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
FOXF1	2294	broad.mit.edu	37	16	86546577	86546578	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:86546577_86546578GG>AA	uc002fjl.3	+	1	1069_1070	c.1026_1027GG>AA	c.(1024-1029)aaggag>aaAAag	p.E343K		NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	343					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.Q342Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GTGACCGAAAGGAGTTTGTCTT	0.609000														69			10		0	0	0.004672	0	0
BCOR	54880	broad.mit.edu	37	X	39932522	39932522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:39932522G>A	uc004den.4	-	3	2369	c.2077C>T	c.(2077-2079)Cct>Tct	p.P693S	BCOR_uc004dep.4_Missense_Mutation_p.P693S|BCOR_uc004deo.4_Missense_Mutation_p.P693S|BCOR_uc004dem.4_Missense_Mutation_p.P693S|BCOR_uc004deq.4_Missense_Mutation_p.P693S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	693	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGTGCCCAGGAAACAGACTG	0.582000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							42			6		0	0	0.001168	0	0
IL10RA	3587	broad.mit.edu	37	11	117869672	117869672	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:117869672G>A	uc001prv.3	+	6	1130	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	IL10RA_uc010rxl.2_Silent_p.R331R|IL10RA_uc010rxm.2_Silent_p.R331R|IL10RA_uc010rxn.2_Silent_p.R202R|IL10RA_uc001prw.3_Silent_p.R202R	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	351			R -> G (in dbSNP:rs2229113).			integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGGGAAACAGGGAGCCCCCTG	0.642000														50			11		0	0	0.000978	0	0
TKTL2	84076	broad.mit.edu	37	4	164393616	164393616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:164393616G>A	uc003iqp.4	-	0	1432	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	424						cytoplasm	metal ion binding|transketolase activity	p.V423I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCTCCAGTGGATACCCCACA	0.483000														66			9		0	0	0.004482	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423956	33423956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:33423956C>T	uc003oeq.3	+	1	1347	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L	ZBTB9_uc021ywp.1_Missense_Mutation_p.P360L	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	360	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGTGGAGGACCTGGGGGAGCA	0.607000														40			6		0	0	0.001168	0	0
RUVBL2	10856	broad.mit.edu	37	19	49514511	49514512	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:49514511_49514512CC>TT	uc002plr.1	+	10	958_959	c.945_946CC>TT	c.(943-948)gccctg>gcTTtg	p.315_316AL>AL	RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Silent_p.270_271AL>AL	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	315					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCAACCGGGCCCTGGAGAGTGA	0.614000														57			16		0	0	0.004672	0	0
COPG2	26958	broad.mit.edu	37	7	130295862	130295862	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:130295862G>A	uc003vqh.1	-	8	789	c.699C>T	c.(697-699)atC>atT	p.I233I		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	233					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					TGGCAATTCGGATCAGCATGC	0.383000														178			47		0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215884507	215884507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:215884507C>T	uc002vew.3	-	11	1521	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	ABCA12_uc002vev.3_Missense_Mutation_p.R116Q|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	434					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTCAAGTTTCGAAGTTGAGA	0.363000														26			4		0	0	0.000602	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603480	48603480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:48603480G>A	uc010wmr.2	+	13	2312	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	680					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAGAAGGCCAGAGTGGGGACC	0.602000														88			24		0	0	0.002299	0	0
ARAP2	116984	broad.mit.edu	37	4	36069761	36069761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:36069761C>T	uc003gsq.2	-	32	5221	c.4883G>A	c.(4882-4884)cGa>cAa	p.R1628Q	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1628					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCGATGTTTTCGGGGTCGATT	0.507000														17			4		0	0	0.000248	0	0
EP300	2033	broad.mit.edu	37	22	41573197	41573197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:41573197C>T	uc003azl.4	+	30	5877	c.5482C>T	c.(5482-5484)Ctt>Ttt	p.L1828F		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1828					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCCCAAATGCTTCGCAGGAG	0.612000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					51			17		0	0	0.004990	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959992	45959992	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:45959992G>A	uc002zfh.1	-	0	87	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	14						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCCAGGAGTCGGAGCAAGCGC	0.682000														113			24		0	0	0.005443	0	0
PRKCB	5579	broad.mit.edu	37	16	23847548	23847548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:23847548G>A	uc002dmd.3	+	0	249	c.52G>A	c.(52-54)Gtg>Atg	p.V18M	PRKCB_uc002dme.3_Missense_Mutation_p.V18M	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	18					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGAGAGCACCGTGCGCTTCGC	0.711000														50			8		0	0	0.003080	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48840277	48840277	+	Silent	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:48840277T>C	uc004dly.1	-	14	1217	c.1182A>G	c.(1180-1182)tcA>tcG	p.S394S	GRIPAP1_uc004dlz.3_Silent_p.S284S|GRIPAP1_uc004dma.3_Silent_p.S341S	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	394						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGGCCCGTAATGACTCCTAAT	0.507000														101			11		0	0	0.000673	0	0
RALGAPB	57148	broad.mit.edu	37	20	37150215	37150215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:37150215C>T	uc002xiw.3	+	9	1750	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.3_Missense_Mutation_p.P498L|RALGAPB_uc002xiy.1_Missense_Mutation_p.P498L|RALGAPB_uc002xiz.3_Missense_Mutation_p.P276L|RALGAPB_uc002xja.1_Missense_Mutation_p.P225L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	498					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTTCCAATCCTATGTTTGAT	0.443000														54			6		0	0	0.001168	0	0
IGH	0	broad.mit.edu	37	16	32077387	32077387	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:32077387A>G	uc010vft.2	+	1		c.1_splice	c.e1-1		VHDJH_uc010vfu.2_5'Flank					Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:aims0155h.																		GCCCAGTGTGAGGTGCAGCTG	0.537000														100			20		0	0	0.001216	0	0
OR52B6	340980	broad.mit.edu	37	11	5602787	5602787	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:5602787C>T	uc010qzi.2	+	0	681	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCACAGGCCTAGACATCA	0.507000														203			35		0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9087174	9087174	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:9087174C>T	uc002mkp.3	-	0	4845	c.4641G>A	c.(4639-4641)gtG>gtA	p.V1547V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1547	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						AGTGTTCAATCACACTGGTCC	0.488000														78			8		0	0	0.004482	0	0
CENPB	1059	broad.mit.edu	37	20	3766206	3766206	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:3766206G>A	uc002wjk.3	-	0	1132	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.	309					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ACATGCCGCAGGCCCGAGGTG	0.662000														20			3		0	0	0.000248	0	0
ASXL3	80816	broad.mit.edu	37	18	31323465	31323465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:31323465C>T	uc010dmg.1	+	11	3708	c.3653C>T	c.(3652-3654)tCa>tTa	p.S1218L	ASXL3_uc002kxq.2_Missense_Mutation_p.S925L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1218	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAATTGTTTCATCTACCTCT	0.373000														52			13		0	0	0.001855	0	0
RRP8	23378	broad.mit.edu	37	11	6623248	6623248	+	Missense_Mutation	SNP	C	A	A	rs140361064		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:6623248C>A	uc001med.3	-	1	445	c.297G>T	c.(295-297)caG>caT	p.Q99H	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	99					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						AAGGTGGGCCCTGTTTTTGAC	0.463000														92			12		6.40141e-05	8.57815e-05	0.000978	1	0
CCDC33	80125	broad.mit.edu	37	15	74627341	74627341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:74627341G>A	uc002axo.3	+	17	2445	c.2051G>A	c.(2050-2052)gGa>gAa	p.G684E	CCDC33_uc002axp.3_Missense_Mutation_p.G540E|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.G311E|CCDC33_uc002axr.3_Missense_Mutation_p.G277E	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	887							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGACGCTGGGGACGAGAGAAG	0.577000														78			9		0	0	0.000978	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19200962	19200962	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:19200962G>C	uc001bbb.3	-	13	1850	c.1574C>G	c.(1573-1575)gCc>gGc	p.A525G	ALDH4A1_uc010ocu.2_Missense_Mutation_p.A465G|ALDH4A1_uc001bbc.3_Missense_Mutation_p.A525G|ALDH4A1_uc021ohl.1_Missense_Mutation_p.A474G	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	525				RAS -> GSA (in Ref. 9; AA sequence).	proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CTCACCAGAGGCTCGGGCCCC	0.592000														97			19		0	0	0.001523	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				157			72		4.01556e-35	5.46905e-35	0.003610	1	0
PTGFR	5737	broad.mit.edu	37	1	78958820	78958820	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:78958820T>A	uc001din.3	+	1	658	c.392T>A	c.(391-393)aTt>aAt	p.I131N	PTGFR_uc001dim.3_Missense_Mutation_p.I131N	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	131					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GTGATGGCCATTGAGCGGTGT	0.408000														109			16		0	0	0.003163	0	0
D2HGDH	728294	broad.mit.edu	37	2	242684288	242684288	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:242684288C>T	uc002wce.1	+	5	1022	c.849C>T	c.(847-849)ttC>ttT	p.F283F	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.F149F|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	283					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACGTGGCTTTCCTCGGTGGGC	0.597000														186			26		0	0	0.004656	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482630	54482630	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:54482630T>A	uc002rxr.2	-	0	780	c.659A>T	c.(658-660)gAc>gTc	p.D220V	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	220					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GAGCGCCCTGTCAGCCTCTGC	0.622000														77			6		0	0	0.001168	0	0
PCYOX1	51449	broad.mit.edu	37	2	70503997	70503997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:70503997C>T	uc002sgn.4	+	5	1057	c.991C>T	c.(991-993)Cct>Tct	p.P331S	PCYOX1_uc010fdo.3_Missense_Mutation_p.P254S|PCYOX1_uc010yqu.2_Missense_Mutation_p.P313S	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	331					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAACTTTGATCCTCCAATTGA	0.368000														38			4		0	0	0.000602	0	0
DNAH17	8632	broad.mit.edu	37	17	76548857	76548857	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:76548857G>A	uc010dhp.2	-	14	2334	c.2209C>T	c.(2209-2211)Cta>Tta	p.L737L	DNAH17_uc002jvv.2_Silent_p.L439L	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)			TTTATTAGTAGAAATTCTACT	0.413000														186			27		0	0	0.002096	0	0
MYO3A	53904	broad.mit.edu	37	10	26359144	26359144	+	Splice_Site	SNP	G	A	A	rs77562287	byFrequency	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:26359144G>A	uc001isn.2	+	13	1635	c.1275_splice	c.e13+1	p.Q425_splice	MYO3A_uc009xko.1_Splice_Site_p.Q425_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Splice_Site_p.Q425_splice	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	425	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTCAGATCAGGTAAGAAGAG	0.333000														34			11		0	0	0.000673	0	0
NEB	4703	broad.mit.edu	37	2	152534274	152534274	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:152534274C>T	uc021vrb.1	-	31	3608	c.3579G>A	c.(3577-3579)aaG>aaA	p.K1193K	NEB_uc002txu.3_Silent_p.K1193K|NEB_uc021vrc.1_Silent_p.K1193K|NEB_uc010fnx.3_Silent_p.K1193K|NEB_uc021vrd.1_Silent_p.K1193K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1193					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTAGTCTTCCTTGTAGACGT	0.458000														149			15		0	0	0.004990	0	0
IGF2R	3482	broad.mit.edu	37	6	160517543	160517543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:160517543C>T	uc003qta.3	+	44	6876	c.6728C>T	c.(6727-6729)aCc>aTc	p.T2243I		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2243					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTTTCTTCCACCATCTTCTTC	0.547000														139			18		0	0	0.007413	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461342	5461342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:5461342C>T	uc003jdm.4	+	12	2117	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	632										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTTTTTCTTCCTCTTCTACC	0.413000														70			13		0	0	0.001855	0	0
MYO9B	4650	broad.mit.edu	37	19	17283623	17283623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:17283623G>A	uc010eak.3	+	12	2143	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q	MYO9B_uc002nfi.3_Missense_Mutation_p.R664Q|MYO9B_uc002nfj.1_Missense_Mutation_p.R664Q	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	664	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCCTGCTGCGGGGCAGTGAC	0.657000														123			20		0	0	0.001523	0	0
LRTM1	57408	broad.mit.edu	37	3	54952852	54952852	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:54952852G>A	uc003dhl.3	-	2	806	c.672C>T	c.(670-672)atC>atT	p.I224I	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	224	LRRCT.					integral to membrane		p.I224I(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTCATGAGGGATCCTAAGGA	0.542000														28			6		0	0	0.004482	0	0
AATF	26574	broad.mit.edu	37	17	35346599	35346600	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:35346599_35346600GG>TA	uc002hni.3	+	6	1454_1455	c.1203_1204GG>TA	c.(1201-1206)atggac>atTAac	p.401_402MD>IN		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	401	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ATATTCTGATGGACAAAGAGAG	0.475000														125			22		0	0	0.004672	0	0
CALML5	51806	broad.mit.edu	37	10	5541065	5541065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:5541065G>A	uc001iic.2	-	0	469	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	113	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding	p.P113L(1)		biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						TGCGGCAGCGGCTGCCCCAGC	0.706000														23			5		0	0	0.000602	0	0
OR6C75	390323	broad.mit.edu	37	12	55759684	55759684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:55759684G>A	uc010spk.2	+	0	790	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTGCCAGAGAAAGGGTGAC	0.418000														8			3		0	0	0.004672	0	0
PKM2	5315	broad.mit.edu	37	15	72501167	72501167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:72501167G>A	uc002aty.2	-	5	915	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	PKM2_uc010bit.1_Missense_Mutation_p.L216F|PKM2_uc010uki.2_Missense_Mutation_p.L285F|PKM2_uc002atx.2_Missense_Mutation_p.L211F|PKM2_uc002atw.2_Missense_Mutation_p.L211F|PKM2_uc010ukj.2_Missense_Mutation_p.L196F|PKM2_uc010ukk.2_Missense_Mutation_p.L137F|PKM2_uc002atv.2_Missense_Mutation_p.L246F|PKM2_uc010biu.1_Missense_Mutation_p.L232F	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	211					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	GCCCCAGGAAGGTTCACACCC	0.542000														33			4		0	0	0.000602	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456640	5456640	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:5456640C>G	uc002mca.4	+	0	1215	c.1138C>G	c.(1138-1140)Cgg>Ggg	p.R380G		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	380						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCGGGCCACCGGCCCCCCAT	0.672000														65			7		0	0	0.001984	0	0
DNAH2	146754	broad.mit.edu	37	17	7637788	7637788	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:7637788C>T	uc002giu.1	+	6	754	c.740_splice	c.e6-1	p.T247_splice	DNAH2_uc002git.3_Splice_Site_p.T247_splice|DNAH2_uc010vuk.2_Splice_Site_p.T247_splice	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	247	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCCTGCAGCCTCCATGATC	0.532000														50			8		0	0	0.003080	0	0
FOXK2	3607	broad.mit.edu	37	17	80543958	80543958	+	Silent	SNP	C	G	G	rs148659399		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:80543958C>G	uc002kfn.3	+	6	1629	c.1458C>G	c.(1456-1458)gcC>gcG	p.A486A	FOXK2_uc002kfm.1_Silent_p.A486A|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	486					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCAGTGTGGCCGGACTGGCCC	0.662000														58			6		0	0	0.006214	0	0
PLCD3	113026	broad.mit.edu	37	17	43194126	43194126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:43194126G>A	uc002iib.3	-	7	1400	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	429	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GTTCTCCAGGGATAGGATGAC	0.647000														83			15		0	0	0.001216	0	0
MYO18B	84700	broad.mit.edu	37	22	26164562	26164562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:26164562G>A	uc003abz.1	+	3	929	c.679G>A	c.(679-681)Gga>Aga	p.G227R	MYO18B_uc003aca.1_Missense_Mutation_p.G108R|MYO18B_uc010guy.1_Missense_Mutation_p.G108R|MYO18B_uc010guz.1_Missense_Mutation_p.G108R|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	227						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.G227E(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAGGCCAAGGAACTGTGGC	0.617000														20			5		0	0	0.000602	0	0
TECTA	7007	broad.mit.edu	37	11	121058591	121058591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:121058591C>T	uc010rzo.2	+	19	6050	c.6050C>T	c.(6049-6051)tCc>tTc	p.S2017F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2017	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AATGCAGTCTCCCTGACCTGT	0.433000														73			13		0	0	0.003163	0	0
APBB2	323	broad.mit.edu	37	4	40832536	40832536	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:40832536G>A	uc003gvn.3	-	12	2218	c.1588C>T	c.(1588-1590)Cga>Tga	p.R530*	APBB2_uc010ifu.3_Nonsense_Mutation_p.R101*|APBB2_uc003gvl.3_Nonsense_Mutation_p.R529*|APBB2_uc003gvm.3_Nonsense_Mutation_p.R508*|APBB2_uc003gvk.3_5'UTR|APBB2_uc021xnt.1_5'UTR	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	529	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGTCACATCGAAATACATGA	0.433000														42			5		0	0	0.000602	0	0
ISOC2	79763	broad.mit.edu	37	19	55967743	55967743	+	Silent	SNP	G	A	A	rs11555785	by1000genomes	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:55967743G>A	uc002qla.3	-	1	285	c.111C>T	c.(109-111)atC>atT	p.I37I	ISOC2_uc002qlb.3_Silent_p.I37I|ISOC2_uc002qlc.3_Silent_p.I37I	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	37					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		CCACTGAGACGATCTGTGGGA	0.627000														107			19		0	0	0.007413	0	0
PHF20L1	51105	broad.mit.edu	37	8	133858053	133858053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:133858053G>A	uc003ytt.3	+	20	3264	c.2939G>A	c.(2938-2940)gGg>gAg	p.G980E	PHF20L1_uc011lja.2_Missense_Mutation_p.G954E	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	980							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTTCACAGGGGAGTTGGAG	0.408000														25			4		0	0	0.001168	0	0
ZNF862	643641	broad.mit.edu	37	7	149557631	149557631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:149557631G>A	uc010lpn.3	+	6	1574	c.1382G>A	c.(1381-1383)aGg>aAg	p.R461K		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGGACATACAGGCCCCGTTCC	0.537000														194			29		0	0	0.002445	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544901	55544901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:55544901G>A	uc002ryv.2	-	19	4240	c.3398C>T	c.(3397-3399)tCc>tTc	p.S1133F	CCDC88A_uc010ypa.1_Missense_Mutation_p.S1133F|CCDC88A_uc010yoz.1_Missense_Mutation_p.S1134F|CCDC88A_uc002ryu.2_Missense_Mutation_p.S416F|CCDC88A_uc002rys.3_Missense_Mutation_p.S119F|CCDC88A_uc002ryw.3_Missense_Mutation_p.S417F|CCDC88A_uc010fby.1_Missense_Mutation_p.S13F	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1134					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATTTTCTAAGGAAGACTGCTG	0.353000														34			6		0	0	0.001984	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282952	140282952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:140282952G>A	uc003etn.3	+	15	2822	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	878					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGACTGGGACGATTCTGCGCT	0.582000										HNSCC(16;0.037)				35			5		0	0	0.000602	0	0
SUN5	140732	broad.mit.edu	37	20	31572976	31572976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:31572976G>A	uc002wyi.3	-	11	1006	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	305	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCCTCCTTGGGGGAGCCCTCC	0.577000														79			13		0	0	0.003163	0	0
BLK	640	broad.mit.edu	37	8	11407733	11407733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:11407733C>T	uc003wty.3	+	5	1015	c.434C>T	c.(433-435)gCc>gTc	p.A145V		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	145	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATCAACAAGGCCGGCTCCTTT	0.557000														152			13		0	0	0.004990	0	0
ZNF569	148266	broad.mit.edu	37	19	37905009	37905009	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:37905009G>T	uc002ogj.3	-	8	1555	c.623C>A	c.(622-624)aCc>aAc	p.T208N	ZNF569_uc002ogh.3_Missense_Mutation_p.T25N|ZNF569_uc002ogi.3_Missense_Mutation_p.T184N	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTAAAGGGGGTAATGACAAA	0.373000														28			6		0.00116845	0.00155326	0.001168	1	0
MACF1	23499	broad.mit.edu	37	1	39824448	39824449	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:39824448_39824449CC>TT	uc021olw.1	+	9	7343_7344	c.7343_7344CC>TT	c.(7342-7344)gcc>gTT	p.A2448V	MACF1_uc021ols.1_Missense_Mutation_p.A1946V|MACF1_uc001cdc.2_Missense_Mutation_p.A1946V|MACF1_uc021olt.1_Missense_Mutation_p.A1946V|MACF1_uc001cda.1_Missense_Mutation_p.A1854V|MACF1_uc001cdb.1_Missense_Mutation_p.A1033V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4013					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCCTGCAGGCCTGGATGCAGG	0.500000														47			5		0	0	0.004672	0	0
TTBK2	146057	broad.mit.edu	37	15	43044548	43044548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:43044548C>T	uc001zqo.2	-	13	3335	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K	TTBK2_uc010bcy.2_Missense_Mutation_p.E897K	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	966					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGGAGCTTTTCTTTTGCAGAA	0.443000														63			10		0	0	0.000673	0	0
CAP2	10486	broad.mit.edu	37	6	17539604	17539604	+	Silent	SNP	C	T	T	rs150167032		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:17539604C>T	uc003ncb.3	+	7	984	c.741C>T	c.(739-741)ttC>ttT	p.F247F	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.F221F|CAP2_uc011djb.2_Silent_p.F183F|CAP2_uc011djc.2_Silent_p.F135F|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	247					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CTCCACTTTTCGAGAATGAAG	0.507000														61			15		0	0	0.004007	0	0
PNLIP	5406	broad.mit.edu	37	10	118315528	118315528	+	Silent	SNP	G	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:118315528G>C	uc001lcm.3	+	8	871	c.828G>C	c.(826-828)gcG>gcC	p.A276A		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	276					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GAGACTTTGCGGCCTGTAATC	0.403000														52			4		0	0	0.000248	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000														70			46		0	0	0.003610	0	0
SLC45A4	57210	broad.mit.edu	37	8	142225904	142225904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:142225904G>A	uc003ywd.1	-	5	2050	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	SLC45A4_uc003ywc.1_Missense_Mutation_p.S581F|SLC45A4_uc010meq.1_Missense_Mutation_p.S579F	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	632					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGGCAGTAGGAGATGCTCAT	0.607000														118			10		0	0	0.006214	0	0
