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
TTC37	9652	broad.mit.edu	37	5	94863846	94863846	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:94863846G>A	uc003klb.3	-	12	1302	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	TTC37_uc010jbf.2_Silent_p.I287I	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	335							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GATTATCTACGATCTTCAGAG	0.338000														24			26		0	0	0.108266	0	0
DNAH7	56171	broad.mit.edu	37	2	196722390	196722390	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:196722390C>A	uc002utj.4	-	43	8226	c.8125G>T	c.(8125-8127)Gaa>Taa	p.E2709*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2709	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATATAGCTTCCATAACAAGC	0.383000														17			19		1.96292e-10	2.00021e-10	0.055883	1	0
NOC3L	64318	broad.mit.edu	37	10	96099536	96099536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:96099536G>A	uc001kjq.1	-	16	2010	c.1922C>T	c.(1921-1923)tCa>tTa	p.S641L		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	641						nuclear speck|nucleolus	binding	p.S641*(2)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GCCAATACTTGAATTTGGAAG	0.368000														7			13		0	0	0.093190	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919211	154919211	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:154919211G>A	uc001ffr.3	-	9	998	c.939C>T	c.(937-939)ctC>ctT	p.L313L	PBXIP1_uc001ffs.3_Silent_p.L284L|PBXIP1_uc010pep.2_Silent_p.L158L	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	313					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCCCCCGGAGCTGGGCAT	0.627000														49			15		0	0	0.020292	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696912	128696912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:128696912C>T	uc003elj.4	-	4	980	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KIAA1257_uc003elg.1_Missense_Mutation_p.E262K|KIAA1257_uc003eli.4_Missense_Mutation_p.E150K	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	262										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGTGTTTTTCTGTTTTTTCT	0.463000														59			25		0	0	0.099896	0	0
LARP4	113251	broad.mit.edu	37	12	50848199	50848199	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:50848199C>T	uc001rwp.2	+	10	1323	c.1121_splice	c.e10+1	p.R374_splice	LARP4_uc001rwq.2_Splice_Site_p.R303_splice|LARP4_uc001rwt.2_Splice_Site_p.R303_splice|LARP4_uc001rws.2_Splice_Site_p.R373_splice|LARP4_uc001rwr.2_Splice_Site_p.R374_splice|LARP4_uc021qxv.1_Splice_Site_p.R304_splice|LARP4_uc009zlr.1_Splice_Site_p.R193_splice|LARP4_uc001rwm.3_Splice_Site_p.R374_splice|LARP4_uc001rwn.3_Splice_Site_p.R304_splice	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	374							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCAAAAAAATCGGTAAGATAA	0.348000														24			10		0	0	0.069234	0	0
OR51A4	401666	broad.mit.edu	37	11	4967631	4967631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4967631C>T	uc010qys.2	-	0	700	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233N(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAAGCTGCTCCTTTTTGGAT	0.473000														100			7		0	0	0.080935	0	0
PTPRD	5789	broad.mit.edu	37	9	8486278	8486278	+	Missense_Mutation	SNP	C	T	T	rs143787300		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:8486278C>T	uc003zkk.3	-	27	3282	c.2539G>A	c.(2539-2541)Gtg>Atg	p.V847M	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	847	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGTGTCCACCGGAGGGTGC	0.478000										TSP Lung(15;0.13)				21			53		0	0	0.048971	0	0
OR13C3	138803	broad.mit.edu	37	9	107298775	107298775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:107298775G>A	uc004bcb.1	-	0	320	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGAGGGAACAGAGGAGGATGT	0.423000														28			36		0	0	0.054565	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075178	226075178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:226075178G>A	uc001hpo.3	-	2	738	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	PYCR2_uc010pvj.2_Missense_Mutation_p.P328L	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	220					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GAGGCAAAGCGGACCAGCTTG	0.701000														19			15		0	0	0.043863	0	0
ARID4B	51742	broad.mit.edu	37	1	235338551	235338551	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:235338551G>A	uc021pks.1	-	21	3989	c.3612C>T	c.(3610-3612)ctC>ctT	p.L1204L	ARID4B_uc001hwq.3_Silent_p.L1204L|ARID4B_uc001hwr.3_Silent_p.L1118L|RBM34_uc001hwp.3_Non-coding_Transcript	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGGGTTCCTTGAGATCAGGAT	0.398000														98			32		0	0	0.059317	0	0
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:196729521G>A	uc002utj.4	-	40	6959	c.6858C>T	c.(6856-6858)atC>atT	p.I2286I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2286					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378000														79			70		0	0	0.048971	0	0
FCRL5	83416	broad.mit.edu	37	1	157516930	157516931	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:157516930_157516931CC>TT	uc009wsm.3	-	2	267_268	c.109_110GG>AA	c.(109-111)gga>AAa	p.G37K	FCRL5_uc001fqu.3_Missense_Mutation_p.G37K|FCRL5_uc010phv.1_Missense_Mutation_p.G37K|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.G37K|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CACTCTCTCTCCTTGGAAGACT	0.495000														105			32		0	0	0.004672	0	0
ZNF167	55888	broad.mit.edu	37	3	44612349	44612349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:44612349G>A	uc003cnj.3	+	5	2163	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Missense_Mutation_p.E583K|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	583					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CAAATGTAGTGAATGTGGGAA	0.428000														68			26		0	0	0.041601	0	0
CFTR	1080	broad.mit.edu	37	7	117267580	117267580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:117267580G>A	uc003vjd.3	+	21	3605	c.3473G>A	c.(3472-3474)cGa>cAa	p.R1158Q	CFTR_uc011knq.2_Missense_Mutation_p.R564Q	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1158					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.R1158*(1)|p.M1157L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTCAGATGCGATCTGTGAGC	0.343000									Cystic Fibrosis					33			20		0	0	0.049695	0	0
CTNND2	1501	broad.mit.edu	37	5	11236868	11236868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:11236868C>T	uc003jfa.1	-	9	1841	c.1696G>A	c.(1696-1698)Gtc>Atc	p.V566I	CTNND2_uc010itt.2_Missense_Mutation_p.V475I|CTNND2_uc011cmy.1_Missense_Mutation_p.V229I|CTNND2_uc011cmz.1_Missense_Mutation_p.V133I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.V133I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	566					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTAGACTGGACCGAGGGAAAC	0.483000														109			18		0	0	0.038395	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1983818	1983818	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:1983818C>T	uc021qsx.1	-	17	2061	c.1830G>A	c.(1828-1830)agG>agA	p.R610R	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	610						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TACCTGTTTCCCTATTGATCA	0.473000														34			5		0	0	0.021553	0	0
C15orf44	81556	broad.mit.edu	37	15	65883976	65883976	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:65883976G>A	uc010uix.2	-	8	1576	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	C15orf44_uc002apd.3_Silent_p.L360L|C15orf44_uc010uja.2_Silent_p.L342L|C15orf44_uc010ujb.2_Silent_p.L303L|C15orf44_uc002ape.4_Silent_p.L360L|C15orf44_uc010uiy.2_Silent_p.L281L|C15orf44_uc010uiz.2_Silent_p.L324L			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	360										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTAGCCATGGGAGAGGTTCTG	0.443000														35			22		0	0	0.062417	0	0
FAM26F	441168	broad.mit.edu	37	6	116784550	116784550	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:116784550G>A	uc003pwv.3	+	2	725	c.630G>A	c.(628-630)tgG>tgA	p.W210*		NM_001010919	NP_001010919	Q5R3K3	FA26F_HUMAN	Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA.	210						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TGAAATTCTGGAAAATCTATT	0.393000														32			45		0	0	0.039052	0	0
COL3A1	1281	broad.mit.edu	37	2	189868847	189868847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:189868847C>T	uc002uqj.1	+	38	2918	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	934	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.S934S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAGAAGGGATCGCCTGGTGCC	0.488000														39			13		0	0	0.043863	0	0
