAGAT	0.642000														36			10		2.74318e-10	5.50301e-09	0.000442599	1	0
ANK3	288	broad.mit.edu	37	10	61834852	61834852	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:61834852G>T	uc001jky.3	-	36	6125	c.5787C>A	c.(5785-5787)ttC>ttA	p.F1929L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1929					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTCAGGTTGGAATGGCTTCT	0.408000														26			14		3.27435e-08	5.64173e-07	0.000219431	1	0
NR4A1	3164	broad.mit.edu	37	12	52448610	52448610	+	Silent	SNP	T	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52448610T>G	uc001rzs.3	+	2	817	c.498T>G	c.(496-498)acT>acG	p.T166T	NR4A1_uc010sno.2_Silent_p.T179T|NR4A1_uc001rzr.2_Silent_p.T166T|NR4A1_uc009zmb.2_Silent_p.T166T|NR4A1_uc001rzt.3_Silent_p.T166T|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	166					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCAGCCAGACTTACGAAGGCC	0.692000														20			19		0	0	0.000132079	0	0
CRISP3	10321	broad.mit.edu	37	6	49701443	49701443	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:49701443G>T	uc021zai.1	-	4	553	c.465C>A	c.(463-465)ccC>ccA	p.P155P	CRISP3_uc003ozs.3_Silent_p.P145P	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	132					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCACTGCGTTGGGAGTCTTTG	0.403000														34			37		1.03484e-13	2.48405e-12	0.000191422	1	0
PTGIS	5740	broad.mit.edu	37	20	48124461	48124461	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:48124461G>T	uc002xut.3	-	9	1553	c.1499C>A	c.(1498-1500)cCa>cAa	p.P500Q	PTGIS_uc010zyi.2_Missense_Mutation_p.P361Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	500			P -> S (in dbSNP:rs5584).		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CCTGTGTCATGGGCGGATGCG	0.637000														28			22		1.88708e-17	5.38058e-16	0.000227799	1	0
NPAS4	266743	broad.mit.edu	37	11	66189596	66189596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:66189596C>T	uc001ohx.1	+	1	357	c.181C>T	c.(181-183)Cct>Tct	p.P61S	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	61					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TACAGGCACTCCTCTGGCGGG	0.567000														21			11		0	0	0.000219431	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42362987	42362987	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:42362987G>T	uc001zox.3	-	17	2066	c.1971C>A	c.(1969-1971)ccC>ccA	p.P657P		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	657	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGAACATGGAGGGAGAGCTGG	0.642000														6			6		8.12818e-05	0.00108964	8.12818e-05	1	0
NUP210	23225	broad.mit.edu	37	3	13420462	13420462	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:13420462G>T	uc003bxv.1	-	7	1078	c.995C>A	c.(994-996)gCt>gAt	p.A332D	NUP210_uc003bxx.3_Missense_Mutation_p.A4D	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	332					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAACCTAGAAGCACCTTGCAT	0.498000														51			39		1.48734e-19	4.69347e-18	0.000680045	1	0
OR5M10	390167	broad.mit.edu	37	11	56344874	56344874	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:56344874C>A	uc001niz.1	-	0	324	c.324G>T	c.(322-324)gtG>gtT	p.V108V	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTCAGTGATCACTAGGGCGA	0.443000														46			27		2.41591e-17	6.81918e-16	0.000720815	1	0
SNRPA	6626	broad.mit.edu	37	19	41269491	41269491	+	Splice_Site	SNP	G	A	A	rs112988221		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:41269491G>A	uc002ooz.3	+	5	1156	c.601_splice	c.e5-1	p.L201_splice		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	201	Pro-rich.					nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TACCCCCGCAGCTTTCTGAGA	0.542000														47			8		0	0	0.000442599	0	0
CRTC1	23373	broad.mit.edu	37	19	18885745	18885745	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:18885745G>A	uc010ebv.3	+	12	1597	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	CRTC1_uc002nkb.4_Silent_p.A487A|CRTC1_uc010ebw.3_Intron	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	487					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TTGGGGACGCGTACTATGAGC	0.672000														41			9		0	0	0.000151284	0	0
KRT6A	3853	broad.mit.edu	37	12	52883769	52883769	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52883769C>A	uc001sam.3	-	5	1370	c.1161G>T	c.(1159-1161)atG>atT	p.M387I		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	387	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTCTGGATCATGCGGTTGA	0.567000														24			5		8.12818e-05	0.00108964	8.12818e-05	1	0
PION	54103	broad.mit.edu	37	7	77010642	77010642	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:77010642G>T	uc003ugf.3	-	7	635	c.556C>A	c.(556-558)Caa>Aaa	p.Q186K	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	186					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCATCTTCTTGGGCGACATGG	0.299000														37			12		7.03913e-09	1.27957e-07	0.00010058	1	0
TRIM69	140691	broad.mit.edu	37	15	45050916	45050916	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:45050916G>T	uc001zuf.2	+	4	1572	c.677G>T	c.(676-678)cGg>cTg	p.R226L	TRIM69_uc001zug.1_Missense_Mutation_p.R226L|TRIM69_uc001zuh.1_Missense_Mutation_p.R67L|TRIM69_uc001zui.1_Missense_Mutation_p.R22L|TRIM69_uc010bdy.1_Missense_Mutation_p.R22L	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	226					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		ACTGAGCTCCGGGAAGAGGGG	0.468000														31			20		5.35267e-07	8.46928e-06	0.000958276	1	0
AKNA	80709	broad.mit.edu	37	9	117122051	117122051	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:117122051G>T	uc004biq.3	-	9	2450	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	AKNA_uc004bin.3_Missense_Mutation_p.P19Q|AKNA_uc004bio.3_Missense_Mutation_p.P232Q|AKNA_uc004bip.3_Missense_Mutation_p.P691Q|AKNA_uc004bir.3_Missense_Mutation_p.P772Q|AKNA_uc004bis.3_Missense_Mutation_p.P772Q|AKNA_uc010mve.2_Missense_Mutation_p.P653Q|AKNA_uc004biu.1_Missense_Mutation_p.P513Q|AKNA_uc004biv.1_Missense_Mutation_p.P772Q	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	772	PEST.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CATGGCTTCTGGGAGAGACTT	0.592000														9			6		5.9392e-07	9.34467e-06	3.59834e-05	1	0
APOA5	116519	broad.mit.edu	37	11	116661594	116661594	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:116661594C>A	uc009yzg.3	-	1	861	c.429G>T	c.(427-429)ctG>ctT	p.L143L	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Silent_p.L117L|APOA5_uc009yzf.3_Silent_p.L117L			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	117					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TCCAGCCCACCAGCTCGTGCG	0.657000														138			86		2.5963e-48	1.19536e-46	0.000781405	1	0
PRR23C	389152	broad.mit.edu	37	3	138762971	138762971	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:138762971C>T	uc011bmt.1	-	0	764	c.492G>A	c.(490-492)ccG>ccA	p.P164P		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	164										breast(2)|lung(7)|skin(2)	11						TCCAGAGCTCCGGGAACTCAG	0.657000														4			4		0	0	0.000602214	0	0
TRNAU1AP	54952	broad.mit.edu	37	1	28887878	28887878	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:28887878C>A	uc001bqi.3	+	3	340	c.246C>A	c.(244-246)aaC>aaA	p.N82K	TRNAU1AP_uc001bqh.3_5'UTR|TRNAU1AP_uc010ofw.2_5'UTR	NM_017846	NP_060316	Q9NX07	TSAP1_HUMAN	Homo sapiens tRNA selenocysteine 1 associated protein 1 (TRNAU1AP), transcript variant 1, mRNA.	82	RRM 1.				selenocysteine incorporation	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TTAAACTGAACTATGCCACTT	0.378000														19			11		2.32078e-09	4.35982e-08	0.000308642	1	0
ODZ4	26011	broad.mit.edu	37	11	78369483	78369483	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:78369483C>A	uc001ozl.4	-	33	8393	c.7930G>T	c.(7930-7932)Ggg>Tgg	p.G2644W	ODZ4_uc001ozk.4_Missense_Mutation_p.G869W	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2644					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ACGTTGACCCCATTCTCCAGG	0.552000														15			9		4.68919e-08	7.98157e-07	0.000673444	1	0
CCKBR	887	broad.mit.edu	37	11	6292680	6292680	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:6292680C>A	uc001mcp.3	+	4	1506	c.1251C>A	c.(1249-1251)ccC>ccA	p.P417P	CCKBR_uc001mcq.3_Silent_p.P345P|CCKBR_uc001mcr.3_Silent_p.P400P|CCKBR_uc001mcs.3_Silent_p.P486P	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	417					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCTCGCCCCAGGGCTCTTC	0.642000														36			6		8.12818e-05	0.00108964	8.12818e-05	1	0
HNRNPA3	220988	broad.mit.edu	37	2	178080308	178080308	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:178080308T>A	uc002ulb.1	+	1	220	c.114T>A	c.(112-114)ttT>ttA	p.F38L	HNRNPA3_uc002ulc.1_Missense_Mutation_p.F38L|HNRNPA3_uc002uld.2_Missense_Mutation_p.F16L|HNRNPA3_uc002ule.3_5'Flank	NM_194247	NP_919223	P51991	ROA3_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A3 (HNRNPA3), mRNA.	38	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GAAAACTGTTTATTGGTGGTC	0.393000														26			21		0	0	0.000295444	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388613	46388613	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:46388613C>A	uc002pds.1	-	0	764	c.420G>T	c.(418-420)ctG>ctT	p.L140L		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCTCACGGCCCAGCCCATTGG	0.711000														11			9		1.12685e-05	0.000161057	0.000274275	1	0
NLRP14	338323	broad.mit.edu	37	11	7065065	7065065	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:7065065C>A	uc001mfb.1	+	3	2131	c.1808C>A	c.(1807-1809)cCa>cAa	p.P603Q		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	603					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGATGTTTCCCAAAGGTTGCC	0.418000														74			30		1.74807e-11	3.67749e-10	0.000339439	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77397761	77397761	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:77397761C>A	uc002ffc.4	-	5	1413	c.994G>T	c.(994-996)Ggg>Tgg	p.G332W	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G28W|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	332	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCAATAGTCCCATCTTTAAAT	0.373000														28			15		1.02788e-11	2.21212e-10	0.000566183	1	0
SLC25A34	284723	broad.mit.edu	37	1	16065769	16065769	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:16065769G>T	uc001axb.1	+	4	955	c.783G>T	c.(781-783)caG>caT	p.Q261H		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	261					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCGGCAGGAGGGCCCCC	0.652000														24			11		1.58986e-06	2.4267e-05	0.000673444	1	0
BTBD8	284697	broad.mit.edu	37	1	92612820	92612820	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:92612820C>A	uc001doo.3	+	7	1281	c.1014C>A	c.(1012-1014)tgC>tgA	p.C338*	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	338						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTGCTGACTGCATGAAGTAAG	0.353000														49			25		2.79863e-10	5.59428e-09	0.000720815	1	0
NOMO1	23420	broad.mit.edu	37	16	14970250	14970250	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:14970250G>T	uc002dcv.3	+	20	2457	c.2391G>T	c.(2389-2391)ggG>ggT	p.G797G	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	797						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AGATCCATGGGAAGGCAGGCC	0.522000														53			34		9.62906e-15	2.44735e-13	0.000228196	1	0
SUPT6H	6830	broad.mit.edu	37	17	27027482	27027482	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:27027482C>A	uc010crt.3	+	35	4950	c.4758C>A	c.(4756-4758)tcC>tcA	p.S1586S	SUPT6H_uc002hby.3_Silent_p.S1586S	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1586					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGTGGGCCTCCAGCCAGTACG	0.612000														62			26		4.11147e-35	1.74955e-33	0.000692331	1	0
LRP6	4040	broad.mit.edu	37	12	12278234	12278235	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:12278234_12278235GG>TT	uc001rah.4	-	20	4586_4587	c.4444_4445CC>AA	c.(4444-4446)cct>AAt	p.P1482N	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1437N	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1482					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)				ACTTACTGCAGGGAAGTAAGTG	0.421000														246			9		0	0	6.4e-05	0	0
OR4M1	441670	broad.mit.edu	37	14	20248596	20248596	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:20248596C>A	uc010tku.2	+	0	115	c.115C>A	c.(115-117)Cta>Ata	p.L39I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTTCATCCTACCAGGAAA	0.423000														106			69		2.92363e-43	1.31376e-41	0.000781405	1	0
HDAC3	8841	broad.mit.edu	37	5	141016144	141016144	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:141016144G>T	uc003llf.2	-	1	175	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	HDAC3_uc003lle.1_5'Flank|HDAC3_uc010jgd.1_Missense_Mutation_p.L37M|HDAC3_uc010jge.1_Non-coding_Transcript|RELL2_uc003lli.3_5'Flank|RELL2_uc003llh.3_5'Flank	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	37	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCGTAATGCAGGACCAGGCTA	0.622000														16			10		3.07112e-06	4.51583e-05	6.40141e-05	1	0
CUX1	1523	broad.mit.edu	37	7	101870822	101870822	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:101870822C>A	uc003uys.4	+	20	3466	c.3339C>A	c.(3337-3339)ccC>ccA	p.P1113P	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.P1102P	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1102					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						ACTCCCAGCCCACAACCCCGC	0.647000														19			7		0.000157383	0.00205587	0.000157383	1	0
DMRTA1	63951	broad.mit.edu	37	9	22447217	22447217	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:22447217C>A	uc003zpp.1	+	0	378	c.153C>A	c.(151-153)ccC>ccA	p.P51P		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	51					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TGCGGCCGCCCAGCCTCTTTC	0.766000														14			4		0.000602214	0.00760143	0.000602214	1	0
USP29	57663	broad.mit.edu	37	19	57642237	57642237	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:57642237G>T	uc002qny.3	+	3	2550	c.2194G>T	c.(2194-2196)Gaa>Taa	p.E732*	USP29_uc021vci.1_Nonsense_Mutation_p.E732*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	732					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGAATGGCTGAACAGCTCCA	0.448000														19			19		1.40151e-16	3.87797e-15	0.000175454	1	0
FAM46C	54855	broad.mit.edu	37	1	118166425	118166425	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:118166425G>T	uc021osq.1	+	0	935	c.935G>T	c.(934-936)aGg>aTg	p.R312M	FAM46C_uc001ehe.3_Missense_Mutation_p.R312M	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	312										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ATCCTTCGCAGGGTGGTGAAC	0.537000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				23			18		3.32936e-07	5.34315e-06	0.00074312	1	0
JUP	3728	broad.mit.edu	37	17	39919252	39919252	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:39919252G>T	uc002hxq.2	-	7	1757	c.1480C>A	c.(1480-1482)Cag>Aag	p.Q494K	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.Q494K|JUP_uc002hxs.2_Missense_Mutation_p.Q494K	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	494					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGTGGCCACTGGTTGGGCTGG	0.587000														34			10		1.33987e-11	2.86162e-10	0.000673444	1	0
KIF4A	24137	broad.mit.edu	37	X	69640028	69640028	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:69640028G>T	uc004dyg.3	+	30	3755	c.3612G>T	c.(3610-3612)aaG>aaT	p.K1204N	KIF4A_uc010nkw.3_Missense_Mutation_p.K1204N|GDPD2_uc010nkx.2_5'Flank|GDPD2_uc010nky.2_5'Flank|GDPD2_uc011mpk.2_5'Flank|GDPD2_uc004dyh.3_5'Flank|GDPD2_uc011mpl.2_5'Flank|GDPD2_uc011mpm.2_5'Flank	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1204	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGAAAACAAGGCTCCAGGGA	0.527000														2			14		4.36969e-10	8.55211e-09	0.000151284	1	0
CCDC62	84660	broad.mit.edu	37	12	123285855	123285855	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:123285855G>T	uc001udc.3	+	8	1324	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.G149W|CCDC62_uc021rfn.1_Missense_Mutation_p.G203W	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	388						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TACTGTGTTTGGGGAGAAAAG	0.428000														24			13		3.27435e-08	5.64173e-07	0.000219431	1	0
SLC6A1	6529	broad.mit.edu	37	3	11064047	11064047	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:11064047G>T	uc010hdq.3	+	6	1018	c.607G>T	c.(607-609)Ggg>Tgg	p.G203W		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	203					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GATGACGGACGGGCTGGATAA	0.597000														8			8		3.09899e-07	4.98768e-06	0.000274275	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209953951	209953951	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:209953951G>T	uc001hho.3	+	15	1869	c.1449_splice	c.e15+1	p.E483_splice	TRAF3IP3_uc001hhn.3_Splice_Site_p.E463_splice|TRAF3IP3_uc009xcr.3_Splice_Site_p.E483_splice	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	483						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGGAAAAGGAGGTGAGAGGGT	0.493000														56			10		4.68919e-08	7.98157e-07	0.000673444	1	0
FRAS1	80144	broad.mit.edu	37	4	79418010	79418010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:79418010G>A	uc003hlb.2	+	59	9450	c.9010G>A	c.(9010-9012)Gaa>Aaa	p.E3004K	FRAS1_uc003hlc.1_Missense_Mutation_p.E6K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2999	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGAGCCAGAGGAACAGTTCAG	0.448000														88			121		0	0	0.000781405	0	0
HMHA1	23526	broad.mit.edu	37	19	1084305	1084305	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:1084305G>T	uc002lqz.1	+	21	3255	c.3024G>T	c.(3022-3024)gtG>gtT	p.V1008V	HMHA1_uc010xgd.1_Silent_p.V1024V|HMHA1_uc010xge.1_Silent_p.V876V|HMHA1_uc002lra.1_Silent_p.V848V|HMHA1_uc002lrb.1_Silent_p.V891V|HMHA1_uc002lrc.1_Silent_p.V643V	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	1008					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCGAGGCGGTGGTCTACCCGC	0.682000														36			23		3.62473e-10	7.16906e-09	0.000229342	1	0
TUBB6	84617	broad.mit.edu	37	18	12325368	12325368	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:12325368G>T	uc002kqw.3	+	3	615	c.580G>T	c.(580-582)Gag>Tag	p.E194*	TUBB6_uc002kqv.3_Nonsense_Mutation_p.E122*|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	194					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCAGCTGGTGGAGAATACAGA	0.587000														53			24		1.04121e-07	1.74062e-06	0.000878237	1	0
SLC7A10	56301	broad.mit.edu	37	19	33703778	33703778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:33703778C>T	uc002num.2	-	2	634	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Missense_Mutation_p.V136M	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	163					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	p.R162W(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATGGACAGCACCCGGGAGGCT	0.632000														43			20		0	0	0.000175454	0	0