PRRG3	79057	broad.mit.edu	37	X	150868496	150868496	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:150868496G>A	uc022cgt.1	+	2	85	c.36G>A	c.(34-36)tcG>tcA	p.S12S	PRRG3_uc004few.2_Silent_p.S12S	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	12						extracellular region|integral to membrane	calcium ion binding	p.S12L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCATTCGGTCCTGAAAC	0.607000														73			11		0	0	0.000673	0	0
C14orf166B	145497	broad.mit.edu	37	14	77319594	77319594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:77319594G>A	uc001xsx.2	+	8	963	c.849G>A	c.(847-849)atG>atA	p.M283I	C14orf166B_uc010asn.1_Missense_Mutation_p.M43I|C14orf166B_uc001xsw.2_Intron|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	283										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ATCTCTCCATGAATGGCTTTG	0.547000														101			11		0	0	0.000978	0	0
BOC	91653	broad.mit.edu	37	3	112969407	112969407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:112969407G>A	uc003dzx.3	+	3	724	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	BOC_uc010hqi.3_Missense_Mutation_p.V35I|BOC_uc003dzy.3_Missense_Mutation_p.V35I|BOC_uc003dzz.3_Missense_Mutation_p.V35I|BOC_uc003dzw.1_Missense_Mutation_p.V35I|BOC_uc003eaa.1_Missense_Mutation_p.V35I	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	35					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.E34K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCCAGACGAGGTCCCTCAGGT	0.552000														83			5		0	0	0.000602	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435757	5435758	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:5435757_5435758GG>AA	uc001ihy.3	-	3	1101_1102	c.1063_1064CC>TT	c.(1063-1065)cca>TTa	p.P355L	TUBAL3_uc001ihz.3_Missense_Mutation_p.P315L	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	355					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GAAACCAGTTGGACACCAATCT	0.569000														49			6		0	0	0.004672	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488000														87			4		0	0	0.000602	0	0
RBM10	8241	broad.mit.edu	37	X	47039321	47039321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:47039321C>T	uc004dhi.3	+	9	1368	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	RBM10_uc004dhf.3_Missense_Mutation_p.S315F|RBM10_uc004dhh.3_Missense_Mutation_p.S315F|RBM10_uc010nhq.3_Missense_Mutation_p.S238F|RBM10_uc004dhg.3_Missense_Mutation_p.S238F	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	315	RRM 2.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding	p.E380K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACCATGGATTCCATCCTGGGG	0.602000														24			9		0	0	0.004482	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799037	25799037	+	Silent	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:25799037T>C	uc003nfh.4	-	11	1496	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.K460K|SLC17A1_uc010jqc.1_Silent_p.K404K	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	460					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.K460K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGTTTTTCTTTAGCCCAGT	0.428000														44			9		0	0	0.000673	0	0
HYAL4	23553	broad.mit.edu	37	7	123517096	123517096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:123517096G>A	uc003vlc.3	+	4	1971	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	445					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.D445A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGAAGGAGCTGATTGCAGAGA	0.453000														38			8		0	0	0.004482	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695472	48695472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:48695472C>T	uc002irk.1	+	30	5662	c.5290C>T	c.(5290-5292)Ctc>Ttc	p.L1764F	CACNA1G_uc002irj.1_Missense_Mutation_p.L1730F|CACNA1G_uc002irl.1_Missense_Mutation_p.L1741F|CACNA1G_uc002irm.1_Missense_Mutation_p.L1730F|CACNA1G_uc002irn.1_Missense_Mutation_p.L1723F|CACNA1G_uc002iro.1_Missense_Mutation_p.L1730F|CACNA1G_uc002irp.1_Missense_Mutation_p.L1764F|CACNA1G_uc002irq.1_Missense_Mutation_p.L1741F|CACNA1G_uc002irr.1_Missense_Mutation_p.L1764F|CACNA1G_uc002irs.1_Missense_Mutation_p.L1753F|CACNA1G_uc002irt.1_Missense_Mutation_p.L1746F|CACNA1G_uc002iru.1_Missense_Mutation_p.L1730F|CACNA1G_uc002irv.1_Missense_Mutation_p.L1753F|CACNA1G_uc002irw.1_Missense_Mutation_p.L1741F|CACNA1G_uc002irx.1_Missense_Mutation_p.L1677F|CACNA1G_uc002iry.1_Missense_Mutation_p.L1666F|CACNA1G_uc002isg.1_Missense_Mutation_p.L1625F|CACNA1G_uc002ish.1_Missense_Mutation_p.L1632F|CACNA1G_uc002isi.1_Missense_Mutation_p.L1620F|CACNA1G_uc002irz.1_Missense_Mutation_p.L1670F|CACNA1G_uc002isa.1_Missense_Mutation_p.L1643F|CACNA1G_uc002isd.1_Missense_Mutation_p.L1652F|CACNA1G_uc002isb.1_Missense_Mutation_p.L1684F|CACNA1G_uc002isc.1_Missense_Mutation_p.L1666F|CACNA1G_uc002ise.1_Missense_Mutation_p.L1632F|CACNA1G_uc002isf.1_Missense_Mutation_p.L1659F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1764					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCGTGGAGCTCTTTGGAGA	0.562000														70			6		0	0	0.003080	0	0
VPS13D	55187	broad.mit.edu	37	1	12416123	12416123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:12416123C>T	uc001atv.3	+	47	9988	c.9847C>T	c.(9847-9849)Cca>Tca	p.P3283S	VPS13D_uc001atw.3_Missense_Mutation_p.P3258S|VPS13D_uc001atx.3_Missense_Mutation_p.P2470S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3282					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATTTCTGCTCCATATTGGCT	0.448000														47			5		0	0	0.001984	0	0
ODZ4	26011	broad.mit.edu	37	11	78369243	78369244	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:78369243_78369244CC>TT	uc001ozl.4	-	33	8632_8633	c.8169_8170GG>AA	c.(8167-8172)ggggag>ggAAag	p.E2724K	ODZ4_uc001ozk.4_Missense_Mutation_p.E949K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2724					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						TGCTGCTTCTCCCCCTCTGTCC	0.653000														105			16		0	0	0.004672	0	0
C3orf71	646450	broad.mit.edu	37	3	48956246	48956246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:48956246G>A	uc010hkk.1	-	0	573	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	113						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						CCCCGATCCGGAAGTGACGCA	0.687000														38			8		0	0	0.004482	0	0
DPH2	1802	broad.mit.edu	37	1	44437691	44437692	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:44437691_44437692CC>TT	uc001ckz.3	+	3	1312_1313	c.1117_1118CC>TT	c.(1117-1119)cca>TTa	p.P373L	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Missense_Mutation_p.P238L|DPH2_uc001clb.3_Missense_Mutation_p.P297L|ATP6V0B_uc001cld.3_5'Flank|ATP6V0B_uc001cle.3_5'Flank|ATP6V0B_uc001clf.3_5'Flank	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	373					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCCTGCCTGGCCACCTCCAGGC	0.599000														74			23		0	0	0.004672	0	0
PSD4	23550	broad.mit.edu	37	2	113950695	113950695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:113950695C>T	uc002tjc.3	+	6	2092	c.1909C>T	c.(1909-1911)Cga>Tga	p.R637*	PSD4_uc002tjd.3_Nonsense_Mutation_p.R258*|PSD4_uc002tje.3_Nonsense_Mutation_p.R608*|PSD4_uc002tjf.3_Nonsense_Mutation_p.R258*	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	637	SEC7.		R -> Q (in dbSNP:rs45487591).		regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGTCTGGACCGAGCCCTCCG	0.597000														54			7		0	0	0.003080	0	0
LILRA5	353514	broad.mit.edu	37	19	54823298	54823298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:54823298C>T	uc002qfe.3	-	3	365	c.245G>A	c.(244-246)gGa>gAa	p.G82E	LILRA5_uc002qff.3_Missense_Mutation_p.G70E|LILRA5_uc010yev.2_Missense_Mutation_p.G82E|LILRA5_uc010yew.2_Missense_Mutation_p.G70E|LILRA5_uc002qfg.1_Missense_Mutation_p.G82E|LILRA5_uc002qfh.1_Missense_Mutation_p.G70E	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	82	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGGGCTTCCCTCTTTAAC	0.597000														115			21		0	0	0.001523	0	0
TAF1L	138474	broad.mit.edu	37	9	32631080	32631080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:32631080G>A	uc003zrg.1	-	0	4588	c.4498C>T	c.(4498-4500)Ctt>Ttt	p.L1500F	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1500					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCTTTAAGTTTTTCATCA	0.408000														43			8		0	0	0.000673	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182620	133182620	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:133182620C>T	uc003ytj.3	-	7	1421	c.1196G>A	c.(1195-1197)tGg>tAg	p.W399*	KCNQ3_uc003yti.3_Nonsense_Mutation_p.W279*|KCNQ3_uc010mdt.3_Nonsense_Mutation_p.W399*	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	399					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATAAAATCTCCATGTCGCCAC	0.532000														32			5		0	0	0.001168	0	0
PRRC2C	23215	broad.mit.edu	37	1	171553299	171553299	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:171553299C>T	uc010pmg.2	+	28	7874	c.7608C>T	c.(7606-7608)tcC>tcT	p.S2536S	PRRC2C_uc010pmh.2_Silent_p.S1448S|PRRC2C_uc010pmi.2_Silent_p.S373S|PRRC2C_uc010pmj.2_Silent_p.S63S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2536	Gln-rich.						protein C-terminus binding										TAGGAGGTTCCCAGCTGATTG	0.448000														38			5		0	0	0.001168	0	0
abParts	0	broad.mit.edu	37	14	106725137	106725137	+	RNA	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:106725137C>T	uc021ser.1	-	928		c.22341G>A								Parts of antibodies, mostly variable regions.																		CCGCTGATTTCCCCCCCATCG	0.587000														40			7		0	0	0.001984	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785546	209785546	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:209785546A>C	uc001hhd.3	+	10	1427	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	CAMK1G_uc001hhf.4_Missense_Mutation_p.K442T|CAMK1G_uc001hhe.3_Missense_Mutation_p.K442T	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	442						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCCTCAAAAAGGCCAACAAA	0.532000														73			12		0	0	0.001368	0	0
H3F3C	440093	broad.mit.edu	37	12	31945009	31945009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:31945009G>A	uc001rkr.3	-	0	167	c.92C>T	c.(91-93)cCc>cTc	p.P31L		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	31					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T30I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GCAGGTAGAGGGGGTGCTTTT	0.587000										HNSCC(67;0.2)				83			15		0	0	0.004007	0	0
SORCS3	22986	broad.mit.edu	37	10	106959778	106959778	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:106959778C>T	uc001kyi.1	+	14	2258	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	677						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTTCAGCCTCCGCTCCGAAT	0.498000														13			3		0	0	0.004672	0	0
ABCC10	89845	broad.mit.edu	37	6	43402442	43402442	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:43402442C>T	uc003ouy.1	+	3	1679	c.1464C>T	c.(1462-1464)tgC>tgT	p.C488C	ABCC10_uc003ouz.1_Silent_p.C445C|ABCC10_uc010jyo.1_5'Flank	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	488	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TAGAGGCCTGCCGGGCTCGAG	0.592000														155			56		0	0	0.003610	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415641	19415641	+	RNA	SNP	A	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:19415641A>T	uc010tcj.1	-	0		c.30469T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		aaaaaaaaaaaaacccaaaca	0.418000														36			4		0	0	0.000248	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938448	30938448	+	RNA	SNP	A	G	G	rs146574312	by1000genomes	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:30938448A>G	uc010azv.1	+	10		c.1258A>G			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTATTTGTGCATGGTGGCTGG	0.483000														15			3		0	0	0.000602	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543088	133543088	+	Silent	SNP	C	T	T	rs142356779		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:133543088C>T	uc002ttp.3	-	13	1670	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	432							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCCTTCATTCGAGTTCATGC	0.463000														40			6		0	0	0.001168	0	0
DRD5	1816	broad.mit.edu	37	4	9784016	9784016	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:9784016C>T	uc003gmb.4	+	0	759	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	121					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTCGACATCATGTGCTCCA	0.617000														65			8		0	0	0.003080	0	0
CMTM2	146225	broad.mit.edu	37	16	66613691	66613691	+	Missense_Mutation	SNP	G	A	A	rs9925443	byFrequency	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:66613691G>A	uc002ept.3	+	0	341	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	CMTM2_uc010cdu.3_Missense_Mutation_p.E61K	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	61					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GCCCAAGCACGAAGTGGGCAC	0.557000														96			13		0	0	0.003163	0	0
OXR1	55074	broad.mit.edu	37	8	107705067	107705067	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:107705067T>A	uc011lht.2	+	5	739	c.640T>A	c.(640-642)Ttt>Att	p.F214I	OXR1_uc022azp.1_Missense_Mutation_p.F213I|OXR1_uc003ymf.3_Missense_Mutation_p.F213I|OXR1_uc011lhu.2_Missense_Mutation_p.F206I|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.F146I|OXR1_uc003ymi.1_Missense_Mutation_p.F125I	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	214	GRAM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TACTGAGAAATTTCTTAAAAT	0.358000														30			10		0	0	0.006214	0	0
MPEG1	219972	broad.mit.edu	37	11	58980257	58980257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:58980257C>T	uc001nnu.4	-	0	238	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	28						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ACTCCAACTTCGTCCATCTCT	0.557000														41			6		0	0	0.003080	0	0
RBM15B	29890	broad.mit.edu	37	3	51430259	51430259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:51430259C>T	uc003dbd.3	+	0	1561	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	477	RRM 3.				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGGGGTTTTCCCTTGGGTGG	0.562000														94			16		0	0	0.004007	0	0
RCAN1	1827	broad.mit.edu	37	21	35895908	35895908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:35895908G>A	uc002yue.3	-	1	425	c.353C>T	c.(352-354)tCc>tTc	p.S118F	RCAN1_uc002yuc.3_Missense_Mutation_p.S37F|RCAN1_uc002yud.3_5'UTR|RCAN1_uc002yub.3_Missense_Mutation_p.S63F|RCAN1_uc011adx.1_Missense_Mutation_p.S63F	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	118					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						ATCTGCTGCGGAGAAGGGGTT	0.443000														665			75		0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	50779744	50779744	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:50779744G>A	uc021vhh.1	-	7	2661	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	NRXN1_uc002rxb.4_Silent_p.F252F|NRXN1_uc021vhg.1_Silent_p.F620F|NRXN1_uc021vhi.1_Silent_p.F616F|NRXN1_uc021vhj.1_Silent_p.F576F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	580	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTCTCTCTGGAAGTCCACAT	0.453000														94			17		0	0	0.007413	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051031	110051032	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:110051031_110051032GT>AA	uc021org.1	-	0	503_504	c.503_504AC>TT	c.(502-504)aac>aTT	p.N168I	AMIGO1_uc001dxx.4_Missense_Mutation_p.N168I	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	168					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GAGAGATCTGGTTCTGGCTCAA	0.530000														232			20		0	0	0.004672	0	0
LPCAT1	79888	broad.mit.edu	37	5	1474742	1474743	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:1474742_1474743CC>TT	uc003jcm.3	-	9	1074_1075	c.957_958GG>AA	c.(955-960)gcggaa>gcAAaa	p.E320K		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	320					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AGCTGTCCTTCCGCCAGGGCCA	0.619000														35			6		0	0	0.004672	0	0
CAST	831	broad.mit.edu	37	5	96065389	96065389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:96065389C>T	uc011cuo.1	+	6	482	c.398C>T	c.(397-399)tCa>tTa	p.S133L	CAST_uc003klt.3_Missense_Mutation_p.S87L|CAST_uc021ybr.1_Missense_Mutation_p.S148L|CAST_uc003klx.3_Missense_Mutation_p.S129L|CAST_uc003klz.1_Missense_Mutation_p.S87L|CAST_uc011cup.2_Missense_Mutation_p.S65L|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Missense_Mutation_p.S87L|CAST_uc021ybt.1_Missense_Mutation_p.S65L|CAST_uc011cut.2_Missense_Mutation_p.S65L|CAST_uc011cur.2_Missense_Mutation_p.S73L|CAST_uc011cus.2_Missense_Mutation_p.S87L|CAST_uc003kma.2_Missense_Mutation_p.S46L|CAST_uc003kmd.3_Missense_Mutation_p.S65L	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	87							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GTTTCCAGATCAGCTGAACAG	0.423000														32			5		0	0	0.000602	0	0
EXOSC5	56915	broad.mit.edu	37	19	41898821	41898821	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:41898821G>A	uc002oqo.3	-	1	236	c.213C>T	c.(211-213)ttC>ttT	p.F71F	BCKDHA_uc002oqm.4_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	71					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TGGCCTTGTTGAAAATCTCTT	0.572000														88			13		0	0	0.002450	0	0
DRGX	644168	broad.mit.edu	37	10	50594617	50594617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:50594617G>A	uc010qgq.2	-	4	448	c.448C>T	c.(448-450)Cct>Tct	p.P150S	DRGX_uc021pqd.1_Missense_Mutation_p.P145S	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	150					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGCCCTGCAGGACCTACCGTT	0.627000														7			4		0	0	0.000602	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813481	106813481	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:106813481C>A	uc003ymd.3	+	7	1194	c.1171C>A	c.(1171-1173)Ctt>Att	p.L391I	ZFPM2_uc011lhs.2_Missense_Mutation_p.L122I	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	391					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TAGCGGCAAACTTCCCAGAGA	0.517000														41			7		0.00198382	0.00263192	0.001984	1	0
RGS12	6002	broad.mit.edu	37	4	3417784	3417785	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:3417784_3417785CC>TT	uc003ggw.3	+	6	3267_3268	c.2363_2364CC>TT	c.(2362-2364)gcc>gTT	p.A788V	RGS12_uc003ggu.2_Missense_Mutation_p.A788V|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.A788V|RGS12_uc003ggy.1_Missense_Mutation_p.A186V|RGS12_uc010ict.1_Missense_Mutation_p.A140V|RGS12_uc003ggz.3_Missense_Mutation_p.A140V|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.2_Missense_Mutation_p.A130V|RGS12_uc003gha.3_Missense_Mutation_p.A130V|RGS12_uc010icv.3_5'UTR|RGS12_uc003ghb.2_5'UTR	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	788	RGS.					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)		GACAGCCAGGCCCAGCTAGCAG	0.599000														56			7		0	0	0.004672	0	0
BMPER	168667	broad.mit.edu	37	7	34009962	34009962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:34009962G>A	uc011kap.2	+	5	798	c.424G>A	c.(424-426)Ggg>Agg	p.G142R		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	142	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACAGAGTCTGGGGTGCGCTG	0.493000														46			7		0	0	0.003080	0	0
POLR2A	5430	broad.mit.edu	37	17	7402610	7402610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:7402610C>T	uc002ghf.4	+	9	1857	c.1471C>T	c.(1471-1473)Ccg>Tcg	p.P491S	POLR2A_uc002ghe.3_Missense_Mutation_p.P491S	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	491					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGTGACAACTCCGTACAATGC	0.547000														46			8		0	0	0.003080	0	0
ADAM18	8749	broad.mit.edu	37	8	39564371	39564371	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:39564371C>T	uc003xni.3	+	17	2020	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.F631F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	655					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.F655I(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTGTAAATTCCAGTTTGGTT	0.338000														69			21		0	0	0.003954	0	0
MRPL38	64978	broad.mit.edu	37	17	73895042	73895042	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:73895042G>A	uc010wso.1	-	8	1257	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	FBF1_uc002jqa.1_Non-coding_Transcript|TRIM65_uc002jpx.3_5'Flank|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA.	344						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGCCGCACGAACTCAAACA	0.672000														23			5		0	0	0.001168	0	0
PRSS22	64063	broad.mit.edu	37	16	2906157	2906157	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:2906157C>T	uc002cry.1	-	2	273	c.207G>A	c.(205-207)aaG>aaA	p.K69K		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GGGTCCCATTCTTCTGGATGC	0.627000														101			11		0	0	0.000978	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004256	102004256	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:102004256C>T	uc022cbi.1	+	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F	BHLHB9_uc010nog.3_Silent_p.F111F|BHLHB9_uc011mrq.2_Silent_p.F111F|BHLHB9_uc011mrr.2_Silent_p.F111F|BHLHB9_uc011mrs.2_Silent_p.F111F|BHLHB9_uc011mrt.2_Silent_p.F111F|BHLHB9_uc004ejo.3_Silent_p.F111F|BHLHB9_uc011mru.2_Silent_p.F111F|BHLHB9_uc011mrv.2_Silent_p.F111F	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	111						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATGCCTGGTTCTGGGCTGGGG	0.493000														85			18		0	0	0.006122	0	0
MLL2	8085	broad.mit.edu	37	12	49434651	49434652	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49434651_49434652GG>AA	uc001rta.4	-	30	6901_6902	c.6901_6902CC>TT	c.(6901-6903)ccc>TTc	p.P2301F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2301	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGGTTTGGGGGCCCATAGCTA	0.614000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				64			11		0	0	0.004672	0	0
FNBP1	23048	broad.mit.edu	37	9	132678258	132678258	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:132678258A>C	uc004byw.1	-	11	1390	c.1171_splice	c.e11-1	p.L391_splice	FNBP1_uc011mbv.1_Splice_Site_p.L381_splice|FNBP1_uc011mbw.1_Intron|FNBP1_uc004bza.2_Intron|FNBP1_uc004byz.1_Splice_Site_p.L362_splice|FNBP1_uc011mbu.1_Splice_Site_p.L19_splice|FNBP1_uc004byx.1_Intron|FNBP1_uc004byy.1_Intron	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	391	Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTTGAGAGAAAGCTTCATGTA	0.393000			T	MLL	AML									16			3		0	0	0.004672	0	0
IQCF1	132141	broad.mit.edu	37	3	51937102	51937102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:51937102C>T	uc003dbv.3	-	1	105	c.7G>A	c.(7-9)Gag>Aag	p.E3K	IQCF1_uc003dbq.4_Non-coding_Transcript	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	3										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCTGCTTCTCCTCCTGCAAT	0.527000														255			48		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	2	90139548	90139548	+	RNA	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:90139548A>G	uc010yts.2	+	30		c.3606A>G								Parts of antibodies, mostly variable regions.																		AGATTTTGCAACTTATTACTG	0.512000														11			3		0	0	0.001168	0	0
MLL2	8085	broad.mit.edu	37	12	49432233	49432233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49432233G>A	uc001rta.4	-	33	8906	c.8906C>T	c.(8905-8907)tCg>tTg	p.S2969L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2969	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTCAGTGCTCGACGGGGGCCG	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				157			27		0	0	0.001512	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766838	77766838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:77766838C>T	uc003yau.2	+	9	8068	c.7681C>T	c.(7681-7683)Cct>Tct	p.P2561S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2516S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2516						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAAATGCCCCCTCAGGCCAG	0.493000										HNSCC(33;0.089)				24			7		0	0	0.001984	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794781	124794781	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:124794781G>A	uc001qbk.3	-	1	676	c.270C>T	c.(268-270)acC>acT	p.T90T	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Silent_p.T90T	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	90	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CAGGCCGCAGGGTGCCGATGA	0.592000														111			14		0	0	0.004990	0	0
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:55890553G>A	uc001nii.1	+	0	705	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413000														19			3		0	0	0.004672	0	0