DNAH8	1769	broad.mit.edu	37	6	38890939	38890939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:38890939G>A	uc021yzh.1	+	71	10877	c.10768G>A	c.(10768-10770)Gaa>Aaa	p.E3590K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3373K|LOC100131047_uc003oof.2_Non-coding_Transcript	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.E3373K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAAAGTAAAGAATTCAAAGC	0.438000														30			17		0	0	0.043863	0	0
SPON1	10418	broad.mit.edu	37	11	14287200	14287200	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:14287200G>A	uc001mle.3	+	16	2656	c.2388G>A	c.(2386-2388)aaG>aaA	p.K796K		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	797	TSP type-1 6.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		aagacaagaaggagatcagag	0.463000														30			12		0	0	0.080935	0	0
GLP1R	2740	broad.mit.edu	37	6	39024187	39024187	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:39024187C>T	uc003ooj.4	+	1	153	c.93C>T	c.(91-93)tcC>tcT	p.S31S	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	31					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCACTGTGTCCCTCTGGGAGA	0.617000														44			21		0	0	0.076483	0	0
DPYD	1806	broad.mit.edu	37	1	97547948	97547948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:97547948C>T	uc001drv.3	-	21	2982	c.2845G>A	c.(2845-2847)Gat>Aat	p.D949N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	949	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTTCTTCATCAATCATAGCC	0.393000														86			104		0	0	0.048971	0	0
LRCH4	4034	broad.mit.edu	37	7	100179448	100179448	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:100179448G>A	uc003uvj.3	-	3	603	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	184					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGTCCCGCAGGGAAGAGAGG	0.587000														46			28		0	0	0.030593	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957403	50957403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:50957403G>A	uc002psf.2	+	16	1927	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	626	Ig-like C2-type 5.				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)		CCCCGTCGGCGAGGACGTGGC	0.627000														15			13		0	0	0.105934	0	0
PIK3R3	8503	broad.mit.edu	37	1	46509440	46509440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:46509440G>A	uc010olw.2	-	9	1446	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	PIK3R3_uc001cpb.4_Missense_Mutation_p.H431Y|PIK3R3_uc009vyb.3_Missense_Mutation_p.H372Y|PIK3R3_uc009vyc.3_Missense_Mutation_p.H448Y|PIK3R3_uc001cpc.4_Missense_Mutation_p.H431Y|PIK3R3_uc010olv.2_Missense_Mutation_p.H221Y	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	431					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGCTGGTAATGGAGCACTAGC	0.537000														64			26		0	0	0.091800	0	0
RBM41	55285	broad.mit.edu	37	X	106359888	106359888	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:106359888G>A	uc004emz.3	-	1	171	c.117C>T	c.(115-117)tcC>tcT	p.S39S	RBM41_uc004emy.2_Silent_p.S39S	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	39							RNA binding|nucleotide binding	p.S39F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACTCCTCAATGGAGACAGAAG	0.473000														13			42		0	0	0.092188	0	0
PARVG	64098	broad.mit.edu	37	22	44579272	44579272	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:44579272G>A	uc011aqe.2	+	2	487	c.63G>A	c.(61-63)gaG>gaA	p.E21E	PARVG_uc010gzo.3_Silent_p.E88E|PARVG_uc021wra.1_Silent_p.E21E|PARVG_uc003bep.3_Silent_p.E21E|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc021wrb.1_Silent_p.E21E|PARVG_uc011aqf.2_Silent_p.E21E|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	21					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCCCAGCGGAGGAGGAGCTCT	0.647000														8			19		0	0	0.062417	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:82125774G>A	uc003hmh.2	-	0	441	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_uc011cch.1_Missense_Mutation_p.S143F	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000														350			142		0	0	0.048971	0	0
GPR98	84059	broad.mit.edu	37	5	89924493	89924493	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:89924493G>A	uc003kju.3	+	7	1449	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	451	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATCAGACCGAGCTCTGGAG	0.478000														57			34		0	0	0.069456	0	0
OR9A4	130075	broad.mit.edu	37	7	141619558	141619558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:141619558G>A	uc003vwu.1	+	0	883	c.883G>A	c.(883-885)Gat>Aat	p.D295N		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCGGAATGATAAAGTCAT	0.458000														63			36		0	0	0.104719	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649950	232649950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:232649950G>A	uc001hvg.3	-	0	1294	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	379					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCTAAAGGGGACTCACAGTT	0.522000														95			28		0	0	0.108266	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47393560	47393560	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:47393560C>T	uc003bib.3	+	9	1322	c.1156C>T	c.(1156-1158)Caa>Taa	p.Q386*	TBC1D22A_uc010haf.3_Nonsense_Mutation_p.Q356*|TBC1D22A_uc003bie.3_Nonsense_Mutation_p.Q308*|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Nonsense_Mutation_p.Q339*	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	386	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ACCTGGGATTCAAATGAAAGT	0.458000														21			40		0	0	0.048971	0	0
VWF	7450	broad.mit.edu	37	12	6230460	6230461	+	Nonsense_Mutation	DNP	GG	AA	AA	rs61753984		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:6230460_6230461GG>AA	uc001qnn.1	-	2	349_350	c.99_100CC>TT	c.(97-102)gcccga>gcTTga	p.R34*	VWF_uc010set.1_Nonsense_Mutation_p.R34*|VWF_uc001qno.1_Nonsense_Mutation_p.R71*	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	34	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.R34*(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCTGCATCGGGCCGTGGATG	0.584000														29			8		0	0	0.004672	0	0
SCN5A	6331	broad.mit.edu	37	3	38629054	38629054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:38629054C>T	uc021wvo.1	-	13	2325	c.2273G>A	c.(2272-2274)gGg>gAg	p.G758E	SCN5A_uc021wvk.1_Missense_Mutation_p.G758E|SCN5A_uc021wvl.1_Missense_Mutation_p.G758E|SCN5A_uc021wvm.1_Missense_Mutation_p.G758E|SCN5A_uc021wvn.1_Missense_Mutation_p.G758E|SCN5A_uc021wvp.1_Missense_Mutation_p.G758E|SCN5A_uc021wvq.1_Missense_Mutation_p.G758E|SCN5A_uc021wvr.1_Missense_Mutation_p.G758E|SCN5A_uc021wvs.1_Missense_Mutation_p.G758E|SCN5A_uc021wvt.1_Missense_Mutation_p.G758E|SCN5A_uc021wvu.1_Missense_Mutation_p.G758E|SCN5A_uc021wvv.1_Missense_Mutation_p.G758E|SCN5A_uc021wvj.1_Missense_Mutation_p.G624E|SCN5A_uc021wvi.1_Missense_Mutation_p.G624E|SCN5A_uc021wvw.1_Missense_Mutation_p.G369E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	758					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTGAAAATCCCTGTGAAGAC	0.542000														35			14		0	0	0.033300	0	0
OR2G6	391211	broad.mit.edu	37	1	248685610	248685610	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:248685610C>T	uc001ien.1	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGCTTTATCACTCAAGCTG	0.478000														87			30		0	0	0.041601	0	0
RXFP2	122042	broad.mit.edu	37	13	32355863	32355863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:32355863G>A	uc001utt.3	+	9	912	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RXFP2_uc010aba.3_Missense_Mutation_p.D281N	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	281						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTGTCGTGCGATTCGCTCAC	0.323000														33			20		0	0	0.076483	0	0
OR2J3	442186	broad.mit.edu	37	6	29080495	29080495	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:29080495C>T	uc011dll.2	+	0	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGGCAAGTTCATTGCCCTCT	0.443000														55			51		0	0	0.048971	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919339	54919339	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:54919339C>T	uc003dhf.3	+	21	1992	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.S554S|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.S382S|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	648						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCGATGTGTCCTTGGCAGATG	0.483000														66			28		0	0	0.041601	0	0