UBAC2	337867	broad.mit.edu	37	13	99896180	99896180	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:99896180G>T	uc010tiu.2	+	2	655	c.320G>T	c.(319-321)aGa>aTa	p.R107I	UBAC2_uc001voa.4_Missense_Mutation_p.R85I|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Non-coding_Transcript|UBAC2_uc001vod.3_5'UTR|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Non-coding_Transcript|MIR548AN_uc021rly.1_Intron	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	85						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATATTTGAAAGAAGATATGGA	0.274000														1			3		6.4e-05	0.000870623	6.4e-05	1	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:87738864G>A	uc003ydx.3	-	2	281	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428000														142			73		0	0	0.000781405	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276723	15276723	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:15276723G>T	uc002nan.3	-	29	5618	c.5542C>A	c.(5542-5544)Cgt>Agt	p.R1848S		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1848					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGGCATAACGGGCAGCCAGG	0.627000														14			12		0.00010058	0.00133876	0.00010058	1	0
CDH26	60437	broad.mit.edu	37	20	58571080	58571080	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:58571080C>A	uc002ybe.3	+	11	2170	c.1859C>A	c.(1858-1860)cCt>cAt	p.P620H	CDH26_uc002ybf.1_Missense_Mutation_p.P200H|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCCCTGTTCCCTGTCTGTGCA	0.592000														19			18		0.000229342	0.00298889	0.000229342	1	0
HELQ	113510	broad.mit.edu	37	4	84350799	84350799	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:84350799G>T	uc003hom.3	-	11	2575	c.2396C>A	c.(2395-2397)aCt>aAt	p.T799N	HELQ_uc010ikb.3_Missense_Mutation_p.T732N|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	799							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGATTCAACAGTTATTTCCCA	0.313000								Other identified genes with known or suspected DNA repair function						44			24		2.70639e-06	4.04303e-05	0.000295444	1	0
F3	2152	broad.mit.edu	37	1	94997946	94997946	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:94997946G>T	uc001dqr.3	-	4	903	c.682C>A	c.(682-684)Cga>Aga	p.R228R	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.	228					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)	TTAACTGTTCGGGAGGGAATC	0.463000														28			19		8.34094e-07	1.28712e-05	0.000132079	1	0
RGS12	6002	broad.mit.edu	37	4	3318150	3318150	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:3318150G>T	uc003ggw.3	+	1	1157	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	RGS12_uc003ggu.2_Missense_Mutation_p.G85W|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.G85W|RGS12_uc003ggx.1_Missense_Mutation_p.G85W	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	85	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAAATTAATTGGGAAGTGCTC	0.488000														50			11		5.50884e-06	7.97504e-05	0.00010058	1	0
EIF5	1983	broad.mit.edu	37	14	103807359	103807359	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:103807359G>T	uc001ymt.3	+	10	1761	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N	EIF5_uc001ymq.3_Missense_Mutation_p.K422N|EIF5_uc001ymr.3_Missense_Mutation_p.K422N|EIF5_uc001ymu.3_Missense_Mutation_p.K422N	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	422					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)			CAGACAACAAGGATGACGACA	0.393000														64			38		1.23103e-26	4.73609e-25	0.000680045	1	0
MYO18A	399687	broad.mit.edu	37	17	27442428	27442428	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:27442428C>A	uc002hdt.1	-	12	2417	c.2259G>T	c.(2257-2259)gaG>gaT	p.E753D	MYO18A_uc010wbc.1_Missense_Mutation_p.E295D|MYO18A_uc002hds.2_Missense_Mutation_p.E295D|MYO18A_uc010csa.1_Missense_Mutation_p.E753D|MYO18A_uc002hdu.1_Missense_Mutation_p.E753D|MYO18A_uc010wbd.1_Missense_Mutation_p.E422D	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	753	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCGCCATGCCCTCAAGGCACT	0.632000														32			16		7.45023e-12	1.62201e-10	0.000175454	1	0
GLB1L2	89944	broad.mit.edu	37	11	134239754	134239754	+	Silent	SNP	T	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:134239754T>C	uc001qhp.3	+	10	1271	c.1083T>C	c.(1081-1083)ctT>ctC	p.L361L	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	361					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ACATGAAGCTTCGAGACTTCT	0.547000														36			14		0	0	0.000219431	0	0
SUGP2	10147	broad.mit.edu	37	19	19106039	19106039	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:19106039C>A	uc002nkz.1	-	8	3104	c.3084G>T	c.(3082-3084)ctG>ctT	p.L1028L	SUGP2_uc002nkx.2_Silent_p.L1014L|SUGP2_uc002nla.1_Silent_p.L1014L|SUGP2_uc002nlb.2_Silent_p.L1014L|SUGP2_uc010xqk.1_Silent_p.L783L	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	1014	G-patch.				RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCTGGAAGCCCAGGTTCTTAT	0.612000														19			5		5.9392e-07	9.34467e-06	3.59834e-05	1	0
EFCAB6	64800	broad.mit.edu	37	22	44107483	44107483	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:44107483C>A	uc003bdy.2	-	9	1217	c.903G>T	c.(901-903)aaG>aaT	p.K301N	EFCAB6_uc003bdz.2_Missense_Mutation_p.K149N|EFCAB6_uc010gzi.2_Missense_Mutation_p.K149N|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.K195N|EFCAB6_uc003bea.2_Missense_Mutation_p.K298N	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	301	EF-hand 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTTTTCAACCTTTTCATAAG	0.368000														11			15		3.45872e-05	0.000479694	0.000422831	1	0
PNKD	25953	broad.mit.edu	37	2	219204768	219204768	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:219204768C>A	uc002vhn.3	+	3	513	c.369C>A	c.(367-369)ccC>ccA	p.P123P	PNKD_uc002vhq.3_Silent_p.P99P	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	123						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.P123R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTGCTTCCCATCCCTGTCC	0.647000														26			15		2.32078e-09	4.35982e-08	0.000308642	1	0
KANSL1	284058	broad.mit.edu	37	17	44111638	44111638	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:44111638C>A	uc002ikc.3	-	10	3026	c.2555G>T	c.(2554-2556)aGg>aTg	p.R852M	KANSL1_uc002ikd.3_Missense_Mutation_p.R852M|KANSL1_uc010dav.3_Missense_Mutation_p.R851M|KANSL1_uc010wkb.2_Missense_Mutation_p.R183M|KANSL1_uc010wkc.2_Missense_Mutation_p.R120M	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	852						MLL1 complex	protein binding										CCTTCTCCTCCTTACTGGCTG	0.378000														63			12		1.61879e-10	3.29448e-09	0.00010058	1	0
GALNT13	114805	broad.mit.edu	37	2	155265526	155265526	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:155265526G>T	uc002tyt.4	+	8	1431	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	GALNT13_uc002tyr.4_Missense_Mutation_p.D443Y|GALNT13_uc010foc.1_Missense_Mutation_p.D262Y|GALNT13_uc010fod.3_Missense_Mutation_p.D196Y	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	443	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCAGTGTTTAGACAACATGGG	0.368000														36			31		8.53417e-09	1.54137e-07	0.000491102	1	0
ZNF75D	7626	broad.mit.edu	37	X	134427680	134427680	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:134427680C>A	uc022ceq.1	-	1	777	c.387G>T	c.(385-387)agG>agT	p.R129S	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.R129S	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	129	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CATCAGGCTCCCTCTGCAAGA	0.453000														8			65		3.13743e-37	1.35561e-35	0.000781405	1	0
FCGR3B	2215	broad.mit.edu	37	1	161594326	161594326	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:161594326G>T	uc009wul.3	-	4	1049	c.789C>A	c.(787-789)ttC>ttA	p.F263L	FCGR3B_uc021pdo.1_Missense_Mutation_p.F227L	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	227					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTTCACAGAGAAATATAGTC	0.463000														45			87		2.78983e-34	1.16944e-32	0.000781405	1	0
HDAC10	83933	broad.mit.edu	37	22	50686332	50686332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686332C>T	uc003bkg.3	-	12	1697	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Missense_Mutation_p.E422K|HDAC10_uc003bkh.3_Missense_Mutation_p.E235K|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.E76K	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	442					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCAGGCTTCTGTCTCCTCC	0.632000														10			16		0	0	0.000375601	0	0
MUC16	94025	broad.mit.edu	37	19	9082643	9082643	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:9082643C>A	uc002mkp.3	-	0	9376	c.9172G>T	c.(9172-9174)Ggg>Tgg	p.G3058W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3059	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						ATGGAAGGCCCAAGAAATAGT	0.488000														54			45		1.03325e-14	2.6143e-13	0.000589545	1	0
KCNJ1	3758	broad.mit.edu	37	11	128709265	128709265	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:128709265G>T	uc001qeo.1	-	1	982	c.931C>A	c.(931-933)Cgg>Agg	p.R311R	KCNJ1_uc001qep.1_Silent_p.R292R|KCNJ1_uc001qeq.1_Silent_p.R292R|KCNJ1_uc001qer.1_Silent_p.R292R|KCNJ1_uc001qes.1_Silent_p.R292R|KCNJ1_uc021qsb.1_Silent_p.R292R	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	311					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TAGGATGTCCGGACTTGGCAG	0.498000														29			11		4.68919e-08	7.98157e-07	0.000673444	1	0
C10orf54	64115	broad.mit.edu	37	10	73511607	73511607	+	Missense_Mutation	SNP	C	T	T	rs141431398		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:73511607C>T	uc001jsd.3	-	5	857	c.716G>A	c.(715-717)gGg>gAg	p.G239E	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.G107E	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	239						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTTTTCAATCCCTTGAATGTT	0.587000														17			12		0	0	0.000308642	0	0
abParts	0	broad.mit.edu	37	14	106667806	106667806	+	RNA	SNP	T	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:106667806T>G	uc021ser.1	-	1314		c.27121A>C								Parts of antibodies, mostly variable regions.																		ATCCAGAGGCTGCACAGGAGA	0.577000														44			18		0	0	0.000566183	0	0
ELFN2	114794	broad.mit.edu	37	22	37770177	37770177	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:37770177G>T	uc003asq.4	-	2	2184	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	ELFN2_uc021wph.1_Silent_p.P466P	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	466						cell surface|integral to membrane		p.P466P(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGAGATACGGGCAGCACGG	0.647000														104			42		3.77016e-25	1.4118e-23	0.000680045	1	0
PROSER1	80209	broad.mit.edu	37	13	39587682	39587682	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:39587682C>T	uc001uwy.3	-	10	2580	c.1707G>A	c.(1705-1707)acG>acA	p.T569T	PROSER1_uc001uwz.3_Silent_p.T547T	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	569	Ser-rich.																CTGGCACTGACGTGGAAGCTG	0.572000														270			24		0	0	0.000375601	0	0
RNF146	81847	broad.mit.edu	37	6	127607950	127607950	+	Silent	SNP	T	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:127607950T>G	uc021zes.1	+	2	328	c.192T>G	c.(190-192)gcT>gcG	p.A64A	RNF146_uc021zet.1_Silent_p.A63A|RNF146_uc021zeu.1_Silent_p.A63A|RNF146_uc021zev.1_Silent_p.A63A|RNF146_uc021zew.1_Silent_p.A64A|RNF146_uc003qat.3_Silent_p.A63A|RNF146_uc021zex.1_Silent_p.A63A|RNF146_uc003qaw.3_Silent_p.A63A|RNF146_uc003qau.3_Silent_p.A63A|RNF146_uc003qav.3_Silent_p.A64A|RNF146_uc021zey.1_Silent_p.A63A	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	64					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S64T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TAAAAGGAGCTTCATGGCTTG	0.463000														14			25		0	0	0.000720815	0	0
CSPG4	1464	broad.mit.edu	37	15	75981198	75981198	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:75981198C>A	uc002baw.3	-	2	2301	c.2208G>T	c.(2206-2208)gtG>gtT	p.V736V		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	736	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGCCCTGCTCCACATCCCGCT	0.667000														22			14		2.32078e-09	4.35982e-08	0.000308642	1	0
ACTR3C	653857	broad.mit.edu	37	7	149981869	149981869	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:149981869G>T	uc003wgu.2	-	5	727	c.537C>A	c.(535-537)ccC>ccA	p.P179P	ACTR3C_uc022aps.1_Silent_p.P179P	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	179					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										GCACATCGATGGGGCAGTTCT	0.403000														25			15		5.3912e-06	7.82491e-05	0.00074312	1	0
COL27A1	85301	broad.mit.edu	37	9	116931364	116931364	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:116931364C>A	uc011lxl.2	+	2	1529	c.1529C>A	c.(1528-1530)cCa>cAa	p.P510Q	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P360Q	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	510	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATGGTACCTCCAACTTCGGGC	0.582000														57			34		3.6622e-26	1.3899e-24	0.000692331	1	0
FGFR2	2263	broad.mit.edu	37	10	123325091	123325091	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:123325091C>A	uc021pzz.1	-	2	884	c.237G>T	c.(235-237)ttG>ttT	p.L79F	FGFR2_uc021pzv.1_Missense_Mutation_p.L79F|FGFR2_uc021pzw.1_Intron|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.L79F|FGFR2_uc010qtl.2_Missense_Mutation_p.L79F|FGFR2_uc010qtm.2_Intron|FGFR2_uc021qaa.1_Missense_Mutation_p.L79F|FGFR2_uc021qab.1_Intron|FGFR2_uc021qac.1_Intron|FGFR2_uc001lfn.4_Intron|FGFR2_uc010qtn.2_Missense_Mutation_p.L98F|FGFR2_uc010qto.2_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.L98F|FGFR2_uc010qtp.2_Missense_Mutation_p.L98F|FGFR2_uc010qtq.2_Missense_Mutation_p.L98F	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	79	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGTTGGGCCCCAAGTGCACCC	0.567000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					58			31		9.04072e-19	2.7156e-17	0.00058488	1	0
ZNF577	84765	broad.mit.edu	37	19	52381728	52381728	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:52381728C>A	uc010yde.2	-	4	492	c.101G>T	c.(100-102)aGg>aTg	p.R34M	ZNF577_uc010ydd.1_Non-coding_Transcript|ZNF577_uc002pxx.4_Missense_Mutation_p.R34M|ZNF577_uc002pxv.3_Missense_Mutation_p.R27M|ZNF577_uc002pxw.3_Missense_Mutation_p.R27M	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCACTCCTCCCTGGTGAAGCC	0.438000														57			12		0.000151284	0.0020089	0.000151284	1	0
KANSL2	54934	broad.mit.edu	37	12	49061513	49061513	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:49061513G>T	uc001rrz.2	-	5	1529	c.1485C>A	c.(1483-1485)tcC>tcA	p.S495S	KANSL2_uc001rrw.2_Silent_p.S117S|KANSL2_uc001rrx.2_Silent_p.S312S|KANSL2_uc001rry.2_Non-coding_Transcript|SNORA2B_uc001rsc.1_5'Flank	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	312																	GAGACTGATTGGAACAACGAA	0.443000														54			39		2.47872e-24	9.1e-23	0.000509022	1	0
JUP	3728	broad.mit.edu	37	17	39912104	39912104	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:39912104G>A	uc002hxq.2	-	13	2407	c.2130C>T	c.(2128-2130)ccC>ccT	p.P710P	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.P710P|JUP_uc002hxs.2_Silent_p.P710P	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	710					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGGGTCAAGGGGCACATCGC	0.617000														20			7		0	0	8.12818e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32062857	32062857	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:32062857G>T	uc003nzl.2	-	3	2556	c.2354C>A	c.(2353-2355)cCc>cAc	p.P785H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	747					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCACCGTGGGGATGAACTG	0.587000														265			9		3.86212e-05	0.000530404	0.000673444	1	0
ITGA7	3679	broad.mit.edu	37	12	56094079	56094079	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:56094079G>T	uc001shh.3	-	4	989	c.769C>A	c.(769-771)Cgc>Agc	p.R257S	ITGA7_uc001shg.3_Intron|ITGA7_uc010sps.2_Missense_Mutation_p.R160S|ITGA7_uc009znx.3_Intron	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	257					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGATGAGGCGGGGGTCCTGC	0.652000														10			8		0.000274275	0.00353349	0.000274275	1	0
OR52E6	390078	broad.mit.edu	37	11	5862851	5862851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:5862851C>T	uc010qzq.2	-	0	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGATATTTCCTTGATATTG	0.473000														67			53		0	0	0.000781405	0	0
HDAC10	83933	broad.mit.edu	37	22	50686482	50686482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686482C>T	uc003bkg.3	-	12	1547	c.1174G>A	c.(1174-1176)Gca>Aca	p.A392T	HDAC10_uc010hav.3_Missense_Mutation_p.A372T|HDAC10_uc003bkh.3_Missense_Mutation_p.A185T|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.A26T	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	392					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGCAGATGCAGCTGCCTTA	0.652000														11			38		0	0	0.000814825	0	0
FCER1A	2205	broad.mit.edu	37	1	159275846	159275846	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:159275846G>T	uc001ftq.3	+	4	497	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	134	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAGGTGCCATGGTTGGAGGAA	0.468000														56			19		1.00905e-13	2.43254e-12	0.000132079	1	0
NFKB1	4790	broad.mit.edu	37	4	103517372	103517372	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:103517372G>T	uc011ceq.2	+	13	1842	c.1375G>T	c.(1375-1377)Ggg>Tgg	p.G459W	NFKB1_uc011cep.2_Missense_Mutation_p.G460W|NFKB1_uc011cer.2_Missense_Mutation_p.G279W	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	459	Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	AAACCTCTTTGGGAAAGTTAT	0.428000														64			24		2.89027e-11	6.03518e-10	0.000295444	1	0
NOS1	4842	broad.mit.edu	37	12	117696876	117696876	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:117696876C>A	uc001twn.2	-	14	3138	c.2427G>T	c.(2425-2427)gtG>gtT	p.V809V	NOS1_uc021ren.1_Silent_p.V473V|NOS1_uc021reo.1_Silent_p.V473V|NOS1_uc001twm.2_Silent_p.V809V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	809	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)	TGCTGGTGACCACAAGGACCA	0.502000														35			17		3.62473e-10	7.16906e-09	0.000229342	1	0
HERC2	8924	broad.mit.edu	37	15	28538062	28538062	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:28538062C>A	uc001zbj.3	-	3	400	c.294G>T	c.(292-294)ctG>ctT	p.L98L	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	98					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCAGCTGTCCAGAATTGACT	0.418000														28			15		1.45105e-14	3.63864e-13	0.00074312	1	0