PNPLA6	10908	broad.mit.edu	37	19	7626392	7626392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:7626392C>T	uc010xjq.2	+	33	4312	c.4072C>T	c.(4072-4074)Ctc>Ttc	p.L1358F	PNPLA6_uc002mgq.2_Missense_Mutation_p.L1310F|PNPLA6_uc010xjp.2_Missense_Mutation_p.L1283F|PNPLA6_uc002mgr.2_Missense_Mutation_p.L1310F|PNPLA6_uc002mgs.3_Missense_Mutation_p.L1348F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1349					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GAAGTCGATTCTCCGGCAACG	0.652000														20			5		0	0	0.001984	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954433	12954433	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:12954433G>A	uc001auo.3	-	2	923	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	284										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCTCCAGGTGCTCTTTG	0.448000														68			10		0	0	0.004990	0	0
C7orf60	154743	broad.mit.edu	37	7	112462260	112462260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:112462260G>A	uc011kms.1	-	5	962	c.835C>T	c.(835-837)Cct>Tct	p.P279S	C7orf60_uc003vgo.1_Missense_Mutation_p.P253S	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	253										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CGCTGGTAAGGAGATGGAAAA	0.403000														15			4		0	0	0.000248	0	0
CHST11	50515	broad.mit.edu	37	12	105151222	105151222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:105151222G>A	uc001tkz.3	+	2	1198	c.700G>A	c.(700-702)Gat>Aat	p.D234N	CHST11_uc001tky.3_Missense_Mutation_p.D229N	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	234					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CAAAGGGGACGATGTCAAATT	0.562000														63			4		0	0	0.000602	0	0
ENC1	8507	broad.mit.edu	37	5	73931417	73931417	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:73931417G>A	uc003kdc.4	-	1	2025	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ENC1_uc011css.2_Silent_p.F225F|ENC1_uc021yao.1_Silent_p.F298F	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	298					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCCCAGAAGGAAGAGGGCAT	0.507000														80			12		0	0	0.000978	0	0
DYSF	8291	broad.mit.edu	37	2	71740985	71740985	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:71740985G>A	uc010fen.3	+	6	834	c.693G>A	c.(691-693)ggG>ggA	p.G231G	DYSF_uc010fei.3_Silent_p.G230G|DYSF_uc010feh.3_Silent_p.G199G|DYSF_uc002sig.4_Silent_p.G199G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.G230G|DYSF_uc010fee.3_Silent_p.G199G|DYSF_uc010fef.3_Silent_p.G230G|DYSF_uc002sie.3_Silent_p.G199G|DYSF_uc010feo.3_Silent_p.G231G|DYSF_uc010fej.3_Silent_p.G200G|DYSF_uc010fel.3_Silent_p.G200G|DYSF_uc010fem.3_Silent_p.G200G|DYSF_uc002sif.3_Silent_p.G200G|DYSF_uc010fek.3_Silent_p.G231G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	199	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTACCCCGGGATCAAAAGAA	0.587000														49			4		0	0	0.000602	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605331	140605331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:140605331G>A	uc003ljb.3	+	0	2254	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	752					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E752K(2)|p.Y751Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAATACGAGGTGTGTCT	0.572000														201			22		0	0	0.002299	0	0
USP26	83844	broad.mit.edu	37	X	132161158	132161158	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:132161158A>G	uc011mvf.2	-	0	1143	c.1091T>C	c.(1090-1092)cTt>cCt	p.L364P	USP26_uc010nrm.1_Missense_Mutation_p.L364P	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	364			L -> F.		protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L364P(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGCCTTTTTAAGATTCAAGAG	0.373000														26			3		0	0	0.004672	0	0
ATP2B4	493	broad.mit.edu	37	1	203680092	203680092	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:203680092C>T	uc001gzw.3	+	11	2784	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	ATP2B4_uc001gzv.3_Silent_p.P629P|ATP2B4_uc009xaq.3_Silent_p.P629P	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	629					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCATCGAGCCCATGGCCTGTG	0.522000														12			5		0	0	0.000602	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283948	151283949	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:151283948_151283949GC>AA	uc004ffj.3	-	2	236_237	c.64_65GC>TT	c.(64-66)gcc>TTc	p.A22F	MAGEA5_uc022cgy.1_Missense_Mutation_p.A22F	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	22	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCCAGGGCCTCTTCTTGG	0.629000														62			8		0	0	0.004672	0	0
GAPVD1	26130	broad.mit.edu	37	9	128083743	128083743	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:128083743A>C	uc004bpp.3	+	7	1794	c.1634A>C	c.(1633-1635)cAa>cCa	p.Q545P	GAPVD1_uc011lzs.1_Missense_Mutation_p.Q545P|GAPVD1_uc004bpq.3_Missense_Mutation_p.Q545P|GAPVD1_uc010mwx.3_Missense_Mutation_p.Q545P|GAPVD1_uc004bpr.3_Missense_Mutation_p.Q545P|GAPVD1_uc004bps.3_Missense_Mutation_p.Q545P|GAPVD1_uc010mwy.1_Missense_Mutation_p.Q404P	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	545					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GATGGAGGACAAGGAGATGTC	0.383000														51			4		0	0	0.000248	0	0
PSG4	5672	broad.mit.edu	37	19	43414918	43414918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:43414918C>T	uc002ovj.1	-	2	619	c.520G>A	c.(520-522)Gat>Aat	p.D174N	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.D174N	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	175	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAGCTTGCATCCGGAGTCTCA	0.537000														125			34		0	0	0.002096	0	0
SLC6A11	6538	broad.mit.edu	37	3	10960088	10960088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:10960088G>A	uc003bvz.3	+	7	1104	c.1070G>A	c.(1069-1071)gGt>gAt	p.G357D		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	357					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TCAGTCCTGGGTTTTATGGCG	0.587000														43			8		0	0	0.004482	0	0
HIF3A	64344	broad.mit.edu	37	19	46832553	46832553	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:46832553G>A	uc002peh.3	+	11	1561	c.1530G>A	c.(1528-1530)agG>agA	p.R510R	HIF3A_uc002peg.4_Silent_p.R510R|HIF3A_uc021uwf.1_Silent_p.R454R|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Silent_p.R441R|HIF3A_uc002pel.3_Silent_p.R508R|HIF3A_uc010xxz.2_Silent_p.R459R	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	510	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTACCCAGGGCCTACCACA	0.652000														105			16		0	0	0.004007	0	0
USP39	10713	broad.mit.edu	37	2	85866352	85866352	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:85866352C>T	uc002sqe.3	+	8	1158	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	USP39_uc002sqb.3_Silent_p.L105L|USP39_uc010ysu.2_Silent_p.L296L|USP39_uc010ysv.2_Silent_p.L271L|USP39_uc010fgn.1_Silent_p.L374L|USP39_uc002sqg.3_Silent_p.L374L|USP39_uc010fgo.3_Silent_p.L374L	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	374					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGCAGTTGCTCCATAATGACG	0.478000														31			5		0	0	0.001168	0	0
TNN	63923	broad.mit.edu	37	1	175048471	175048471	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:175048471C>T	uc001gkl.1	+	2	525	c.412C>T	c.(412-414)Cta>Tta	p.L138L	TNN_uc010pmx.1_Silent_p.L138L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	138					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTCCCAGATCTAAGCCGCCA	0.622000														25			4		0	0	0.001168	0	0
STRADA	92335	broad.mit.edu	37	17	61781861	61781861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:61781861G>A	uc002jbm.3	-	10	1214	c.940C>T	c.(940-942)Cct>Tct	p.P314S	STRADA_uc002jbn.3_Missense_Mutation_p.P256S|STRADA_uc010wpq.2_Missense_Mutation_p.P270S|STRADA_uc010wpr.2_Missense_Mutation_p.P285S|STRADA_uc002jbo.3_Missense_Mutation_p.P277S|STRADA_uc002jbp.3_Missense_Mutation_p.P277S|STRADA_uc010ddw.3_Missense_Mutation_p.P285S|STRADA_uc002jbr.3_3'UTR	NM_001003787	NP_001003788	Q7RTN6	STRAA_HUMAN	Homo sapiens STE20-related kinase adaptor alpha (STRADA), transcript variant 1, mRNA.	314	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GAGCGCGAAGGGCTCATGGTC	0.637000														96			14		0	0	0.007413	0	0
TGM5	9333	broad.mit.edu	37	15	43552346	43552346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:43552346G>A	uc001zrd.2	-	2	348	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	114					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AAGAGGTACCGACCCACGGCC	0.612000														149			14		0	0	0.002450	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944201	50944201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:50944201G>A	uc002psf.2	+	7	688	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	213					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CATCCCCCCGGAGATTTGGGA	0.577000														32			14		0	0	0.002450	0	0
DDN	23109	broad.mit.edu	37	12	49390535	49390535	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49390535C>T	uc001rsv.1	-	1	2142	c.2124G>A	c.(2122-2124)agG>agA	p.R708R		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	708	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACTGCCTCTTCCTATTTCCCT	0.547000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			13		0	0	0.003163	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143604	61143604	+	RNA	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:61143604G>A	uc021wfy.1	-	0		c.279C>T			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		GGGGCTAAGGGGCCACTTGGG	0.652000														68			11		0	0	0.000673	0	0
POTEC	388468	broad.mit.edu	37	18	14511935	14511935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:14511935C>T	uc010dln.3	-	10	2045	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	531										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCAATTTCTTCCTGCAACATG	0.358000														15			4		0	0	0.000248	0	0
FAM113B	91523	broad.mit.edu	37	12	47629420	47629420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:47629420G>A	uc001rpq.3	+	1	1099	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	FAM113B_uc001rpn.3_Missense_Mutation_p.E192K|FAM113B_uc021qxi.1_Missense_Mutation_p.E192K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	192							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CCTGAAAAACGAAGTGGTCAA	0.582000														48			6		0	0	0.001168	0	0
SEPT14	346288	broad.mit.edu	37	7	55874819	55874819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:55874819C>T	uc003tqz.2	-	7	1067	c.950G>A	c.(949-951)gGc>gAc	p.G317D		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	317					cell cycle|cell division	septin complex	GTP binding|protein binding	p.G317F(2)|p.G317V(2)|p.G106V(1)|p.G106F(1)|p.G317C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGTAAAGCCCATTTTCTG	0.383000														72			9		0	0	0.004482	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813462	106813462	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:106813462C>T	uc003ymd.3	+	7	1175	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	ZFPM2_uc011lhs.2_Silent_p.L115L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	384					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCAGGAGCTCCATGTCCCTA	0.507000														57			8		0	0	0.003080	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006337	118006337	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:118006337G>A	uc003ibv.4	-	0	400	c.213C>T	c.(211-213)tcC>tcT	p.S71S		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	71					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AATAATAGAGGGACTTTGAGC	0.453000														38			6		0	0	0.001984	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911402	74911402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:74911402C>T	uc001owb.3	+	10	2128	c.1733C>T	c.(1732-1734)aCc>aTc	p.T578I	SLCO2B1_uc010rrq.2_Missense_Mutation_p.T323I|SLCO2B1_uc010rrr.2_Missense_Mutation_p.T434I|SLCO2B1_uc010rrs.2_Missense_Mutation_p.T462I|SLCO2B1_uc001owc.3_Missense_Mutation_p.T351I|SLCO2B1_uc001owd.3_Missense_Mutation_p.T556I	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	578					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GCCTGTCTCACCCACACACCC	0.622000														154			28		0	0	0.002836	0	0
SYT15	83849	broad.mit.edu	37	10	46967552	46967552	+	Silent	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:46967552T>C	uc001jea.3	-	3	678	c.525A>G	c.(523-525)caA>caG	p.Q175Q	SYT15_uc001jdz.2_Silent_p.Q175Q|SYT15_uc001jeb.3_Silent_p.Q53Q|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	175	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCGAGGGGGCTTGCAGGTGCT	0.637000														147			10		0	0	0.006214	0	0
KANK4	163782	broad.mit.edu	37	1	62739414	62739414	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:62739414G>A	uc001dah.4	-	2	1739	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	454										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCCCCCATAGGAGGCCATTCT	0.567000														190			34		0	0	0.003271	0	0
CA6	765	broad.mit.edu	37	1	9019055	9019055	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:9019055C>T	uc001apm.3	+	3	519	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CA6_uc009vmn.3_Silent_p.F105F	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	165					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	p.F165F(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCAGCCTTCGTTGAGGTAA	0.408000														106			24		0	0	0.003330	0	0
PIM1	5292	broad.mit.edu	37	6	37138792	37138792	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:37138792C>T	uc003onk.3	+	2	655	c.225C>T	c.(223-225)tcC>tcT	p.S75S	PIM1_uc011dtw.2_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	166					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	p.S75F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACCGGATTTCCGACTGGGGAG	0.701000			T	BCL6	NHL									141			24		0	0	0.004656	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	38489	38489	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrGL000209.1:38489A>T	uc010yic.2	+	0	10	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.M1L|KIR2DL2_uc002qty.3_Missense_Mutation_p.M1L	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	4					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CATGTCGCTCATGGTCGTCAG	0.617000														50			4		0	0	0.000602	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040888	147040888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:147040888C>T	uc010jgo.1	-	1	398	c.250G>A	c.(250-252)Gag>Aag	p.E84K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E84K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E42K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E84K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	84						Golgi apparatus		p.E84G(1)		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)			GCCTGCAGCTCCTTCATCTTC	0.537000														118			24		0	0	0.002780	0	0
DDX23	9416	broad.mit.edu	37	12	49237795	49237795	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49237795C>A	uc001rsm.3	-	2	339	c.248G>T	c.(247-249)cGg>cTg	p.R83L		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	83	Arg-rich.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R83L(2)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATTCCGATCCCGCTCCTTATC	0.488000														316			6		0.000157383	0.000210476	0.003080	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032136	46032136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:46032136C>T	uc002zfo.1	+	0	141	c.119C>T	c.(118-120)tCc>tTc	p.S40F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	40	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACTGGCTCCTCCTGGCAGGTG	0.642000														86			15		0	0	0.004007	0	0
HRNR	388697	broad.mit.edu	37	1	152188335	152188335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:152188335C>T	uc001ezt.1	-	2	5846	c.5770G>A	c.(5770-5772)Ggt>Agt	p.G1924S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1924					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGCTGACCATAGCTGGAA	0.582000														886			32		0	0	0.004289	0	0
DSP	1832	broad.mit.edu	37	6	7568053	7568053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:7568053G>A	uc003mxp.1	+	9	1459	c.1180G>A	c.(1180-1182)Ggg>Agg	p.G394R	DSP_uc003mxq.1_Missense_Mutation_p.G394R|DSP_uc021yle.1_Missense_Mutation_p.G394R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	394	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.G394W(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATACCTGAAGGGGCTCCAGGA	0.493000														21			10		0	0	0.006214	0	0
ITFG1	81533	broad.mit.edu	37	16	47189662	47189662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:47189662C>T	uc002eet.3	-	17	1866	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	ITFG1_uc010vgg.2_Missense_Mutation_p.E348K|ITFG1_uc010vgh.2_3'UTR	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	603						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CGGTGGGCTTCTTGTCGTTTT	0.333000														66			10		0	0	0.001368	0	0
ITGA2B	3674	broad.mit.edu	37	17	42451818	42451818	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:42451818C>T	uc002igt.1	-	28	2996	c.2964G>A	c.(2962-2964)cgG>cgA	p.R988R	ITGA2B_uc002igu.1_3'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	988					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCTCCAAGGCCCGGAGCAGCT	0.607000														119			12		0	0	0.000978	0	0
F2RL2	2151	broad.mit.edu	37	5	75914172	75914172	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:75914172G>A	uc003kem.3	-	1	545	c.360C>T	c.(358-360)ttC>ttT	p.F120F	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Silent_p.F98F	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	120					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TGGTCCTGAAGAAAAGCATCC	0.453000														40			6		0	0	0.001168	0	0
KLC1	3831	broad.mit.edu	37	14	104123953	104123953	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:104123953G>T	uc001yno.3	+	2	640	c.332G>T	c.(331-333)cGt>cTt	p.R111L	KLC1_uc010tyd.1_Missense_Mutation_p.R270L|KLC1_uc010tye.1_Missense_Mutation_p.R107L|KLC1_uc001ynm.1_Missense_Mutation_p.R111L|KLC1_uc010tyf.2_Missense_Mutation_p.R111L	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	111					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCGCAGGTTCGTCGTCTGTGC	0.537000														73			8		0.000274275	0.000366067	0.004482	1	0
CCNE2	9134	broad.mit.edu	37	8	95897774	95897774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:95897774G>A	uc003yhc.3	-	7	717	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CCNE2_uc003yhd.2_Missense_Mutation_p.P205S	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	205					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TGGAGTTTAGGAGCATAGATT	0.313000														231			75		0	0	0.003610	0	0
POSTN	10631	broad.mit.edu	37	13	38137495	38137495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:38137495C>T	uc001uwo.4	-	22	2604	c.2486G>A	c.(2485-2487)cGa>cAa	p.R829Q	POSTN_uc010tet.2_Missense_Mutation_p.R330Q|POSTN_uc001uwp.4_Missense_Mutation_p.R772Q|POSTN_uc001uwr.3_Missense_Mutation_p.R774Q|POSTN_uc001uwq.3_Missense_Mutation_p.R744Q	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	829					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTCCCTTAATCGTCTTCTAGA	0.303000														33			4		0	0	0.001168	0	0
TPP2	7174	broad.mit.edu	37	13	103279436	103279436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:103279436C>T	uc001vpi.4	+	6	962	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	287					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGGTAGCTCCTGGTGCTCA	0.463000														64			8		0	0	0.004482	0	0
MED13L	23389	broad.mit.edu	37	12	116422133	116422133	+	Silent	SNP	A	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:116422133A>C	uc001tvw.3	-	19	4438	c.4383T>G	c.(4381-4383)cgT>cgG	p.R1461R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1461					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGATCCCGTCACGTAGCACTT	0.488000														18			3		0	0	0.000248	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920492	51920492	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:51920492G>C	uc002pwo.3	-	1	487	c.265C>G	c.(265-267)Cga>Gga	p.R89G	SIGLEC10_uc002pwp.3_Missense_Mutation_p.R89G|SIGLEC10_uc021uyl.1_Missense_Mutation_p.R89G|SIGLEC10_uc002pwq.3_Missense_Mutation_p.R89G|SIGLEC10_uc010ycz.2_Missense_Mutation_p.R89G|SIGLEC10_uc002pws.2_Missense_Mutation_p.R89G|SIGLEC10_uc002pwr.3_Missense_Mutation_p.R89G|SIGLEC10_uc010ycy.2_Missense_Mutation_p.R89G|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	89	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGCTGGAATCGGCCCCGGGTG	0.567000														106			16		0	0	0.004007	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163322	163322	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:163322G>A	uc003jak.2	+	10	2117	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	689					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCCTTCCAGGGGCAGGGGCCA	0.672000														30			6		0	0	0.001168	0	0
COL12A1	1303	broad.mit.edu	37	6	75797361	75797361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:75797361G>A	uc021zbv.1	-	63	9148	c.9113C>T	c.(9112-9114)cCa>cTa	p.P3038L	COL12A1_uc021zbw.1_Missense_Mutation_p.P1874L|COL12A1_uc003phs.3_Missense_Mutation_p.P3038L|COL12A1_uc003pht.3_Missense_Mutation_p.P1874L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3038	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGGAGGACCTGGGGGTCCTCG	0.577000														153			19		0	0	0.001523	0	0
PSG4	5672	broad.mit.edu	37	19	43708311	43708311	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:43708311G>T	uc002ovy.3	-	1	259	c.157C>A	c.(157-159)Cta>Ata	p.L53I	PSG4_uc002ovz.3_Missense_Mutation_p.L53I|PSG4_uc002owb.3_Missense_Mutation_p.L53I	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	53	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGACAAGTAGAAGAACATCC	0.458000														210			24		9.57634e-11	1.29368e-10	0.003330	1	0
TRPC3	7222	broad.mit.edu	37	4	122831397	122831397	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:122831397C>T	uc003ieg.2	-	5	1778	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	TRPC3_uc010inr.2_Silent_p.T440T|TRPC3_uc003ief.2_Silent_p.T495T|TRPC3_uc011cgl.1_Silent_p.T232T	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	483					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTTGTGCCTTCGTTGCCTGAA	0.453000														25			4		0	0	0.000602	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260873	1260873	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:1260873C>T	uc002cks.3	+	20	4373	c.4125C>T	c.(4123-4125)tcC>tcT	p.S1375S	CACNA1H_uc002ckt.3_Silent_p.S1375S|CACNA1H_uc002cku.3_Silent_p.S81S|CACNA1H_uc010brj.3_Silent_p.S81S|CACNA1H_uc002ckv.3_Silent_p.S81S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1375					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCTGGTGTCCCTGGTGGACA	0.682000														153			19		0	0	0.006122	0	0
ODZ1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:123654524C>T	uc010nqy.3	-	17	3208	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	ODZ1_uc011muj.2_Silent_p.T1047T|ODZ1_uc004euj.3_Silent_p.T1048T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1048					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACAGGAATCGTTGAATGTG	0.493000														20			9		0	0	0.000673	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312963	153312963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:153312963G>A	uc001fbo.3	-	6	783	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	PGLYRP4_uc001fbp.3_Missense_Mutation_p.H236Y	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	240					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCGGCAGTGTGGATAATGATG	0.582000														25			12		0	0	0.000978	0	0
UBA7	7318	broad.mit.edu	37	3	49848190	49848190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:49848190G>A	uc003cxr.3	-	10	1477	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	436	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCACCAGGAGGTAGTGCTGG	0.612000														134			10		0	0	0.000673	0	0
ADH1B	125	broad.mit.edu	37	4	100235078	100235078	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:100235078T>C	uc003hus.4	-	5	812	c.728A>G	c.(727-729)aAc>aGc	p.N243S	ADH1B_uc003hut.4_Missense_Mutation_p.N203S|ADH1B_uc011ceh.2_Missense_Mutation_p.N88S|ADH1B_uc011cei.1_Missense_Mutation_p.N203S	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	243					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCTTGAGGGTTGATGCATTC	0.473000														155			19		0	0	0.003330	0	0
C1orf177	163747	broad.mit.edu	37	1	55271814	55271815	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:55271814_55271815GG>AA	uc001cyb.4	+	0	79_80	c.25_26GG>AA	c.(25-27)gga>AAa	p.G9K	C1orf177_uc001cya.4_Missense_Mutation_p.G9K	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	9										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGATGCCGCCGGAGCTCATGGC	0.723000														12			12		0	0	0.004672	0	0