MUC16	94025	broad.mit.edu	37	19	9045944	9045944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:9045944G>A	uc002mkp.3	-	4	35891	c.35687C>T	c.(35686-35688)tCc>tTc	p.S11896F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11898	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						GACAGCAGGGGAAACAGTCAG	0.488000														68			60		0	0	0.048971	0	0
AK098438	0	broad.mit.edu	37	1	21752830	21752830	+	RNA	SNP	C	T	T	rs139145324	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:21752830C>T	uc001bep.1	-	2		c.146G>A								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		TGAAAGGAGTCGAATACCATC	0.473000														36			9		0	0	0.105934	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601104	48601104	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:48601104C>T	uc010wmr.2	+	11	1885	c.1723C>T	c.(1723-1725)Ctg>Ttg	p.L575L	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	538					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)			CGCGGTCTCCCTGACCCAGGA	0.527000														16			26		0	0	0.041601	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920151	155920151	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:155920151G>A	uc001fmu.2	-	24	3213	c.2958C>T	c.(2956-2958)gaC>gaT	p.D986D	ARHGEF2_uc001fmq.2_Silent_p.D180D|ARHGEF2_uc001fmr.2_Silent_p.D914D|ARHGEF2_uc001fms.2_Silent_p.D941D|ARHGEF2_uc001fmt.2_Silent_p.D942D	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	942					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGTGTCAGGGTCACTGCTGT	0.607000														53			61		0	0	0.048971	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38348926	38348926	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:38348926C>T	uc010cwu.1	+	11	1597	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	RAPGEFL1_uc010wfd.1_Silent_p.F305F	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	575					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGATTCCCTTCGTGCCTCTGA	0.532000														46			98		0	0	0.048971	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457168	42457168	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:42457168G>A	uc002igt.1	-	17	1799	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F	ITGA2B_uc002igu.1_Silent_p.F70F	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	589					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)	GCTTGTCCCGGAAGTCTGCCT	0.607000														30			50		0	0	0.048971	0	0
LSR	51599	broad.mit.edu	37	19	35749940	35749940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:35749940G>A	uc002nyl.3	+	2	914	c.691G>A	c.(691-693)Gag>Aag	p.E231K	LSR_uc010xsr.2_Intron|LSR_uc002nym.3_Missense_Mutation_p.E231K|LSR_uc002nyn.3_Missense_Mutation_p.E231K|LSR_uc002nyo.3_Missense_Mutation_p.E231K|LSR_uc002nyp.3_Missense_Mutation_p.E194K	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	231	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGGGAACAATGAGGCCTACGC	0.607000														38			48		0	0	0.048971	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579922	11579922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:11579922C>T	uc001ash.4	+	8	2323	c.2185C>T	c.(2185-2187)Cgc>Tgc	p.R729C	PTCHD2_uc001asi.1_Missense_Mutation_p.R729C	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	729					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTCAAGAGCCGCTGGGTGAT	0.667000														68			48		0	0	0.048971	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589324	140589324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140589324C>T	uc003liz.3	+	0	1034	c.845C>T	c.(844-846)tCc>tTc	p.S282F	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	282	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S282F(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATACCTTTTCCCATGCCTCA	0.413000														72			69		0	0	0.048971	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566318	138566318	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:138566318T>C	uc011kql.2	-	10	4094	c.4045A>G	c.(4045-4047)Agt>Ggt	p.S1349G	KIAA1549_uc011kqi.2_Missense_Mutation_p.S133G|KIAA1549_uc011kqk.2_Missense_Mutation_p.S133G|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1349G	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1349						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCCTTCACACTAGGGATCTGC	0.478000			O	BRAF	pilocytic astrocytoma									27			18		0	0	0.038395	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196359	102196359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:102196359G>A	uc003dvt.1	+	10	1293	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G382E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G382E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	382						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTCATTCTGGGAGTTACGAGC	0.483000														176			93		0	0	0.048971	0	0
MPP6	51678	broad.mit.edu	37	7	24663358	24663358	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:24663358C>T	uc003swx.3	+	2	371	c.72C>T	c.(70-72)ttC>ttT	p.F24F	MPP6_uc003swy.3_Silent_p.F24F	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	24	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACCTAATTTTCCTCAAGGGAA	0.348000														51			20		0	0	0.069288	0	0
SHROOM1	134549	broad.mit.edu	37	5	132158506	132158506	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:132158506G>A	uc003kxx.3	-	9	3346	c.2541C>T	c.(2539-2541)ttC>ttT	p.F847F	SHROOM1_uc003kxy.2_Silent_p.F842F	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	847					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGAAGAGGGAAGGGCGGCT	0.607000														17			6		0	0	0.038147	0	0
TNIK	23043	broad.mit.edu	37	3	170879075	170879075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:170879075C>T	uc003fhh.2	-	10	1345	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	TNIK_uc003fhi.2_Missense_Mutation_p.D334N|TNIK_uc003fhj.2_Missense_Mutation_p.D334N|TNIK_uc003fhk.2_Missense_Mutation_p.D334N|TNIK_uc003fhl.2_Missense_Mutation_p.D334N|TNIK_uc003fhm.2_Missense_Mutation_p.D334N|TNIK_uc003fhn.2_Missense_Mutation_p.D334N|TNIK_uc003fho.2_Missense_Mutation_p.D334N	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	334	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTCCTGAGTCATTCTCCTCC	0.418000														37			18		0	0	0.049695	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142266	55142266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:55142266C>T	uc003pcl.3	+	4	1166	c.851C>T	c.(850-852)tCc>tTc	p.S284F	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	284					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAACGAAGTCCCGGATGAGC	0.502000														8			18		0	0	0.038395	0	0
VGLL1	51442	broad.mit.edu	37	X	135618248	135618248	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:135618248G>A	uc004ezy.3	+	1	239	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AGACGGAATGGAATTCCCGGT	0.502000														19			46		0	0	0.045515	0	0
MYOM3	127294	broad.mit.edu	37	1	24417294	24417294	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:24417294C>T	uc001bin.4	-	11	1588	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	MYOM3_uc001bim.4_Silent_p.R132R|MYOM3_uc001bio.3_Silent_p.R475R|MYOM3_uc001bip.1_Silent_p.R132R	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	475										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCTGTCTTCCTCCGGGCTG	0.582000														84			39		0	0	0.092188	0	0
LRG1	116844	broad.mit.edu	37	19	4538414	4538414	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:4538414G>A	uc002mau.3	-	1	593	c.582C>T	c.(580-582)gaC>gaT	p.D194D	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	194						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCCCAAGGTCAAGGGTGC	0.597000														174			64		0	0	0.048971	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21450448	21450448	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:21450448A>G	uc001rer.3	-	7	1216	c.965T>C	c.(964-966)aTa>aCa	p.I322T	SLCO1A2_uc010siq.2_Missense_Mutation_p.I190T|SLCO1A2_uc001res.3_Missense_Mutation_p.I322T|SLCO1A2_uc010sio.2_Missense_Mutation_p.I190T|SLCO1A2_uc010sip.2_Missense_Mutation_p.I190T|SLCO1A2_uc001ret.3_Missense_Mutation_p.I320T|SLCO1A2_uc001reu.2_Missense_Mutation_p.I302T	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	322					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACTTACAAGTATGAAAAGCAT	0.348000														34			8		0	0	0.058154	0	0
TREML2	79865	broad.mit.edu	37	6	41165891	41165891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:41165891C>T	uc010jxm.1	-	1	511	c.332G>A	c.(331-333)gGg>gAg	p.G111E		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	111	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTACAGGATCCCAGAGGTGTT	0.622000														32			19		0	0	0.038395	0	0