UFM1	51569	broad.mit.edu	37	13	38924142	38924142	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:38924142G>T	uc001uwu.3	+	1	124	c.9G>T	c.(7-9)aaG>aaT	p.K3N	UFM1_uc010abz.2_Missense_Mutation_p.K3N|UFM1_uc010aca.2_Missense_Mutation_p.K3N	NM_016617	NP_057701	P61960	UFM1_HUMAN	Homo sapiens ubiquitin-fold modifier 1 (UFM1), mRNA.	3					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TCAGGTCGAAGGTTTCCTTTA	0.577000														250			36		3.33393e-15	8.7508e-14	0.000953801	1	0
PRR13	54458	broad.mit.edu	37	12	53839807	53839807	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:53839807C>A	uc001scz.4	+	3	575	c.411C>A	c.(409-411)tcC>tcA	p.S137S	PRR13_uc001scy.4_Silent_p.S87S|PCBP2_uc010soh.1_Intron|PRR13_uc001sda.4_Silent_p.S137S	NM_018457	NP_060927	Q9NZ81	PRR13_HUMAN	Homo sapiens proline rich 13 (PRR13), transcript variant 2, mRNA.	137	Ser-rich.			S -> P (in Ref. 3; CAE45980).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						AGCATTCCTCCTCTTCCTCCT	0.532000														51			38		8.48111e-28	3.30822e-26	0.000781405	1	0
KRT75	9119	broad.mit.edu	37	12	52827670	52827670	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52827670G>T	uc001saj.2	-	0	441	c.419C>A	c.(418-420)cCc>cAc	p.P140H		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	140	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGGATGGTGGGGTCGATTTG	0.597000														33			18		1.01871e-10	2.10372e-09	0.000132079	1	0
APOD	347	broad.mit.edu	37	3	195300832	195300832	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:195300832C>A	uc003fur.2	-	2	496	c.134G>T	c.(133-135)aGa>aTa	p.R45I	APOD_uc011bsx.1_Missense_Mutation_p.R45I	NM_001647	NP_001638	P05090	APOD_HUMAN	Homo sapiens apolipoprotein D (APOD), mRNA.	45					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCGTACCATCTTCCGAGATA	0.488000														43			18		2.37509e-13	5.62907e-12	0.000175454	1	0
FLJ43860	389690	broad.mit.edu	37	8	142458048	142458048	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:142458048G>T	uc003ywi.2	-	21	2856	c.2775C>A	c.(2773-2775)ccC>ccA	p.P925P	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	926							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTGCTGCTTGGGCTAGGGCT	0.652000														5			5		1.23904e-05	0.000174428	0.000602214	1	0
CYP27C1	339761	broad.mit.edu	37	2	127950714	127950714	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:127950714C>A	uc002tod.2	-	6	1089	c.958G>T	c.(958-960)Ggg>Tgg	p.G320W	CYP27C1_uc021vnn.1_Missense_Mutation_p.G320W	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	320						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.G320R(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ATTCTCCGCCCTATGCAGCTG	0.557000														19			12		9.16793e-09	1.65052e-07	0.000566183	1	0
RNF213	57674	broad.mit.edu	37	17	78321960	78321960	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:78321960G>T	uc002jyh.2	+	29	10115	c.9972G>T	c.(9970-9972)ctG>ctT	p.L3324L	RNF213_uc021uen.1_Silent_p.L3275L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTACTCGCTGGGCGGGTTCG	0.602000														49			17		1.56452e-12	3.52929e-11	0.000958276	1	0
IGDCC4	57722	broad.mit.edu	37	15	65693168	65693168	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:65693168G>T	uc002aou.1	-	4	1027	c.817C>A	c.(817-819)Cct>Act	p.P273T		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	273	Ig-like C2-type 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GACACAAAAGGGGTGGGGTCA	0.617000											OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			15		2.32078e-09	4.35982e-08	0.000308642	1	0
LRIT2	340745	broad.mit.edu	37	10	85982090	85982090	+	Silent	SNP	G	T	T	rs74145771	by1000genomes	TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:85982090G>T	uc010qmc.2	-	3	1277	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	LRIT2_uc001kcy.3_Silent_p.P413P	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	413	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TATTGATTCCGGGGCCAATGT	0.552000														38			37		4.62619e-21	1.54674e-19	0.000814825	1	0
ANKRD17	26057	broad.mit.edu	37	4	73959836	73959836	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:73959836T>C	uc003hgp.3	-	27	5404	c.5287A>G	c.(5287-5289)Aaa>Gaa	p.K1763E	ANKRD17_uc003hgo.3_Missense_Mutation_p.K1650E|ANKRD17_uc003hgq.3_Missense_Mutation_p.K1512E|ANKRD17_uc003hgr.3_Missense_Mutation_p.K1762E	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1763	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTTCTGTTTATCAATATCT	0.358000														33			44		0	0	0.000589545	0	0
HDAC10	83933	broad.mit.edu	37	22	50686183	50686183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686183C>T	uc003bkg.3	-	13	1733	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Missense_Mutation_p.E434K|HDAC10_uc003bkh.3_Missense_Mutation_p.E247K|HDAC10_uc003bkj.3_Intron|HDAC10_uc003bkk.1_Silent_p.G125G	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	454					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCCTCCTCCCGGGCCAGG	0.632000														24			6		0	0	0.000274275	0	0
CLDN8	9073	broad.mit.edu	37	21	31587640	31587640	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:31587640G>T	uc002ynu.2	-	0	830	c.604C>A	c.(604-606)Cat>Aat	p.H202N		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	202					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GTTGTGCGATGGGAAGGTATC	0.443000														67			30		3.03874e-20	9.80954e-19	0.00058488	1	0
TAB1	10454	broad.mit.edu	37	22	39811105	39811105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:39811105G>A	uc003axt.3	+	1	177	c.128G>A	c.(127-129)gGc>gAc	p.G43D	TAB1_uc003axr.3_Missense_Mutation_p.G119D|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.G43D	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	43					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GATGGCAAGGGCACTGAGAGC	0.612000														116			50		0	0	0.000781405	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858428	9858428	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:9858428G>A	uc010uym.2	-	13	3283	c.2973C>T	c.(2971-2973)tcC>tcT	p.S991S	GRIN2A_uc002czo.4_Silent_p.S991S|GRIN2A_uc010uyn.2_Silent_p.S834S|GRIN2A_uc002czr.4_Silent_p.S991S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	991					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTTAGGGTTGGACTCATTGA	0.493000														47			11		0	0	0.000151284	0	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	G	G	rs121913255		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:115256528T>G	uc009wgu.3	-	2	437	c.183A>C	c.(181-183)caA>caC	p.Q61H		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(898)|p.Q61K(635)|p.Q61H(223)|p.Q61L(198)|p.Q61P(23)|p.Q61E(9)|p.Q61Q(6)|p.G60E(6)|p.Q61?(5)|p.Q61_E62>HK(2)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				13			87		0	0	0.000781405	0	0
ABCC8	6833	broad.mit.edu	37	11	17419937	17419937	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:17419937G>A	uc001mnc.3	-	29	3828	c.3702C>T	c.(3700-3702)aaC>aaT	p.N1234N		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1234	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGAAGCAATGTTGTTGGAGT	0.547000														154			88		0	0	0.000781405	0	0
RELT	84957	broad.mit.edu	37	11	73101837	73101837	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:73101837C>A	uc001otv.3	+	3	323	c.158C>A	c.(157-159)cCa>cAa	p.P53Q	RELT_uc001otw.3_Missense_Mutation_p.P53Q|RELT_uc009yto.1_5'UTR|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	53						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CCCTGCCCCCCAGGCACCTTC	0.667000														27			27		1.88708e-17	5.38058e-16	0.000227799	1	0
FAHD1	81889	broad.mit.edu	37	16	1877845	1877845	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:1877845C>A	uc002cnc.1	+	0	621	c.615C>A	c.(613-615)atC>atA	p.I205I	HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Silent_p.I205I|FAHD1_uc010brz.3_Silent_p.I205I	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	205						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						ACGATGAGATCGAGGCTGGCA	0.423000														39			21		4.72057e-08	7.98658e-07	0.000586117	1	0
CD86	942	broad.mit.edu	37	3	121822564	121822564	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:121822564G>T	uc003eet.3	+	2	398	c.270G>T	c.(268-270)tcG>tcT	p.S90S	CD86_uc011bjo.2_Silent_p.S8S|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Silent_p.S84S|CD86_uc021xcz.1_Silent_p.S84S	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	90	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTTTTGATTCGGACAGTTGGA	0.438000														78			37		1.69901e-12	3.81734e-11	0.000191422	1	0
APOB	338	broad.mit.edu	37	2	21228575	21228576	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:21228575_21228576GG>TT	uc002red.3	-	25	11292_11293	c.11164_11165CC>AA	c.(11164-11166)cct>AAt	p.P3722N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3722					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACTTTTACAGGGATGGAGAAT	0.406000														471			13		0	0	6.4e-05	0	0
KCNT2	343450	broad.mit.edu	37	1	196295854	196295854	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:196295854C>A	uc001gtd.1	-	18	2329	c.2269G>T	c.(2269-2271)Gat>Tat	p.D757Y	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Missense_Mutation_p.D707Y|KCNT2_uc001gtf.1_Missense_Mutation_p.D757Y|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.D757Y|KCNT2_uc001gth.1_Missense_Mutation_p.D278Y	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	757						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						TACGGGTTATCCAATAGCAGT	0.303000														30			43		4.18559e-23	1.50708e-21	0.000781405	1	0
FAF1	11124	broad.mit.edu	37	1	51323654	51323654	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:51323654C>A	uc001cse.1	-	1	514	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	FAF1_uc009vyw.1_Non-coding_Transcript	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	21					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(5)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCAATGTTTTCAATGCCAGTA	0.279000														32			19		7.45023e-12	1.62201e-10	0.000175454	1	0
MECOM	2122	broad.mit.edu	37	3	168834350	168834350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:168834350C>T	uc011bpj.1	-	7	1713	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	MECOM_uc010hwk.1_Missense_Mutation_p.G272E|MECOM_uc003ffj.3_Missense_Mutation_p.G314E|MECOM_uc003ffi.3_Missense_Mutation_p.G249E|MECOM_uc011bpi.1_Missense_Mutation_p.G250E|MECOM_uc003ffn.3_Missense_Mutation_p.G249E|MECOM_uc003ffk.2_Missense_Mutation_p.G249E|MECOM_uc003ffl.2_Missense_Mutation_p.G409E|MECOM_uc011bpk.1_Missense_Mutation_p.G249E|MECOM_uc010hwn.2_Missense_Mutation_p.G437E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCCAAAAAATCCACCTGCCGC	0.448000														72			24		0	0	0.000720815	0	0
DNAH17	8632	broad.mit.edu	37	17	76535915	76535915	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:76535915C>T	uc010dhp.2	-	17	2705	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGACATAATCCTTCCAGGGCA	0.453000														53			24		0	0	0.000586117	0	0
TERT	7015	broad.mit.edu	37	5	1278788	1278788	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:1278788G>T	uc003jcb.1	-	5	2312	c.2254C>A	c.(2254-2256)Cat>Aat	p.H752N	TERT_uc003jbz.1_Silent_p.P8P|TERT_uc003jcc.1_Missense_Mutation_p.H752N|TERT_uc003jca.1_Missense_Mutation_p.H740N|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.H204N	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	752	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGTGCCCATGGGCGGCCTTC	0.572000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					362			72		1.69816e-31	6.96244e-30	0.000781405	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254032	39254032	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:39254032G>T	uc010wfo.2	-	0	344	c.305C>A	c.(304-306)cCc>cAc	p.P102H		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	102	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						acagcagctggggcggcagca	0.662000														19			7		1.76689e-08	3.10145e-07	0.000442599	1	0
MMP28	79148	broad.mit.edu	37	17	34097293	34097293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:34097293C>T	uc002hjy.1	-	5	899	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	215					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGTGCGCTTCGCCGCGGCGG	0.731000														5			5		0	0	0.000602214	0	0
KCNQ1	3784	broad.mit.edu	37	11	2604676	2604676	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:2604676C>A	uc001lwn.3	+	6	1041	c.933C>A	c.(931-933)acC>acA	p.T311T	KCNQ1_uc009ydp.1_Silent_p.T95T|KCNQ1_uc001lwo.3_Silent_p.T184T	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	311			T -> I (in LQT1).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCACAGTCACCACCATCGGCT	0.617000														111			74		5.82419e-33	2.42329e-31	0.000781405	1	0
TMC7	79905	broad.mit.edu	37	16	19020565	19020565	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:19020565C>A	uc002dfp.2	+	1	269	c.139C>A	c.(139-141)Cgg>Agg	p.R47R	TMC7_uc010vao.1_Silent_p.R47R|TMC7_uc002dfq.3_Silent_p.R47R|TMC7_uc010vap.2_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	47						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCCAAGCTACCGGTCCATTGC	0.488000														33			30		7.26314e-15	1.85441e-13	0.000184323	1	0
FURIN	5045	broad.mit.edu	37	15	91419735	91419735	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:91419735G>T	uc002bpu.1	+	3	536	c.320G>T	c.(319-321)cGg>cTg	p.R107L		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	107		Cleavage, first; by autolysis.			Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGGACTAAACGGGACGTGTAC	0.617000														109			48		7.47603e-22	2.52969e-20	0.000781405	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142480004	142480004	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:142480004C>A	uc011ksq.2	+	1	219	c.136C>A	c.(136-138)Cac>Aac	p.H46N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TTCTGGCTCCCACTTCTGCGG	0.557000														103			20		1.55795e-14	3.88933e-13	0.000229342	1	0
FAM129A	116496	broad.mit.edu	37	1	184863270	184863270	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:184863270C>A	uc001gra.3	-	2	451	c.257G>T	c.(256-258)tGg>tTg	p.W86L	FAM129A_uc009wyh.1_Missense_Mutation_p.W86L|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	86					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTCTCCTTCCACTTCTTTAT	0.353000														107			31		1.61788e-16	4.39016e-15	0.000409698	1	0
NXF3	56000	broad.mit.edu	37	X	102337259	102337259	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:102337259C>A	uc004eju.3	-	8	885	c.814G>T	c.(814-816)Ggg>Tgg	p.G272W	NXF3_uc010noi.1_Missense_Mutation_p.G122W|NXF3_uc011mrw.1_Missense_Mutation_p.G272W|NXF3_uc011mrx.1_Missense_Mutation_p.G183W	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	272						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGCTCTATCCCTTTCCACTTG	0.547000														13			47		2.0833e-19	6.46513e-18	0.000781405	1	0
MAGT1	84061	broad.mit.edu	37	X	77130990	77130991	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:77130990_77130991CG>AT	uc004fof.3	-	1	364_365	c.302_303CG>AT	c.(301-303)ccg>cAT	p.P101H	MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Missense_Mutation_p.P101H	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	69					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTAATTTCTCGGTGGGGCTTT	0.411000														100			6		0	0	6.4e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751047	140751047	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:140751047G>T	uc003ljw.2	+	0	1086	c.1086G>T	c.(1084-1086)ctG>ctT	p.L362L	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.L362L|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	365	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGAGCTGGGGACTGCCG	0.403000														15			10		0.000673444	0.00844361	0.000673444	1	0
VWA1	64856	broad.mit.edu	37	1	1374540	1374540	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:1374540C>T	uc001afs.3	+	2	937	c.711C>T	c.(709-711)acC>acT	p.T237T	VWA1_uc001afr.3_3'UTR	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	237	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCTGCTGACCGCAGACTCGG	0.701000														13			9		0	0	0.000673444	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41622690	41622690	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:41622690G>T	uc003azo.3	+	12	1583	c.1529G>T	c.(1528-1530)tGg>tTg	p.W510L	L3MBTL2_uc010gyi.1_Missense_Mutation_p.W419L|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	510					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTTTCAACTGGGAGAACTAC	0.552000														54			19		5.26018e-13	1.2159e-11	0.000229342	1	0
HOXB6	3216	broad.mit.edu	37	17	46673903	46673903	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:46673903G>T	uc002ins.1	-	3	872	c.547C>A	c.(547-549)Ctg>Atg	p.L183M	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB5_uc002inr.3_5'Flank|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB6_uc010dbh.1_Missense_Mutation_p.L183M|HOXB6_uc002int.1_3'UTR|HOXB-AS3_uc021tzk.1_Intron	NM_018952	NP_061825	P17509	HXB6_HUMAN	Homo sapiens homeobox B6 (HOXB6), mRNA.	183					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTCAGGCACAGGGCGTGCGCG	0.582000														108			43		9.52127e-25	3.54179e-23	0.000781405	1	0
FBL	2091	broad.mit.edu	37	19	40329698	40329698	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:40329698G>T	uc002omn.3	-	4	640	c.526C>A	c.(526-528)Cat>Aat	p.H176N	FBL_uc002omm.1_Missense_Mutation_p.H90N|FBL_uc002omo.2_Missense_Mutation_p.H175N|FBL_uc010egr.3_Missense_Mutation_p.H176N	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	176					rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCAGAGACATGGGAGACCGTG	0.577000														50			19		1.36565e-18	4.08023e-17	0.000375601	1	0
GH2	2689	broad.mit.edu	37	17	61958123	61958123	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:61958123C>A	uc002jcl.1	-	3	527	c.465G>T	c.(463-465)gtG>gtT	p.V155V	GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Intron|GH2_uc002jcm.1_Intron	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	154						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCCCTGGTGCCACCCTCACCC	0.597000														69			28		1.74197e-06	2.65167e-05	0.000147802	1	0
SPATS2	65244	broad.mit.edu	37	12	49890753	49890753	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:49890753G>T	uc001rud.2	+	7	1653	c.664G>T	c.(664-666)Ggg>Tgg	p.G222W	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.G222W|SPATS2_uc001ruf.2_Missense_Mutation_p.G222W	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	222						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TTCAAATATGGGGATGGAAGA	0.433000														38			19		1.28384e-07	2.10243e-06	0.000229342	1	0
ENTHD1	150350	broad.mit.edu	37	22	40161412	40161413	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:40161412_40161413GG>TT	uc003ayg.3	-	5	1285_1286	c.1034_1035CC>AA	c.(1033-1035)ccc>cAA	p.P345Q		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	345										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCTTAAGTCGGGGCTGATAAA	0.411000														137			6		0	0	6.4e-05	0	0