PGS1	9489	broad.mit.edu	37	17	76396765	76396765	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:76396765C>T	uc002jvm.3	+	5	721	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Intron|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	237	PLD phosphodiesterase 1.				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TAGTGCAAACCTGAGTGACTC	0.602000														167			22		0	0	0.002299	0	0
FSD2	123722	broad.mit.edu	37	15	83455736	83455736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:83455736C>T	uc002bjd.2	-	1	574	c.407G>A	c.(406-408)gGg>gAg	p.G136E	FSD2_uc010uol.1_Missense_Mutation_p.G136E|FSD2_uc010uom.1_Missense_Mutation_p.G136E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	136										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGAGCCCCACCCTCCGAAGCC	0.592000														61			5		0	0	0.001168	0	0
FHOD1	29109	broad.mit.edu	37	16	67273330	67273330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:67273330G>A	uc002esl.3	-	1	341	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	FHOD1_uc010ced.3_5'UTR|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	77	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TATCCGGAGGGAGACACTTGC	0.567000														86			12		0	0	0.001368	0	0
PDZD2	23037	broad.mit.edu	37	5	32074434	32074434	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:32074434G>A	uc003jhl.3	+	17	3610	c.3222G>A	c.(3220-3222)tgG>tgA	p.W1074*	PDZD2_uc003jhm.3_Nonsense_Mutation_p.W1074*|PDZD2_uc011cnx.1_Nonsense_Mutation_p.W900*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1074					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAGCTGGTGGAAGAAGGAAC	0.587000														124			21		0	0	0.003330	0	0
CSMD2	114784	broad.mit.edu	37	1	34034989	34034989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:34034989C>T	uc001bxm.1	-	51	8293	c.8116G>A	c.(8116-8118)Gaa>Aaa	p.E2706K	CSMD2_uc001bxn.1_Missense_Mutation_p.E2708K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2708	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGCGGACTTCAGAGCCACTC	0.527000														49			5		0	0	0.000602	0	0
TAF1	6872	broad.mit.edu	37	X	70598119	70598119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:70598119C>T	uc004dzu.4	+	6	1016	c.965C>T	c.(964-966)tCc>tTc	p.S322F	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S343F	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	322	Protein kinase 1.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCCAAATTTTCCCAATCAACT	0.468000														35			4		0	0	0.000248	0	0
C12orf36	283422	broad.mit.edu	37	12	13529165	13529165	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:13529165G>A	uc001rbs.2	-	1	427	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		cacctccacagcctctgagtc	0.498000														40			6		0	0	0.003080	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173220	57173220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:57173220C>T	uc001cyk.4	+	8	1564	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	498					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTACACAGACCAAGATCAAGT	0.473000														68			7		0	0	0.001984	0	0
WBSCR17	64409	broad.mit.edu	37	7	70881033	70881033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:70881033G>A	uc003tvy.3	+	3	748	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	250	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCCCACGTGGAATTCACCGC	0.567000														43			8		0	0	0.003080	0	0
LMNB2	84823	broad.mit.edu	37	19	2433919	2433919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:2433919G>A	uc002lvy.3	-	7	1414	c.1327C>T	c.(1327-1329)Cac>Tac	p.H443Y		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	443	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TGGGCCAGGTGGAAGCCACCG	0.677000														389			45		0	0	0.003214	0	0
ARAP1	116985	broad.mit.edu	37	11	72424253	72424253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:72424253G>A	uc001osu.3	-	4	904	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	ARAP1_uc001osv.3_Missense_Mutation_p.P239S|ARAP1_uc001osr.3_5'UTR|ARAP1_uc001oss.3_5'UTR|ARAP1_uc009yth.3_5'UTR|ARAP1_uc010rre.2_5'UTR	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	239					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGGGCCCCCGGCCCCTCCTCT	0.667000														262			21		0	0	0.002299	0	0
INPP5D	3635	broad.mit.edu	37	2	234078776	234078776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:234078776G>A	uc010zmo.2	+	13	1823	c.1670G>A	c.(1669-1671)gGg>gAg	p.G557E	INPP5D_uc010zmp.2_Missense_Mutation_p.G556E	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	586					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTCTGGTTTGGGGATCTTAAC	0.557000														66			8		0	0	0.003080	0	0
TCFL5	10732	broad.mit.edu	37	20	61485473	61485473	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:61485473G>A	uc002ydp.3	-	4	1368	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	TCFL5_uc002ydo.3_Silent_p.L198L|TCFL5_uc002ydq.3_Silent_p.L424L	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA.	425	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ACGGCACTAAGAGATTCAACT	0.463000														68			6		0	0	0.001168	0	0
ZNF23	7571	broad.mit.edu	37	16	71482269	71482269	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:71482269G>A	uc002faf.3	-	5	2473	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	ZNF23_uc002fah.3_Silent_p.I553I|ZNF23_uc002fad.3_Silent_p.I495I|ZNF23_uc010vmf.2_Silent_p.I495I|ZNF23_uc002fag.3_Silent_p.I495I|ZNF23_uc002fai.3_Silent_p.I592I	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CTCCTGTATGGATTCTCTGGT	0.433000														38			5		0	0	0.000602	0	0
FAM83G	644815	broad.mit.edu	37	17	18881077	18881077	+	Silent	SNP	T	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:18881077T>A	uc002guw.3	-	4	2069	c.1902A>T	c.(1900-1902)tcA>tcT	p.S634S	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	634										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCACTTGCTCTGAGTGGCGCC	0.667000														58			10		0	0	0.000673	0	0
VSTM1	284415	broad.mit.edu	37	19	54561969	54561969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:54561969C>T	uc002qcw.4	-	1	228	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_5'UTR|VSTM1_uc002qcx.4_Missense_Mutation_p.E18K|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Intron	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	18						integral to membrane		p.E18K(2)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTCTCATCTTCGTAGCCCAGA	0.403000														69			13		0	0	0.001368	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43808517	43808517	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:43808517G>A	uc002zbb.2	-	4	642	c.441C>T	c.(439-441)ttC>ttT	p.F147F	TMPRSS3_uc002zaz.2_Silent_p.F20F|TMPRSS3_uc002zba.2_Silent_p.F20F|TMPRSS3_uc002zbc.2_Silent_p.F147F|TMPRSS3_uc002zbd.3_Silent_p.F147F	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	147	SRCR.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTTACCTTGGGAAACCCAGTT	0.483000														81			13		0	0	0.001855	0	0
REST	5978	broad.mit.edu	37	4	57797292	57797293	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:57797292_57797293CC>TT	uc003hch.3	+	3	2615_2616	c.2268_2269CC>TT	c.(2266-2271)gtccag>gtTTag	p.Q757*	REST_uc003hci.3_Nonsense_Mutation_p.Q757*|REST_uc010ihf.3_Nonsense_Mutation_p.Q431*	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	757	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding	p.M753_P768delMEVVQKEPVKIELSPP(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGGAGGTGGTCCAGAAGGAACC	0.550000														247			37		0	0	0.004672	0	0
MAN2C1	4123	broad.mit.edu	37	15	75654998	75654998	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:75654998G>A	uc002bah.3	-	6	899	c.882C>T	c.(880-882)atC>atT	p.I294I	MAN2C1_uc010bkk.3_Intron|MAN2C1_uc002baf.3_Silent_p.I294I|MAN2C1_uc002bag.3_Silent_p.I294I|MAN2C1_uc010umi.1_Silent_p.I76I|MAN2C1_uc010umj.1_Non-coding_Transcript			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	294					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGCAGGCAAAGATGAACTCAG	0.632000														59			8		0	0	0.003080	0	0
HTR1A	3350	broad.mit.edu	37	5	63257242	63257242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:63257242C>T	uc011cqt.2	-	0	305	c.305G>A	c.(304-306)tGg>tAg	p.W102*		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	102					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCCAGTGTCCACTTGTTGAG	0.587000														29			6		0	0	0.001168	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169911	57169911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:57169911G>A	uc001cyk.4	+	6	1127	c.1056G>A	c.(1054-1056)atG>atA	p.M352I		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	352					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTTCTTTTATGGATGATAGTG	0.468000														51			18		0	0	0.006122	0	0
OR6T1	219874	broad.mit.edu	37	11	123814138	123814138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:123814138C>T	uc010sab.2	-	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135P(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CATGGCCATTCATCAGGGTCT	0.552000														18			4		0	0	0.000602	0	0
SDS	10993	broad.mit.edu	37	12	113835157	113835157	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:113835157G>A	uc001tvg.3	-	5	588	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	SDS_uc001tvh.1_Silent_p.L156L	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	156					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTTTCCCACAGTGTCTCCTTC	0.677000														82			14		0	0	0.002450	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957746	152957746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:152957746C>T	uc021ozn.1	+	0	40	c.40C>T	c.(40-42)Cct>Tct	p.P14S	SPRR1A_uc009wnu.2_Missense_Mutation_p.P14S|SPRR1A_uc001faw.3_Missense_Mutation_p.P14S	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	14	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCCCACCCCCTCAGCCTCA	0.517000														69			15		0	0	0.004007	0	0
WSCD2	9671	broad.mit.edu	37	12	108618519	108618519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:108618519G>A	uc001tms.3	+	4	1430	c.686G>A	c.(685-687)gGa>gAa	p.G229E	WSCD2_uc001tmt.3_Missense_Mutation_p.G229E|WSCD2_uc001tmu.3_5'UTR	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	229						integral to membrane		p.G229V(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCTTCAGATGGAAGTGCAGTG	0.522000														59			9		0	0	0.006214	0	0
KTN1	3895	broad.mit.edu	37	14	56084684	56084684	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:56084684T>C	uc001xcb.3	+	4	966	c.664T>C	c.(664-666)Ttc>Ctc	p.F222L	KTN1_uc001xcc.3_Missense_Mutation_p.F222L|KTN1_uc001xcd.3_Missense_Mutation_p.F222L|KTN1_uc001xce.3_Missense_Mutation_p.F222L|KTN1_uc010trb.2_Missense_Mutation_p.F222L|KTN1_uc001xcf.1_Missense_Mutation_p.F222L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	222					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AATTGCAGTCTTCGTAGATGA	0.313000			T	RET	papillary thryoid									20			3		0	0	0.004672	0	0
DHX40	79665	broad.mit.edu	37	17	57648001	57648001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:57648001C>T	uc002ixn.2	+	2	550	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	DHX40_uc010woe.2_Intron|DHX40_uc002ixo.1_Missense_Mutation_p.R36C	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	135	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATACCAAGTTCGTTTTGATGA	0.428000														54			5		0	0	0.000602	0	0
KCNA5	3741	broad.mit.edu	37	12	5153890	5153890	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:5153890C>T	uc001qni.3	+	0	806	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	193						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CAACGTCTCCCTGGACGTGTT	0.617000														76			15		0	0	0.004007	0	0
TRIM14	9830	broad.mit.edu	37	9	100862240	100862240	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:100862240C>T	uc004ayd.2	-	2	528	c.510G>A	c.(508-510)caG>caA	p.Q170Q	TRIM14_uc004ayg.1_Silent_p.Q170Q|TRIM14_uc004ayh.1_Silent_p.Q170Q	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	170						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GATCGGGCTCCTGGCTGATAC	0.532000														50			11		0	0	0.000978	0	0
CDH18	1016	broad.mit.edu	37	5	19747249	19747249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:19747249C>T	uc003jgd.3	-	3	859	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CDH18_uc011cnm.2_Missense_Mutation_p.D109N|CDH18_uc003jgc.3_Missense_Mutation_p.D109N|CDH18_uc021xwu.1_Missense_Mutation_p.D109N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	109	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GAGTGGATATCACCCGTGGTA	0.448000														81			12		0	0	0.001368	0	0
DHRS2	10202	broad.mit.edu	37	14	24108421	24108421	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:24108421G>A	uc001wkt.4	+	2	621	c.174G>A	c.(172-174)cgG>cgA	p.R58R	DHRS2_uc010aku.1_Silent_p.R58R|DHRS2_uc001wku.4_Silent_p.R58R|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	36				L -> V (in Ref. 6; AA sequence).	C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GTCTGGCCCGGGACGGGGCCC	0.642000														175			36		0	0	0.004878	0	0
FGR	2268	broad.mit.edu	37	1	27943740	27943740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:27943740C>T	uc001boj.3	-	3	642	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.G166R|FGR_uc001bol.3_Missense_Mutation_p.G166R|FGR_uc001bom.3_Missense_Mutation_p.G166R	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	166	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAAGGCCCCCTGGGGGTTG	0.602000														95			14		0	0	0.002450	0	0
F11	2160	broad.mit.edu	37	4	187192920	187192920	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:187192920C>T	uc003iza.1	+	2	546	c.213C>T	c.(211-213)acC>acT	p.T71T	F11_uc003iyz.3_Silent_p.T71T	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	71	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGGATCCCACCCGATGGTAAA	0.408000														57			5		0	0	0.000602	0	0
PRDM4	11108	broad.mit.edu	37	12	108147758	108147759	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:108147758_108147759GG>AA	uc001tmp.3	-	3	710_711	c.273_274CC>TT	c.(271-276)acccta>acTTta	p.91_92TL>TL	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	91					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GGTGGAGGTAGGGTGTAGTTTC	0.480000														58			8		0	0	0.004672	0	0
ZFP42	132625	broad.mit.edu	37	4	188924669	188924669	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:188924669C>T	uc003izh.1	+	3	1116	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ZFP42_uc003izi.1_Silent_p.F236F|ZFP42_uc021xvm.1_Silent_p.F236F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	236					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H235N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAGACATTTCCTGGTTCATA	0.512000														59			10		0	0	0.006214	0	0
PRR5L	79899	broad.mit.edu	37	11	36472831	36472831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:36472831C>T	uc001mwo.4	+	7	1047	c.658C>T	c.(658-660)Cct>Tct	p.P220S	PRR5L_uc001mwp.3_Missense_Mutation_p.P220S|PRR5L_uc009ykk.3_Missense_Mutation_p.P92S|PRR5L_uc010rfc.2_Intron	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	220										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AGTGGTTTCTCCTTTCCTCGG	0.532000														59			13		0	0	0.001855	0	0
KLC1	3831	broad.mit.edu	37	14	104123955	104123955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:104123955C>T	uc001yno.3	+	2	642	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	KLC1_uc010tyd.1_Missense_Mutation_p.R271C|KLC1_uc010tye.1_Missense_Mutation_p.R108C|KLC1_uc001ynm.1_Missense_Mutation_p.R112C|KLC1_uc010tyf.2_Missense_Mutation_p.R112C	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	112					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCAGGTTCGTCGTCTGTGCCA	0.532000														75			8		0	0	0.004482	0	0
CD5L	922	broad.mit.edu	37	1	157803059	157803059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:157803059G>A	uc001frk.4	-	4	1105	c.962C>T	c.(961-963)tCc>tTc	p.S321F		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	321	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGCTCCAGGGACTGCTCCTC	0.572000														75			7		0	0	0.001984	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955811	35955811	+	Missense_Mutation	SNP	G	A	A	rs141143848	byFrequency	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:35955811G>A	uc003jjv.2	-	5	1424	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R411W|UGT3A1_uc011cor.2_Missense_Mutation_p.R377W	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	411						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATTCAACCGGATAGAGACA	0.483000														93			11		0	0	0.000978	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021881	34021881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:34021881C>T	uc002xcj.3	+	1	367	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	GDF5_uc010gfc.1_Silent_p.T444T|GDF5_uc002xck.1_Silent_p.T444T					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						CTGCATGATTCGTGGGCTCCA	0.612000														56			12		0	0	0.000978	0	0
ITGAL	3683	broad.mit.edu	37	16	30490500	30490500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:30490500C>T	uc002dyi.4	+	4	592	c.416C>T	c.(415-417)cCc>cTc	p.P139L	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Intron|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	139					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTGCAGGGTCCCATGCTGCAG	0.547000														78			11		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9073638	9073638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:9073638C>T	uc002mkp.3	-	2	14012	c.13808G>A	c.(13807-13809)cGa>cAa	p.R4603Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4605	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R4603Q(5)|p.R236Q(2)|p.G4602G(1)|p.R4603*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCTCTTTTCGTCCAGCAGT	0.502000														11			4		0	0	0.000602	0	0
PAX4	5078	broad.mit.edu	37	7	127253886	127253886	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:127253886G>A	uc010lld.1	-	3	668	c.462C>T	c.(460-462)ccC>ccT	p.P154P	PAX4_uc003vmf.2_Silent_p.P152P|PAX4_uc003vmg.1_Silent_p.P154P|PAX4_uc003vmh.3_Silent_p.P152P	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	162					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGTACCCCGGGGAGTCTCAG	0.572000														62			23		0	0	0.002780	0	0
TTPAL	79183	broad.mit.edu	37	20	43108650	43108650	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:43108650A>C	uc002xmc.1	+	2	135	c.11A>C	c.(10-12)gAa>gCa	p.E4A	TTPAL_uc002xmd.1_Missense_Mutation_p.E4A|TTPAL_uc010ggr.1_5'UTR	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	4						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						ATGTCCGAAGAAAGTGACTCT	0.507000														61			12		0	0	0.003163	0	0
DVL2	1856	broad.mit.edu	37	17	7130544	7130544	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:7130544G>C	uc002gez.1	-	12	1690	c.1408C>G	c.(1408-1410)Cct>Gct	p.P470A	DVL2_uc010vtr.1_Missense_Mutation_p.P464A	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	470	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CGCCGCTCAGGAAAGCCCTCC	0.577000														125			12		0	0	0.004007	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820805	35820805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:35820805G>A	uc010ngt.1	+	1	771	c.492G>A	c.(490-492)atG>atA	p.M164I	MAGEB16_uc022bus.1_Missense_Mutation_p.M164I	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	164	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCTAGAGATGATATTTGGCC	0.468000														61			6		0	0	0.001168	0	0
ST18	9705	broad.mit.edu	37	8	53085133	53085133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:53085133C>T	uc003xqz.2	-	4	444	c.288G>A	c.(286-288)atG>atA	p.M96I	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.M61I|ST18_uc011lds.1_Missense_Mutation_p.M1I|ST18_uc003xra.2_Missense_Mutation_p.M96I|ST18_uc003xrb.2_Missense_Mutation_p.M96I	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	96						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TAGGTTTTATCATGATTTCCT	0.318000														26			4		0	0	0.000602	0	0
KCTD13	253980	broad.mit.edu	37	16	29922374	29922374	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:29922374G>A	uc002duv.3	-	4	869	c.678C>T	c.(676-678)ttC>ttT	p.F226F	BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc021tge.1_Non-coding_Transcript	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 13 (KCTD13), mRNA.	226					DNA replication|cell migration|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CCTGCCCGTAGAAAGACCAGC	0.577000														77			8		0	0	0.003080	0	0
OSMR	9180	broad.mit.edu	37	5	38933161	38933161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:38933161C>T	uc003jln.2	+	17	2957	c.2555C>T	c.(2554-2556)cCc>cTc	p.P852L	OSMR_uc011cpj.2_Missense_Mutation_p.P56L	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	852					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)					GGCCCTGGCCCCTGCATCTGT	0.493000														102			25		0	0	0.004656	0	0
ZBTB40	9923	broad.mit.edu	37	1	22837755	22837755	+	Silent	SNP	G	A	A	rs140676819	byFrequency	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:22837755G>A	uc001bft.2	+	10	2428	c.1917G>A	c.(1915-1917)ccG>ccA	p.P639P	ZBTB40_uc001bfu.2_Silent_p.P639P|ZBTB40_uc009vqi.1_Silent_p.P527P|ZBTB40_uc001bfv.1_Silent_p.P268P	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	639					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AATCAGTCCCGGCCATTGAAA	0.517000														42			10		0	0	0.006214	0	0
NPAS4	266743	broad.mit.edu	37	11	66191061	66191061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:66191061G>A	uc001ohx.1	+	5	997	c.821G>A	c.(820-822)gGa>gAa	p.G274E	NPAS4_uc010rpc.1_Missense_Mutation_p.G64E	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	274					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						GCTGAGAGTGGAGATATTCAG	0.522000														85			9		0	0	0.000978	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190333	32190334	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:32190333_32190334GG>AA	uc003obb.3	-	2	544_545	c.405_406CC>TT	c.(403-408)atccag>atTTag	p.Q136*	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Nonsense_Mutation_p.Q136*	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	136	EGF-like 3.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCCGAGGCCTGGATGTGGCAGC	0.634000														475			63		0	0	0.004672	0	0
FRAS1	80144	broad.mit.edu	37	4	79301095	79301095	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:79301095T>G	uc003hlb.2	+	26	3948	c.3508T>G	c.(3508-3510)Tgg>Ggg	p.W1170G	FRAS1_uc003hkw.3_Missense_Mutation_p.W1170G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1169					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						CCGTTTTAGCTGGAAAGATGT	0.453000														39			7		0	0	0.003080	0	0
ADH1C	126	broad.mit.edu	37	4	100261809	100261809	+	RNA	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:100261809G>A	uc021xqi.1	-	6		c.972C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGAATCAGGAGGTACCCCTAC	0.468000														70			9		0	0	0.000673	0	0
RAD1	5810	broad.mit.edu	37	5	34911751	34911751	+	Silent	SNP	C	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:34911751C>A	uc003jix.3	-	3	803	c.474G>T	c.(472-474)ctG>ctT	p.L158L	RAD1_uc003jiw.3_Silent_p.L49L|RAD1_uc003jiy.3_Silent_p.L158L	NM_002853	NP_002844	O60671	RAD1_HUMAN	Homo sapiens RAD1 homolog (S. pombe) (RAD1), transcript variant 1, mRNA.	158					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CCTCTGACTGCAGAATAATTT	0.423000								Other conserved DNA damage response genes						81			11		2.27111e-07	3.05568e-07	0.001368	1	0
ELOVL6	79071	broad.mit.edu	37	4	110972501	110972501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:110972501G>A	uc003hzz.3	-	4	917	c.791C>T	c.(790-792)gCt>gTt	p.A264V	ELOVL6_uc003iaa.3_Missense_Mutation_p.A264V	NM_001130721	NP_076995	Q9H5J4	ELOV6_HUMAN	Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA.	264					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ACACTATTCAGCTTTCGTTGT	0.438000														25			3		0	0	0.004672	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734763	16734763	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:16734763G>A	uc010vwr.1	-	2	812	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		TCCTCCTTCAGGCCTTCCATC	0.632000														70			6		0	0	0.004482	0	0
TRPM5	29850	broad.mit.edu	37	11	2439807	2439807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:2439807C>T	uc010qxl.2	-	4	673	c.664G>A	c.(664-666)Gag>Aag	p.E222K	TRPM5_uc001lwm.4_Missense_Mutation_p.E222K|TRPM5_uc009ydn.3_Missense_Mutation_p.E224K	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	222						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACAGGGATCTCGATGCTGCCA	0.642000														286			40		0	0	0.002222	0	0