CPNE9	151835	broad.mit.edu	37	3	9759820	9759820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:9759820G>A	uc021wst.1	+	15	1210	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	CPNE9_uc003bsd.3_Missense_Mutation_p.D346N	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	347	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CTATGACAGTGATAAGCTCTT	0.577000														43			24		0	0	0.083992	0	0
USP42	84132	broad.mit.edu	37	7	6189856	6189856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:6189856G>A	uc011jwo.1	+	12	2152	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	USP42_uc010kth.1_Missense_Mutation_p.D610N|USP42_uc011jwp.2_Missense_Mutation_p.D677N|USP42_uc011jwq.2_Missense_Mutation_p.D484N|USP42_uc011jwr.1_Missense_Mutation_p.D522N	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	677					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCTAGCGCCTGATGGTGCCAG	0.562000														26			15		0	0	0.038395	0	0
X97876	0	broad.mit.edu	37	9	66500841	66500841	+	RNA	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:66500841C>T	uc004aed.1	+	2		c.934C>T								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CCACCTGGTGCCCAGGGCTCC	0.632000														20			3		0	0	0.004672	0	0
BNC1	646	broad.mit.edu	37	15	83932004	83932004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:83932004G>A	uc002bjt.1	-	3	2087	c.1999C>T	c.(1999-2001)Cct>Tct	p.P667S	BNC1_uc010uos.1_Missense_Mutation_p.P655S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	667					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCAGAAAAAGGAACTTGGGGT	0.532000														44			41		0	0	0.092188	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146324	5146324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:5146324G>A	uc003jdl.3	+	2	395	c.257G>A	c.(256-258)aGa>aAa	p.R86K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R86K|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R86K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	86					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGCGGCGGAGAAGAGCAGTG	0.542000														49			18		0	0	0.049695	0	0
FAT3	120114	broad.mit.edu	37	11	92086899	92086899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:92086899G>A	uc001pdj.4	+	0	1638	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	541	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCCTCCCCAGAAATTTACAG	0.398000										TCGA Ovarian(4;0.039)				472			272		0	0	0.048971	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601475	58601475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:58601475C>T	uc010yht.1	-	1	358	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ZSCAN18_uc002qrj.3_Missense_Mutation_p.E54K|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.E54K|ZSCAN18_uc002qri.2_Missense_Mutation_p.E54K|ZSCAN18_uc002qrk.1_Missense_Mutation_p.E54K|ZSCAN18_uc002qrl.2_Missense_Mutation_p.E54K	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	54	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E54*(1)|p.E54K(1)|p.E110*(1)|p.E110K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TAGACAAATTCCCGGAAACGC	0.677000														31			16		0	0	0.043863	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444294	5444294	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:5444294G>A	uc010qzd.2	+	0	954	c.864G>A	c.(862-864)gtG>gtA	p.V288V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCCCCGGTGATGAACCCCA	0.448000														46			24		0	0	0.076483	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														16			4		0	0	0.009096	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064127	79064128	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:79064127_79064128GG>AA	uc002bej.4	-	14	2386_2387	c.2175_2176CC>TT	c.(2173-2178)atccgc>atTTgc	p.R726C	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.R726C	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	726	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCTTGGATGCGGATCTCGCGTG	0.614000														50			19		0	0	0.004672	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113208441	113208441	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:113208441C>T	uc001vse.1	-	7	1083	c.896G>A	c.(895-897)tGg>tAg	p.W299*	TUBGCP3_uc010tjq.1_Nonsense_Mutation_p.W289*|TUBGCP3_uc001vsf.3_Nonsense_Mutation_p.W299*|TUBGCP3_uc001vsg.1_Nonsense_Mutation_p.W299*	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	299					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					ATTATGCAACCATCCCAACTC	0.438000														45			37		0	0	0.074837	0	0
OR4M2	390538	broad.mit.edu	37	15	22369431	22369431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:22369431C>T	uc010tzu.2	+	0	954	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTACGTAATCCCATTATTTA	0.363000														84			24		0	0	0.076483	0	0
PDS5B	23047	broad.mit.edu	37	13	33309342	33309342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:33309342G>A	uc010abf.3	+	20	2467	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	761					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAGCAACCTGGAACATCTCAT	0.373000														45			18		0	0	0.043863	0	0
LMX1A	4009	broad.mit.edu	37	1	165175244	165175244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:165175244C>T	uc001gcz.2	-	7	1039	c.845G>A	c.(844-846)gGg>gAg	p.G282E	LMX1A_uc021pdz.1_Missense_Mutation_p.G282E|LMX1A_uc021pdy.1_Missense_Mutation_p.G33E|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	282						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCCTTCCATCCCAGCACTCCC	0.567000														81			24		0	0	0.083992	0	0
NUBP2	10101	broad.mit.edu	37	16	1837746	1837746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:1837746C>T	uc002cmw.4	+	3	492	c.403C>T	c.(403-405)Ccg>Tcg	p.P135S	NUBP2_uc002cmx.4_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	135						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GGACACGCCCCCGGGGACCTC	0.682000														50			50		0	0	0.048971	0	0
OR5B21	219968	broad.mit.edu	37	11	58275359	58275359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:58275359C>T	uc010rki.2	-	0	220	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGGCTACAGCTGATGAGTAA	0.517000														43			29		0	0	0.034045	0	0
ATP10D	57205	broad.mit.edu	37	4	47593286	47593286	+	Missense_Mutation	SNP	C	T	T	rs112565536		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:47593286C>T	uc003gxk.1	+	22	4333	c.4169C>T	c.(4168-4170)tCc>tTc	p.S1390F	ATP10D_uc003gxl.1_Missense_Mutation_p.S638F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1390					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCAGCAAGTTCCTGTGCTATT	0.453000														127			82		0	0	0.048971	0	0
ABCB11	8647	broad.mit.edu	37	2	169781241	169781241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:169781241G>A	uc002ueo.1	-	26	3817	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W	ABCB11_uc010zda.1_Missense_Mutation_p.R649W|ABCB11_uc010zdb.1_Missense_Mutation_p.R707W	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1231	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACAATGGCCCGAGCAATAGCA	0.398000														59			25		0	0	0.083992	0	0
GPR142	350383	broad.mit.edu	37	17	72368514	72368514	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:72368514G>A	uc021ucp.1	+	3	1164	c.1155G>A	c.(1153-1155)cgG>cgA	p.R385R	GPR142_uc010wqy.2_Silent_p.R388R	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	388						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGTCCACCGGGACTGGAGGG	0.612000														125			42		0	0	0.048971	0	0
HIPK4	147746	broad.mit.edu	37	19	40886607	40886607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:40886607C>T	uc002onp.3	-	2	1576	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	431						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGACTCAGGTCATCCAGCTGG	0.627000														81			73		0	0	0.048971	0	0
SLC15A3	51296	broad.mit.edu	37	11	60704797	60704797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:60704797C>T	uc001nqn.2	-	7	1874	c.1640G>A	c.(1639-1641)gGc>gAc	p.G547D	SLC15A3_uc001nqo.2_3'UTR	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	547					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGCCTGAATGCCAGCCAGCAG	0.587000														64			38		0	0	0.104719	0	0
ABCB11	8647	broad.mit.edu	37	2	169781287	169781287	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:169781287C>T	uc002ueo.1	-	26	3771	c.3645G>A	c.(3643-3645)caG>caA	p.Q1215Q	ABCB11_uc010zda.1_Silent_p.Q633Q|ABCB11_uc010zdb.1_Silent_p.Q691Q	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1215	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.Q1215H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTTGAGACCCCTGGGACCCAA	0.423000														44			28		0	0	0.034045	0	0