NDC80	10403	broad.mit.edu	37	18	2577813	2577813	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:2577813C>A	uc002kli.3	+	3	430	c.248C>A	c.(247-249)cCg>cAg	p.P83Q		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	83	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding	p.P83P(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATCAAGGACCCGAGACCACTT	0.363000														33			35		2.20474e-14	5.45551e-13	0.000692331	1	0
SRCIN1	80725	broad.mit.edu	37	17	36709048	36709048	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:36709048G>T	uc002hqd.3	-	11	2470	c.2245C>A	c.(2245-2247)Cac>Aac	p.H749N	SRCIN1_uc002hqf.1_Missense_Mutation_p.H621N|SRCIN1_uc002hqe.2_Missense_Mutation_p.H603N|SRCIN1_uc002hqg.3_Missense_Mutation_p.H55N	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	621					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CGGTGGTTGTGGGACACGTCT	0.632000														56			9		2.80697e-09	5.20356e-08	6.40141e-05	1	0
MYH11	4629	broad.mit.edu	37	16	15841937	15841937	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:15841937G>T	uc002ddx.3	-	17	2275	c.2168C>A	c.(2167-2169)cCc>cAc	p.P723H	MYH11_uc002ddv.3_Missense_Mutation_p.P723H|MYH11_uc002ddw.3_Missense_Mutation_p.P716H|MYH11_uc002ddy.3_Missense_Mutation_p.P716H|MYH11_uc010bvg.3_Missense_Mutation_p.P548H	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	716	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GATCCGGTTGGGGAAGCCCTG	0.632000			T	CBFB	AML									26			9		3.86212e-05	0.000530404	0.000673444	1	0
OR52J3	119679	broad.mit.edu	37	11	5067867	5067867	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:5067867C>A	uc010qyv.2	+	0	112	c.112C>A	c.(112-114)Ctt>Att	p.L38I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTTTACCTTGTGGCTTT	0.488000														37			10		2.17888e-05	0.000304447	0.000442599	1	0
PLCE1	51196	broad.mit.edu	37	10	95892021	95892021	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:95892021C>A	uc001kjk.3	+	2	1931	c.1297C>A	c.(1297-1299)Cat>Aat	p.H433N	PLCE1_uc010qnx.2_Missense_Mutation_p.H433N|PLCE1_uc001kjm.3_Missense_Mutation_p.H125N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	433					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGAGACAGCCCATGGAAGGAT	0.468000														43			30		8.58068e-18	2.48442e-16	0.000184323	1	0
LATS2	26524	broad.mit.edu	37	13	21549192	21549192	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:21549192G>T	uc009zzs.3	-	7	3449	c.3084C>A	c.(3082-3084)ccC>ccA	p.P1028P	LATS2_uc001unr.4_Silent_p.P1028P	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	1028	AGC-kinase C-terminal.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTTGTTATTGGGCGAGGTGA	0.527000														59			40		6.5261e-18	1.90923e-16	0.000374591	1	0
VPRBP	9730	broad.mit.edu	37	3	51475839	51475839	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:51475839G>T	uc003dbe.2	-	7	773	c.588C>A	c.(586-588)ccC>ccA	p.P196P	VPRBP_uc021wys.1_Silent_p.P195P|VPRBP_uc003dbg.2_Silent_p.P196P	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	196					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCCGTGGACTGGGACGCTTGT	0.502000														112			101		2.18974e-44	9.91919e-43	0.000781405	1	0
C1orf112	55732	broad.mit.edu	37	1	169790900	169790900	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:169790900G>T	uc001ggq.3	+	9	1483	c.783_splice	c.e9+1	p.K261_splice	C1orf112_uc001ggj.3_Splice_Site|C1orf112_uc001ggp.3_Splice_Site_p.K261_splice|C1orf112_uc009wvt.3_Splice_Site|C1orf112_uc010plu.1_Splice_Site_p.K232_splice|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.3_Splice_Site_p.K126_splice|C1orf112_uc010plv.2_Splice_Site_p.K203_splice	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	261										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					actacgctaaggtaaggcttt	0.333000														60			21		2.4624e-09	4.59511e-08	0.000132079	1	0
TEX2	55852	broad.mit.edu	37	17	62291306	62291306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:62291306G>A	uc002jed.3	-	1	423	c.272C>T	c.(271-273)tCg>tTg	p.S91L	TEX2_uc002jec.3_Missense_Mutation_p.S91L|TEX2_uc002jee.3_Missense_Mutation_p.S91L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	91					signal transduction|sphingolipid metabolic process	integral to membrane		p.S91L(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGGACAGGCGAGGCAGCAGG	0.592000														90			126		0	0	0.000781405	0	0
LRRC52	440699	broad.mit.edu	37	1	165513559	165513559	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:165513559C>A	uc001gde.2	+	0	82	c.26C>A	c.(25-27)cCt>cAt	p.P9H	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.	9						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)					GGCCCTGGCCCTGGGTGGTTA	0.542000														111			23		4.72057e-08	7.98658e-07	0.000586117	1	0
SLC39A14	23516	broad.mit.edu	37	8	22265865	22265865	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:22265865G>T	uc003xbq.4	+	2	488	c.313G>T	c.(313-315)Gag>Tag	p.E105*	SLC39A14_uc011kzg.2_Nonsense_Mutation_p.E105*|SLC39A14_uc003xbp.4_Nonsense_Mutation_p.E105*|SLC39A14_uc011kzh.2_Nonsense_Mutation_p.E105*	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.	105						Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CAATTTCAGCGAGCAGTCGCG	0.592000														41			24		1.42536e-11	3.02122e-10	0.000720815	1	0
OR4C16	219428	broad.mit.edu	37	11	55340324	55340324	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:55340324C>A	uc010rih.2	+	0	721	c.721C>A	c.(721-723)Cac>Aac	p.H241N		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGTGTCTCCCACATCATTGT	0.393000														24			24		2.98393e-07	4.81631e-06	0.000375601	1	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000														99			5		0	0	0.000602214	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808228	100808228	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:100808228G>A	uc022cak.1	+	0	315	c.315G>A	c.(313-315)gaG>gaA	p.E105E	ARMCX1_uc004ehv.3_Silent_p.E105E|ARMCX1_uc004ehw.3_Silent_p.E105E	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	105						integral to membrane	binding	p.E105Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GTGGCCTAGAGGCCAAGGCCA	0.567000														9			17		0	0	0.000958276	0	0
EXOSC7	23016	broad.mit.edu	37	3	45052801	45052801	+	Silent	SNP	C	A	A	rs140279197		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:45052801C>A	uc003coi.2	+	7	875	c.846C>A	c.(844-846)ccC>ccA	p.P282P	EXOSC7_uc003coh.1_Silent_p.P217P|EXOSC7_uc010his.1_Silent_p.P201P	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	282					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCCTGGGGCCCAAGAGACAGA	0.473000														18			20		1.66031e-10	3.36676e-09	0.000586117	1	0
IQGAP3	128239	broad.mit.edu	37	1	156513984	156513984	+	Missense_Mutation	SNP	C	A	A	rs147371313		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:156513984C>A	uc001fpf.3	-	20	2495	c.2420G>T	c.(2419-2421)cGg>cTg	p.R807L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	807	IQ 3.				small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTATTGCCTCCGAGCTGCCCA	0.577000														176			6		0.000157383	0.00205587	0.000157383	1	0
DNAH5	1767	broad.mit.edu	37	5	13753355	13753355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:13753355C>T	uc003jfd.2	-	62	10901	c.10859G>A	c.(10858-10860)cGa>cAa	p.R3620Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3620	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGTTCATTTCGGCTTTCTTT	0.333000									Kartagener syndrome					159			18		0	0	0.00074312	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396303	43396303	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:43396303G>A	uc001cik.2	-	3	1035	c.510C>T	c.(508-510)atC>atT	p.I170I		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	170					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTACCTGGGCGATGAGGATGC	0.642000														5			13		0	0	0.000219431	0	0
CFH	3075	broad.mit.edu	37	1	196709892	196709892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:196709892G>A	uc001gtj.4	+	17	3166	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	976	Sushi 16.				complement activation, alternative pathway	extracellular space		p.G975R(1)|p.E976E(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGCTTAGGAGAAAAATGGTC	0.348000														128			34		0	0	0.000953801	0	0
DNM3	26052	broad.mit.edu	37	1	172357867	172357867	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:172357867C>A	uc001gie.3	+	19	2616	c.2440C>A	c.(2440-2442)Cct>Act	p.P814T	DNM3_uc001gif.3_Missense_Mutation_p.P810T|DNM3_uc001gih.1_Missense_Mutation_p.P170T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	820					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCATTACCTCCTTTCCCCAG	0.642000														20			8		0.000157383	0.00205587	0.000157383	1	0
CYP4F12	66002	broad.mit.edu	37	19	15784502	15784502	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:15784502C>A	uc002nbl.3	+	1	282	c.163C>A	c.(163-165)Cca>Aca	p.P55T	CYP4F12_uc010xoo.2_Missense_Mutation_p.P55T|CYP4F12_uc010xop.2_Missense_Mutation_p.P55T	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCACAGCCCCCAAAACGGAA	0.587000														57			12		4.36969e-10	8.55211e-09	0.000151284	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19647594	19647594	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:19647594G>T	uc002ykw.3	-	23	2855	c.2824C>A	c.(2824-2826)Caa>Aaa	p.Q942K		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	942	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCTGCTGTTGGCATCTCTCA	0.398000														78			46		7.05121e-23	2.49099e-21	0.000509022	1	0
PCDH19	57526	broad.mit.edu	37	X	99661580	99661580	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:99661580C>A	uc010nmz.3	-	0	3692	c.2016G>T	c.(2014-2016)atG>atT	p.M672I	PCDH19_uc004efw.4_Missense_Mutation_p.M672I|PCDH19_uc004efx.4_Missense_Mutation_p.M672I	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	672	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACAGAGCCCATTGACTCTT	0.512000														4			16		1.67942e-08	3.00423e-07	0.00074312	1	0
CCDC78	124093	broad.mit.edu	37	16	773117	773117	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:773117C>A	uc002cjg.3	-	11	1284	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L	CCDC78_uc002cjh.3_Missense_Mutation_p.R152L|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA.	393								p.R393Q(2)|p.R393R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GGAGAAGTCCCGGAGCTTCTG	0.642000														24			4		0.000602214	0.00760143	0.000602214	1	0
TTN	7273	broad.mit.edu	37	2	179585273	179585273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:179585273C>T	uc021vsy.1	-	76	19709	c.19484G>A	c.(19483-19485)cGa>cAa	p.R6495Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3156Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7422	Ig-like 46.						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)			AACCTGCTTTCGATCTTTAAC	0.388000														19			16		0	0	0.000308642	0	0
SHC3	53358	broad.mit.edu	37	9	91628367	91628367	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:91628367G>T	uc004aqf.2	-	11	2087	c.1780C>A	c.(1780-1782)Cag>Aag	p.Q594K		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	594				KQ -> NE (in Ref. 2).	Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCAGGTCACTGCTTCCTCTCC	0.602000														28			21		5.26018e-13	1.2159e-11	0.000229342	1	0
RYR3	6263	broad.mit.edu	37	15	34078059	34078059	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:34078059C>A	uc001zhi.3	+	65	9535	c.9465C>A	c.(9463-9465)ccC>ccA	p.P3155P	RYR3_uc010bar.3_Silent_p.P3155P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3155					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTGCCCCCCAGCACAGGGC	0.557000														73			43		1.41504e-22	4.87623e-21	0.000589545	1	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086528	46086528	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:46086528G>T	uc002zfu.3	-	0	317	c.276C>A	c.(274-276)ccC>ccA	p.P92P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	92	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CACACACAATGGGCCTGCAGC	0.627000														34			19		1.01871e-10	2.10372e-09	0.000132079	1	0
TSPAN12	23554	broad.mit.edu	37	7	120478967	120478967	+	Splice_Site	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:120478967C>A	uc003vjk.3	-	4	524	c.150_splice	c.e4-1	p.R50_splice		NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	50					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TTCCTCTACCCTGAAAGAAGA	0.348000														64			36		1.02151e-06	1.57201e-05	0.000491102	1	0
FLI1	2313	broad.mit.edu	37	11	128651878	128651878	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:128651878C>A	uc010sbu.2	+	4	958	c.615C>A	c.(613-615)acC>acA	p.T205T	FLI1_uc010sbt.2_Silent_p.T12T|FLI1_uc010sbv.2_Silent_p.T172T|FLI1_uc009zci.3_Silent_p.T139T	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	205					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)		ATAATACAACCTCCCACACCG	0.423000			T	EWSR1	Ewing sarcoma									75			40		1.33152e-38	5.79779e-37	0.000781405	1	0
FBXO10	26267	broad.mit.edu	37	9	37521655	37521655	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:37521655C>A	uc004aac.3	-	7	2239	c.2159G>T	c.(2158-2160)tGg>tTg	p.W720L	FBXO10_uc004aab.3_Missense_Mutation_p.W704L|FBXO10_uc004aad.3_Missense_Mutation_p.W254L	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	704						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CTCTGTCTCCCAGAGGATGGC	0.542000														62			8		0.000274275	0.00353349	0.000274275	1	0
NWD1	284434	broad.mit.edu	37	19	16899890	16899890	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:16899890G>T	uc002neu.4	+	12	3251	c.2829G>T	c.(2827-2829)caG>caT	p.Q943H	NWD1_uc002net.4_Missense_Mutation_p.Q808H|NWD1_uc002nev.4_Missense_Mutation_p.Q737H|NWD1_uc021uqg.1_Missense_Mutation_p.Q808H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	943							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCTGGCCAGGAGAAATTTA	0.473000														29			27		6.32553e-13	1.45022e-11	0.000720815	1	0
SLIT2	9353	broad.mit.edu	37	4	20598100	20598100	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:20598100T>C	uc003gpr.1	+	31	3587	c.3383T>C	c.(3382-3384)tTt>tCt	p.F1128S	SLIT2_uc003gps.1_Missense_Mutation_p.F1120S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1128	EGF-like 6.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTGATAATTTTGATTGTCAG	0.403000														31			47		0	0	0.000781405	0	0
ATP8B2	57198	broad.mit.edu	37	1	154300326	154300326	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:154300326C>A	uc001fex.3	+	0	51	c.51C>A	c.(49-51)tcC>tcA	p.S17S	ATP8B2_uc001few.3_Intron|ATP8B2_uc001fey.1_5'Flank	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	0					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCTCTTCTCCTTTCCCTACA	0.547000														173			34		6.53348e-20	2.09706e-18	0.000692331	1	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														26			4		0	0	0.00024832	0	0
FCHSD2	9873	broad.mit.edu	37	11	72794770	72794770	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:72794770C>G	uc009ytl.3	-	2	356	c.135G>C	c.(133-135)aaG>aaC	p.K45N	FCHSD2_uc010rrg.2_5'UTR|FCHSD2_uc001oth.4_5'UTR|FCHSD2_uc001oti.2_5'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	45	FCH.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCAGCCTTCTTCTGACTGA	0.348000														165			114		0	0	0.000781405	0	0
EPHB2	2048	broad.mit.edu	37	1	23235514	23235514	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:23235514G>T	uc009vqj.1	+	13	2498	c.2353_splice	c.e13-1	p.G785_splice	EPHB2_uc001bge.3_Splice_Site_p.G786_splice|EPHB2_uc001bgf.3_Splice_Site_p.G785_splice|EPHB2_uc010odu.2_Splice_Site_p.G727_splice	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	785	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTGTCTCCCAGGGCGGAAAGA	0.592000														7			4		0.000602214	0.00760143	0.000602214	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066631	46066631	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:46066631C>A	uc002zfr.4	+	0	301	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	86	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GTCTAGCTGCCAGCCGGCTTG	0.662000														46			25		8.24728e-16	2.20595e-14	0.000720815	1	0
TMEM198	130612	broad.mit.edu	37	2	220412545	220412545	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:220412545C>A	uc002vme.3	+	3	1069	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	TMEM198_uc002vmf.3_Missense_Mutation_p.L162M	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	162	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTCTGTGCCCTGCTCACTCT	0.706000														19			7		0.000157383	0.00205587	0.000157383	1	0
PRSS21	10942	broad.mit.edu	37	16	2868943	2868943	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:2868943G>T	uc002crt.3	+	3	629	c.523G>T	c.(523-525)Ggc>Tgc	p.G175C	PRSS21_uc002crr.3_Missense_Mutation_p.G175C|PRSS21_uc002crs.3_Missense_Mutation_p.G173C	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	175	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	p.G175C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CTGGGTGACTGGCTGGGGGTA	0.557000														25			16		6.49762e-13	1.48362e-11	0.00074312	1	0
FAM20A	54757	broad.mit.edu	37	17	66538276	66538276	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:66538276G>T	uc002jho.3	-	6	1247	c.959C>A	c.(958-960)cCa>cAa	p.P320Q	FAM20A_uc010wqp.2_Missense_Mutation_p.P182Q|FAM20A_uc002jhn.3_Missense_Mutation_p.H23N	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	320						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GCACATGTATGGACACTTGGC	0.602000														35			6		3.59834e-05	0.000496606	3.59834e-05	1	0
CD163L1	283316	broad.mit.edu	37	12	7548983	7548983	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:7548983C>A	uc010sge.2	-	7	1814	c.1788G>T	c.(1786-1788)gtG>gtT	p.V596V	CD163L1_uc001qsy.3_Silent_p.V586V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	586	SRCR 6.					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						TGCTGCCGCCCACCAGCCTCA	0.527000														13			5		1.23904e-05	0.000174428	0.000602214	1	0
TNIP1	10318	broad.mit.edu	37	5	150439957	150439957	+	Splice_Site	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:150439957C>A	uc003lti.3	-	5	599	c.358_splice	c.e5-1	p.G120_splice	TNIP1_uc010jhq.2_Splice_Site_p.G67_splice|TNIP1_uc010jho.2_Splice_Site|TNIP1_uc010jhp.2_Splice_Site_p.G67_splice|TNIP1_uc010jhl.3_Splice_Site|TNIP1_uc010jhn.3_Splice_Site_p.G120_splice|TNIP1_uc010jhm.3_Splice_Site_p.G120_splice|TNIP1_uc010jhr.2_Splice_Site_p.G120_splice|TNIP1_uc011dco.2_Splice_Site_p.G120_splice|TNIP1_uc003ltg.3_Splice_Site_p.G67_splice|TNIP1_uc003ltk.3_Splice_Site_p.G120_splice|TNIP1_uc003ltj.3_Splice_Site_p.G120_splice|TNIP1_uc021ygb.1_Splice_Site_p.G120_splice	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	120	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGAGGTGCCCTGTGCAGAAA	0.577000														22			18		3.51602e-12	7.77538e-11	0.000132079	1	0