YIPF3	25844	broad.mit.edu	37	6	43483726	43483726	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:43483726G>T	uc003ovl.2	-	1	372	c.189C>A	c.(187-189)gaC>gaA	p.D63E	YIPF3_uc011dvk.2_Missense_Mutation_p.D28E|POLR1C_uc003ovn.3_5'Flank|POLR1C_uc003ovo.2_5'Flank	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Homo sapiens Yip1 domain family, member 3 (YIPF3), mRNA.	63					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CTGCATCAGCGTCTACTTCTT	0.562000														114			14		3.35478e-16	4.55047e-16	0.003163	1	0
OR52M1	119772	broad.mit.edu	37	11	4566953	4566953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:4566953C>T	uc010qyf.2	+	0	533	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGTTATCTCCCACTCCTAC	0.527000														34			6		0	0	0.001984	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541630	96541630	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:96541630A>G	uc010qnz.2	+	4	695	c.695A>G	c.(694-696)aAa>aGa	p.K232R	CYP2C19_uc009xus.1_Missense_Mutation_p.K97R|CYP2C19_uc010qny.2_Missense_Mutation_p.K210R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	232					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACCCATAACAAATTACTTAAA	0.299000														10			3		0	0	0.000248	0	0
TKT	7086	broad.mit.edu	37	3	53263300	53263300	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:53263300G>A	uc003dgo.3	-	8	1432	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	TKT_uc003dgp.2_Silent_p.S52S|TKT_uc011beo.1_Silent_p.S373S|TKT_uc003dgq.3_Silent_p.S420S|TKT_uc011beq.2_Silent_p.S428S|TKT_uc011ber.2_Silent_p.S222S	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	420					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	ACTCACCGATGGAAACGCCGC	0.587000														37			8		0	0	0.003080	0	0
THADA	63892	broad.mit.edu	37	2	43519316	43519317	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:43519316_43519317GG>AA	uc002rsw.4	-	32	5215_5216	c.4863_4864CC>TT	c.(4861-4866)ccccag>ccTTag	p.Q1622*	THADA_uc010far.3_Nonsense_Mutation_p.Q817*|THADA_uc002rsx.4_Nonsense_Mutation_p.Q1622*|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1622							binding	p.Q1622H(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGCTCCGTCTGGGGAAGCCACT	0.475000														385			28		0	0	0.004672	0	0
NHSL2	340527	broad.mit.edu	37	X	71360043	71360043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:71360043C>T	uc011mqa.2	+	5	2645	c.2645C>T	c.(2644-2646)cCa>cTa	p.P882L	NHSL2_uc004eak.1_Missense_Mutation_p.P516L|NHSL2_uc010nli.2_Missense_Mutation_p.P651L	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	882										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CGGAGGCCTCCAAGCTTGGTC	0.552000														39			4		0	0	0.000248	0	0
MDN1	23195	broad.mit.edu	37	6	90402272	90402272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:90402272G>A	uc003pnn.1	-	62	10593	c.10477C>T	c.(10477-10479)Ccc>Tcc	p.P3493S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3493					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.P3493H(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCCGAGTGGGACAGGCTTTC	0.577000														39			6		0	0	0.001168	0	0
PTPRM	5797	broad.mit.edu	37	18	8376576	8376576	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:8376576T>G	uc002knn.4	+	23	3907	c.3404T>G	c.(3403-3405)gTg>gGg	p.V1135G	PTPRM_uc010dkv.3_Missense_Mutation_p.V1148G|PTPRM_uc010wzl.2_Missense_Mutation_p.V922G	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1135	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCACGGAGGGTGAACATGGTG	0.572000														59			10		0	0	0.006214	0	0
TDRD5	163589	broad.mit.edu	37	1	179609005	179609005	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:179609005C>T	uc010pnp.2	+	9	2070	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	TDRD5_uc021pfm.1_Nonsense_Mutation_p.R518*|TDRD5_uc001gnf.2_Nonsense_Mutation_p.R518*|TDRD5_uc021pfn.1_Nonsense_Mutation_p.R518*|TDRD5_uc001gnh.2_Nonsense_Mutation_p.R73*	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	518					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGTTTCTGATCGATATGTCAT	0.383000														83			10		0	0	0.000978	0	0
GAK	2580	broad.mit.edu	37	4	860181	860181	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:860181G>T	uc003gbm.4	-	21	3213	c.3014C>A	c.(3013-3015)cCa>cAa	p.P1005Q	GAK_uc003gbn.4_Missense_Mutation_p.P926Q|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.P858Q	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1005					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCTGCAGGATGGGGGCGGAGC	0.632000														103			10		1.08611e-07	1.46427e-07	0.000978	1	0
WNT3A	89780	broad.mit.edu	37	1	228238562	228238562	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:228238562G>A	uc001hrp.2	+	2	626	c.519G>A	c.(517-519)cgG>cgA	p.R173R	WNT3A_uc001hrq.2_Silent_p.R173R	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	173					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCGACGCCCGGGAGAACCGGC	0.662000														48			5		0	0	0.001168	0	0
COL4A6	1288	broad.mit.edu	37	X	107554042	107554042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:107554042C>T	uc004enw.4	-	2	186	c.83G>A	c.(82-84)gGa>gAa	p.G28E	COL4A6_uc004env.4_Missense_Mutation_p.G27E|COL4A6_uc011msn.2_Missense_Mutation_p.G27E|COL4A6_uc010npk.3_Missense_Mutation_p.G27E|COL4A6_uc004enx.2_Non-coding_Transcript|COL4A6_uc004eny.2_Non-coding_Transcript	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	28	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACATGGCTTTCCATAAGACTT	0.413000									Alport syndrome with Diffuse Leiomyomatosis					57			6		0	0	0.003080	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454713	84454713	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:84454713C>T	uc001vlk.3	-	0	1816	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	310						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGCCTGGGATCTTTGTACCTC	0.537000														71			14		0	0	0.001855	0	0
KCNB2	9312	broad.mit.edu	37	8	73480025	73480026	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:73480025_73480026CC>TT	uc003xzb.3	+	1	644_645	c.56_57CC>TT	c.(55-57)tcc>tTT	p.S19F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	19					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCGACACTTTCCCTTCCTCCAG	0.520000														30			8		0	0	0.004672	0	0
APOB	338	broad.mit.edu	37	2	21228131	21228131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:21228131G>A	uc002red.3	-	25	11737	c.11609C>T	c.(11608-11610)tCt>tTt	p.S3870F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3870					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.F3869F(1)		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)	AGCAGGTACAGAGAACTTAAT	0.473000														141			20		0	0	0.001216	0	0
EOMES	8320	broad.mit.edu	37	3	27761806	27761806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:27761806G>A	uc003cdy.3	-	1	892	c.892C>T	c.(892-894)Cct>Tct	p.P298S	EOMES_uc003cdx.3_Missense_Mutation_p.P298S|EOMES_uc010hfn.2_Missense_Mutation_p.P298S|EOMES_uc011axc.1_Missense_Mutation_p.P3S	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	298					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CTCAAGAAAGGAAACATGCGC	0.537000														151			17		0	0	0.004990	0	0
NEK3	4752	broad.mit.edu	37	13	52728269	52728269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:52728269G>A	uc001vgh.3	-	1	1451	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	NEK3_uc001vgi.3_Missense_Mutation_p.L53F|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.L53F	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	53	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TTGGCTAAAAGAACAGCCTCC	0.299000														22			4		0	0	0.000602	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989317	22989317	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:22989317G>A	uc010gts.2	+	1	304	c.270G>A	c.(268-270)ggG>ggA	p.G90G	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Silent_p.G90G	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	90					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		ACGAGTTTGGGGTGCCCCCCT	0.612000														170			20		0	0	0.003330	0	0
CALCA	796	broad.mit.edu	37	11	14992730	14992730	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:14992730G>A	uc001mlv.1	-	1	60	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CALCA_uc001mlt.2_Silent_p.F3F|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Silent_p.F3F	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	3					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGAACTTTTGGAAGCCCATGA	0.542000														68			8		0	0	0.006214	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546213	112546213	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:112546213C>T	uc003dzi.1	-	3	656	c.430_splice	c.e3+1	p.V144_splice	CD200R1L_uc010hqf.1_Splice_Site_p.V123_splice|CD200R1L_uc011bhw.1_Splice_Site_p.V123_splice	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	144	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						ATGCTCCTTACCTAACACTTG	0.428000														40			5		0	0	0.000602	0	0
LLGL2	3993	broad.mit.edu	37	17	73569591	73569591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:73569591G>A	uc002joh.3	+	20	2909	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	LLGL2_uc002joi.3_Missense_Mutation_p.E919K|LLGL2_uc010dgg.2_Missense_Mutation_p.E919K|LLGL2_uc002joj.3_Missense_Mutation_p.E908K|LLGL2_uc010wsd.2_Missense_Mutation_p.E546K	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	919					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCGGAGTTTGAGCGCTTCTC	0.642000														188			22		0	0	0.003954	0	0
CLDN18	51208	broad.mit.edu	37	3	137742645	137742645	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:137742645G>A	uc003ero.1	+	1	419	c.366G>A	c.(364-366)ggG>ggA	p.G122G	CLDN18_uc003erp.1_Silent_p.G122G|CLDN18_uc010hue.1_Missense_Mutation_p.D118N	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	122					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TGACCTCCGGGATCATGTTCA	0.493000														35			6		0	0	0.006214	0	0
ASH1L	55870	broad.mit.edu	37	1	155348300	155348300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:155348300G>A	uc009wqq.3	-	8	6712	c.6232C>T	c.(6232-6234)Cgt>Tgt	p.R2078C	ASH1L_uc001fkt.3_Missense_Mutation_p.R2073C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2078					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.Y2077Y(1)|p.R2073C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACTTGAACGAATTTTCTTA	0.343000														35			6		0	0	0.001168	0	0
TRPM6	140803	broad.mit.edu	37	9	77448962	77448962	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:77448962G>A	uc004ajl.1	-	5	859	c.621C>T	c.(619-621)atC>atT	p.I207I	TRPM6_uc004ajk.1_Silent_p.I202I|TRPM6_uc022bib.1_Silent_p.I202I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.I207I|TRPM6_uc010mpd.1_Silent_p.I207I|TRPM6_uc010mpe.1_Silent_p.I207I|TRPM6_uc004ajn.1_Silent_p.I207I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	207					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G206G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCCAAGGAGGGATTCCAACTG	0.423000														40			6		0	0	0.001984	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035968	36035968	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:36035968C>T	uc003jjz.2	-	6	1536	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	UGT3A2_uc011cos.2_Silent_p.A434A|UGT3A2_uc011cot.2_Silent_p.A166A	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	468						integral to membrane	glucuronosyltransferase activity	p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGTGCGTCGCGCCCCCTG	0.637000														44			6		0	0	0.001168	0	0
OR8H3	390152	broad.mit.edu	37	11	55890093	55890093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:55890093C>T	uc001nii.1	+	0	245	c.245C>T	c.(244-246)aCc>aTc	p.T82I		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACACCTAAAACCTTAGCGAAC	0.433000														90			11		0	0	0.003163	0	0
GDF2	2658	broad.mit.edu	37	10	48416570	48416570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:48416570C>T	uc001jfa.1	-	0	284	c.124G>A	c.(124-126)Ggg>Agg	p.G42R		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	42					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCAGGCACCCCCAGTGGGCTG	0.637000														39			7		0	0	0.001984	0	0
C15orf2	23742	broad.mit.edu	37	15	24922056	24922056	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:24922056C>T	uc001ywo.3	+	0	1516	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	348	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.R348L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCTGTGGGATCGAGGTGAGCT	0.567000														63			11		0	0	0.000673	0	0
MYO19	80179	broad.mit.edu	37	17	34856791	34856791	+	Silent	SNP	A	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:34856791A>C	uc010wcy.2	-	23	3248	c.2256T>G	c.(2254-2256)ctT>ctG	p.L752L	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Silent_p.L552L	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	752						mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CACATTCCAGAAGCTCCAGCT	0.657000														30			5		0	0	0.001168	0	0
CASZ1	54897	broad.mit.edu	37	1	10707917	10707917	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:10707917C>T	uc001aro.3	-	15	3758	c.3438G>A	c.(3436-3438)acG>acA	p.T1146T	CASZ1_uc001arp.1_Silent_p.T1146T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTAGAGAAGTCGTTGCCAAGG	0.642000														146			12		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9063015	9063015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:9063015C>T	uc002mkp.3	-	2	24635	c.24431G>A	c.(24430-24432)gGa>gAa	p.G8144E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8146	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGGCACTCCAGAAAGGAC	0.542000														22			4		0	0	0.000248	0	0
RBM10	8241	broad.mit.edu	37	X	47035967	47035967	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:47035967G>C	uc004dhi.3	+	6	1069	c.840G>C	c.(838-840)gaG>gaC	p.E280D	RBM10_uc004dhe.2_3'UTR|RBM10_uc004dhf.3_Missense_Mutation_p.E215D|RBM10_uc004dhh.3_Missense_Mutation_p.E215D|RBM10_uc010nhq.3_Missense_Mutation_p.E138D|RBM10_uc004dhg.3_Missense_Mutation_p.E138D	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	215					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGATCAATGAGGACTGGCTGT	0.577000														82			17		0	0	0.006122	0	0
DUOX2	50506	broad.mit.edu	37	15	45387730	45387730	+	Silent	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:45387730A>G	uc001zun.3	-	30	4347	c.4144T>C	c.(4144-4146)Ttg>Ctg	p.L1382L	DUOX2_uc010bea.3_Silent_p.L1382L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1382					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTCCCACCAACACTGACACC	0.547000														82			14		0	0	0.002450	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952318	119952318	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:119952318C>T	uc010inb.3	+	3	2584	c.2388C>T	c.(2386-2388)aaC>aaT	p.N796N	SYNPO2_uc010ina.3_Silent_p.N796N|SYNPO2_uc003icm.4_Silent_p.N796N|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.N724N|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	796	Pro-rich.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACATCCAACCCATCAAAGG	0.567000														52			7		0	0	0.001984	0	0
ADAM33	80332	broad.mit.edu	37	20	3652877	3652877	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:3652877G>A	uc002wit.3	-	13	1588	c.1501C>T	c.(1501-1503)Cta>Tta	p.L501L	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.L501L|ADAM33_uc002wis.3_Silent_p.L23L|ADAM33_uc002wiu.3_Silent_p.L501L|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	501	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCGTCCAGTAGGTAAACGTCT	0.662000														139			16		0	0	0.006122	0	0
ZNF174	7727	broad.mit.edu	37	16	3454462	3454462	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:3454462G>T	uc002cvc.3	+	1	1254	c.439G>T	c.(439-441)Gag>Tag	p.E147*	ZNF174_uc002cva.2_Nonsense_Mutation_p.E147*|ZNF174_uc002cvb.3_Nonsense_Mutation_p.E147*	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	147					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GGTGCTCTTGGAGAAAACTGG	0.522000														248			22		2.50493e-22	3.40466e-22	0.004656	1	0
PLD2	5338	broad.mit.edu	37	17	4722096	4722096	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:4722096C>T	uc002fzc.3	+	20	2277	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	PLD2_uc002fzd.3_Silent_p.I717I	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	717	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGTATTCAATCCTGCATCGCC	0.637000														145			14		0	0	0.007413	0	0
PEX5	5830	broad.mit.edu	37	12	7361078	7361078	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:7361078C>T	uc009zfu.2	+	13	1787	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	PEX5_uc001qsw.3_Nonsense_Mutation_p.Q403*|PEX5_uc010sgc.2_Nonsense_Mutation_p.Q418*|PEX5_uc001qsu.3_Nonsense_Mutation_p.Q366*|PEX5_uc010sgd.2_Nonsense_Mutation_p.Q424*|PEX5_uc001qsv.3_Nonsense_Mutation_p.Q395*	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	403					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCCAGATAACCAGACAGCACT	0.552000														30			7		0	0	0.004482	0	0
TDRD5	163589	broad.mit.edu	37	1	179603594	179603594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:179603594C>T	uc010pnp.2	+	7	1647	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	TDRD5_uc021pfm.1_Nonsense_Mutation_p.Q377*|TDRD5_uc001gnf.2_Nonsense_Mutation_p.Q377*|TDRD5_uc021pfn.1_Nonsense_Mutation_p.Q377*|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	377	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTGTTTAGTTCAGTCAGATAA	0.383000														48			7		0	0	0.001984	0	0
FAT2	2196	broad.mit.edu	37	5	150947448	150947448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:150947448C>T	uc003lue.4	-	0	1058	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S	FAT2_uc010jhx.1_Missense_Mutation_p.G349S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	349					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGAAAGCCCCTGATCTGG	0.522000														99			16		0	0	0.004007	0	0
ILDR1	286676	broad.mit.edu	37	3	121712524	121712524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:121712524G>A	uc003ees.3	-	6	1275	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	ILDR1_uc003eeq.3_Missense_Mutation_p.P326S|ILDR1_uc003eer.3_Missense_Mutation_p.P314S|ILDR1_uc010hrg.3_Missense_Mutation_p.P269S	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	358						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGCCTGGAGGGAATTGGGGTG	0.602000														56			11		0	0	0.001368	0	0
DEFB118	117285	broad.mit.edu	37	20	29956462	29956462	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:29956462C>T	uc002wvr.3	+	0	42	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	3					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCATGAAACTCCTGCTGCTGG	0.493000														86			9		0	0	0.006214	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785234	209785234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:209785234C>T	uc001hhd.3	+	10	1115	c.1013C>T	c.(1012-1014)cCt>cTt	p.P338L	CAMK1G_uc001hhf.4_Missense_Mutation_p.P338L|CAMK1G_uc001hhe.3_Missense_Mutation_p.P338L	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	338						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AACAGGCCGCCTGAAACTCAA	0.602000														109			63		0	0	0.003610	0	0
NLRP7	199713	broad.mit.edu	37	19	55451638	55451638	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:55451638C>T	uc002qih.4	-	3	625	c.549G>A	c.(547-549)ggG>ggA	p.G183G	NLRP7_uc010esk.3_Silent_p.G183G|NLRP7_uc002qig.4_Silent_p.G183G|NLRP7_uc002qii.4_Silent_p.G183G|NLRP7_uc010esl.3_Silent_p.G211G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	183	NACHT.						ATP binding	p.V182M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCGTGGTTTTCCCCACGCCTG	0.562000														143			20		0	0	0.007413	0	0
ANK1	286	broad.mit.edu	37	8	41547811	41547811	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:41547811C>T	uc003xok.3	-	32	4122	c.4038G>A	c.(4036-4038)gcG>gcA	p.A1346A	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.A662A|ANK1_uc003xoi.3_Silent_p.A1346A|ANK1_uc003xoj.3_Silent_p.A1346A|ANK1_uc003xol.3_Silent_p.A1346A|ANK1_uc003xom.3_Silent_p.A1387A	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1346					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A1346A(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTACTTCATCGCCTTGCGCA	0.597000														119			14		0	0	0.001855	0	0
RASAL3	64926	broad.mit.edu	37	19	15562672	15562672	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:15562672C>T	uc002nbe.2	-	17	3056	c.2970G>A	c.(2968-2970)agG>agA	p.R990R	WIZ_uc002nbb.4_5'Flank|RASAL3_uc002nbd.3_3'UTR	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	990					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						ACCCCCGCGTCCTTGGAGAAA	0.612000														112			19		0	0	0.007413	0	0
PSG5	5673	broad.mit.edu	37	19	43689221	43689221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:43689221C>T	uc002ovu.3	-	1	274	c.143G>A	c.(142-144)gGg>gAg	p.G48E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G48E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	48	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AACATCCTTCCCCTCGGAAAC	0.463000														167			33		0	0	0.002096	0	0
PADI4	23569	broad.mit.edu	37	1	17657608	17657608	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:17657608G>A	uc001baj.2	+	1	265	c.237G>A	c.(235-237)acG>acA	p.T79T	PADI4_uc009vpc.2_Silent_p.T79T	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	79			T -> M (in dbSNP:rs35809521).		chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGACCCTGACGATGAAAGTGG	0.602000														43			4		0	0	0.000248	0	0
PREX2	80243	broad.mit.edu	37	8	69033271	69033271	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:69033271G>A	uc003xxv.1	+	29	3738	c.3711G>A	c.(3709-3711)agG>agA	p.R1237R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1237					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R1237R(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACATCAGGAAATTTGTTG	0.403000														23			3		0	0	0.004672	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384617	62384617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:62384617G>A	uc001ntw.3	-	2	688	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.H147Y|B3GAT3_uc010rlz.2_Missense_Mutation_p.H154Y	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	154					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCACGGGGATGAACCCAGCCA	0.687000														60			9		0	0	0.000673	0	0
CDCA7	83879	broad.mit.edu	37	2	174224214	174224214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:174224214G>A	uc002uic.1	+	2	510	c.379G>A	c.(379-381)Gga>Aga	p.G127R	CDCA7_uc002uid.1_Intron|CDCA7_uc010zej.1_Missense_Mutation_p.G83R|CDCA7_uc010zek.1_Intron	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	48					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GATACAAGATGGAATGGTGAG	0.373000														47			8		0	0	0.003080	0	0
COX5B	1329	broad.mit.edu	37	2	98264520	98264521	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:98264520_98264521CC>TT	uc002sya.3	+	3	368_369	c.339_340CC>TT	c.(337-342)tgcccc>tgTTcc	p.P114S		NM_001862	NP_001853	P10606	COX5B_HUMAN	Homo sapiens cytochrome c oxidase subunit Vb (COX5B), nuclear gene encoding mitochondrial protein, mRNA.	114					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3						CCCAGCGATGCCCCCGCTGTGG	0.510000														47			9		0	0	0.004672	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48898778	48898778	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:48898778C>T	uc002rwp.2	+	9	3514	c.3400C>T	c.(3400-3402)Ctg>Ttg	p.L1134L	STON1-GTF2A1L_uc021vhf.1_Silent_p.L1134L|STON1-GTF2A1L_uc010yol.2_Silent_p.L1087L|STON1-GTF2A1L_uc002rws.2_Silent_p.L430L|STON1-GTF2A1L_uc010yom.2_Silent_p.L396L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1087					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTGCCAGACCTGTTTGACAC	0.338000														67			14		0	0	0.004007	0	0
LILRB1	10859	broad.mit.edu	37	19	55148324	55148324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:55148324C>T	uc002qgj.3	+	15	2288	c.1948C>T	c.(1948-1950)Cac>Tac	p.H650Y	LILRB1_uc002qgl.3_Missense_Mutation_p.H651Y|LILRB1_uc002qgk.3_Missense_Mutation_p.H651Y|LILRB1_uc002qgm.3_Missense_Mutation_p.H652Y|LILRB1_uc010erq.3_Missense_Mutation_p.H634Y|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	650					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTGGCCATCCACTAGCCCAG	0.647000										HNSCC(37;0.09)				46			9		0	0	0.000978	0	0
ABCB5	340273	broad.mit.edu	37	7	20721180	20721180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:20721180G>A	uc010kuh.3	+	14	1997	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCB5_uc003suw.4_Missense_Mutation_p.R142Q	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	142	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTATTCGAAGTGCAGAT	0.403000														46			9		0	0	0.004482	0	0