ATG5	9474	broad.mit.edu	37	6	106696051	106696051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:106696051G>A	uc003prf.3	-	5	900	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	ATG5_uc010kdb.3_Silent_p.F181F|ATG5_uc003prg.3_Missense_Mutation_p.R105C|ATG5_uc010kdc.3_Silent_p.F59F	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	183					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GGGATATAACGAAATCCATTT	0.313000														18			24		0	0	0.030593	0	0
ZNF835	90485	broad.mit.edu	37	19	57175432	57175432	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:57175432G>A	uc010ygn.2	-	1	1362	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCGGTGCTGGAGGAGGTGG	0.667000														20			18		0	0	0.033300	0	0
IQSEC3	440073	broad.mit.edu	37	12	283825	283825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:283825G>A	uc001qhw.2	+	13	3175	c.3175G>A	c.(3175-3177)Gga>Aga	p.G1059R		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	1059					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGCCGAGAGGGGAGCGCCGGT	0.647000														12			7		0	0	0.029380	0	0
OR5A1	219982	broad.mit.edu	37	11	59211401	59211401	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:59211401C>T	uc001nnx.1	+	0	760	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGTGACTCTGCTGTTTGGGAC	0.532000														134			93		0	0	0.048971	0	0
ADH7	131	broad.mit.edu	37	4	100350697	100350697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:100350697G>A	uc003huv.2	-	1	389	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	ADH7_uc021xqj.1_Missense_Mutation_p.R58C	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	50					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.V49G(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ACCTTAATGCGAACTTCTTTA	0.403000														20			10		0	0	0.080935	0	0
PRLR	5618	broad.mit.edu	37	5	35065428	35065428	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:35065428C>T	uc003jjm.3	-	9	2191	c.1632G>A	c.(1630-1632)aaG>aaA	p.K544K	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.K443K|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	544					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGCATACTCCTTATTGTTCT	0.478000														37			34		0	0	0.054565	0	0
AES	166	broad.mit.edu	37	19	3061173	3061173	+	Missense_Mutation	SNP	T	G	G	rs1126519		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:3061173T>G	uc002lxb.1	-	1	350	c.311A>C	c.(310-312)cAa>cCa	p.Q104P	AES_uc002lwy.1_Missense_Mutation_p.Q37P|AES_uc002lwz.1_Missense_Mutation_p.Q37P	NM_198969	NP_945320	Q08117	AES_HUMAN	Homo sapiens amino-terminal enhancer of split (AES), transcript variant 1, mRNA.	37	Gln-rich (Q domain).				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			lung(8)	8		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)		GTACTGAGCTTGCAGTAGCTG	0.607000														142			17		0	0	0.043863	0	0
AADAT	51166	broad.mit.edu	37	4	170994383	170994383	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:170994383G>A	uc003isr.3	-	4	900	c.558C>T	c.(556-558)ccC>ccT	p.P186P	AADAT_uc003iss.3_Silent_p.P186P|AADAT_uc003ist.3_Silent_p.P190P	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	186					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGTTTTTCTGGGGATTCTTTG	0.398000														94			48		0	0	0.048971	0	0
CPNE5	57699	broad.mit.edu	37	6	36767803	36767803	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:36767803G>A	uc003omr.1	-	3	295	c.228C>T	c.(226-228)ttC>ttT	p.F76F	CPNE5_uc003oms.1_Silent_p.F38F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	76	C2 1.							p.F76F(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTGCGCACGAAGTCAGGAT	0.552000														31			17		0	0	0.038395	0	0
ITGA5	3678	broad.mit.edu	37	12	54795612	54795612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:54795612G>A	uc001sga.3	-	21	2322	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	752					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CGGAGATGAGGGACTGTAAAC	0.552000														20			16		0	0	0.049695	0	0
MYO3A	53904	broad.mit.edu	37	10	26414347	26414347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:26414347C>T	uc001isn.2	+	18	2284	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	MYO3A_uc009xko.1_Missense_Mutation_p.R642W|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	642	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	p.R642W(2)|p.R642L(1)		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						GCTTTGCATTCGGGCAGATGA	0.418000														7			17		0	0	0.028581	0	0
DNAH5	1767	broad.mit.edu	37	5	13862717	13862717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:13862717G>A	uc003jfd.2	-	28	4778	c.4736C>T	c.(4735-4737)tCg>tTg	p.S1579L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1579	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGATTTCCGAGGTACTGTC	0.458000									Kartagener syndrome					65			17		0	0	0.033300	0	0
CMYA5	202333	broad.mit.edu	37	5	79025595	79025595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:79025595C>T	uc003kgc.3	+	1	1079	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	336						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGCCACATCTGCATTGGAG	0.453000														37			16		0	0	0.024245	0	0
CCR2	729230	broad.mit.edu	37	3	46399710	46399710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:46399710G>A	uc003cpn.4	+	1	1177	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	CCR2_uc003cpm.4_Missense_Mutation_p.R231Q|CCR2_uc021wxa.1_Missense_Mutation_p.R231Q	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	231					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ACCCTGCTTCGGTGTCGAAAC	0.453000														283			135		0	0	0.048971	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003316	75003316	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:75003316C>T	uc004ecj.2	-	0	1764	c.1571G>A	c.(1570-1572)tGa>tAa	p.*524*		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	0										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCTAGACTTCACGTGGGGTC	0.463000														10			36		0	0	0.074837	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285260	58285260	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:58285260G>A	uc002aex.3	-	5	840	c.567C>T	c.(565-567)ccC>ccT	p.P189P	ALDH1A2_uc010ugv.2_Silent_p.P168P|ALDH1A2_uc002aey.3_Silent_p.P189P|ALDH1A2_uc010ugw.2_Silent_p.P160P|ALDH1A2_uc002aew.3_Silent_p.P93P	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	189					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACATCAGCAGGGGGAAGTTCC	0.413000														22			31		0	0	0.059317	0	0
PLXNA4	91584	broad.mit.edu	37	7	131895818	131895818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:131895818G>A	uc003vra.4	-	9	2411	c.2182C>T	c.(2182-2184)Ccc>Tcc	p.P728S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	728						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGGGCTGGGGGAGGTTCTTG	0.632000														20			9		0	0	0.047766	0	0
SEMA3D	223117	broad.mit.edu	37	7	84751159	84751159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:84751159G>A	uc003uic.3	-	0	89	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	SEMA3D_uc010led.3_Missense_Mutation_p.H17Y|SEMA3D_uc010lee.1_Missense_Mutation_p.H17Y	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	17					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.F16F(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GGAAAAAGGTGAAAATCTTGG	0.343000														39			12		0	0	0.105934	0	0
THSD7B	80731	broad.mit.edu	37	2	138400173	138400174	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:138400173_138400174CC>TT	uc002tva.1	+	19	3825_3826	c.3825_3826CC>TT	c.(3823-3828)gtcctt>gtTTtt	p.L1276F	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAGCTGGGTCCTTGGCAACTG	0.480000														89			21		0	0	0.004672	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651402	1651402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:1651402C>T	uc001lty.3	+	0	370	c.332C>T	c.(331-333)tCc>tTc	p.S111F	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	111	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGTGGCTCCTGTGGGGGG	0.697000														75			37		0	0	0.069456	0	0
TTC12	54970	broad.mit.edu	37	11	113235695	113235695	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:113235695T>C	uc001pnv.3	+	20	2078	c.1973T>C	c.(1972-1974)tTa>tCa	p.L658S	TTC12_uc001pnu.3_Missense_Mutation_p.L652S|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.L502S	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	652							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGGTCTTGTTAAAGCTTGCA	0.577000														37			19		0	0	0.043863	0	0