FANCD2	2177	broad.mit.edu	37	3	10128860	10128860	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:10128860C>A	uc003buw.3	+	33	3456	c.3378C>A	c.(3376-3378)ccC>ccA	p.P1126P	FANCD2_uc003bux.1_Silent_p.P1126P|FANCD2_uc003buy.1_Silent_p.P1126P|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1126					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGCATTCCCAGTTTCCAGT	0.383000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					116			52		1.11015e-26	4.30049e-25	0.000781405	1	0
TOP1MT	116447	broad.mit.edu	37	8	144408405	144408405	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:144408405C>A	uc003yxz.3	-	3	489	c.470G>T	c.(469-471)aGg>aTg	p.R157M	TOP1MT_uc011lkd.2_Missense_Mutation_p.R59M|TOP1MT_uc011lke.2_Missense_Mutation_p.R59M|TOP1MT_uc011lkf.2_5'Flank|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	157					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CTTCTCCTCCCTGCTCAGGAC	0.592000														22			21		1.87028e-06	2.83164e-05	0.000229342	1	0
FLG	2312	broad.mit.edu	37	1	152279024	152279025	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:152279024_152279025GG>TT	uc001ezu.1	-	2	8373_8374	c.8337_8338CC>AA	c.(8335-8340)tcccaa>tcAAaa	p.Q2780K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2780	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)			TGACCGTCTTGGGATGCTGAGT	0.594000									Ichthyosis					688			19		0	0	6.4e-05	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336503	115336503	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:115336503G>T	uc011lwx.1	+	1	318	c.143G>T	c.(142-144)tGg>tTg	p.W48L	KIAA1958_uc004bgf.1_Missense_Mutation_p.W48L	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	48										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ACAGCAATGTGGGGCTGTAGT	0.507000														18			13		1.49906e-05	0.000210505	0.000219431	1	0
C17orf101	79701	broad.mit.edu	37	17	80361888	80361888	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:80361888G>T	uc002ket.2	-	6	776	c.624C>A	c.(622-624)ccC>ccA	p.P208P	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Silent_p.P208P	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	208	Fe2OG dioxygenase.					integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						AGAAGAAGGTGGGCTTGGTCA	0.622000														18			12		1.61879e-10	3.29448e-09	0.00010058	1	0
HDAC10	83933	broad.mit.edu	37	22	50686181	50686181	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686181C>T	uc003bkg.3	-	13	1735	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Silent_p.E434E|HDAC10_uc003bkh.3_Silent_p.E247E|HDAC10_uc003bkj.3_Intron|HDAC10_uc003bkk.1_Missense_Mutation_p.R126K	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	454					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGGGCCTCCTCCCGGGCCA	0.622000														24			6		0	0	0.000274275	0	0
C6orf15	29113	broad.mit.edu	37	6	31079834	31079834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:31079834G>A	uc003nsk.1	-	1	302	c.302C>T	c.(301-303)tCg>tTg	p.S101L	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	101										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAGCCCCCACGATGGAGGCCA	0.617000														44			23		0	0	0.000229342	0	0
ITGB4	3691	broad.mit.edu	37	17	73745075	73745075	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:73745075G>T	uc002jpg.3	+	26	3452	c.3265G>T	c.(3265-3267)Ggg>Tgg	p.G1089W	ITGB4_uc002jph.3_Missense_Mutation_p.G1089W|ITGB4_uc002jpi.4_Missense_Mutation_p.G1089W|ITGB4_uc002jpj.3_Missense_Mutation_p.G1089W	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1089					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTAAGTTTGGGGCCCACCT	0.637000														33			11		4.3838e-07	6.95588e-06	0.000151284	1	0
KIAA0408	9729	broad.mit.edu	37	6	127775032	127775032	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:127775032C>A	uc011ebs.2	-	1	431	c.95G>T	c.(94-96)tGg>tTg	p.W32L	KIAA0408_uc003qbc.3_Missense_Mutation_p.W32L|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_5'Flank	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	32							protein binding	p.W32L(2)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTGACTTTCCCATTCCTTTCT	0.373000														46			11		9.70103e-10	1.88549e-08	0.000673444	1	0
ALG3	10195	broad.mit.edu	37	3	183966536	183966536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:183966536C>T	uc003fne.2	-	0	224	c.193G>A	c.(193-195)Gca>Aca	p.A65T	ALG3_uc011brc.1_Intron|ALG3_uc011brd.1_Missense_Mutation_p.G42D|ALG3_uc011bre.1_Intron|ALG3_uc011brf.1_Intron|ECE2_uc003fnh.4_5'Flank|ECE2_uc003fni.4_5'Flank	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	65					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTCACATGCCACCCTGTGA	0.662000														25			11		0	0	6.40141e-05	0	0
PEG3	5178	broad.mit.edu	37	19	57328597	57328597	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:57328597G>T	uc002qnu.2	-	6	1564	c.1213C>A	c.(1213-1215)Cac>Aac	p.H405N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H376N|PEG3_uc002qnv.2_Missense_Mutation_p.H405N|PEG3_uc002qnw.2_Missense_Mutation_p.H281N|PEG3_uc002qnx.2_Missense_Mutation_p.H279N|PEG3_uc010etr.2_Missense_Mutation_p.H405N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	405					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H405H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTGATCGTGAATCGAGCCC	0.488000														71			35		1.836e-18	5.45652e-17	0.000692331	1	0
CACYBP	27101	broad.mit.edu	37	1	174979205	174979205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:174979205C>T	uc001gkj.1	+	5	1102	c.677C>T	c.(676-678)aCg>aTg	p.T226M	CACYBP_uc001gki.1_Missense_Mutation_p.T183M	NM_014412	NP_001007215	Q9HB71	CYBP_HUMAN	Homo sapiens calcyclin binding protein (CACYBP), transcript variant 1, mRNA.	226	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.			T -> P (in Ref. 4; AAG23817).		beta-catenin destruction complex	protein homodimerization activity	p.D225N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AAAGGAGACACGGAATTTTGA	0.368000														60			10		0	0	6.40141e-05	0	0
NDST3	9348	broad.mit.edu	37	4	119161824	119161824	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:119161824G>T	uc003ibx.3	+	10	2667	c.2264G>T	c.(2263-2265)tGg>tTg	p.W755L		NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	755	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATCGAGAGATGGCTTGTTTAT	0.463000														23			15		3.52763e-06	5.17355e-05	0.000566183	1	0
NCAPH	23397	broad.mit.edu	37	2	97009953	97009953	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:97009953G>T	uc002svz.1	+	5	790	c.706G>T	c.(706-708)Gat>Tat	p.D236Y	NCAPH_uc010fhu.1_Missense_Mutation_p.D212Y|NCAPH_uc010fhv.1_Missense_Mutation_p.D225Y|NCAPH_uc010yum.1_Missense_Mutation_p.D212Y|NCAPH_uc010yun.1_Missense_Mutation_p.D100Y	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	236					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTCCGAAGCAGATCGGAAGTG	0.468000														40			30		1.99505e-19	6.22567e-18	0.000409698	1	0
ADRB2	154	broad.mit.edu	37	5	148207496	148207496	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:148207496G>T	uc003lpr.2	+	0	1341	c.1102G>T	c.(1102-1104)Gtg>Ttg	p.V368L	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	368					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGGATATCACGTGGAACAGGA	0.517000														36			11		1.33987e-11	2.86162e-10	0.000673444	1	0
NKX3-2	579	broad.mit.edu	37	4	13545655	13545655	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:13545655C>A	uc003gmx.2	-	0	460	c.384G>T	c.(382-384)ccG>ccT	p.P128P		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	128					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GCTCACAGACCGGCTGGCCGA	0.731000														6			5		2.7689e-08	4.84514e-07	8.12818e-05	1	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000														100			5		0	0	0.000602214	0	0
PTPRT	11122	broad.mit.edu	37	20	41385186	41385186	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:41385186G>T	uc002xkg.3	-	5	959	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	PTPRT_uc010ggj.3_Missense_Mutation_p.Q259K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	259	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGCTCCGCTGGGCAGTGTCT	0.602000														17			20		7.41877e-09	1.34423e-07	0.000229342	1	0
GGT7	2686	broad.mit.edu	37	20	33444642	33444642	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:33444642G>T	uc002xay.3	-	7	1112	c.1069C>A	c.(1069-1071)Ctt>Att	p.L357I	GGT7_uc002xaz.1_Missense_Mutation_p.L374I	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	357					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTCTCCACAAGGGCGCTGTAA	0.597000														14			9		3.07112e-06	4.51583e-05	6.40141e-05	1	0
CNGB3	54714	broad.mit.edu	37	8	87680367	87680367	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:87680367C>A	uc003ydx.3	-	4	571	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	CNGB3_uc010maj.3_Nonsense_Mutation_p.E37*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	175					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCATCGCTTTCTTTTACTGGT	0.348000														49			32		2.61193e-14	6.43475e-13	0.000279167	1	0
SMC1B	27127	broad.mit.edu	37	22	45795021	45795021	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:45795021T>G	uc003bgc.3	-	5	1119	c.1067A>C	c.(1066-1068)gAa>gCa	p.E356A	SMC1B_uc003bgd.3_Missense_Mutation_p.E356A|SMC1B_uc003bge.1_Missense_Mutation_p.E139A	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	356					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TAAAATTTCTTCCTCAATCTG	0.373000														190			54		0	0	0.000781405	0	0
PEX6	5190	broad.mit.edu	37	6	42934283	42934283	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:42934283G>T	uc003otf.3	-	9	2167	c.2074C>A	c.(2074-2076)Cag>Aag	p.Q692K	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	692					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCAACGGCCTGGGAGTGAGCT	0.602000														62			21		6.33239e-15	1.63913e-13	0.000175454	1	0
RIMS4	140730	broad.mit.edu	37	20	43399954	43399954	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:43399954G>T	uc010ggu.3	-	1	268	c.201C>A	c.(199-201)tcC>tcA	p.S67S	RIMS4_uc002xms.3_Silent_p.S66S	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	66					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCCTCAATGGACTCGTGGC	0.647000														46			32		8.16721e-17	2.29376e-15	0.000339439	1	0
DCLK1	9201	broad.mit.edu	37	13	36382385	36382386	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:36382385_36382386CC>AA	uc001uvf.3	-	13	2121_2122	c.1838_1839GG>TT	c.(1837-1839)tgg>tTT	p.W613F	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.W306F|DCLK1_uc010teh.2_Missense_Mutation_p.W306F|DCLK1_uc010abk.3_Missense_Mutation_p.W133F	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	613	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAACATTATCCCAGTATGGAGA	0.426000														353			9		0	0	6.4e-05	0	0
ELN	2006	broad.mit.edu	37	7	73452041	73452041	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:73452041G>T	uc003tzw.3	+	3	259	c.168G>T	c.(166-168)ctG>ctT	p.L56L	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Silent_p.L56L|ELN_uc003tzy.3_Silent_p.L46L|ELN_uc003tzz.3_Silent_p.L56L|ELN_uc003tzo.3_Silent_p.L56L|ELN_uc003tzp.3_Silent_p.L46L|ELN_uc003tzq.3_Silent_p.L56L|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.L56L|ELN_uc003tzt.3_Silent_p.L56L|ELN_uc003tzu.3_Silent_p.L56L|ELN_uc003tzv.3_Silent_p.L46L|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.L46L|ELN_uc011kff.2_Silent_p.L56L	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	56					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.A55A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGCAGCGCTGGGGCCTGGAG	0.592000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							14			10		6.40141e-05	0.000870623	6.40141e-05	1	0
ACSM3	6296	broad.mit.edu	37	16	20781506	20781506	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:20781506C>A	uc010vba.2	+	0	201	c.126C>A	c.(124-126)ttC>ttA	p.F42L	ACSM3_uc002dhq.3_Missense_Mutation_p.F50L|ACSM3_uc002dhr.3_Missense_Mutation_p.F50L	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	50					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.S41S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AACAGGACTTCAAACTGGGGA	0.443000														24			26		7.68411e-24	2.80271e-22	0.000227799	1	0
NLRP3	114548	broad.mit.edu	37	1	247587301	247587301	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:247587301G>T	uc001icr.3	+	4	694	c.556G>T	c.(556-558)Gag>Tag	p.E186*	NLRP3_uc001ics.3_Nonsense_Mutation_p.E186*|NLRP3_uc001icu.3_Nonsense_Mutation_p.E186*|NLRP3_uc001icw.3_Nonsense_Mutation_p.E186*|NLRP3_uc001icv.3_Nonsense_Mutation_p.E186*|NLRP3_uc010pyw.2_Nonsense_Mutation_p.E184*|NLRP3_uc001ict.1_Nonsense_Mutation_p.E184*	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	186					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGGGAGCAGGAGCTTCTGGC	0.567000														15			18		8.34094e-07	1.28712e-05	0.000132079	1	0
HDAC10	83933	broad.mit.edu	37	22	50686341	50686341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686341C>T	uc003bkg.3	-	12	1688	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Missense_Mutation_p.E419K|HDAC10_uc003bkh.3_Missense_Mutation_p.E232K|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.E73K	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	439					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGTCTCCTCCCTCAGGGCT	0.647000														8			20		0	0	0.00047179	0	0
TIFAB	497189	broad.mit.edu	37	5	134785550	134785550	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:134785550G>T	uc003law.4	-	1	281	c.80C>A	c.(79-81)cCa>cAa	p.P27Q	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.P27Q	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	27										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGCAGCCGTGGTGGGACATT	0.647000														35			20		9.95505e-16	2.65012e-14	0.000295444	1	0
EDIL3	10085	broad.mit.edu	37	5	83402504	83402504	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:83402504C>A	uc003kio.1	-	5	1033	c.614G>T	c.(613-615)tGg>tTg	p.W205L	EDIL3_uc003kip.1_Missense_Mutation_p.W195L	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	205	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGCAGCTGTCCACGCATTTAT	0.413000														88			9		7.48243e-07	1.17072e-05	0.000442599	1	0
ZNF492	57615	broad.mit.edu	37	19	22847622	22847622	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:22847622A>C	uc002nqw.3	+	3	1395	c.1151A>C	c.(1150-1152)aAg>aCg	p.K384T		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTACACATAAGAGAATTCAT	0.378000														9			5		0	0	0.000673444	0	0
EGF	1950	broad.mit.edu	37	4	110909779	110909779	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:110909779C>A	uc003hzy.4	+	17	3100	c.2648C>A	c.(2647-2649)cCt>cAt	p.P883H	EGF_uc011cfu.2_Missense_Mutation_p.P841H|EGF_uc011cfv.2_Missense_Mutation_p.P883H|EGF_uc010imk.3_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	883	EGF-like 7; calcium-binding (Potential).				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTGTGCCCCCCTGCCTCCTCC	0.473000														132			16		3.45872e-05	0.000479694	0.000422831	1	0
CTSS	1520	broad.mit.edu	37	1	150720281	150720281	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:150720281C>A	uc001evn.3	-	6	1129	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	CTSS_uc010pcj.2_Missense_Mutation_p.G240W	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	290					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TATTCTTTCCCATTAAGATCA	0.358000														49			82		1.55521e-42	6.93302e-41	0.000781405	1	0
TCEA3	6920	broad.mit.edu	37	1	23720379	23720379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:23720379G>A	uc021oig.1	-	7	947	c.812C>T	c.(811-813)aCg>aTg	p.T271M	TCEA3_uc009vqm.2_Missense_Mutation_p.T40M	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	271	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CACCTCTGCCGTCATCTTGGC	0.637000														6			15		0	0	0.000219431	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55518520	55518520	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:55518520G>T	uc001xbq.1	+	1	160	c.-4_splice	c.e1+1			NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.											endometrium(2)|large_intestine(1)|lung(3)	6						GGATATTGCCGGGTGAGGCTG	0.682000														35			23		6.55177e-30	2.62866e-28	0.000184323	1	0
RICTOR	253260	broad.mit.edu	37	5	38963125	38963125	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:38963125C>G	uc003jlo.2	-	16	1441	c.1419G>C	c.(1417-1419)ttG>ttC	p.L473F	RICTOR_uc003jlp.2_Missense_Mutation_p.L473F|RICTOR_uc010ivf.2_Missense_Mutation_p.L188F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	473					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding	p.A472A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTAAACAGTTCAAGGCTGCAC	0.353000														108			44		0	0	0.000437636	0	0
CEACAM19	56971	broad.mit.edu	37	19	45183602	45183602	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:45183602T>G	uc002ozo.4	+	4	1182	c.702T>G	c.(700-702)gaT>gaG	p.D234E	CEACAM19_uc002ozp.4_Missense_Mutation_p.D234E	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	234						integral to membrane		p.D234Y(1)|p.H233R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTGCTCATGATGCTGGTAAGG	0.557000														139			75		0	0	0.000781405	0	0
TRPC4	7223	broad.mit.edu	37	13	38211448	38211448	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:38211448G>A	uc010abx.3	-	10	2776	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	TRPC4_uc010abv.3_Silent_p.I422I|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Silent_p.I842I|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Silent_p.I669I|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	842	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAAAGTTTTTGATATCGGTCA	0.428000														125			21		0	0	0.000175454	0	0
FREM2	341640	broad.mit.edu	37	13	39266448	39266448	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:39266448C>A	uc001uwv.3	+	0	5276	c.4967C>A	c.(4966-4968)cCc>cAc	p.P1656H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1656					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGTGTCCCCCAAATCGCA	0.483000														393			30		3.57733e-08	6.14491e-07	0.000279167	1	0
UGT2B10	7365	broad.mit.edu	37	4	69879764	69879764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:69879764C>T	uc011cao.1	-	4	970	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	UGT2B10_uc011can.1_Missense_Mutation_p.A198T			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	326					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						TTGGCAAGGGCTGTTGCAATT	0.428000														101			25		0	0	0.000720815	0	0
SYN3	8224	broad.mit.edu	37	22	32929779	32929779	+	Splice_Site	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:32929779C>T	uc003amx.3	-	9	1257	c.1095_splice	c.e9+1	p.E365_splice	SYN3_uc003amy.3_Splice_Site_p.E365_splice|SYN3_uc003amz.3_Splice_Site_p.E364_splice	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	365	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CATCCCTCACCTCGATGATGT	0.602000														60			10		0	0	6.40141e-05	0	0