NRK	203447	broad.mit.edu	37	X	105168906	105168906	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:105168906C>T	uc004emd.3	+	18	3498	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	NRK_uc010npc.1_Silent_p.V733V	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1065							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTAAGGGAGTCGTTCGAACCA	0.507000										HNSCC(51;0.14)				12			3		0	0	0.004672	0	0
SNX9	51429	broad.mit.edu	37	6	158349733	158349733	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:158349733C>T	uc003qqv.1	+	12	1461	c.1288_splice	c.e12+1	p.P430_splice		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	430	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCTGCACGGGCCGTAAGTCCA	0.592000														7			3		0	0	0.004672	0	0
SETMAR	6419	broad.mit.edu	37	3	4355407	4355407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:4355407C>T	uc011asp.2	+	1	1049	c.982C>T	c.(982-984)Cct>Tct	p.P328S	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.P315S|SETMAR_uc011asq.2_Missense_Mutation_p.P189S|SETMAR_uc003bpy.4_Missense_Mutation_p.P50S|SETMAR_uc011asr.2_Missense_Mutation_p.P72S|SETMAR_uc010hbx.3_Missense_Mutation_p.P123S	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	315	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TGGCTCAGCCCCTTCTGTGTT	0.512000								Chromatin Structure						25			4		0	0	0.000602	0	0
MICAL3	57553	broad.mit.edu	37	22	18347693	18347693	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:18347693G>A	uc002zng.4	-	18	2930	c.2577C>T	c.(2575-2577)gcC>gcT	p.A859A	MICAL3_uc011agl.2_Silent_p.A859A|MICAL3_uc002znh.2_Silent_p.A859A|MICAL3_uc002znj.1_Silent_p.A587A|MICAL3_uc002znk.1_Silent_p.A859A|MICAL3_uc002znl.1_Silent_p.A492A|MICAL3_uc002znm.3_Silent_p.A360A|MICAL3_uc010grf.3_Silent_p.A983A	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	859						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCTGGCCACGGCGTTGGCCC	0.587000														121			15		0	0	0.007413	0	0
LCTL	197021	broad.mit.edu	37	15	66856293	66856293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:66856293C>T	uc002aqc.3	-	2	458	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	LCTL_uc002aqd.4_5'UTR|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	109					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGGAGAATCGGTAGTGGTT	0.622000														92			10		0	0	0.001368	0	0
SMARCD1	6602	broad.mit.edu	37	12	50480090	50480090	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:50480090C>T	uc001rvx.4	+	1	494	c.324C>T	c.(322-324)atC>atT	p.I108I	SMARCD1_uc010smo.1_Silent_p.I108I|SMARCD1_uc001rvy.4_Silent_p.I108I|SMARCD1_uc009zlp.3_Silent_p.I108I	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.	108	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CTCAGCAGATCCAGCAGGTCC	0.632000														66			6		0	0	0.001984	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793308	65793308	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:65793308G>A	uc001ogt.3	-	0	681	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	181	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGGTCCATGGGGGAGGTAGG	0.592000														88			14		0	0	0.002450	0	0
HCRTR1	3061	broad.mit.edu	37	1	32084967	32084967	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:32084967C>T	uc009vtx.2	+	2	559	c.174C>T	c.(172-174)gtC>gtT	p.V58V	HCRTR1_uc001btc.4_Missense_Mutation_p.S32L|HCRTR1_uc001btd.2_Silent_p.V58V|HCRTR1_uc010ogl.2_Silent_p.V58V	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	58					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CTGTGTTCGTCGTGGCCCTGG	0.587000														138			14		0	0	0.001855	0	0
KIRREL	55243	broad.mit.edu	37	1	158059518	158059518	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:158059518C>T	uc001frn.4	+	9	1586	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	KIRREL_uc010pib.2_Silent_p.I294I|KIRREL_uc009wsq.3_Silent_p.I230I|KIRREL_uc001fro.4_Silent_p.I208I	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	394	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGCCCCCCATCATCTCCAGTG	0.597000														127			18		0	0	0.001523	0	0
SRGAP3	9901	broad.mit.edu	37	3	9066956	9066956	+	Missense_Mutation	SNP	G	A	A	rs146672079		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:9066956G>A	uc003brf.1	-	13	2343	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	SRGAP3_uc003brg.1_Missense_Mutation_p.S532F|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	556	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S556F(2)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTCTCAAAGGAATTTTTGAT	0.478000			T	RAF1	pilocytic astrocytoma									39			6		0	0	0.001984	0	0
TECTA	7007	broad.mit.edu	37	11	121016712	121016712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:121016712C>T	uc010rzo.2	+	10	3992	c.3992C>T	c.(3991-3993)tCt>tTt	p.S1331F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1331					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGTTTGACTCTTGCATCGAT	0.572000														155			18		0	0	0.001523	0	0
FCAR	2204	broad.mit.edu	37	19	55396884	55396884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:55396884G>A	uc002qhr.1	+	2	505	c.308G>A	c.(307-309)aGg>aAg	p.R103K	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.R103K|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.R76K|FCAR_uc010esi.1_Missense_Mutation_p.R76K|FCAR_uc002qhu.1_Missense_Mutation_p.R103K|FCAR_uc002qhv.1_Missense_Mutation_p.R103K|FCAR_uc002qhw.1_Missense_Mutation_p.R91K|FCAR_uc002qhx.1_Missense_Mutation_p.R91K|FCAR_uc002qhy.1_Missense_Mutation_p.R91K|FCAR_uc002qhz.1_Missense_Mutation_p.R91K|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	103	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGCCAATATAGGATAGGGCAC	0.488000														69			14		0	0	0.002450	0	0
RNASEL	6041	broad.mit.edu	37	1	182554562	182554562	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:182554562A>T	uc009wxz.2	-	1	1637	c.1380T>A	c.(1378-1380)ttT>ttA	p.F460L	RNASEL_uc001gpk.3_Missense_Mutation_p.F460L|RNASEL_uc009wya.1_Missense_Mutation_p.F460L	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	460	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CATTTCGGGCAAATTCATCTT	0.463000														38			7		0	0	0.001984	0	0
BPIFB6	128859	broad.mit.edu	37	20	31620862	31620862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:31620862G>A	uc010zuc.2	+	1	170	c.170G>A	c.(169-171)gGg>gAg	p.G57E	BPIFB6_uc010zud.2_5'UTR	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	57						extracellular region	lipid binding										AAACAGCCAGGGATGAAACCT	0.562000														84			14		0	0	0.003163	0	0
RBP3	5949	broad.mit.edu	37	10	48388910	48388910	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:48388910G>A	uc001jez.3	-	0	2082	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	656	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662000														27			4		0	0	0.000248	0	0
SEH1L	81929	broad.mit.edu	37	18	12984128	12984128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:12984128C>T	uc002krq.3	+	7	1147	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	SEH1L_uc002krr.3_Missense_Mutation_p.P337S	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	337					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						AACCTCAAATCCTTCCCTAGG	0.413000														77			20		0	0	0.001216	0	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:158323802C>T	uc001fse.3	+	0	317	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.F8F|CD1E_uc001fsh.3_Silent_p.F8F|CD1E_uc001fry.3_Silent_p.F8F|CD1E_uc001fsf.3_Silent_p.F8F|CD1E_uc001fsg.3_Silent_p.F8F|CD1E_uc009wsv.3_Silent_p.F8F|CD1E_uc001fsj.3_Silent_p.F8F|CD1E_uc001fsk.3_Silent_p.F8F|CD1E_uc001fsa.3_Silent_p.F8F|CD1E_uc001fsd.3_Silent_p.F8F|CD1E_uc001frz.3_Silent_p.F8F|CD1E_uc010pig.2_Silent_p.F8F|CD1E_uc001fsc.3_Silent_p.F8F|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	8					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522000														53			7		0	0	0.006214	0	0
NPHS1	4868	broad.mit.edu	37	19	36332637	36332637	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:36332637T>C	uc002oby.3	-	19	2951	c.2795A>G	c.(2794-2796)aAc>aGc	p.N932S	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	932	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGTTGAATGTTGGTTTGGTC	0.597000														73			20		0	0	0.003330	0	0
CADPS	8618	broad.mit.edu	37	3	62385086	62385086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:62385086C>T	uc003dll.2	-	29	4417	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	CADPS_uc003dlj.1_Missense_Mutation_p.D308N|CADPS_uc003dlk.1_Missense_Mutation_p.D801N|CADPS_uc003dlm.2_Missense_Mutation_p.D1314N|CADPS_uc003dln.2_Missense_Mutation_p.D1274N|CADPS_uc021wzv.1_Missense_Mutation_p.D1344N	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1353	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGGTCTAATCGTCTTCTTCG	0.488000														22			5		0	0	0.000602	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503330	90503330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:90503330G>A	uc004app.4	+	3	3963	c.3928G>A	c.(3928-3930)Gac>Aac	p.D1310N		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1310						integral to membrane											GCAGTTTATGGACTGCATGGC	0.577000														29			6		0	0	0.001984	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320203	79320203	+	Silent	SNP	C	T	T	rs150789659	by1000genomes	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:79320203C>T	uc010mpk.3	-	7	7111	c.6987G>A	c.(6985-6987)ccG>ccA	p.P2329P	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.P2151P	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2329					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGCGTTTCCGGATGGCCTT	0.478000														23			9		0	0	0.004482	0	0
ANKRD32	84250	broad.mit.edu	37	5	94022323	94022323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:94022323C>T	uc003kkr.4	+	15	2101	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F	ANKRD32_uc003kks.3_Missense_Mutation_p.S38F	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	674										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TCCTTTTCCTCCTCCTGGCTT	0.373000														141			9		0	0	0.000673	0	0
GPR128	84873	broad.mit.edu	37	3	100364864	100364864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:100364864C>T	uc003duc.3	+	8	1290	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	GPR128_uc011bhc.2_Missense_Mutation_p.S42L	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	341					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACAGCTAAATCGGATTTTAGT	0.333000														23			6		0	0	0.001168	0	0
PNMA5	114824	broad.mit.edu	37	X	152159672	152159672	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:152159672C>T	uc022chn.1	-	0	471	c.471G>A	c.(469-471)agG>agA	p.R157R	PNMA5_uc010ntx.3_Silent_p.R157R|PNMA5_uc010ntw.3_Silent_p.R157R|PNMA5_uc004fgy.4_Silent_p.R157R|PNMA5_uc022chm.1_Silent_p.R157R	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	157					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCAGTTTCCTGTACCACA	0.527000														248			30		0	0	0.007291	0	0
ACAN	176	broad.mit.edu	37	15	89401744	89401744	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:89401744G>A	uc010upo.1	+	11	6302	c.5928G>A	c.(5926-5928)ggG>ggA	p.G1976G	ACAN_uc010upp.1_Silent_p.G1976G|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1976					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACATGTCTGGGGAGCATTCTG	0.537000														44			11		0	0	0.000978	0	0
LAMA3	3909	broad.mit.edu	37	18	21343417	21343417	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:21343417T>C	uc002kuq.3	+	7	1198	c.1112T>C	c.(1111-1113)gTt>gCt	p.V371A	LAMA3_uc010dlv.2_Missense_Mutation_p.V371A|LAMA3_uc002kur.3_Missense_Mutation_p.V371A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	371	Domain V.|Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATCCAGATGTTGAGCGGCAG	0.443000														91			8		0	0	0.003080	0	0
C19orf57	79173	broad.mit.edu	37	19	14000264	14000264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:14000264C>T	uc002mxl.1	-	5	1464	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	C19orf57_uc002mxk.1_Missense_Mutation_p.D351N	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	469					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCCTCGAGGTCTCGTTCGAGG	0.602000														157			21		0	0	0.001523	0	0
AMPD1	270	broad.mit.edu	37	1	115218564	115218564	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:115218564G>A	uc001efe.2	-	10	1596	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	AMPD1_uc001eff.2_Silent_p.F512F	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	483					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	ACACTGGCATGAAAATATTCT	0.443000														101			42		0	0	0.006999	0	0
FNDC3A	22862	broad.mit.edu	37	13	49772281	49772281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:49772281C>T	uc001vcm.3	+	21	2959	c.2654C>T	c.(2653-2655)cCt>cTt	p.P885L	FNDC3A_uc001vcn.3_Missense_Mutation_p.P885L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.P829L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	885	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGGGAAAAGCCTTGTGATCAT	0.403000														45			4		0	0	0.000602	0	0
ENTHD1	150350	broad.mit.edu	37	22	40231964	40231964	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:40231964C>T	uc003ayg.3	-	4	844	c.593_splice	c.e4-1	p.R198_splice		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	198										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CACACATTTCCTGTCAACAAT	0.348000														43			4		0	0	0.000248	0	0
RAD1	5810	broad.mit.edu	37	5	34911702	34911702	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:34911702C>G	uc003jix.3	-	3	852	c.523G>C	c.(523-525)Gaa>Caa	p.E175Q	RAD1_uc003jiw.3_Missense_Mutation_p.E66Q|RAD1_uc003jiy.3_Missense_Mutation_p.E175Q	NM_002853	NP_002844	O60671	RAD1_HUMAN	Homo sapiens RAD1 homolog (S. pombe) (RAD1), transcript variant 1, mRNA.	175					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGTAGGACTTCACTCGTCATA	0.413000								Other conserved DNA damage response genes						75			11		0	0	0.000673	0	0
IQCA1	79781	broad.mit.edu	37	2	237374155	237374155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:237374155C>T	uc002vwb.2	-	5	974	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	IQCA1_uc002vvz.1_Missense_Mutation_p.E307K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E307K	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	307							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CACCTGCATTCGATGAACCAA	0.428000														16			5		0	0	0.001984	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140756033	140756033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:140756033C>T	uc003ljy.2	+	0	2383	c.2383C>T	c.(2383-2385)Cag>Tag	p.Q795*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.Q795*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	805					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)			TCTGATAACTCAGGATTTACT	0.478000														66			7		0	0	0.004482	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568299	7568299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:7568299G>A	uc002cys.2	+	4	1166	c.178G>A	c.(178-180)Gag>Aag	p.E60K	RBFOX1_uc010buf.1_Missense_Mutation_p.E60K|RBFOX1_uc002cyr.1_Missense_Mutation_p.E60K|RBFOX1_uc002cyt.2_Missense_Mutation_p.E60K|RBFOX1_uc010uxz.1_Missense_Mutation_p.E103K|RBFOX1_uc010uya.1_Missense_Mutation_p.E96K|RBFOX1_uc002cyv.1_Missense_Mutation_p.E60K|RBFOX1_uc010uyb.1_Missense_Mutation_p.E60K|RBFOX1_uc002cyw.2_Missense_Mutation_p.E80K|RBFOX1_uc002cyy.2_Missense_Mutation_p.E80K|RBFOX1_uc002cyx.2_Missense_Mutation_p.E80K|RBFOX1_uc010uyc.1_Missense_Mutation_p.E80K	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	60					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding	p.A59V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CACGGTTCCCGAGCACACATT	0.657000														183			19		0	0	0.007413	0	0
ACSBG1	23205	broad.mit.edu	37	15	78470956	78470956	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:78470956C>T	uc002bdh.3	-	11	1908	c.1702_splice	c.e11+1	p.E568_splice	ACSBG1_uc010umx.2_Splice_Site_p.E326_splice|ACSBG1_uc010umw.2_Splice_Site_p.E564_splice	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	568					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGGTGCTCACCTTTGAGGCGC	0.617000														30			6		0	0	0.001168	0	0
LINC00174	285908	broad.mit.edu	37	7	65842497	65842497	+	RNA	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:65842497G>A	uc003tux.3	-	4		c.2958C>T								Homo sapiens long intergenic non-protein coding RNA 174 (LINC00174), non-coding RNA.																		CGGCCCCCATGGGCCACTGTG	0.647000														20			6		0	0	0.001168	0	0
TACC2	10579	broad.mit.edu	37	10	123842181	123842181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:123842181G>A	uc001lfv.3	+	3	526	c.166G>A	c.(166-168)Gga>Aga	p.G56R	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G56R|TACC2_uc010qtv.2_Missense_Mutation_p.G56R	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	56						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTTGGGCTTGGAGGCTTCTG	0.562000														110			7		0	0	0.004482	0	0
LRRN2	10446	broad.mit.edu	37	1	204587262	204587262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:204587262G>A	uc021phy.1	-	0	1859	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.S620F|LRRN2_uc001hbf.1_Missense_Mutation_p.S620F|LRRN2_uc009xbf.1_Missense_Mutation_p.S620F|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	620					cell adhesion	integral to membrane	receptor activity	p.T619T(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCTGTGGCAAGAAGTGGCCTC	0.627000														39			12		0	0	0.001368	0	0
ADARB1	104	broad.mit.edu	37	21	46595747	46595747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:46595747G>A	uc002zgy.2	+	3	566	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.G44E|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.G44E|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.G44E|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.G93E	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	44					RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTCTCCAATGGGGGTGGTGGT	0.622000														152			23		0	0	0.002299	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505044	47505044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:47505044G>A	uc001cqt.3	+	7	1163	c.913G>A	c.(913-915)Gat>Aat	p.D305N	CYP4X1_uc001cqr.3_Missense_Mutation_p.D304N|CYP4X1_uc001cqs.3_Missense_Mutation_p.D240N	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	305						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTCAGATATTGATGTACACTC	0.408000														18			4		0	0	0.001168	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384498	21384498	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:21384498C>T	uc002zud.3	-	2	1193	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	SLC7A4_uc002zue.3_Silent_p.G375G	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	375					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGTGAGGAGCCCGAACGCCA	0.632000														67			9		0	0	0.004482	0	0
FZD10	11211	broad.mit.edu	37	12	130648594	130648594	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:130648594C>T	uc001uii.3	+	0	1591	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	369					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCATCCTGATCCTGGTCATGC	0.667000														77			11		0	0	0.000978	0	0
CFB	629	broad.mit.edu	37	6	31918995	31918995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:31918995G>A	uc003nyj.4	+	14	2208	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	CFB_uc011dor.2_Missense_Mutation_p.E1146K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	644	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GACTCGGAAGGAGGTCTACAT	0.498000														338			34		0	0	0.003271	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360953	47360953	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:47360953C>T	uc021qis.1	-	21	2125	c.2070G>A	c.(2068-2070)ggG>ggA	p.G690G	MYBPC3_uc021qir.1_Silent_p.G342G|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	689	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGGCCTTATTCCCCTGGGAAC	0.617000														149			24		0	0	0.003954	0	0
ANKRA2	57763	broad.mit.edu	37	5	72858543	72858543	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:72858543A>C	uc003kcu.2	-	1	823	c.164T>G	c.(163-165)aTa>aGa	p.I55R		NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	Homo sapiens ankyrin repeat, family A (RFXANK-like), 2 (ANKRA2), mRNA.	55						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GTTAGGCAATATGAATTTCAT	0.388000														133			15		0	0	0.001216	0	0
GABRE	2564	broad.mit.edu	37	X	151123984	151123984	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:151123984G>A	uc004ffi.3	-	7	1047	c.993C>T	c.(991-993)ttC>ttT	p.F331F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	331					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGACACGCGGGAAATTCTTAC	0.507000														61			11		0	0	0.002450	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055810	68055810	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:68055810G>A	uc003dnd.3	+	1	257	c.41G>A	c.(40-42)tGg>tAg	p.W14*	FAM19A1_uc003dne.3_Nonsense_Mutation_p.W14*|FAM19A1_uc003dng.3_Nonsense_Mutation_p.W14*|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	14						endoplasmic reticulum|extracellular region		p.L13F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CTGTATTTGTGGATAAGTGCT	0.522000														150			17		0	0	0.006122	0	0
TREML5P	221438	broad.mit.edu	37	6	41217317	41217317	+	RNA	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:41217317G>A	uc003oqe.1	+	0		c.203G>A								Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA.																		GACTCAGGCCGATACTGGTGC	0.627000														38			5		0	0	0.001984	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697519	153697519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:153697519C>T	uc004flm.3	+	25	4728	c.4555C>T	c.(4555-4557)Ccg>Tcg	p.P1519S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1519					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGGGCATTCCGTACTCCCA	0.602000														116			22		0	0	0.001882	0	0
NUMA1	4926	broad.mit.edu	37	11	71725701	71725701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:71725701C>T	uc001orl.1	-	14	3020	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	NUMA1_uc009ysw.1_Missense_Mutation_p.E513K|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E950K|NUMA1_uc001orn.2_Missense_Mutation_p.E513K|NUMA1_uc009ysx.1_Missense_Mutation_p.E950K|NUMA1_uc001oro.1_Missense_Mutation_p.E950K	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	950					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCAGCCACTCGGGCTGTCTG	0.637000			T	RARA	APL									86			14		0	0	0.001855	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938440	30938440	+	RNA	SNP	A	G	G	rs115448147	by1000genomes	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:30938440A>G	uc010azv.1	+	10		c.1250A>G			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTCCTTTGCTATTTGTGCATG	0.493000														16			3		0	0	0.000602	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480581	140480581	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:140480581C>T	uc003lio.3	+	0	348	c.348C>T	c.(346-348)ttC>ttT	p.F116F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	116	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTGCAATTCGTTACAAACG	0.418000														114			15		0	0	0.003163	0	0
WDR38	401551	broad.mit.edu	37	9	127619777	127619777	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:127619777G>A	uc011lzo.2	+	9	873	c.817_splice	c.e9-1	p.Q273_splice	WDR38_uc011lzn.2_Splice_Site_p.Q262_splice|WDR38_uc011lzp.2_Splice_Site_p.Q224_splice|WDR38_uc004box.3_Intron	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	Homo sapiens WD repeat domain 38 (WDR38), mRNA.	272										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCTACTCTTAGCAGGGAGTCC	0.567000														73			19		0	0	0.001216	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048937	42048937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:42048937G>A	uc001cgz.4	-	3	2745	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	HIVEP3_uc001cha.4_Missense_Mutation_p.S511F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	511	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCACTGTGGGATGACAGGGG	0.612000														133			11		0	0	0.000673	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138432301	138432301	+	Missense_Mutation	SNP	T	G	G	rs140896827		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:138432301T>G	uc003vuf.3	-	11	1427	c.1189A>C	c.(1189-1191)Acc>Ccc	p.T397P	ATP6V0A4_uc003vug.3_Missense_Mutation_p.T397P|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.T397P	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	397					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGATGATGGTGTAGGGGGCT	0.577000														36			6		0	0	0.001168	0	0