THSD7A	221981	broad.mit.edu	37	7	11676191	11676191	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:11676191G>A	uc021zzo.1	-	1	840	c.588C>T	c.(586-588)atC>atT	p.I196I	THSD7A_uc021zzn.1_Silent_p.I196I	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	196	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTCAGACACGATGCAATCTT	0.577000										HNSCC(18;0.044)				46			24		0	0	0.091800	0	0
C6orf118	168090	broad.mit.edu	37	6	165715499	165715499	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:165715499C>T	uc003qum.4	-	1	348	c.312G>A	c.(310-312)agG>agA	p.R104R	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	104										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTCCTTCATCCTCGCCACCT	0.682000														41			66		0	0	0.048971	0	0
GLIS1	148979	broad.mit.edu	37	1	54060487	54060487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:54060487C>T	uc001cvr.1	-	2	656	c.89G>A	c.(88-90)aGc>aAc	p.S30N		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	30					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGTGGCGAGGCTTCGGCCCGG	0.706000														32			14		0	0	0.020292	0	0
SPEF2	79925	broad.mit.edu	37	5	35763793	35763793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:35763793G>A	uc003jjo.3	+	25	3901	c.3790G>A	c.(3790-3792)Gta>Ata	p.V1264I	SPEF2_uc003jjp.1_Missense_Mutation_p.V750I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1264					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTTAGCAGTATCTCACAT	0.408000														34			36		0	0	0.086207	0	0
GRID2	2895	broad.mit.edu	37	4	94006369	94006369	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:94006369C>T	uc011cdt.2	+	2	726	c.468C>T	c.(466-468)atC>atT	p.I156I	GRID2_uc010ikx.3_Silent_p.I156I|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	156					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATGATGTTATCCTAAGAGTGG	0.438000														82			40		0	0	0.039052	0	0
EML5	161436	broad.mit.edu	37	14	89220907	89220907	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:89220907C>T	uc021ryf.1	-	1	555	c.306G>A	c.(304-306)aaG>aaA	p.K102K	EML5_uc021ryg.1_Silent_p.K102K	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	102						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TATGAACATCCTTTAAAACTG	0.368000														12			15		0	0	0.033300	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377589	50377589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:50377589G>A	uc004dpe.2	-	3	1510	c.1484C>T	c.(1483-1485)cCc>cTc	p.P495L	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.P379L	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	495					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCATGTGGGGGACTGCTTTG	0.527000														25			65		0	0	0.048971	0	0
HRNR	388697	broad.mit.edu	37	1	152191326	152191326	+	Missense_Mutation	SNP	C	T	T	rs149730442		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:152191326C>T	uc001ezt.1	-	2	2855	c.2779G>A	c.(2779-2781)Ggc>Agc	p.G927S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	927					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)			GAAGACTGGCCTGAGCCAGAC	0.607000														164			47		0	0	0.048971	0	0
VAMP7	6845	broad.mit.edu	37	X	155119165	155119165	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:155119165C>T	uc004fnr.3	+	1	214	c.36C>T	c.(34-36)acC>acT	p.T12T	VAMP7_uc011naa.2_5'UTR|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Silent_p.T12T|VAMP7_uc004fns.3_Silent_p.T12T|VAMP7_uc011nac.2_5'UTR	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	12	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGGGGACCACTATCCTTG	0.403000														65			21		0	0	0.069288	0	0
AK5	26289	broad.mit.edu	37	1	78001663	78001663	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:78001663C>T	uc001dhn.3	+	12	1897	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A	AK5_uc001dho.3_Silent_p.A494A	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	520					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCCTAGAAGCCTACTACCGAG	0.567000														39			23		0	0	0.108266	0	0
GPR61	83873	broad.mit.edu	37	1	110086489	110086489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:110086489G>A	uc021orh.1	+	0	845	c.845G>A	c.(844-846)gGa>gAa	p.G282E	GPR61_uc001dxy.2_Missense_Mutation_p.G282E	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	282						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACGTTTGGGGGAGGGAAAGCA	0.622000														67			74		0	0	0.048971	0	0
NAV3	89795	broad.mit.edu	37	12	78583874	78583874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:78583874G>A	uc001syp.3	+	33	6339	c.6166G>A	c.(6166-6168)Gga>Aga	p.G2056R	NAV3_uc001syo.3_Missense_Mutation_p.G2034R|NAV3_uc010sub.2_Missense_Mutation_p.G1513R|NAV3_uc009zsf.3_Missense_Mutation_p.G865R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2056						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S2055F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATACTCTCAGGACCGAGTGG	0.368000										HNSCC(70;0.22)				23			22		0	0	0.062417	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531413	140531413	+	Silent	SNP	C	T	T	rs144225778		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140531413C>T	uc003lir.3	+	0	1575	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S524A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCTTTCGAGTTCCGCG	0.672000														77			29		0	0	0.034045	0	0
LILRA1	11024	broad.mit.edu	37	19	55086387	55086387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:55086387C>T	uc010ern.3	+	4	1011	c.542C>T	c.(541-543)tCc>tTc	p.S181F	LILRA1_uc002qgg.4_Missense_Mutation_p.S181F|LILRA1_uc002qgf.3_Missense_Mutation_p.S181F|LILRA1_uc010yfe.1_Missense_Mutation_p.S181F|LILRA1_uc010yff.1_Missense_Mutation_p.S169F|LILRA1_uc010ero.3_Missense_Mutation_p.S169F|LILRA1_uc010yfg.1_Missense_Mutation_p.S181F			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCATCTTCTCCGTGGGCCCC	0.567000														76			72		0	0	0.048971	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116056780	116056780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:116056780G>A	uc001lbn.3	-	17	2688	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L	AFAP1L2_uc001lbo.3_Missense_Mutation_p.S792L|AFAP1L2_uc010qse.2_Missense_Mutation_p.S849L|AFAP1L2_uc001lbp.3_Missense_Mutation_p.S820L|AFAP1L2_uc001lbm.3_Missense_Mutation_p.S235L|AFAP1L2_uc010qsd.2_Missense_Mutation_p.S358L|AFAP1L2_uc001lbq.1_Missense_Mutation_p.S318L	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	796					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACCACGACCGAGAGAGGCCT	0.567000														39			33		0	0	0.059317	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930691	133930691	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:133930691G>A	uc001lkx.4	+	1	246	c.246G>A	c.(244-246)gaG>gaA	p.E82E		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.									p.E82D(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCACGAGGAGAAGATGAAGG	0.592000														21			27		0	0	0.099896	0	0
MARK4	57787	broad.mit.edu	37	19	45762272	45762272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:45762272C>T	uc002pbb.2	+	1	408	c.77C>T	c.(76-78)tCc>tTc	p.S26F	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.S26F	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	26					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGTGGCCGCTCCTCGGACAAA	0.647000														28			25		0	0	0.091800	0	0
SPAG17	200162	broad.mit.edu	37	1	118574476	118574476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:118574476C>T	uc001ehk.2	-	24	3516	c.3448G>A	c.(3448-3450)Gat>Aat	p.D1150N		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1150						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTTCTAAATCAGGATCCTTA	0.318000														59			21		0	0	0.055883	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519169	113519169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:113519169C>T	uc010ljy.1	-	3	2009	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	660					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCCTGACTTTCCAGAACATTC	0.368000														138			65		0	0	0.048971	0	0
C3orf20	84077	broad.mit.edu	37	3	14724232	14724232	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:14724232C>T	uc003byy.3	+	2	464	c.12C>T	c.(10-12)atC>atT	p.I4I	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Silent_p.I4I	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	4						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGAGTTACATCAAGAGTAACC	0.483000														104			79		0	0	0.048971	0	0