OR2F2	135948	broad.mit.edu	37	7	143633062	143633062	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:143633062C>A	uc011ktv.2	+	0	737	c.737C>A	c.(736-738)aCg>aAg	p.T246K		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTCACCTCACGGTGGTTGCC	0.517000														27			22		7.87624e-14	1.91519e-12	0.000375601	1	0
SCAPER	49855	broad.mit.edu	37	15	76668513	76668513	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:76668513G>T	uc002bby.3	-	27	3904	c.3845C>A	c.(3844-3846)cCa>cAa	p.P1282Q	SCAPER_uc010bkr.3_Intron|SCAPER_uc002bbx.3_Missense_Mutation_p.P1036Q	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1281						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTGGTTATCTGGGTGGTTGAC	0.557000														36			13		4.93089e-13	1.14925e-11	0.000219431	1	0
UBAP2L	9898	broad.mit.edu	37	1	154227725	154227725	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:154227725C>A	uc001fep.4	+	16	2174	c.2007C>A	c.(2005-2007)acC>acA	p.T669T	UBAP2L_uc009wot.3_Silent_p.T669T|UBAP2L_uc010pek.2_Silent_p.T661T|UBAP2L_uc010pel.2_Silent_p.T679T|UBAP2L_uc010pen.2_Silent_p.T583T|UBAP2L_uc001feq.3_5'UTR|UBAP2L_uc001fer.3_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	669					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGACGACAACCAATCAGCATT	0.502000														50			114		2.51308e-46	1.14764e-44	0.000781405	1	0
EGFR	1956	broad.mit.edu	37	7	55272965	55272965	+	Silent	SNP	C	A	A	rs143770509		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:55272965C>A	uc003tqk.3	+	27	3534	c.3288C>A	c.(3286-3288)tcC>tcA	p.S1096S	EGFR_uc022adn.1_Silent_p.S1051S|EGFR_uc011kco.2_Silent_p.S1043S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1096					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAAACCAGTCCGTTCCCAAAA	0.527000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				17			9		2.74318e-10	5.50301e-09	0.000442599	1	0
PEG3	5178	broad.mit.edu	37	19	57328938	57328938	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:57328938G>T	uc002qnu.2	-	6	1223	c.872C>A	c.(871-873)aCt>aAt	p.T291N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T262N|PEG3_uc002qnv.2_Missense_Mutation_p.T291N|PEG3_uc002qnw.2_Missense_Mutation_p.T167N|PEG3_uc002qnx.2_Missense_Mutation_p.T165N|PEG3_uc010etr.2_Missense_Mutation_p.T291N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	291					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K290K(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCAGGCATAGTTTTTAGACC	0.463000														64			42		1.51926e-22	5.20345e-21	0.000781405	1	0
FCGBP	8857	broad.mit.edu	37	19	40420122	40420122	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:40420122C>A	uc002omp.4	-	5	2880	c.2872G>T	c.(2872-2874)Ggg>Tgg	p.G958W		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	958	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCACCTGCCCATCTGCTGCT	0.587000														22			9		2.27111e-07	3.67632e-06	0.00010058	1	0
KRT83	3889	broad.mit.edu	37	12	52710738	52710738	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52710738G>T	uc001saf.2	-	4	883	c.820C>A	c.(820-822)Ctg>Atg	p.L274M		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	274	Linker 12.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCATGTTCAGGTCCCGGCTG	0.572000														59			36		1.07637e-12	2.44775e-11	0.000953801	1	0
IL37	27178	broad.mit.edu	37	2	113675292	113675292	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:113675292G>T	uc002tij.3	+	3	388	c.346G>T	c.(346-348)Ggg>Tgg	p.G116W	IL37_uc002tim.3_Missense_Mutation_p.G55W|IL37_uc002tik.3_Missense_Mutation_p.G95W|IL37_uc002til.3_Missense_Mutation_p.G76W|IL37_uc002tin.3_Missense_Mutation_p.G90W	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	116					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GGTCTCTAAAGGGGAGTTTTG	0.483000														44			36		2.05212e-20	6.7016e-19	0.000191422	1	0
CA10	56934	broad.mit.edu	37	17	49708945	49708945	+	Nonstop_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:49708945C>A	uc002itv.4	-	9	1741	c.1005G>T	c.(1003-1005)taG>taT	p.*335Y	CA10_uc002itw.4_Nonstop_Mutation_p.*329Y|CA10_uc002itx.4_Nonstop_Mutation_p.*329Y|CA10_uc002ity.4_Nonstop_Mutation_p.*329Y	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GCTTTGTTCCCTACTTGAGGA	0.398000														66			93		7.35649e-22	2.50433e-20	0.000781405	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161018682	161018682	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:161018682C>A	uc001fxl.3	-	11	2475	c.2129G>T	c.(2128-2130)aGg>aTg	p.R710M	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R556M|ARHGAP30_uc009wtx.3_Missense_Mutation_p.R383M	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	710	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R710M(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGTCTCTTCCCTACTCCCTTC	0.527000														240			67		1.8337e-62	8.58326e-61	0.000781405	1	0
EPS8	2059	broad.mit.edu	37	12	15784514	15784514	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:15784514G>T	uc009zif.3	-	17	2000	c.1906C>A	c.(1906-1908)Ccc>Acc	p.P636T	EPS8_uc001rdb.3_Missense_Mutation_p.P636T|EPS8_uc009zig.3_Missense_Mutation_p.P376T|EPS8_uc010shv.2_Missense_Mutation_p.P376T	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	636	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGGGGAAGGGGAACAGGAACA	0.507000														44			16		1.67942e-08	3.00423e-07	0.00074312	1	0
NEFM	4741	broad.mit.edu	37	8	24771612	24771612	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:24771612G>A	uc003xed.4	+	0	339	c.306G>A	c.(304-306)aaG>aaA	p.K102K	NEFM_uc011lac.1_Silent_p.K102K|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	102	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAACGAGAAGGAGCAGCTGC	0.632000														13			6		0	0	0.000157383	0	0
abParts	0	broad.mit.edu	37	22	23029766	23029766	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:23029766G>T	uc021wml.1	+	180		c.9725_splice	c.e180-1		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		CAAGCAGACAGGGAAGTGAGA	0.517000														56			13		4.3838e-07	6.95588e-06	0.000151284	1	0
LRP1	4035	broad.mit.edu	37	12	57566963	57566963	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:57566963C>A	uc001snd.3	+	20	3642	c.3176C>A	c.(3175-3177)cCt>cAt	p.P1059H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1059					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P1058T(3)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGAGGCCCCCTGGTGGCTGC	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			10		1.61879e-10	3.29448e-09	0.00010058	1	0
CLDN17	26285	broad.mit.edu	37	21	31538470	31538470	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:31538470C>A	uc011acv.2	-	0	502	c.466G>T	c.(466-468)Ggt>Tgt	p.G156C		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	156					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CGTTTCTGACCTATGTGGATG	0.517000														34			26		4.26978e-12	9.36849e-11	0.00047179	1	0
KIF3B	9371	broad.mit.edu	37	20	30904662	30904662	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:30904662G>T	uc002wxq.3	+	4	1913	c.1733G>T	c.(1732-1734)aGg>aTg	p.R578M	KIF3B_uc010ztw.2_Missense_Mutation_p.R516M	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	578					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCTCACCAGGGAGCTGAAA	0.512000														51			7		0.000157383	0.00205587	0.000157383	1	0
ZRANB3	84083	broad.mit.edu	37	2	136033229	136033229	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:136033229T>G	uc002tum.3	-	8	1180	c.1063A>C	c.(1063-1065)Aca>Cca	p.T355P	ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.T355P|ZRANB3_uc002tun.1_Missense_Mutation_p.T295P	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	355	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ACTGCTTCTGTGCAAGCTTGG	0.328000														27			9		0	0	6.40141e-05	0	0
TULP3	7289	broad.mit.edu	37	12	3029954	3029954	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:3029954G>T	uc001qlj.2	+	2	200	c.119G>T	c.(118-120)aGg>aTg	p.R40M	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_Intron|TULP3_uc010seh.1_Missense_Mutation_p.R40M|TULP3_uc010sei.1_Intron	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	40					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AAGAGGCAAAGGAAAAAGCGC	0.507000														58			40		8.04919e-23	2.80822e-21	0.000781405	1	0
EPM2AIP1	9852	broad.mit.edu	37	3	37034262	37034262	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:37034262C>A	uc003cgk.3	-	0	534	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	103						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CGGCAGAGCCCGAGGCCTGCA	0.667000														46			54		2.12129e-23	7.68727e-22	0.000781405	1	0
PPP1R1A	5502	broad.mit.edu	37	12	54974740	54974740	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:54974740C>A	uc001sgg.2	-	5	669	c.498G>T	c.(496-498)aaG>aaT	p.K166N		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA.	166	Interaction with PPP1R15A.				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						AGTTGGCTCCCTTGGAATCCA	0.512000														97			72		2.08929e-35	8.95841e-34	0.000781405	1	0
FOXN3	1112	broad.mit.edu	37	14	89628893	89628893	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:89628893G>T	uc001xxo.4	-	6	1475	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	FOXN3_uc001xxn.4_Silent_p.P424P|FOXN3_uc010atk.3_Silent_p.P424P	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	446					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|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|protein C-terminus 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(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATCGCTCTCGGGGGGCTTTT	0.582000														22			12		9.31168e-06	0.000134457	0.000151284	1	0
IQCG	84223	broad.mit.edu	37	3	197670838	197670838	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:197670838G>T	uc003fyo.3	-	2	239	c.93C>A	c.(91-93)acC>acA	p.T31T	IQCG_uc003fyp.3_Silent_p.T31T|IQCG_uc003fyq.4_Silent_p.T31T	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	31								p.T31T(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTTCTTCTACGGTACTAGGTG	0.453000														180			9		0.000442599	0.00567598	0.000442599	1	0
UNC5B	219699	broad.mit.edu	37	10	73057728	73057728	+	Silent	SNP	G	T	T	rs143540096		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:73057728G>T	uc001jro.3	+	15	3004	c.2553G>T	c.(2551-2553)ctG>ctT	p.L851L	UNC5B_uc001jrp.3_Silent_p.L840L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	851				L -> P (in Ref. 3; BAB14276).	apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCACCCAGCTGGGACCTTATG	0.602000														47			8		1.12685e-05	0.000161057	0.000274275	1	0
TCHH	7062	broad.mit.edu	37	1	152082741	152082741	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:152082741C>A	uc009wne.1	-	2	3224	c.2952G>T	c.(2950-2952)caG>caT	p.Q984H	TCHH_uc001ezp.2_Missense_Mutation_p.Q984H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	984	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcccgctcctggcgccttc	0.577000														44			85		1.81475e-65	8.56593e-64	0.000781405	1	0
PCLO	27445	broad.mit.edu	37	7	82582386	82582386	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:82582386G>T	uc003uhx.2	-	4	8172	c.7883C>A	c.(7882-7884)gCt>gAt	p.A2628D	PCLO_uc003uhv.2_Missense_Mutation_p.A2628D|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2559					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						AATTTCTACAGCTGTCACAGG	0.448000														74			14		3.27435e-08	5.64173e-07	0.000219431	1	0
HDAC10	83933	broad.mit.edu	37	22	50686339	50686339	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686339C>T	uc003bkg.3	-	12	1690	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Silent_p.E419E|HDAC10_uc003bkh.3_Silent_p.E232E|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Silent_p.E73E	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	439					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTGTCTCCTCCCTCAGGG	0.647000														9			19		0	0	0.000375601	0	0
HDAC10	83933	broad.mit.edu	37	22	50686488	50686488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686488C>T	uc003bkg.3	-	12	1541	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	HDAC10_uc010hav.3_Missense_Mutation_p.A370T|HDAC10_uc003bkh.3_Missense_Mutation_p.A183T|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.A24T	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	390					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGCAGCTGCCTTACACACT	0.652000														11			36		0	0	0.00058488	0	0
SLC27A3	11000	broad.mit.edu	37	1	153748448	153748448	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:153748448G>T	uc001fcz.3	+	0	681	c.616G>T	c.(616-618)Gga>Tga	p.G206*	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	206					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGGTGGAGGAGCCGCCGC	0.726000														9			5		0.000602214	0.00760143	0.000602214	1	0
CERK	64781	broad.mit.edu	37	22	47086075	47086075	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:47086075A>G	uc003bia.3	-	11	1462	c.1355T>C	c.(1354-1356)gTt>gCt	p.V452A	CERK_uc010hae.3_Missense_Mutation_p.V254A	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	452					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGCGATAAACTTCAACAAA	0.517000														310			23		0	0	0.00047179	0	0
TCERG1L	256536	broad.mit.edu	37	10	133106588	133106588	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:133106588G>T	uc001lkp.3	-	2	642	c.556C>A	c.(556-558)Cat>Aat	p.H186N		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	186										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCATGCCCATGGAAAAACCTT	0.493000														41			16		1.99824e-07	3.25336e-06	0.000566183	1	0
GLI2	2736	broad.mit.edu	37	2	121736037	121736037	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:121736037G>T	uc010flp.3	+	8	1426	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	GLI2_uc002tmq.1_Nonsense_Mutation_p.E138*|GLI2_uc002tmr.1_Nonsense_Mutation_p.E121*|GLI2_uc002tmt.4_Nonsense_Mutation_p.E138*|GLI2_uc002tmu.4_Nonsense_Mutation_p.E121*|GLI2_uc002tmw.1_Nonsense_Mutation_p.E449*	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	466					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CATCCACGGGGAGAAGAAGGA	0.632000														65			34		3.33393e-15	8.7508e-14	0.000953801	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933495	209933495	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:209933495C>A	uc001hho.3	+	2	531	c.111C>A	c.(109-111)ccC>ccA	p.P37P	TRAF3IP3_uc001hhm.2_Silent_p.P37P|TRAF3IP3_uc001hhn.3_Silent_p.P37P|TRAF3IP3_uc009xcr.3_Silent_p.P37P	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	37						integral to membrane	protein binding	p.R36S(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCTGCCGTCCCAATGTGACCA	0.632000														34			11		3.07112e-06	4.51583e-05	6.40141e-05	1	0
FGD1	2245	broad.mit.edu	37	X	54472556	54472556	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:54472556G>T	uc004dtg.3	-	17	3606	c.2872C>A	c.(2872-2874)Cga>Aga	p.R958R		NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	958					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTTGTCTCGGGTCTGGGGG	0.632000														1			4		4.096e-09	7.54335e-08	3.59834e-05	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140214949	140214949	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:140214949C>A	uc003lhq.2	+	0	981	c.981C>A	c.(979-981)ttC>ttA	p.F327L	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_uc011dac.2_Missense_Mutation_p.F327L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	342	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)			ATAAAGGCTTCCCACCCCTGG	0.478000														32			16		7.21436e-19	2.17866e-17	0.000132079	1	0
ODF2L	57489	broad.mit.edu	37	1	86852689	86852689	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:86852689C>A	uc001dll.2	-	1	384	c.22G>T	c.(22-24)Gga>Tga	p.G8*	ODF2L_uc001dlp.3_Nonsense_Mutation_p.G8*|ODF2L_uc010osg.2_Nonsense_Mutation_p.G8*|ODF2L_uc001dlm.2_Nonsense_Mutation_p.G8*|ODF2L_uc021opg.1_5'UTR|ODF2L_uc001dlq.2_Intron|ODF2L_uc009wcr.2_Intron	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	8						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GAATGACTTCCATCATTTACA	0.368000														31			25		3.01185e-09	5.56498e-08	0.000586117	1	0
FOXRED1	55572	broad.mit.edu	37	11	126142894	126142894	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:126142894G>T	uc001qdi.3	+	2	504	c.337G>T	c.(337-339)Ggt>Tgt	p.G113C	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_5'UTR|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Missense_Mutation_p.G99C|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	113						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GCTCTCAGTAGGTGGGATTTG	0.463000														40			34		2.66277e-13	6.28435e-12	0.000270559	1	0
PARP8	79668	broad.mit.edu	37	5	50129836	50129836	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:50129836C>A	uc003jon.4	+	24	2513	c.2331C>A	c.(2329-2331)tcC>tcA	p.S777S	PARP8_uc011cpz.2_Silent_p.S669S|PARP8_uc003joo.3_Silent_p.S777S|PARP8_uc003jop.3_Silent_p.S735S	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	777	PARP catalytic.		S -> A (in a colorectal cancer sample; somatic mutation).			intracellular	NAD+ ADP-ribosyltransferase activity	p.S777A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GACAGCAATCCCAATTCCTGC	0.323000														52			16		4.96729e-08	8.37876e-07	0.000132079	1	0
IGSF5	150084	broad.mit.edu	37	21	41165479	41165479	+	Missense_Mutation	SNP	C	A	A	rs148668253		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:41165479C>A	uc002yyo.3	+	7	1170	c.1067C>A	c.(1066-1068)cCc>cAc	p.P356H		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	356						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)				TCTCTCCCTCCCAAATCCTGT	0.423000														107			40		3.86236e-30	1.56078e-28	0.000781405	1	0
STC2	8614	broad.mit.edu	37	5	172744956	172744956	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:172744956G>T	uc003mco.1	-	3	2113	c.803C>A	c.(802-804)cCa>cAa	p.P268Q	STC2_uc003mcn.1_Missense_Mutation_p.P183Q	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	268					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGGGCGTTTGGGTGGCTCTT	0.637000														43			22		1.55469e-16	4.25986e-15	0.00047179	1	0
MED25	81857	broad.mit.edu	37	19	50333347	50333347	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:50333347G>T	uc002ppw.2	+	6	754	c.691G>T	c.(691-693)Ggg>Tgg	p.G231W	MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_Missense_Mutation_p.G12W	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	231	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCTCTCAGTTGGGGGTGGCTC	0.622000														65			34		5.71845e-15	1.48706e-13	0.000191422	1	0