ZNF320	162967	broad.mit.edu	37	19	53384496	53384496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:53384496G>A	uc002qag.3	-	3	1074	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.H241Y|ZNF320_uc002qai.3_Missense_Mutation_p.H295Y	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTGCAGTATGAACTGCCTTA	0.428000														38			4		0	0	0.000602	0	0
CCDC67	159989	broad.mit.edu	37	11	93170761	93170761	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:93170761T>A	uc001pdq.3	+	13	1791	c.1691T>A	c.(1690-1692)cTg>cAg	p.L564Q		NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	564										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CATTTCCTTCTGGAAGAAGAG	0.373000														37			7		0	0	0.001984	0	0
SHH	6469	broad.mit.edu	37	7	155604658	155604658	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:155604658C>T	uc003wmk.1	-	0	310	c.159G>A	c.(157-159)gaG>gaA	p.E53E	SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	53			E -> K (in HPE3).		CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	p.E53*(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTAGGGTCTTCTCGGCCACAT	0.557000														338			106		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100674976	100674976	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:100674976G>A	uc003uxp.1	+	2	332	c.279G>A	c.(277-279)tcG>tcA	p.S93S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	93	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S93L(1)		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)					AGATGACCTCGATTGAGTCCA	0.488000														48			17		0	0	0.004007	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147926	82147926	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:82147926C>T	uc001szo.2	-	2	236	c.75G>A	c.(73-75)tcG>tcA	p.S25S	PPFIA2_uc021rbi.1_Silent_p.S25S|PPFIA2_uc021rbj.1_Silent_p.S25S|PPFIA2_uc021rbk.1_Silent_p.S25S|PPFIA2_uc021rbl.1_Silent_p.S25S	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	284										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTCTGAGTCCGAGCCACTGC	0.498000														15			4		0	0	0.000248	0	0
ADAM18	8749	broad.mit.edu	37	8	39587442	39587442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:39587442G>A	uc003xni.3	+	19	2258	c.2203G>A	c.(2203-2205)Gat>Aat	p.D735N	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.D711N	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	735					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATCAGAAAGCGATGACGTGGG	0.328000														100			25		0	0	0.001786	0	0
MYH2	4620	broad.mit.edu	37	17	10440552	10440552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:10440552C>T	uc010coi.3	-	15	2023	c.1895G>A	c.(1894-1896)gGa>gAa	p.G632E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G632E|MYH2_uc010coj.3_Missense_Mutation_p.G632E	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	632	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E631V(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCATTACCTCCTTCAGCAGT	0.438000														49			10		0	0	0.000673	0	0
CD1C	911	broad.mit.edu	37	1	158262056	158262056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:158262056G>A	uc001fru.3	+	2	803	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	171					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCATCAGTATGAAGGCGTCAC	0.463000														108			16		0	0	0.004990	0	0
VAV2	7410	broad.mit.edu	37	9	136645046	136645046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:136645046C>T	uc004ces.3	-	20	1802	c.1756G>A	c.(1756-1758)Gga>Aga	p.G586R	VAV2_uc004cer.3_Missense_Mutation_p.G576R|VAV2_uc004cet.1_Missense_Mutation_p.G125R	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	586	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCACCTGGTCCCGCTCCGGAG	0.622000														53			12		0	0	0.002450	0	0
NID1	4811	broad.mit.edu	37	1	236154240	236154241	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:236154240_236154241GG>AA	uc001hxo.3	-	13	2975_2976	c.2873_2874CC>TT	c.(2872-2874)ccc>cTT	p.P958L	NID1_uc009xgd.3_Missense_Mutation_p.P825L|NID1_uc009xgc.3_Missense_Mutation_p.P44L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	958					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTCCCTCCAGGGGCAGGCGCTC	0.574000														87			11		0	0	0.004672	0	0
GREB1	9687	broad.mit.edu	37	2	11706713	11706713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:11706713G>A	uc002rbk.1	+	3	685	c.385G>A	c.(385-387)Gac>Aac	p.D129N	GREB1_uc002rbl.3_Missense_Mutation_p.D129N|GREB1_uc002rbm.3_Missense_Mutation_p.D19N|GREB1_uc002rbn.1_Missense_Mutation_p.D129N	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	129						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGCCTGCCGGACCATCTCCT	0.587000														105			8		0	0	0.004482	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41310302	41310302	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:41310302C>T	uc003azh.3	+	6	1130	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	XPNPEP3_uc003azi.3_Silent_p.I264I|XPNPEP3_uc011aoy.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	343					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGAGTGACATCACACGTACGT	0.458000														56			8		0	0	0.003080	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168182	1168182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:1168182C>T	uc001adk.3	+	0	554	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SDF4_uc001adh.4_5'Flank|SDF4_uc001adi.4_5'Flank|SDF4_uc009vjw.3_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	Homo sapiens UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6), mRNA.	175					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		gcccgcgagcccgcgcgccgc	0.751000														16			4		0	0	0.001168	0	0
CCDC110	256309	broad.mit.edu	37	4	186380140	186380140	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:186380140A>G	uc003ixu.4	-	5	1677	c.1601T>C	c.(1600-1602)tTa>tCa	p.L534S	CCDC110_uc003ixv.4_Missense_Mutation_p.L497S|CCDC110_uc011ckt.1_Missense_Mutation_p.L534S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	534						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGCTTCTCTAAAGAAAGTTG	0.274000														23			6		0	0	0.001984	0	0
GPR63	81491	broad.mit.edu	37	6	97246999	97246999	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:97246999C>T	uc010kcl.3	-	2	1087	c.609G>A	c.(607-609)tgG>tgA	p.W203*	GPR63_uc003pou.3_Nonsense_Mutation_p.W203*|GPR63_uc021zcy.1_Nonsense_Mutation_p.W203*	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	203						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.W203L(2)|p.W203C(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGAAGTTGCCCAAGAAACTG	0.463000														36			7		0	0	0.001984	0	0
SFXN5	94097	broad.mit.edu	37	2	73298765	73298765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:73298765G>A	uc002siq.3	-	0	201	c.70C>T	c.(70-72)Cct>Tct	p.P24S	SFXN5_uc010fet.3_Missense_Mutation_p.P24S	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	24					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						AGTTGGAAAGGAGGTGCATCG	0.657000														29			4		0	0	0.000602	0	0
MYOM2	9172	broad.mit.edu	37	8	2092691	2092691	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:2092691T>C	uc003wpx.4	+	36	4322	c.4184T>C	c.(4183-4185)gTg>gCg	p.V1395A	MYOM2_uc011kwi.2_Missense_Mutation_p.V820A	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1395	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGGTGAAGGTGGAGCAGGCC	0.532000														109			16		0	0	0.006122	0	0
PYGO1	26108	broad.mit.edu	37	15	55838771	55838771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:55838771G>A	uc002adf.1	-	2	710	c.710C>T	c.(709-711)cCa>cTa	p.P237L	PYGO1_uc010bfl.1_Missense_Mutation_p.P237L	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	237	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTCTTGTTTTGGGGGTGGTGC	0.373000														21			5		0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825856	146825856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:146825856G>A	uc003weu.2	+	6	1527	c.1011G>A	c.(1009-1011)atG>atA	p.M337I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	337	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.M337I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGGCTGCATGGAAAGCATCA	0.413000										HNSCC(39;0.1)				36			4		0	0	0.000602	0	0
PRDM15	63977	broad.mit.edu	37	21	43277340	43277340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:43277340G>A	uc002yzq.1	-	10	1439	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	PRDM15_uc002yzo.3_Missense_Mutation_p.P114L|PRDM15_uc002yzp.3_Missense_Mutation_p.P114L|PRDM15_uc002yzr.1_Missense_Mutation_p.P114L	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	443	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGACTCAAAGGGACCGAACTG	0.547000														149			8		0	0	0.006214	0	0
NEURL3	93082	broad.mit.edu	37	2	97166202	97166202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:97166202C>T	uc010yuo.2	-	1	559	c.488G>A	c.(487-489)gGg>gAg	p.G163E	NEURL3_uc010fhx.3_Non-coding_Transcript|NEURL3_uc002swc.3_Non-coding_Transcript|NEURL3_uc010yup.1_Missense_Mutation_p.G163E					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		CTTAGTGGTCCCATACACGTC	0.706000														20			4		0	0	0.000248	0	0
SACS	26278	broad.mit.edu	37	13	23906876	23906876	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:23906876G>A	uc001uon.2	-	9	11728	c.11139C>T	c.(11137-11139)ccC>ccT	p.P3713P	SACS_uc001uoo.2_Silent_p.P3566P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3713					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATGCTTAAGGGTGTAGCTT	0.393000														37			4		0	0	0.000248	0	0
TUBB8	347688	broad.mit.edu	37	10	93805	93805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:93805G>A	uc001ifi.2	-	3	527	c.527C>T	c.(526-528)tCg>tTg	p.S176L		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	176					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.V175M(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CACGGTGTCCGACACCTTGGG	0.537000														244			14		0	0	0.007413	0	0
NSRP1	84081	broad.mit.edu	37	17	28512396	28512396	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:28512396A>G	uc002heu.3	+	6	1409	c.1381A>G	c.(1381-1383)Agg>Ggg	p.R461G	NSRP1_uc002hev.3_Missense_Mutation_p.R407G|NSRP1_uc010wbl.2_Missense_Mutation_p.R407G|NSRP1_uc010wbm.2_Missense_Mutation_p.R407G|NSRP1_uc002hex.3_Missense_Mutation_p.R407G	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	461					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CCCAAATTCTAGGGCAAAGGA	0.353000														29			3		0	0	0.004672	0	0
ICAM2	3384	broad.mit.edu	37	17	62083993	62083993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:62083993G>A	uc002jdu.4	-	0	291	c.59C>T	c.(58-60)cCa>cTa	p.P20L	ICAM2_uc002jdw.4_Missense_Mutation_p.P20L|ICAM2_uc010ded.3_Missense_Mutation_p.P20L|ICAM2_uc002jdx.4_Missense_Mutation_p.P20L|ICAM2_uc002jdv.4_Missense_Mutation_p.P20L|ICAM2_uc010wpx.1_Missense_Mutation_p.P20L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	20					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						TGGCTTACCTGGACAGCAGAT	0.597000														34			8		0	0	0.006214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725727	140725727	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:140725727C>T	uc003ljm.2	+	0	2127	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.I709I	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	710					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)			CCTTCGTCATCGTGCTGCTGG	0.682000														146			33		0	0	0.005524	0	0
OR5D14	219436	broad.mit.edu	37	11	55563508	55563508	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:55563508G>A	uc010rim.2	+	0	477	c.477G>A	c.(475-477)ttG>ttA	p.L159L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P158H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTGGCCCCTTGGTACTCCTTT	0.498000														73			10		0	0	0.006214	0	0
PDE8B	8622	broad.mit.edu	37	5	76627230	76627230	+	Silent	SNP	G	A	A	rs150153853		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:76627230G>A	uc003kfa.3	+	4	699	c.654G>A	c.(652-654)tcG>tcA	p.S218S	PDE8B_uc003kfd.3_Silent_p.S218S|PDE8B_uc003kfe.3_Silent_p.S218S|PDE8B_uc003kfb.3_Silent_p.S198S|PDE8B_uc003kfc.3_Silent_p.S218S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	218					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GCTGCAGATCGGATGACCATG	0.498000														116			24		0	0	0.007291	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167438348	167438348	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:167438348C>T	uc003qvj.3	+	8	970	c.885C>T	c.(883-885)tcC>tcT	p.S295S	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Silent_p.S248S|FGFR1OP_uc003qvk.3_Silent_p.S275S	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	295					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GACTCAGCTCCCTGGCGGGAG	0.463000			T	FGFR1	"""MPD, NHL"""									67			8		0	0	0.004482	0	0
EGFL6	25975	broad.mit.edu	37	X	13645196	13645196	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:13645196T>G	uc004cvj.3	+	10	1642	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R	EGFL6_uc004cvi.3_Missense_Mutation_p.L451R	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	451	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CGATTGAAACTTCTCCTACCT	0.453000														92			12		0	0	0.000978	0	0
BICC1	80114	broad.mit.edu	37	10	60566913	60566913	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:60566913T>C	uc001jki.1	+	16	2371	c.2371T>C	c.(2371-2373)Tat>Cat	p.Y791H	BICC1_uc001jkj.1_Missense_Mutation_p.Y432H	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	791					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GACAACCACTTATGAGGTTTG	0.458000														19			3		0	0	0.000248	0	0
TP73	7161	broad.mit.edu	37	1	3624233	3624233	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:3624233A>G	uc001akp.3	+	3	417	c.307A>G	c.(307-309)Agc>Ggc	p.S103G	TP73_uc021ofb.1_Missense_Mutation_p.S103G|TP73_uc021ofc.1_Missense_Mutation_p.S103G|TP73_uc021ofd.1_Missense_Mutation_p.S103G|TP73_uc021ofe.1_Missense_Mutation_p.S103G|TP73_uc021off.1_Missense_Mutation_p.S103G|TP73_uc010nzj.2_Missense_Mutation_p.S54G|TP73_uc021ofg.1_Missense_Mutation_p.S54G|TP73_uc021ofh.1_Missense_Mutation_p.S54G|TP73_uc021ofi.1_Missense_Mutation_p.S54G|TP73_uc001akr.3_Missense_Mutation_p.S54G|TP73_uc009vlk.2_Missense_Mutation_p.S54G|TP73_uc001aks.3_Missense_Mutation_p.S54G|TP73_uc009vll.3_Missense_Mutation_p.S32G|TP73_uc010nzk.2_Missense_Mutation_p.S32G	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	103					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGCACAACCCAGCTCCACCTT	0.672000														103			12		0	0	0.001855	0	0
JPH2	57158	broad.mit.edu	37	20	42788275	42788275	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:42788275G>A	uc002xli.1	-	1	2025	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	384	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGCAATCTCGGCCTTCTGGC	0.682000														23			5		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9088962	9088962	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:9088962G>A	uc002mkp.3	-	0	3057	c.2853C>T	c.(2851-2853)acC>acT	p.T951T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	951	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						TGTCTCTATTGGTCTGTGACA	0.483000														53			7		0	0	0.001984	0	0
RGS14	10636	broad.mit.edu	37	5	176794828	176794828	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:176794828T>G	uc003mgh.3	+	7	921	c.739_splice	c.e7+2	p.E247_splice	RGS14_uc003mgf.3_Splice_Site_p.E247_splice|RGS14_uc003mgg.1_Splice_Site_p.E94_splice|RGS14_uc003mgi.3_5'UTR	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	247					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGCCGGGGTGAGGGCAGGA	0.652000														40			9		0	0	0.004482	0	0
ECE1	1889	broad.mit.edu	37	1	21605716	21605716	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:21605716C>A	uc001bek.2	-	2	323	c.248G>T	c.(247-249)tGc>tTc	p.C83F	ECE1_uc001bem.2_Missense_Mutation_p.C67F|ECE1_uc001bej.2_Missense_Mutation_p.C71F|ECE1_uc001bei.2_Missense_Mutation_p.C80F|ECE1_uc010odl.1_Missense_Mutation_p.C83F|ECE1_uc009vqa.1_Missense_Mutation_p.C83F|AX747766_uc001ben.1_5'Flank	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	83					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGCTGCCAAGCAGGCCACCAG	0.652000														94			13		9.31168e-06	1.25032e-05	0.001855	1	0
FTSJD1	55783	broad.mit.edu	37	16	71318845	71318845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:71318845G>A	uc021tkr.1	-	0	979	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	FTSJD1_uc010cga.3_Missense_Mutation_p.H327Y|FTSJD1_uc002ezy.4_Missense_Mutation_p.H327Y|FTSJD1_uc002ezz.4_Missense_Mutation_p.H327Y	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	327						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACAGAGGATGGATGGCCTCT	0.423000														81			12		0	0	0.001368	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86542321	86542321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:86542321G>A	uc011kha.2	-	13	2116	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F	KIAA1324L_uc003uie.3_Missense_Mutation_p.S477F|KIAA1324L_uc011kgz.2_Missense_Mutation_p.S530F|KIAA1324L_uc003uif.2_Missense_Mutation_p.S396F	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	644						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTGATGTATGGACAGGTAGGT	0.502000														12			8		0	0	0.003080	0	0
OR4D1	26689	broad.mit.edu	37	17	56232643	56232643	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:56232643C>T	uc010wno.2	+	0	129	c.129C>T	c.(127-129)ctC>ctT	p.L43L	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGGGAAACCTCCTTATCATGG	0.458000														218			21		0	0	0.001523	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474840	20474841	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:20474840_20474841CC>TT	uc009vpp.1	+	4	680_681	c.582_583CC>TT	c.(580-585)ccccct>ccTTct	p.P195S		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	152					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ATGAACCGCCCCCTGAGGAGGT	0.624000														96			14		0	0	0.004672	0	0
RAD54L2	23132	broad.mit.edu	37	3	51694052	51694053	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:51694052_51694053CC>AT	uc011bdt.2	+	20	3452_3453	c.3327_3328CC>AT	c.(3325-3330)atccgt>atATgt	p.R1110C	RAD54L2_uc003dbh.3_Missense_Mutation_p.R699C|RAD54L2_uc011bdu.2_Missense_Mutation_p.R804C|RAD54L2_uc003dbj.3_Missense_Mutation_p.R436C	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1110						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGACGTACATCCGTACCAGTGA	0.510000														23			4		0	0	0.004672	0	0
POLA1	5422	broad.mit.edu	37	X	24859900	24859900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:24859900C>T	uc004dbl.3	+	32	3865	c.3850C>T	c.(3850-3852)Cct>Tct	p.P1284S		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	1284					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGTCCATGCCCTACATGTGG	0.388000														18			4		0	0	0.000248	0	0
FAM83A	84985	broad.mit.edu	37	8	124206263	124206263	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:124206263G>A	uc003ypv.3	+	4	2663	c.649_splice	c.e4-1	p.N217_splice	FAM83A_uc003ypw.3_Splice_Site_p.N217_splice|FAM83A_uc003ypx.3_Splice_Site_p.N217_splice|FAM83A_uc003ypy.3_Splice_Site_p.N161_splice|FAM83A_uc003ypz.3_Splice_Site_p.N217_splice	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	217										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCTCCAACAGAACATTTCCA	0.463000														32			4		0	0	0.000602	0	0
TRPV5	56302	broad.mit.edu	37	7	142609822	142609822	+	Silent	SNP	G	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:142609822G>C	uc003wby.1	-	12	1878	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	538					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAATAACAGTGAGAAAAAGCT	0.493000														92			25		0	0	0.004656	0	0
OR2A25	392138	broad.mit.edu	37	7	143771756	143771756	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:143771756G>A	uc011ktx.2	+	0	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W148R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGACTTCCTGGATTTTAGGAG	0.458000														109			25		0	0	0.002780	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38643563	38643563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:38643563G>A	uc002ohk.3	+	12	4126	c.3617G>A	c.(3616-3618)gGc>gAc	p.G1206D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1206					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTCTTCCGGCGGCCTGACC	0.667000														89			12		0	0	0.001368	0	0
FBRS	64319	broad.mit.edu	37	16	30677847	30677847	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:30677847C>T	uc002dzd.4	+	5	491	c.228C>T	c.(226-228)ttC>ttT	p.F76F	FBRS_uc002dzc.4_Intron	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	76										ovary(1)	1			Colorectal(24;0.103)			CCGACCATTTCCGGCCACCTT	0.587000														134			14		0	0	0.007413	0	0
DNAH11	8701	broad.mit.edu	37	7	21934593	21934593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:21934593C>T	uc003svc.3	+	79	13077	c.13046C>T	c.(13045-13047)cCt>cTt	p.P4349L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4349					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGCTTATCCTTCTACTTAT	0.522000									Kartagener syndrome					45			7		0	0	0.001984	0	0
HRNR	388697	broad.mit.edu	37	1	152188366	152188366	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:152188366G>A	uc001ezt.1	-	2	5815	c.5739C>T	c.(5737-5739)caC>caT	p.H1913H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1913					keratinization		calcium ion binding|protein binding	p.H1913R(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTAGATCCGTGTTGTTCAC	0.557000														911			31		0	0	0.002445	0	0
MAGED1	9500	broad.mit.edu	37	X	51643356	51643356	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:51643356G>A	uc004dpn.3	+	11	2281	c.2091G>A	c.(2089-2091)gaG>gaA	p.E697E	MAGED1_uc004dpm.3_Silent_p.E641E|MAGED1_uc004dpo.3_Silent_p.E641E	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	641					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTACCATGAGACTAGCAAGA	0.498000										Multiple Myeloma(10;0.10)				27			7		0	0	0.001984	0	0
STIM1	6786	broad.mit.edu	37	11	4112672	4112672	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:4112672C>T	uc021qco.1	+	11	2588	c.2020C>T	c.(2020-2022)Ctg>Ttg	p.L674L	STIM1_uc001lyv.2_Silent_p.L568L|STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Silent_p.L395L	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	661	Lys-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CCCAGGGTCTCTGGTGGAGAA	0.622000														48			7		0	0	0.001984	0	0
KCNS3	3790	broad.mit.edu	37	2	18112296	18112296	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:18112296C>T	uc021veh.1	+	0	21	c.21C>T	c.(19-21)ttC>ttT	p.F7F	KCNS3_uc002rcv.3_Silent_p.F7F|KCNS3_uc002rcw.3_Silent_p.F7F	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	7					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.F7F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTGAGTTTTTCCATCGCCCTG	0.527000														31			7		0	0	0.001984	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183960159	183960159	+	RNA	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:183960159C>T	uc003ivi.4	+	0		c.1342C>T								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		GTCACCTCACCAGAGATCATG	0.393000														45			4		0	0	0.001168	0	0
ZEB1	6935	broad.mit.edu	37	10	31799699	31799699	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:31799699G>C	uc001ivs.4	+	4	643	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Missense_Mutation_p.E120Q|ZEB1_uc010qeg.1_Missense_Mutation_p.E53Q|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Missense_Mutation_p.E195Q|ZEB1_uc010qeh.2_Missense_Mutation_p.E127Q|ZEB1_uc001ivv.4_Missense_Mutation_p.E174Q|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Missense_Mutation_p.E177Q|ZEB1_uc009xlp.3_Missense_Mutation_p.E178Q	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	194					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATATCGTCATGAAAAGAATGA	0.383000														14			4		0	0	0.001168	0	0
SLA2	84174	broad.mit.edu	37	20	35242766	35242766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:35242766C>T	uc002xfv.3	-	6	1030	c.607G>A	c.(607-609)Gat>Aat	p.D203N	SLA2_uc002xfu.3_Missense_Mutation_p.G186E	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	203	SLA C-terminal.				B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGGGTATATCCTTGCCAGGG	0.567000														129			19		0	0	0.006122	0	0