PAQR9	344838	broad.mit.edu	37	3	142681139	142681139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:142681139G>A	uc003evg.3	-	0	1040	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	347						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACAGTACCCGAGAAAGTGGG	0.567000														86			58		0	0	0.048971	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187258	140187258	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140187258C>T	uc003lhi.2	+	0	587	c.486C>T	c.(484-486)atC>atT	p.I162I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.I162I|PCDHAC2_uc011daa.2_Silent_p.I162I	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	177	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGATATCGGGGAGAACG	0.527000														78			19		0	0	0.038395	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563979	56563979	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:56563979A>C	uc001skb.3	-	21	2374	c.2268T>G	c.(2266-2268)aaT>aaG	p.N756K	SMARCC2_uc001skd.3_Missense_Mutation_p.N787K|SMARCC2_uc001ska.3_Missense_Mutation_p.N787K|SMARCC2_uc001skc.3_Missense_Mutation_p.N786K|SMARCC2_uc010sqf.2_Missense_Mutation_p.N676K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	756	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity	p.G755W(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAGCCTCGTCATTCCCGCTCT	0.498000														36			22		0	0	0.108266	0	0
INTU	27152	broad.mit.edu	37	4	128584651	128584651	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:128584651T>C	uc003ifk.2	+	3	987	c.884T>C	c.(883-885)gTt>gCt	p.V295A	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	295										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GGAGAAGAGGTTGAAGGTATC	0.448000														77			51		0	0	0.048971	0	0
SCEL	8796	broad.mit.edu	37	13	78176802	78176802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:78176802G>A	uc001vki.3	+	16	1161	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	SCEL_uc010thx.2_Missense_Mutation_p.E309K|SCEL_uc001vkj.3_Missense_Mutation_p.E311K	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	331	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACAAAATCTCGAATCTGTTGC	0.338000														104			57		0	0	0.048971	0	0
TSPAN8	7103	broad.mit.edu	37	12	71537976	71537976	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:71537976G>A	uc009zrt.1	-	1	240	c.78C>T	c.(76-78)atC>atT	p.I26I	TSPAN8_uc001swk.1_Silent_p.I26I|TSPAN8_uc001swj.1_Silent_p.I26I	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	26					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTAATGCTAGGATCAAGATAC	0.358000														128			49		0	0	0.048971	0	0
DNAH2	146754	broad.mit.edu	37	17	7683947	7683947	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7683947G>A	uc002giu.1	+	37	5865	c.5851_splice	c.e37-1	p.I1951_splice		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1951	AAA 1 (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)				TGGTTCCCCAGATTCTGGCCA	0.542000														50			80		0	0	0.048971	0	0
BAI3	577	broad.mit.edu	37	6	70070788	70070788	+	Missense_Mutation	SNP	G	A	A	rs144968426		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:70070788G>A	uc010kak.3	+	27	3899	c.3623G>A	c.(3622-3624)cGa>cAa	p.R1208Q	BAI3_uc003pev.4_Missense_Mutation_p.R1208Q|BAI3_uc011dxx.2_Missense_Mutation_p.R414Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1208					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1208Q(2)|p.R1208*(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCCTTGCCGAGCAGCCACA	0.358000														18			19		0	0	0.049695	0	0
STK35	140901	broad.mit.edu	37	20	2083990	2083990	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:2083990C>T	uc002wfw.4	+	1	871	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	STK35_uc010zpu.2_Silent_p.L158L	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	291	Protein kinase.			YLRLVETSLKGERILGYAEE -> GNGEGRRPQRYTKPGAE KAK (in Ref. 4; AAI11574).		cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						TTACCTGCGCCTGGTGGAGAC	0.637000														47			7		0	0	0.058154	0	0
KCNU1	157855	broad.mit.edu	37	8	36644919	36644919	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:36644919C>T	uc010lvw.3	+	1	378	c.291C>T	c.(289-291)gcC>gcT	p.A97A	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	97						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTTTCAGCCCAGACCTTTG	0.423000														13			14		0	0	0.024245	0	0
RAD54L2	23132	broad.mit.edu	37	3	51664882	51664882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:51664882C>T	uc011bdt.2	+	5	885	c.760C>T	c.(760-762)Cac>Tac	p.H254Y	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	254						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)		CAACCTAAACCACCCTCCAGA	0.507000														64			43		0	0	0.048971	0	0
ABCA13	154664	broad.mit.edu	37	7	48547507	48547507	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:48547507C>T	uc003toq.2	+	49	13410	c.13386C>T	c.(13384-13386)atC>atT	p.I4462I	ABCA13_uc010kys.1_Silent_p.I1537I|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.I192I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4462					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTCTGCATCGTGCTGGGAT	0.567000														21			7		0	0	0.038147	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713469	70713469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:70713469C>T	uc003heo.3	-	5	651	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	180					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTTCCCTTTTCCCACCAAGAT	0.368000														72			46		0	0	0.048971	0	0
SATB2	23314	broad.mit.edu	37	2	200137332	200137332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:200137332G>A	uc002uuy.2	-	10	2621	c.1804C>T	c.(1804-1806)Ccc>Tcc	p.P602S	SATB2_uc010fsq.2_Missense_Mutation_p.P484S|SATB2_uc002uva.2_Missense_Mutation_p.P602S|SATB2_uc002uuz.2_Missense_Mutation_p.P602S	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	602						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGGTGGGGGAGGCGCTTCT	0.502000														128			41		0	0	0.048971	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882345	228882345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:228882345C>T	uc002vpq.2	-	6	3272	c.3225G>A	c.(3223-3225)tgG>tgA	p.W1075*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.W1075*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.W1075*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1075						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGCCGGCTCCACCTGTCGC	0.597000														38			42		0	0	0.045515	0	0
SLC29A4	222962	broad.mit.edu	37	7	5334561	5334561	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:5334561G>A	uc003sod.3	+	5	776	c.615G>A	c.(613-615)ggG>ggA	p.G205G	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.G205G|SLC29A4_uc003soe.3_Silent_p.G191G	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	205					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGATGACCGGGGAGAGTGAGT	0.627000														151			35		0	0	0.074837	0	0
FCGBP	8857	broad.mit.edu	37	19	40364436	40364436	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:40364436C>T	uc002omp.4	-	31	14215	c.14207_splice	c.e31-1	p.P4736_splice		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4736						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACTGCAAGGCTGTGGGGACA	0.632000														31			9		0	0	0.047766	0	0
TRAF6	7189	broad.mit.edu	37	11	36516595	36516595	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:36516595G>A	uc001mwq.2	-	5	990	c.609C>T	c.(607-609)atC>atT	p.I203I	TRAF6_uc001mws.2_Silent_p.I203I	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	203	Interaction with TAX1BP1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTGGTCATGGATCTGAATTT	0.264000														49			18		0	0	0.055883	0	0
GRIK4	2900	broad.mit.edu	37	11	120852850	120852850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:120852850G>A	uc001pxn.2	+	19	2718	c.2431G>A	c.(2431-2433)Gtt>Att	p.V811I	GRIK4_uc009zaw.1_Missense_Mutation_p.V811I|GRIK4_uc009zax.1_Missense_Mutation_p.V811I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	811					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AATCTTTGTGGTTCTTATTTG	0.368000														109			81		0	0	0.048971	0	0
OSBPL2	9885	broad.mit.edu	37	20	60856132	60856132	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:60856132C>T	uc002yck.1	+	7	895	c.693C>T	c.(691-693)acC>acT	p.T231T	OSBPL2_uc002ycl.1_Silent_p.T219T|OSBPL2_uc011aah.1_Silent_p.T139T|OSBPL2_uc002ycm.1_Silent_p.T43T	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	231					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGCCTACACCTGGACCAACC	0.532000														113			36		0	0	0.111260	0	0