MYO6	4646	broad.mit.edu	37	6	76540194	76540194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:76540194C>T	uc003pih.1	+	4	602	c.323C>T	c.(322-324)tCt>tTt	p.S108F	MYO6_uc003pig.1_Missense_Mutation_p.S108F|MYO6_uc003pii.1_Missense_Mutation_p.S108F	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	108	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAATATATTCTTCAGAAGCA	0.308000														81			40		0	0	0.000270559	0	0
CCR2	729230	broad.mit.edu	37	3	46399343	46399343	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:46399343G>T	uc003cpn.4	+	1	810	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	CCR2_uc003cpm.4_Missense_Mutation_p.G109W|CCR2_uc021wxa.1_Missense_Mutation_p.G109W	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	109					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGGTCTTTGGGAATGCAAT	0.443000														192			163		6.78324e-72	3.25654e-70	0.000781405	1	0
NOX5	79400	broad.mit.edu	37	15	69339775	69339775	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:69339775G>T	uc002ars.2	+	11	1756	c.1715G>T	c.(1714-1716)gGg>gTg	p.G572V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.G526V|NOX5_uc002arp.2_Missense_Mutation_p.G554V|NOX5_uc010bid.2_Missense_Mutation_p.G537V|NOX5_uc010bie.2_Missense_Mutation_p.G372V|NOX5_uc002arr.2_Missense_Mutation_p.G544V|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.	572	FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGGCCTTATGGGACCCCCACC	0.597000														43			11		1.08611e-07	1.79431e-06	6.40141e-05	1	0
CPZ	8532	broad.mit.edu	37	4	8613821	8613821	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:8613821G>T	uc003glm.3	+	7	1469	c.1295G>T	c.(1294-1296)aGg>aTg	p.R432M	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R421M|CPZ_uc003gln.3_Missense_Mutation_p.R295M	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	432					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.N431N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCGGAGAATAGGTGTGGAGGC	0.587000														37			8		5.18039e-06	7.53841e-05	0.000157383	1	0
AGRN	375790	broad.mit.edu	37	1	979052	979052	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:979052C>A	uc001ack.2	+	8	1788	c.1738C>A	c.(1738-1740)Ctg>Atg	p.L580M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	580	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGAGTGCATGCTGCACGTGCA	0.701000														33			14		2.23348e-06	3.34546e-05	0.000422831	1	0
APOB	338	broad.mit.edu	37	2	21235013	21235014	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:21235013_21235014CC>AA	uc002red.3	-	25	4854_4855	c.4726_4727GG>TT	c.(4726-4728)ggg>TTg	p.G1576L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1576					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1576W(4)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTATACTTCCCATTGGTGTCA	0.416000														443			11		0	0	6.4e-05	0	0
DNAH2	146754	broad.mit.edu	37	17	7722560	7722560	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:7722560C>A	uc002giu.1	+	70	10863	c.10849C>A	c.(10849-10851)Ctg>Atg	p.L3617M	DNAH2_uc010cnm.1_Missense_Mutation_p.L555M	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3617					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)				GGCATCAATCCTGTTCTTCGT	0.582000														9			27		8.88839e-20	2.83671e-18	0.000339439	1	0
TF	7018	broad.mit.edu	37	3	133473449	133473449	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:133473449G>T	uc003epu.2	+	8	2164	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	TF_uc011bls.1_Missense_Mutation_p.G146W|TF_uc011blt.2_Missense_Mutation_p.G19W|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.G146W	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	146	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CAGGTCCGCTGGGTGGAACAT	0.527000														94			98		4.73232e-52	2.19682e-50	0.000781405	1	0
LAIR1	3903	broad.mit.edu	37	19	54872569	54872569	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:54872569G>T	uc002qfk.1	-	2	628	c.318C>A	c.(316-318)ccC>ccA	p.P106P	LAIR1_uc002qfl.1_Silent_p.P106P|LAIR1_uc002qfm.1_Silent_p.P105P|LAIR1_uc002qfn.1_Silent_p.P105P|LAIR1_uc010yex.2_Silent_p.P99P|LAIR1_uc002qfo.3_Silent_p.P88P	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	106	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACCATTTAGGGGGCTTATAAT	0.542000														57			38		2.75727e-19	8.46317e-18	0.000953801	1	0
ADCK5	203054	broad.mit.edu	37	8	145617999	145617999	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:145617999G>T	uc003zch.3	+	13	1583	c.1529G>T	c.(1528-1530)cGg>cTg	p.R510L	ADCK5_uc003zci.3_Missense_Mutation_p.R99L	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	510						integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGGCTGTCCGGGGCTGGAGC	0.692000														6			5		1.23904e-05	0.000174428	0.000602214	1	0
ETV6	2120	broad.mit.edu	37	12	12022795	12022795	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:12022795G>T	uc001qzz.3	+	4	1175	c.901G>T	c.(901-903)Ggg>Tgg	p.G301W	ETV6_uc001raa.1_Missense_Mutation_p.G94W	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	301						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GCATAGGGAAGGGAAGCCCAT	0.592000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									42			31		7.11191e-15	1.82409e-13	0.000491102	1	0
MUC4	4585	broad.mit.edu	37	3	195492275	195492275	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:195492275G>T	uc021xjp.1	-	8	13820	c.13664C>A	c.(13663-13665)cCc>cAc	p.P4555H	MUC4_uc003fuz.3_Missense_Mutation_p.P153H|MUC4_uc003fva.3_Missense_Mutation_p.P35H|MUC4_uc003fvb.3_Missense_Mutation_p.P71H|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.P71H|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.P64H|MUC4_uc021xjn.1_Missense_Mutation_p.P244H|MUC4_uc021xjo.1_Missense_Mutation_p.P35H|MUC4_uc021xjg.1_Missense_Mutation_p.P35H|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.P119H|MUC4_uc021xjj.1_Missense_Mutation_p.P119H|MUC4_uc021xjk.1_Missense_Mutation_p.P296H|MUC4_uc021xjl.1_Missense_Mutation_p.P35H|MUC4_uc003fvo.3_Missense_Mutation_p.P319H|MUC4_uc003fvp.3_Missense_Mutation_p.P268H	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1312					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGGTAGTTGGGCCTTTCTTC	0.652000														35			10		1.76689e-08	3.10145e-07	0.000442599	1	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273406	145273407	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:145273406_145273407GG>TT	uc001emn.4	+	2	630_631	c.260_261GG>TT	c.(259-261)cgg>cTT	p.R87L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.R87L|NOTCH2NL_uc001emo.2_Missense_Mutation_p.R87L|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	87	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.R87L(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ATGCTCAGCCGGGATACCTATG	0.495000														820			14		0	0	6.4e-05	0	0
PCDH1	5097	broad.mit.edu	37	5	141236886	141236886	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:141236886G>T	uc003llp.3	-	3	3367	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCTCAGGCAGGGCCAGGGGA	0.627000														22			10		1.08611e-07	1.79431e-06	6.40141e-05	1	0
VPRBP	9730	broad.mit.edu	37	3	51440667	51440667	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:51440667C>A	uc003dbe.2	-	22	4401	c.4216G>T	c.(4216-4218)Gag>Tag	p.E1406*	VPRBP_uc021wys.1_Nonsense_Mutation_p.E1405*|VPRBP_uc003dbf.1_Nonsense_Mutation_p.E735*	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	1459	Asp/Glu-rich (acidic).				interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCTAGCTCCTCATCAGAGGGA	0.532000														22			10		2.80697e-09	5.20356e-08	6.40141e-05	1	0
FGF9	2254	broad.mit.edu	37	13	22255252	22255252	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:22255252G>T	uc001uog.2	+	1	1186	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	117					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ACTCTACCTCGGGATGAATGA	0.488000														53			25		1.68575e-08	3.00599e-07	0.000184323	1	0
HDAC10	83933	broad.mit.edu	37	22	50686864	50686864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686864C>T	uc003bkg.3	-	10	1317	c.944G>A	c.(943-945)tGc>tAc	p.C315Y	HDAC10_uc010hav.3_Missense_Mutation_p.C295Y|HDAC10_uc003bkh.3_Intron|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_5'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	315	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TACTGTCATGCACACTGACTC	0.657000														10			27		0	0	0.000491102	0	0
MAPK3	5595	broad.mit.edu	37	16	30128225	30128225	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:30128225G>T	uc002dws.3	-	6	1107	c.1007C>A	c.(1006-1008)cCg>cAg	p.P336Q	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Missense_Mutation_p.P222Q|MAPK3_uc002dwv.4_Missense_Mutation_p.P292Q|MAPK3_uc002dwt.3_Missense_Mutation_p.P336Q	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	336					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CTCATCCGTCGGGTCATAGTA	0.632000														78			5		0.000602214	0.00760143	0.000602214	1	0
TNRC6B	23112	broad.mit.edu	37	22	40704566	40704566	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:40704566G>T	uc011aor.2	+	15	4382	c.4171G>T	c.(4171-4173)Gga>Tga	p.G1391*	TNRC6B_uc003aym.3_Nonsense_Mutation_p.G587*|TNRC6B_uc003ayn.4_Nonsense_Mutation_p.G1281*|TNRC6B_uc003ayo.3_Nonsense_Mutation_p.G1138*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1391					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GAAGGAGGCTGGAACCGAGTC	0.498000														25			52		6.60958e-23	2.34975e-21	0.000781405	1	0
ATRN	8455	broad.mit.edu	37	20	3556568	3556568	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:3556568C>A	uc002wim.2	+	12	2277	c.2187C>A	c.(2185-2187)ccC>ccA	p.P729P	ATRN_uc002wil.2_Silent_p.P729P|ATRN_uc021vzz.1_Silent_p.P613P	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	729	PSI 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTGTGTCCCCAGGAACCACA	0.458000														28			17		3.41278e-10	6.79773e-09	0.000566183	1	0
ZNF462	58499	broad.mit.edu	37	9	109687519	109687519	+	Silent	SNP	C	A	A	rs144393411		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:109687519C>A	uc004bcz.3	+	2	1615	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P290P|ZNF462_uc004bda.3_Silent_p.P290P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	442					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TCCAGTGCCCCTTTTGTCCTT	0.463000														90			16		1.40151e-16	3.87797e-15	0.000175454	1	0
CASS4	57091	broad.mit.edu	37	20	55012539	55012539	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:55012539G>T	uc002xxp.2	+	2	581	c.356G>T	c.(355-357)tGg>tTg	p.W119L	CASS4_uc002xxq.4_Missense_Mutation_p.W119L|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Missense_Mutation_p.W119L|CASS4_uc010gio.2_Missense_Mutation_p.W119L	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	119					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATGAGGAGTTGGGCGGAGGGG	0.592000														76			45		8.04919e-23	2.80822e-21	0.000781405	1	0
FAM117B	150864	broad.mit.edu	37	2	203622026	203622026	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:203622026G>T	uc010zhx.2	+	5	1205	c.1195G>T	c.(1195-1197)Ggg>Tgg	p.G399W		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	399										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GACGCCTGGTGGGGCAGACAG	0.562000														193			98		2.99567e-70	1.42599e-68	0.000781405	1	0
NR3C2	4306	broad.mit.edu	37	4	149075847	149075847	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:149075847C>A	uc003ilj.4	-	4	2583	c.2220G>T	c.(2218-2220)atG>atT	p.M740I	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	740	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.V739F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTCAAGGACCATAACGGGGG	0.502000														97			47		6.08268e-21	2.02168e-19	0.000781405	1	0
CLP1	10978	broad.mit.edu	37	11	57427470	57427470	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:57427470C>A	uc001nkw.3	+	1	661	c.522C>A	c.(520-522)gtC>gtA	p.V174V	CLP1_uc010rjw.2_Intron|CLP1_uc009yml.3_Silent_p.V174V	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	174					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CTGCAGATGTCGAAGAGGGTT	0.547000														13			11		1.58986e-06	2.4267e-05	0.000673444	1	0
MYH10	4628	broad.mit.edu	37	17	8408088	8408088	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:8408088A>C	uc002glm.3	-	27	3619	c.3523T>G	c.(3523-3525)Ttg>Gtg	p.L1175V	MYH10_uc002gll.3_Missense_Mutation_p.L1144V|MYH10_uc010cnx.3_Missense_Mutation_p.L1153V	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1144					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCACTCAAGTCCCTTTTC	0.527000														29			31		0	0	0.000409698	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22864188	22864188	+	Splice_Site	SNP	T	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:22864188T>C	uc001yuq.2	+	16	2275	c.2145_splice	c.e16-1	p.R715_splice	TUBGCP5_uc001yur.4_Splice_Site_p.R715_splice	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	715					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCCATTCAGGTTGGTAGAATA	0.363000														31			22		0	0	0.00047179	0	0
MARK1	4139	broad.mit.edu	37	1	220826477	220826477	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:220826477G>T	uc009xdw.3	+	15	2371	c.1774G>T	c.(1774-1776)Gct>Tct	p.A592S	MARK1_uc001hmn.4_Missense_Mutation_p.A591S|MARK1_uc010pun.2_Missense_Mutation_p.A591S|MARK1_uc001hmm.4_Missense_Mutation_p.A569S	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	591					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTCCCCATCTGCTCACAGTAT	0.498000														60			15		2.23348e-06	3.34546e-05	0.000422831	1	0
BCL11A	53335	broad.mit.edu	37	2	60687604	60687605	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:60687604_60687605GG>TT	uc002sae.1	-	3	2670_2671	c.2442_2443CC>AA	c.(2440-2445)accctg>acAAtg	p.L815M	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.L663M|BCL11A_uc002saf.1_Missense_Mutation_p.L781M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	815					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTTTCTCCAGGGTACTGTACA	0.426000			T	IGH@	B-CLL									449			14		0	0	6.4e-05	0	0
TMEM66	51669	broad.mit.edu	37	8	29923607	29923607	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:29923607G>T	uc003xhs.3	-	4	1075	c.891C>A	c.(889-891)ccC>ccA	p.P297P	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Silent_p.P125P	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	297						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CAGGGTAGGAGGGAGGATAGG	0.478000														39			12		4.36969e-10	8.55211e-09	0.000151284	1	0
RGR	5995	broad.mit.edu	37	10	86012746	86012746	+	Silent	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:86012746G>A	uc001kdd.1	+	3	542	c.504G>A	c.(502-504)ctG>ctA	p.L168L	RGR_uc001kdc.1_Silent_p.L164L|RGR_uc001kde.1_Silent_p.L164L	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	164					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GCTGCACCCTGGACTACTCCA	0.587000														14			12		0	0	0.000308642	0	0
NTN5	126147	broad.mit.edu	37	19	49167500	49167500	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:49167500G>T	uc002pkb.3	-	3	966	c.870C>A	c.(868-870)acC>acA	p.T290T	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.T290T	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	290	Laminin EGF-like 3.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACTGCCCACTGGTCTGGTTGC	0.652000														10			4		1.23904e-05	0.000174428	0.000602214	1	0
C9	735	broad.mit.edu	37	5	39331858	39331858	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:39331858C>A	uc003jlv.4	-	4	624	c.535G>T	c.(535-537)Gga>Tga	p.G179*		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	179	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTACAGAGTCCATTGTAGAAC	0.438000														280			55		1.17253e-29	4.6381e-28	0.000781405	1	0
OR13C9	286362	broad.mit.edu	37	9	107380171	107380171	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:107380171C>A	uc011lvr.2	-	0	315	c.315G>T	c.(313-315)ttG>ttT	p.L105F		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G104S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCCCCATGGCCAAGCCAAGGA	0.502000														55			43		1.15505e-17	3.32713e-16	0.000437636	1	0
MYOC	4653	broad.mit.edu	37	1	171605569	171605569	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:171605569C>A	uc001ghu.3	-	2	1033	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	MYOC_uc010pmk.2_Missense_Mutation_p.Q279H	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	337	Olfactomedin-like.		Q -> E (in GLC1A).|Q -> R (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTCAGCGCCCTGGAAATAGA	0.537000														78			12		1.05317e-09	2.03988e-08	0.000219431	1	0
ALK	238	broad.mit.edu	37	2	29443618	29443618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:29443618G>A	uc002rmy.3	-	22	4551	c.3599C>T	c.(3598-3600)gCg>gTg	p.A1200V	ALK_uc010ymo.2_Missense_Mutation_p.A132V	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1200	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A1200V(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTCTCCCCCCGCCATGAGCTC	0.592000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					13			14		0	0	0.000151284	0	0
PSD	5662	broad.mit.edu	37	10	104176550	104176550	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:104176550G>T	uc001kvg.1	-	1	773	c.246C>A	c.(244-246)ccC>ccA	p.P82P	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.P82P|PSD_uc001kvi.1_Silent_p.P82P|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	82	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGGTGCCCAGGGTGAGGGAG	0.662000														30			24		3.28513e-13	7.72074e-12	0.000586117	1	0
CD37	951	broad.mit.edu	37	19	49843549	49843549	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:49843549G>T	uc002pnd.3	+	7	931	c.810G>T	c.(808-810)ctG>ctT	p.L270L	AK097351_uc002pnb.1_5'UTR|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc002pne.3_Silent_p.L202L	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	270						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GCAGAAACCTGGACCACGTCT	0.622000														27			19		6.44725e-10	1.25744e-08	0.000295444	1	0
KIAA1683	80726	broad.mit.edu	37	19	18376007	18376007	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:18376007G>T	uc010ebn.2	-	2	2559	c.2343C>A	c.(2341-2343)tcC>tcA	p.S781S	KIAA1683_uc002nin.2_Silent_p.S781S|KIAA1683_uc010xqe.1_Silent_p.S735S	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	781						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGCGTGGTTGGACACCTTGG	0.657000														83			42		1.38658e-30	5.64377e-29	0.000781405	1	0
FCGBP	8857	broad.mit.edu	37	19	40412158	40412158	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:40412158G>T	uc002omp.4	-	6	3478	c.3470C>A	c.(3469-3471)cCa>cAa	p.P1157Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1157	Cys-rich.|TIL 2.					extracellular region	protein binding	p.L1156R(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCGGGCACTGGGAGGTCTCC	0.642000														23			13		1.52009e-12	3.44288e-11	0.000308642	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503919	140503919	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:140503919G>T	uc003lip.1	+	0	2339	c.2339G>T	c.(2338-2340)aGg>aTg	p.R780M		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	780					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACACCGGGAGGGAAGTTAAG	0.448000														29			23		1.55469e-16	4.25986e-15	0.00047179	1	0