PHKA2	5256	broad.mit.edu	37	X	18924613	18924613	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:18924613C>T	uc004cyv.4	-	25	3236	c.2806_splice	c.e25+1	p.G936_splice	PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	936					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGCATCTCACCTGAGCAGTTC	0.627000														95			15		0	0	0.004007	0	0
FBXO24	26261	broad.mit.edu	37	7	100198504	100198504	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:100198504C>T	uc011kjz.1	+	9	1907	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P	FBXO24_uc003uvm.1_Silent_p.P575P|FBXO24_uc003uvn.1_Silent_p.P213P|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.P563P|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	575						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTAGGGCCCCCAGCCCCTG	0.632000														76			23		0	0	0.002780	0	0
COL11A2	1302	broad.mit.edu	37	6	33139255	33139255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:33139255C>T	uc003ocx.1	-	42	3475	c.3247G>A	c.(3247-3249)Gat>Aat	p.D1083N	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.D997N|COL11A2_uc003ocz.1_Missense_Mutation_p.D976N	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1083	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						TTGTCTCCATCCTCTCCAGCC	0.627000														52			9		0	0	0.006214	0	0
USH1C	10083	broad.mit.edu	37	11	17542474	17542474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:17542474G>A	uc001mnf.3	-	13	1262	c.1153C>T	c.(1153-1155)Ctc>Ttc	p.L385F	USH1C_uc001mne.3_Missense_Mutation_p.L385F|USH1C_uc009yhb.3_Missense_Mutation_p.L366F|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.L349F	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	385					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTAGGCAAGAGTAGCTGTTCC	0.488000														457			64		0	0	0.003610	0	0
PTPN14	5784	broad.mit.edu	37	1	214571288	214571288	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:214571288C>T	uc001hkk.2	-	7	1379	c.726G>A	c.(724-726)agG>agA	p.R242R	PTPN14_uc021piy.1_Silent_p.R6R|PTPN14_uc010pty.2_Silent_p.R143R	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	242	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAATTCTGTTCCTCACGAAAA	0.358000														20			6		0	0	0.001984	0	0
SELV	348303	broad.mit.edu	37	19	40009732	40009732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:40009732G>A	uc021uum.1	+	4	1085	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_182704		P59797	SELV_HUMAN	Homo sapiens selenoprotein V (SELV), mRNA.	329					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTTTGTGAACGAGTCCAGGCT	0.592000														74			8		0	0	0.003080	0	0
FRG1B	284802	broad.mit.edu	37	20	29625985	29625985	+	Splice_Site	SNP	G	A	A	rs79368216	by1000genomes	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:29625985G>A	uc010ztl.1	+	2	170	c.138_splice	c.e2+1	p.N46_splice	FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTTTCAAAATGTAAGTGCTGT	0.323000														38			8		0	0	0.000673	0	0
ABP1	26	broad.mit.edu	37	7	150556110	150556110	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:150556110G>A	uc003why.1	+	3	6048	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	ABP1_uc003whz.1_Silent_p.Q610Q|ABP1_uc003wia.1_Silent_p.Q610Q	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	610					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CAGGCTGGCAGGAGGAGCAGG	0.647000														17			4		0	0	0.000248	0	0
TEKT3	64518	broad.mit.edu	37	17	15231371	15231371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:15231371G>A	uc002gon.3	-	3	788	c.601C>T	c.(601-603)Cat>Tat	p.H201Y		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	201					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTTTCTCGATGAAATAGACAT	0.403000														37			8		0	0	0.006214	0	0
CBLB	868	broad.mit.edu	37	3	105412372	105412372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:105412372G>A	uc003dwc.3	-	12	2342	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	CBLB_uc011bhi.2_Missense_Mutation_p.P696S|CBLB_uc003dwd.2_Missense_Mutation_p.P674S|CBLB_uc003dwe.2_Missense_Mutation_p.P674S	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	674	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACTGGAGGAGGAGGAGAAAGC	0.408000			Mis S		AML									16			3		0	0	0.000602	0	0
ATP2A3	489	broad.mit.edu	37	17	3839759	3839759	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:3839759A>C	uc002fwy.2	-	15	2499	c.2326T>G	c.(2326-2328)Ttc>Gtc	p.F776V	ATP2A3_uc002fwz.2_Missense_Mutation_p.F776V|ATP2A3_uc002fxa.2_Missense_Mutation_p.F776V|ATP2A3_uc002fxb.2_Missense_Mutation_p.F776V|ATP2A3_uc002fxc.2_Missense_Mutation_p.F776V|ATP2A3_uc002fxd.2_Missense_Mutation_p.F776V|ATP2A3_uc002fwx.2_Missense_Mutation_p.F776V	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	776					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCGTGAGGAAGATGCTGGAA	0.637000														82			7		0	0	0.003080	0	0
CDH15	1013	broad.mit.edu	37	16	89256854	89256854	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:89256854G>A	uc002fmt.3	+	7	1259	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	394	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCACTCTGGTGGCCACCTTCT	0.662000														26			4		0	0	0.000248	0	0
HPSE	10855	broad.mit.edu	37	4	84232034	84232034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:84232034C>T	uc003hoj.4	-	4	782	c.683G>A	c.(682-684)aGt>aAt	p.S228N	HPSE_uc003hoi.3_Missense_Mutation_p.S170N|HPSE_uc011ccq.2_Intron|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Intron|HPSE_uc003hok.4_Missense_Mutation_p.S228N|HPSE_uc011cct.2_Missense_Mutation_p.S228N	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	228					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CTTAAGGAAACTGTTAGGTTC	0.308000														46			6		0	0	0.001168	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131161	55131161	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:55131161G>C	uc003han.4	+	4	1035	c.704G>C	c.(703-705)tGt>tCt	p.C235S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.C129S|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	235	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.C235Y(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGGTCACCTGTGCTGTTTTT	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				42			7		0	0	0.001984	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054080	160054080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:160054080G>A	uc001fuy.1	+	1	502	c.260G>A	c.(259-261)gGc>gAc	p.G87D		NM_004983	NP_004974	Q92806	IRK9_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA.	87					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	p.R86L(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TACGGCCGCGGCGACCTGGAG	0.657000														49			5		0	0	0.001168	0	0
AB231721	0	broad.mit.edu	37	11	58660159	58660159	+	RNA	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:58660159G>A	uc001nne.1	+	1		c.99G>A								Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit13-03-08-F.																		TTAGGTGAGGGGATAAGAGCA	0.413000														12			5		0	0	0.001168	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000														5			3		0	0	0.004672	0	0
ARPC1A	10552	broad.mit.edu	37	7	98941935	98941935	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:98941935G>A	uc003upx.2	+	3	350	c.189G>A	c.(187-189)aaG>aaA	p.K63K	ARPC1A_uc003upy.2_Silent_p.K49K|ARPC1A_uc011kit.2_Non-coding_Transcript	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1A, 41kDa (ARPC1A), transcript variant 1, mRNA.	63					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCTCCCAAGAGCGACCGCA	0.532000														35			4		0	0	0.000248	0	0
CAPN13	92291	broad.mit.edu	37	2	30954239	30954239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:30954239C>T	uc021vfn.1	-	19	1986	c.1954G>A	c.(1954-1956)Gga>Aga	p.G652R	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.G648R	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	652	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGTCCTTTTCCATCCTTAGAG	0.567000														25			5		0	0	0.000602	0	0
AFF4	27125	broad.mit.edu	37	5	132232412	132232412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:132232412G>A	uc003kyd.3	-	10	2318	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	AFF4_uc011cxk.2_Missense_Mutation_p.S315F|AFF4_uc003kye.1_Missense_Mutation_p.S637F	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	637					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.S636F(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATTTCTGGGAAGATTTACT	0.428000														23			6		0	0	0.001984	0	0
GGCX	2677	broad.mit.edu	37	2	85778939	85778939	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:85778939G>A	uc002sps.3	-	10	1711	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	GGCX_uc010yss.2_Silent_p.F351F|GGCX_uc010yst.2_Silent_p.F478F	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	535					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCATACCAGGGAAATCTGCAA	0.512000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			16		0	0	0.006122	0	0
ZNF576	79177	broad.mit.edu	37	19	44103204	44103204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:44103204G>A	uc002owz.2	+	2	480	c.307G>A	c.(307-309)Gtt>Att	p.V103I	IRGQ_uc010eiv.2_5'Flank|ZNF576_uc002owy.2_Missense_Mutation_p.V103I|SRRM5_uc002oxb.2_Intron	NM_001145347	NP_077303	Q9H609	ZN576_HUMAN	Homo sapiens zinc finger protein 576 (ZNF576), transcript variant 2, mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CACCCTGCCGGTTGCAACCAC	0.632000														116			10		0	0	0.000673	0	0
ROBO2	6092	broad.mit.edu	37	3	77684138	77684138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:77684138G>A	uc011bgk.2	+	24	4533	c.3890G>A	c.(3889-3891)gGa>gAa	p.G1297E	ROBO2_uc021xat.1_Missense_Mutation_p.G1309E|ROBO2_uc003dpy.4_Missense_Mutation_p.G1293E|ROBO2_uc003dpz.3_Missense_Mutation_p.G1358E|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1293					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAACACAAGGGAGGGCGGATG	0.507000														39			4		0	0	0.000248	0	0
SH3BP2	6452	broad.mit.edu	37	4	2833690	2833690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:2833690C>T	uc003gfi.4	+	9	1511	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	SH3BP2_uc011bvp.2_Missense_Mutation_p.S492F|SH3BP2_uc003gfj.4_Missense_Mutation_p.S521F|SH3BP2_uc003gfk.4_Missense_Mutation_p.S464F|SH3BP2_uc003gfl.4_Missense_Mutation_p.S397F|SH3BP2_uc003gfm.4_Missense_Mutation_p.S439F	NM_001122681	NP_003014	P78314	3BP2_HUMAN	Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA.	464	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	p.S464S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACCACGGAGTCCTGCGAAGTG	0.612000									Cherubism					52			13		0	0	0.004007	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21370151	21370151	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:21370151G>A	uc001req.4	+	11	1700	c.1596G>A	c.(1594-1596)agG>agA	p.R532R		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTGTACAAGGAAATTTTACT	0.378000														49			8		0	0	0.003080	0	0
ABCC1	4363	broad.mit.edu	37	16	16215945	16215945	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:16215945C>T	uc010bvi.3	+	23	3679	c.3504C>T	c.(3502-3504)ttC>ttT	p.F1168F	ABCC1_uc010bvj.3_Silent_p.F1109F|ABCC1_uc010bvk.3_Silent_p.F1112F|ABCC1_uc010bvl.3_Silent_p.F1168F|ABCC1_uc010bvm.3_Silent_p.F1053F|ABCC1_uc002del.4_Silent_p.F1062F|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Silent_p.F134F	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1168	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTCGAGCCTTCGAGGAGCAGG	0.612000														47			6		0	0	0.001984	0	0
SLC43A2	124935	broad.mit.edu	37	17	1494708	1494708	+	Silent	SNP	G	A	A	rs12936338		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:1494708G>A	uc002fsu.3	-	7	1093	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SLC43A2_uc002fsv.3_Silent_p.F262F|SLC43A2_uc002fsw.3_Silent_p.F262F|SLC43A2_uc002fsx.3_Silent_p.F262F|SLC43A2_uc010vqo.1_Silent_p.F125F	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	262					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CCTGCTTGTAGAACTGCTTCC	0.647000														97			17		0	0	0.001523	0	0
PRDX2	7001	broad.mit.edu	37	19	12911973	12911973	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:12911973C>T	uc002mvd.3	-	2	253	c.103_splice	c.e2+1	p.G35_splice	PRDX2_uc002mve.1_Splice_Site_p.G35_splice	NM_005809	NP_005800	P32119	PRDX2_HUMAN	Homo sapiens peroxiredoxin 2 (PRDX2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	35	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGGCGCTCACCTTTGTAGTCC	0.642000														41			6		0	0	0.001168	0	0
SSTR5	6755	broad.mit.edu	37	16	1129746	1129746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:1129746C>T	uc021taf.1	+	1	949	c.878C>T	c.(877-879)tCc>tTc	p.S293F	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.S293F	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	293					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTCATCCTCTCCTACGCCAAC	0.622000														42			6		0	0	0.001168	0	0
CRYAA	1409	broad.mit.edu	37	21	44589331	44589331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:44589331C>T	uc002zdd.1	+	0	191	c.122C>T	c.(121-123)tCg>tTg	p.S41L		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	41					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCCTTCCTGTCGTCCACCATC	0.632000														185			25		0	0	0.006320	0	0
DNAJC7	7266	broad.mit.edu	37	17	40169387	40169387	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:40169387C>T	uc002hyo.3	-	0	329	c.48G>A	c.(46-48)ccG>ccA	p.P16P	DNAJC7_uc010wgb.2_5'Flank|DNAJC7_uc002hyp.3_5'UTR|DNAJC7_uc010wgc.2_5'UTR|DNAJC7_uc010cxw.3_5'Flank|NKIRAS2_uc002hyq.3_5'Flank|NKIRAS2_uc010wgd.2_5'Flank|NKIRAS2_uc002hyr.3_5'Flank|NKIRAS2_uc002hys.3_5'Flank|NKIRAS2_uc010wge.2_5'Flank|NKIRAS2_uc002hyt.3_5'Flank	NM_003315	NP_001138238	Q99615	DNJC7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.	16					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CGAGCAGCTCCGGCTCGGTCG	0.652000														139			16		0	0	0.003163	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801388	133801388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:133801388G>A	uc001qgx.4	-	9	1559	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V	IGSF9B_uc001qgy.1_Missense_Mutation_p.A285V	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	443	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCTGCGGCAGCACAGGGGAT	0.662000														72			8		0	0	0.003080	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520117	62520117	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:62520117C>T	uc001nuz.3	-	1	1292	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GCTGGGAGGGCTGTGCCCCAT	0.562000														71			9		0	0	0.004482	0	0
SPSB4	92369	broad.mit.edu	37	3	140785598	140785598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:140785598G>A	uc003ett.3	+	1	897	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	SPSB4_uc010hum.3_Missense_Mutation_p.G218S	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	218	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGCCGTGTGGGGCCACTGTGA	0.622000														64			5		0	0	0.001168	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218683	8218683	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:8218683G>A	uc003gkv.4	+	7	730	c.629_splice	c.e7-1	p.G210_splice	SH3TC1_uc003gkw.4_Splice_Site_p.G134_splice|SH3TC1_uc003gkx.4_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	210							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCTTTTGAAGGGCCCTTCTT	0.652000														78			17		0	0	0.001216	0	0
MYH4	4622	broad.mit.edu	37	17	10351223	10351223	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:10351223A>G	uc002gmn.3	-	33	4988	c.4877T>C	c.(4876-4878)cTt>cCt	p.L1626P	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1626					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATTTCATTAAGATCTCCCTC	0.468000														93			11		0	0	0.000978	0	0
MDC1	9656	broad.mit.edu	37	6	30672858	30672858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:30672858G>A	uc003nrg.4	-	9	4542	c.4102C>T	c.(4102-4104)Cct>Tct	p.P1368S	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P975S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1368	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGGGCTATAGGGACAGTTGAT	0.547000								Other conserved DNA damage response genes						271			23		0	0	0.002299	0	0
CDC6	990	broad.mit.edu	37	17	38457848	38457849	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:38457848_38457849CC>TT	uc002huj.1	+	10	1791_1792	c.1581_1582CC>TT	c.(1579-1584)acccgt>acTTgt	p.R528C		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	528					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	p.R528S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ACAAGGAAACCCGTTTGACAAA	0.416000														103			8		0	0	0.004672	0	0
INTS6	26512	broad.mit.edu	37	13	51950221	51950221	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:51950221C>T	uc001vfk.3	-	12	2306	c.1692G>A	c.(1690-1692)ttG>ttA	p.L564L	INTS6_uc001vfi.3_Silent_p.L248L|INTS6_uc001vfj.3_Silent_p.L551L|INTS6_uc001vfl.3_Silent_p.L386L	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	564					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GAGTGCTCTTCAAAAGATTAG	0.318000														25			5		0	0	0.001984	0	0
NUCB1	4924	broad.mit.edu	37	19	49409139	49409139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:49409139C>T	uc002plb.4	+	3	707	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	NUCB1_uc002pla.3_Missense_Mutation_p.P125S	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	125						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CGAGCAGGATCCCAGTGAGCA	0.667000														31			6		0	0	0.001168	0	0
HCFC1	3054	broad.mit.edu	37	X	153219122	153219122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:153219122G>A	uc004fjp.3	-	17	4961	c.4433C>T	c.(4432-4434)tCc>tTc	p.S1478F		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1478					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTCAGTGTGGAGGACACGGT	0.672000														79			12		0	0	0.001368	0	0
WDR72	256764	broad.mit.edu	37	15	53998215	53998215	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:53998215G>T	uc002acj.2	-	9	1053	c.1011C>A	c.(1009-1011)taC>taA	p.Y337*	WDR72_uc010bfi.1_Nonsense_Mutation_p.Y337*	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	337										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAAGTACCTTGTAAAAAGGCT	0.398000														18			4		0.000602214	0.00080215	0.000602	1	0
SLC6A20	54716	broad.mit.edu	37	3	45823681	45823681	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:45823681G>A	uc011bai.2	-	1	280	c.156C>T	c.(154-156)atC>atT	p.I52I	SLC6A20_uc011baj.2_Silent_p.I52I	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	52					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TTCCCTCCACGATAAGCATGA	0.592000														67			12		0	0	0.002450	0	0
NELL2	4753	broad.mit.edu	37	12	44915913	44915913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:44915913G>A	uc010skz.1	-	18	2320	c.2195C>T	c.(2194-2196)cCc>cTc	p.P732L	NELL2_uc001rof.3_Missense_Mutation_p.P681L|NELL2_uc001rog.2_Missense_Mutation_p.P682L|NELL2_uc001roh.2_Missense_Mutation_p.P682L|NELL2_uc009zkd.2_Missense_Mutation_p.P634L|NELL2_uc010sla.1_Missense_Mutation_p.P705L	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	682	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATCAACTGTGGGATTCTCACA	0.428000														34			5		0	0	0.000602	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142719	18142720	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:18142719_18142720CC>TT	uc021wbb.1	+	4	1375_1376	c.938_939CC>TT	c.(937-939)tcc>tTT	p.S313F	CSRP2BP_uc002wqk.3_Missense_Mutation_p.S185F|CSRP2BP_uc010zru.2_Missense_Mutation_p.S184F	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	313					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATTGACTTTTCCTCCTTGAGCT	0.530000														66			6		0	0	0.004672	0	0
WWC3	55841	broad.mit.edu	37	X	10085396	10085396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:10085396C>T	uc004csx.4	+	10	1495	c.1297C>T	c.(1297-1299)Ccc>Tcc	p.P433S	WWC3_uc010nds.3_Missense_Mutation_p.P97S|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	433	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCCCCCAGGCCCCTCGGGCTT	0.662000														84			20		0	0	0.001216	0	0
SLC5A6	8884	broad.mit.edu	37	2	27428297	27428297	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:27428297T>C	uc010eyv.1	-	7	977	c.655A>G	c.(655-657)Att>Gtt	p.I219V	SLC5A6_uc002rjd.3_Missense_Mutation_p.I219V	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	219					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GACCCCACAATGATAACTGCC	0.592000														131			24		0	0	0.003954	0	0
MAOB	4129	broad.mit.edu	37	X	43656393	43656393	+	Silent	SNP	G	A	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:43656393G>A	uc004dfz.4	-	5	773	c.597C>T	c.(595-597)atC>atT	p.I199I	MAOB_uc011mkx.2_Silent_p.I183I|MAOB_uc011mky.2_Silent_p.I183I	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	199					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TTGTTGTCGAGATGATTCTTG	0.463000														20			4		0	0	0.000248	0	0
MAPK4	5596	broad.mit.edu	37	18	48190559	48190559	+	Silent	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:48190559C>T	uc002lev.3	+	1	1231	c.231C>T	c.(229-231)atC>atT	p.I77I	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.I77I	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	77	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ACGACAACATCGTCAAAGTGT	0.582000														62			12		0	0	0.001368	0	0
CDH9	1007	broad.mit.edu	37	5	26881634	26881634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:26881634C>T	uc003jgs.1	-	11	2150	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	CDH9_uc011cnv.1_Missense_Mutation_p.D254N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCGCCTTCATCGTTGTAGGTC	0.438000														45			7		0	0	0.001984	0	0
BLK	640	broad.mit.edu	37	8	11420487	11420488	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:11420487_11420488GG>AA	uc003wty.3	+	12	1762	c.1181_splice	c.e12-1	p.G394_splice	BLK_uc003wua.3_Splice_Site_p.G230_splice	NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	394	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TTTTCCCACAGGGGCCAAGTTC	0.609000														78			8		0	0	0.004672	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:149216400_149216402delCAG	uc003lrc.3	+	7	2473_2475	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.S799del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.S760del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.S735del|PPARGC1B_uc003lre.1_In_Frame_Del_p.S778del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.S778del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	799	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													---	169	---	---	9	---					
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	-	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:133543701_133543702delGT	uc004bzt.1	+	3	630	c.570_splice	c.e3+1	p.E190_splice		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	190	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594													---	89	---	---	7	---					
SEC24C	9632	broad.mit.edu	37	10	75506612	75506612	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:75506612delC	uc001juw.3	+	2	202	c.22delC	c.(22-24)ccafs	p.P8fs	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_5'UTR|SEC24C_uc001jux.3_Frame_Shift_Del_p.P8fs|SEC24C_uc010qko.2_5'UTR|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	8					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCAGTCAGTTCCACCTGTGCC	0.498													---	87	---	---	16	---					
NUP98	4928	broad.mit.edu	37	11	3704526	3704527	+	In_Frame_Ins	INS	-	TGC	TGC			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:3704526_3704527insTGC	uc001lyh.3	-	29	5242_5243	c.4821_4822insGCA	c.(4819-4824)insGCA	p.1607_1608insA	NUP98_uc001lyi.3_In_Frame_Ins_p.1533_1534insA|NUP98_uc001lyg.3_In_Frame_Ins_p.572_573insA	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1624					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GATTCCATGTGTGCTCGCACAG	0.515			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								---	67	---	---	9	---					
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:108518687_108518689delCTG	uc001vql.3	-	0	772_774	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	86	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719													---	82	---	---	10	---					
SOX3	6658	broad.mit.edu	37	X	139586119	139586119	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:139586119delG	uc004fbd.1	-	0	1107	c.1107delC	c.(1105-1107)cccfs	p.P369fs		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	369					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCGAGCCCATGGGGCCCAGGC	0.751													---	34	---	---	8	---					