RAPH1	65059	broad.mit.edu	37	2	204305427	204305427	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:204305427G>T	uc002vad.3	-	13	2711	c.2486C>A	c.(2485-2487)cCt>cAt	p.P829H		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	829					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGGGGTAGGGGGAGAGGG	0.587000														21			17		8.60227e-14	2.08271e-12	0.000422831	1	0
ANKDD1A	348094	broad.mit.edu	37	15	65208100	65208100	+	Splice_Site	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:65208100G>A	uc002aoa.3	+	2	167	c.138_splice	c.e2+1	p.H46_splice	ANKDD1A_uc002anx.1_Splice_Site_p.H46_splice|ANKDD1A_uc002any.3_Splice_Site|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_Splice_Site_p.H16_splice	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	46					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGAAACCACGTGCGTAATGA	0.552000														17			10		0	0	6.40141e-05	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643370	1643370	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:1643370G>T	uc009ycy.1	-	1	1	c.-86_splice	c.e1-1		MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.							keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGATGAGATGGAGGTGCAGG	0.617000														39			21		8.10497e-08	1.36304e-06	0.000175454	1	0
CSMD1	64478	broad.mit.edu	37	8	2820092	2820092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:2820092G>A	uc022aqr.1	-	60	9914	c.9524C>T	c.(9523-9525)tCc>tTc	p.S3175F	CSMD1_uc011kwj.2_Missense_Mutation_p.S2505F|CSMD1_uc010lrg.3_Missense_Mutation_p.S1067F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3176	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGACTTCGGACTTATAGGT	0.527000														19			13		0	0	0.00010058	0	0
NLRC3	197358	broad.mit.edu	37	16	3614431	3614431	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:3614431C>A	uc010btn.3	-	4	918	c.507G>T	c.(505-507)aaG>aaT	p.K169N		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	169	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGAGAAGTCCTTGCCGACCT	0.657000														21			15		3.10358e-05	0.000432576	0.000295444	1	0
HDAC10	83933	broad.mit.edu	37	22	50686860	50686860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686860C>T	uc003bkg.3	-	10	1321	c.948G>A	c.(946-948)atG>atA	p.M316I	HDAC10_uc010hav.3_Missense_Mutation_p.M296I|HDAC10_uc003bkh.3_Intron|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_5'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	316	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGTACTGTCATGCACACTG	0.657000														10			27		0	0	0.000409698	0	0
SS18L1	26039	broad.mit.edu	37	20	60737980	60737980	+	Silent	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:60737980C>T	uc011aaa.1	+	4	604	c.549C>T	c.(547-549)tcC>tcT	p.S183S	SS18L1_uc002ybz.1_Non-coding_Transcript|SS18L1_uc002yca.1_Non-coding_Transcript|SS18L1_uc002ycb.3_Silent_p.S183S|SS18L1_uc002ycc.1_Non-coding_Transcript	NM_198935	NP_945173	O75177	CREST_HUMAN	Homo sapiens synovial sarcoma translocation gene on chromosome 18-like 1 (SS18L1), mRNA.	183	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			ACATGCAGTCCAACCCAGGTA	0.652000			T	SSX1	synovial sarcoma									12			13		0	0	0.000151284	0	0
WWP2	11060	broad.mit.edu	37	16	69875994	69875994	+	Silent	SNP	C	A	A	rs150363676		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:69875994C>A	uc002exu.1	+	6	635	c.546C>A	c.(544-546)ccC>ccA	p.P182P	WWP2_uc002ext.3_Silent_p.P182P|WWP2_uc002exv.1_Silent_p.P182P|WWP2_uc010vlm.1_Silent_p.P66P	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	182					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGCCCCCCAGCACAAACT	0.498000														10			10		1.08611e-07	1.79431e-06	6.40141e-05	1	0
STOX2	56977	broad.mit.edu	37	4	184938351	184938351	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:184938351C>A	uc003ivz.1	+	3	4130	c.2695C>A	c.(2695-2697)Cga>Aga	p.R899R	AK001394_uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	899					embryo development|maternal placenta development			p.R899*(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTCAACTTCCGAGCGAGCGC	0.547000														7			4		0.00024832	0.00322873	0.00024832	1	0
C12orf43	64897	broad.mit.edu	37	12	121442062	121442063	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:121442062_121442063CC>AA	uc009zxa.1	-	5	798_799	c.775_776GG>TT	c.(775-777)ggg>TTg	p.G259L	C12orf43_uc001tzh.1_Missense_Mutation_p.G228L|C12orf43_uc010szo.1_Missense_Mutation_p.G187L|C12orf43_uc010szp.1_Missense_Mutation_p.G218L|C12orf43_uc001tzi.1_Missense_Mutation_p.G229L	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	228										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACCTGGTCCCCGTTGAGCTCA	0.559000														531			12		0	0	6.4e-05	0	0
OAS3	4940	broad.mit.edu	37	12	113405891	113405891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:113405891C>T	uc001tug.3	+	13	3103	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	1006	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CACCCAGTACCGCCAGCTCTG	0.567000														22			16		0	0	0.000566183	0	0
ZNF616	90317	broad.mit.edu	37	19	52618410	52618410	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:52618410G>T	uc002pym.3	-	3	2290	c.2007C>A	c.(2005-2007)acC>acA	p.T669T	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	669					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TCCGTTTAAAGGTTTTGCCAC	0.408000														54			35		2.20474e-14	5.45551e-13	0.000692331	1	0
OR51A4	401666	broad.mit.edu	37	11	4967462	4967462	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:4967462G>T	uc010qys.2	-	0	869	c.869C>A	c.(868-870)cCa>cAa	p.P290Q		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAACAATTGGGTTCGTCAG	0.423000														110			14		2.32078e-09	4.35982e-08	0.000308642	1	0
KCNB1	3745	broad.mit.edu	37	20	47990039	47990039	+	Silent	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:47990039G>T	uc002xur.1	-	1	2224	c.2058C>A	c.(2056-2058)ccC>ccA	p.P686P	KCNB1_uc002xus.1_Silent_p.P686P	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	686					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.P686A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCCTAGAACGGGGAGGAGTG	0.557000														29			26		2.27525e-19	7.02203e-18	0.000586117	1	0
COL19A1	1310	broad.mit.edu	37	6	70647929	70647929	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:70647929G>T	uc003pfc.1	+	9	991	c.874_splice	c.e9-1	p.G292_splice	COL19A1_uc010kam.2_Splice_Site_p.G188_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	292	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTTTGCTCAGGGAGAAGCAG	0.428000														37			22		3.6726e-16	9.91779e-15	0.000586117	1	0
MAP1S	55201	broad.mit.edu	37	19	17838339	17838339	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:17838339G>T	uc002nhe.1	+	4	2155	c.2146G>T	c.(2146-2148)Ggg>Tgg	p.G716W	MAP1S_uc010eaz.2_Missense_Mutation_p.G329W|MAP1S_uc010xpv.1_Missense_Mutation_p.G690W	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	716	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGTGAGGCTGGGCTGAGCCT	0.687000														12			8		1.76689e-08	3.10145e-07	0.000442599	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88916409	88916409	+	Missense_Mutation	SNP	C	A	A	rs76212915		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:88916409C>A	uc004aou.3	-	25	4340	c.4202G>T	c.(4201-4203)aGg>aTg	p.R1401M	ZCCHC6_uc010mqe.3_Missense_Mutation_p.R301M|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.R1401M|ZCCHC6_uc004aot.3_Missense_Mutation_p.R1165M|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	1401					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGACACCTCCCTTTCTGTGTA	0.498000														45			32		5.77227e-19	1.75259e-17	0.000227799	1	0
ZNF514	84874	broad.mit.edu	37	2	95815421	95815421	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:95815421C>A	uc002sud.1	-	4	1399	c.1028G>T	c.(1027-1029)aGc>aTc	p.S343I	ZNF514_uc002sue.1_Missense_Mutation_p.S270I	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						CGAACTCTGGCTGAAGGCTCT	0.428000														27			22		1.50039e-11	3.16831e-10	0.000229342	1	0
DGKQ	1609	broad.mit.edu	37	4	960292	960292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:960292C>T	uc003gbw.3	-	11	1464	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	DGKQ_uc010ibn.3_Missense_Mutation_p.E464K	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	464	Ras-associating.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGGGCTGTTCGTCCATCAGC	0.701000														8			26		0	0	0.000184323	0	0
DSG1	1828	broad.mit.edu	37	18	28923508	28923508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:28923508C>T	uc002kwp.3	+	11	1995	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	595					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGCAATTCATTCATGGGC	0.473000														45			25		0	0	0.000878237	0	0
RP1L1	94137	broad.mit.edu	37	8	10465297	10465297	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:10465297G>T	uc003wtc.3	-	3	6540	c.6311C>A	c.(6310-6312)cCa>cAa	p.P2104Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2104					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)		TTCTGCCTCTGGGGCCTCTAC	0.617000														68			59		2.17656e-39	9.62655e-38	0.000781405	1	0
CORO1A	11151	broad.mit.edu	37	16	30196587	30196587	+	Silent	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:30196587C>A	uc010bzq.3	+	2	492	c.57C>A	c.(55-57)gcC>gcA	p.A19A	BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.2_Silent_p.A19A|CORO1A_uc002dww.3_Silent_p.A19A|CORO1A_uc002dwx.3_5'UTR|CORO1A_uc002dwy.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	19					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GACAGCCGGCCAAGGCCGACC	0.582000														36			9		1.12685e-05	0.000161057	0.000274275	1	0
GPSM2	29899	broad.mit.edu	37	1	109441298	109441299	+	Missense_Mutation	DNP	CG	AT	AT	rs148114086		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:109441298_109441299CG>AT	uc010ovc.2	+	5	1088_1089	c.592_593CG>AT	c.(592-594)cga>ATa	p.R198I	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.R198I|GPSM2_uc010ove.1_Missense_Mutation_p.R198I	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	198					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TTTGGGTGACCGAGCGGCACAA	0.416000														442			10		0	0	6.4e-05	0	0
PLIN3	10226	broad.mit.edu	37	19	4839210	4839210	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:4839210C>A	uc002mbj.2	-	7	1476	c.1299G>T	c.(1297-1299)aaG>aaT	p.K433N	PLIN3_uc002mbk.2_Missense_Mutation_p.K421N|PLIN3_uc002mbl.3_Missense_Mutation_p.K432N	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	433					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCCCCTACTTCTTCTCCTCCG	0.567000														27			19		1.96292e-10	3.96609e-09	0.000175454	1	0
PIWIL1	9271	broad.mit.edu	37	12	130831091	130831091	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:130831091G>T	uc001uik.3	+	4	764	c.493G>T	c.(493-495)Gga>Tga	p.G165*	PIWIL1_uc001uij.2_Nonsense_Mutation_p.G165*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	165					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGCTTTTGATGGAACGATATT	0.388000														26			19		2.21704e-12	4.96139e-11	0.000375601	1	0
SLC8A3	6547	broad.mit.edu	37	14	70634712	70634712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:70634712G>A	uc001xly.3	-	1	1182	c.428C>T	c.(427-429)tCc>tTc	p.S143F	SLC8A3_uc001xlw.3_Missense_Mutation_p.S143F|SLC8A3_uc001xlx.3_Missense_Mutation_p.S143F|SLC8A3_uc001xlz.3_Missense_Mutation_p.S143F|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	143					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGAGCAGAGGAACCCAGGGC	0.498000														23			11		0	0	0.000151284	0	0
C9orf84	158401	broad.mit.edu	37	9	114470148	114470148	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:114470148C>A	uc004bfr.3	-	16	2488	c.2353G>T	c.(2353-2355)Ggt>Tgt	p.G785C	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.G746C|C9orf84_uc010mug.3_Missense_Mutation_p.G696C	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	785										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTAAAACACCTTCAGATTCC	0.323000														158			14		4.3838e-07	6.95588e-06	0.000151284	1	0
EPHB1	2047	broad.mit.edu	37	3	134670531	134670531	+	Missense_Mutation	SNP	C	A	A	rs62270337		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:134670531C>A	uc003eqt.3	+	2	817	c.442C>A	c.(442-444)Cag>Aag	p.Q148K	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.Q148K	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	148						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAGCTTCTCCCAGGTGGACTT	0.502000														73			88		1.11079e-38	4.87447e-37	0.000781405	1	0
DNAH9	1770	broad.mit.edu	37	17	11593391	11593391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:11593391G>A	uc002gne.3	+	19	4320	c.4252G>A	c.(4252-4254)Gat>Aat	p.D1418N	DNAH9_uc010coo.3_Missense_Mutation_p.D712N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1418	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D1418Y(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACTATGAGGATGAGGTCCG	0.562000														5			9		0	0	0.000274275	0	0
VAT1L	57687	broad.mit.edu	37	16	77896747	77896747	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:77896747C>A	uc002ffg.1	+	3	779	c.682C>A	c.(682-684)Ctc>Atc	p.L228I		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	228							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGTGACCCACCTCTTTGACAG	0.473000														69			26		1.42536e-11	3.02122e-10	0.000720815	1	0
KERA	11081	broad.mit.edu	37	12	91449766	91449766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:91449766C>T	uc001tbl.3	-	1	912	c.293G>A	c.(292-294)aGa>aAa	p.R98K		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	98					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATTTATCCATCTTAGCTGGGT	0.363000														47			30		0	0	0.000339439	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142434087	142434087	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:142434087C>A	uc011dbj.2	+	14	1404	c.1369C>A	c.(1369-1371)Cta>Ata	p.L457I	ARHGAP26_uc003lmt.3_Missense_Mutation_p.L457I|ARHGAP26_uc003lmw.3_Missense_Mutation_p.L457I	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	457	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGACCTACCTAAGGTAGGG	0.443000														69			50		1.00776e-21	3.38956e-20	0.000781405	1	0
CDH23	64072	broad.mit.edu	37	10	73559348	73559348	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:73559348G>T	uc001jrx.4	+	49	7705	c.7315G>T	c.(7315-7317)Gga>Tga	p.G2439*	CDH23_uc001jsg.4_Nonsense_Mutation_p.G202*|CDH23_uc001jsh.4_Nonsense_Mutation_p.G202*|CDH23_uc001jsi.4_Nonsense_Mutation_p.G202*	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2442	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTACAGCCTTGGAGATGGAGA	0.547000														73			9		1.76689e-08	3.10145e-07	0.000442599	1	0
TRIOBP	11078	broad.mit.edu	37	22	38086703	38086703	+	Splice_Site	SNP	G	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:38086703G>T	uc003atq.1	+	5	438	c.-596_splice	c.e5-1		NOL12_uc011anm.1_Splice_Site_p.G128_splice|NOL12_uc003ato.1_Splice_Site|NOL12_uc003atp.3_Splice_Site_p.G128_splice	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.						actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCCTCTTTAGGGAGGGGCTG	0.622000														184			17		1.01871e-10	2.10372e-09	0.000132079	1	0
OSMR	9180	broad.mit.edu	37	5	38924539	38924539	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:38924539C>G	uc003jln.2	+	13	2288	c.1886C>G	c.(1885-1887)cCt>cGt	p.P629R	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	629	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCAGACAACCCTCACGTGCTG	0.408000														92			18		0	0	0.000132079	0	0
TATDN1	83940	broad.mit.edu	37	8	125520735	125520735	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:125520735C>A	uc003yrd.2	-	7	538	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	TATDN1_uc003yre.2_Non-coding_Transcript|TATDN1_uc010mdm.2_Missense_Mutation_p.D119Y	NM_032026	NP_001139632	Q6P1N9	TATD1_HUMAN	Homo sapiens TatD DNase domain containing 1 (TATDN1), transcript variant 1, mRNA.	166						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACACACCGATCTCTATTTCTT	0.308000														28			15		1.02788e-11	2.21212e-10	0.000566183	1	0
C7orf29	113763	broad.mit.edu	37	7	150027647	150027647	+	Silent	SNP	T	C	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:150027647T>C	uc003wgy.3	+	0	710	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	52										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGCTGAGGGGTTGGCCCGGCA	0.607000														68			36		0	0	0.000270559	0	0
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:155886422_155886423delCT	uc001fmi.1	-	11	1570_1571	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													---	404	---	---	7	---					
AP3B1	8546	broad.mit.edu	37	5	77536740	77536741	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:77536740_77536741insT	uc003kfj.3	-	2	349_350	c.224_225insA	c.(223-225)aatfs	p.N75fs		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	75					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GTTCAGATGCATTTTTCCCTTT	0.297									Hermansky-Pudlak syndrome				---	123	---	---	93	---					
MATN2	4147	broad.mit.edu	37	8	99028877	99028877	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:99028877delA	uc003yic.3	+	10	1914	c.1683delA	c.(1681-1683)ggafs	p.G561fs	MATN2_uc010mbh.1_Frame_Shift_Del_p.G520fs|MATN2_uc003yid.3_Frame_Shift_Del_p.G561fs|MATN2_uc003yie.1_Frame_Shift_Del_p.G561fs|MATN2_uc010mbi.1_Frame_Shift_Del_p.G394fs	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	561	EGF-like 8.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GTGAAGATGGAAAAACCTGCA	0.453													---	4	---	---	3	---					
ANO1	55107	broad.mit.edu	37	11	69934084	69934084	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:69934084delC	uc001opj.3	+	1	640	c.335delC	c.(334-336)tcgfs	p.S112fs	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Frame_Shift_Del_p.S84fs	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	112					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GATGCAGGCTCGGGGGAGCCC	0.701													---	4	---	---	2	---					
SYMPK	8189	broad.mit.edu	37	19	46330795	46330797	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:46330795_46330797delGAG	uc002pdn.3	-	15	2397_2399	c.2152_2154delCTC	c.(2152-2154)ctcdel	p.L718del	SYMPK_uc002pdo.1_In_Frame_Del_p.L718del|SYMPK_uc002pdp.1_In_Frame_Del_p.L718del	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	718					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGCTGAGGTCGAGGAGGACATGC	0.581													---	33	---	---	8	---					