OR8H1	219469	broad.mit.edu	37	11	56058443	56058443	+	Silent	SNP	G	A	A	rs141901122		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:56058443G>A	uc010rje.2	-	0	96	c.96C>T	c.(94-96)ctC>ctT	p.L32L		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GGTATATCAGGAGAAATAGTA	0.428000														99			40		0	0	0.080422	0	0
MYO16	23026	broad.mit.edu	37	13	109535464	109535464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:109535464C>T	uc010agk.2	+	12	2105	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	MYO16_uc001vqt.1_Missense_Mutation_p.L473F|MYO16_uc001vqu.1_Missense_Mutation_p.L273F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	473	Myosin head-like 1.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCTCCTCACCTCTTCTCCTG	0.562000														130			80		0	0	0.048971	0	0
OR51A2	401667	broad.mit.edu	37	11	4976408	4976408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4976408G>A	uc010qyt.2	-	0	536	c.536C>T	c.(535-537)tCc>tTc	p.S179F		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGACAGTAGGAATGGGATAA	0.408000														111			56		0	0	0.048971	0	0
ZNF155	7711	broad.mit.edu	37	19	44501512	44501512	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:44501512C>T	uc010xwt.1	+	5	1720	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	ZNF155_uc002oxy.1_Silent_p.D501D|ZNF155_uc002oxz.1_Silent_p.D501D	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	501						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACCGTAAAGACCAGCCGAGAG	0.428000														56			41		0	0	0.098360	0	0
SLC7A6	9057	broad.mit.edu	37	16	68325482	68325482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:68325482G>A	uc002evt.2	+	7	1253	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	SLC7A6_uc010cfb.2_Non-coding_Transcript|SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Missense_Mutation_p.G314S|SLC7A6_uc010cfc.1_Non-coding_Transcript	NM_001076785	NP_003974	Q92536	YLAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA.	314					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CCAGACGTTTGGCATGTTCAG	0.507000														43			85		0	0	0.048971	0	0
AP2B1	163	broad.mit.edu	37	17	33954524	33954524	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:33954524G>T	uc002hjr.3	+	8	1248	c.1059_splice	c.e8+1	p.Q353_splice	AP2B1_uc002hjq.3_Splice_Site_p.Q353_splice|AP2B1_uc010wci.2_Splice_Site_p.Q315_splice|AP2B1_uc002hjs.3_Splice_Site_p.Q296_splice|AP2B1_uc002hjt.3_Splice_Site_p.Q353_splice|AP2B1_uc010ctv.3_Splice_Site_p.Q353_splice|AP2B1_uc010wcj.2_Splice_Site_p.Q90_splice	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	353					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACATTGCTCAGGTCAGACTTT	0.383000														11			20		3.8784e-16	3.98772e-16	0.062417	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64597720	64597720	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:64597720G>A	uc001obs.4	-	28	3313	c.3313C>T	c.(3313-3315)Cga>Tga	p.R1105*		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1105	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGCGCAAGTCGATCctggtct	0.612000														9			14		0	0	0.020292	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595640	140595640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140595640G>A	uc003lja.1	+	0	2132	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	649	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAATGGCGAGCCTCCGCG	0.726000														42			18		0	0	0.076483	0	0
TTN	7273	broad.mit.edu	37	2	179583624	179583624	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179583624G>A	uc021vsy.1	-	80	20796	c.20571C>T	c.(20569-20571)atC>atT	p.I6857I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I3518I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7784	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTGCCTCTGATGACACTGG	0.493000														18			16		0	0	0.024245	0	0
C1orf173	127254	broad.mit.edu	37	1	75037536	75037536	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:75037536C>T	uc001dgg.3	-	13	4077	c.3858G>A	c.(3856-3858)agG>agA	p.R1286R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1286	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCGCTTCCTCCCTGAACTTTT	0.567000														159			58		0	0	0.048971	0	0
CHIT1	1118	broad.mit.edu	37	1	203186114	203186114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:203186114G>A	uc001gzn.2	-	10	1400	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.S197F|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.S426F	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	435	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTAGAAGCTGGACCGTTCCCG	0.602000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			74		0	0	0.048971	0	0
NLRP13	126204	broad.mit.edu	37	19	56424469	56424469	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:56424469C>T	uc010ygg.2	-	4	739	c.714G>A	c.(712-714)ggG>ggA	p.G238G		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	238	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTCCCAACCCCTGCCCTCC	0.512000														99			63		0	0	0.048971	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720598	140720598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140720598C>T	uc003ljk.2	+	0	2245	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S687L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	688					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)			CCCAACGATTCGGACCTCACT	0.682000														113			42		0	0	0.048971	0	0
ITIH4	3700	broad.mit.edu	37	3	52850926	52850926	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52850926C>T	uc011bem.2	-	20	2488	c.2460G>A	c.(2458-2460)aaG>aaA	p.K820K	ITIH4_uc011bel.2_Silent_p.K529K|ITIH4_uc003dfy.3_Silent_p.K610K|ITIH4_uc003dfz.3_Silent_p.K815K|ITIH4_uc011ben.2_Silent_p.K785K	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	815					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATAGCGTCTCCTTCCACTTGT	0.582000														171			94		0	0	0.048971	0	0
VSIG8	391123	broad.mit.edu	37	1	159827553	159827553	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:159827553G>T	uc001fuh.3	-	3	770	c.634C>A	c.(634-636)Cac>Aac	p.H212N	VSIG8_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA.	212	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					ATGGAGCTGTGGAAGGACTCC	0.572000														27			23		1.12875e-08	1.14891e-08	0.030593	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756668	94756668	+	Missense_Mutation	SNP	C	T	T	rs143859072	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:94756668C>T	uc001yct.3	-	1	729	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	SERPINA10_uc001ycu.4_Missense_Mutation_p.R88Q	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R88L(2)|p.R88R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGAGATCTTTCGCAGCAGGCT	0.572000														41			12		0	0	0.093190	0	0
KL	9365	broad.mit.edu	37	13	33628014	33628014	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:33628014C>T	uc001uus.3	+	1	938	c.930C>T	c.(928-930)gaC>gaT	p.D310D	KL_uc001uur.1_Silent_p.D3D	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	310	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAATGACCGACCACAGCATCA	0.453000														84			37		0	0	0.064281	0	0
OR1F1	4992	broad.mit.edu	37	16	3254843	3254843	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:3254843C>T	uc010uwu.2	+	0	597	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGGTCATAATCCTTAGTGAGG	0.493000														46			42		0	0	0.039052	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706440	21706440	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:21706440G>C	uc003cce.3	-	1	511	c.103C>G	c.(103-105)Cca>Gca	p.P35A	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	35						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAAGAAATGGTTTAATATCC	0.517000														36			23		0	0	0.062417	0	0
SCN11A	11280	broad.mit.edu	37	3	38991749	38991749	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:38991749C>T	uc021wvy.1	-	0	304	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	35					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTTTTCTCCTTTTGGATGG	0.512000														122			70		0	0	0.048971	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995021	51995021	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:51995021G>A	uc002pwx.1	-	7	1718	c.1662C>T	c.(1660-1662)gcC>gcT	p.A554A	SIGLEC12_uc002pww.1_Silent_p.A436A|SIGLEC12_uc010eoy.1_Silent_p.A281A	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	554					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGAGGGGGTGGCCAGGGCTG	0.602000														65			20		0	0	0.055883	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523803	24523803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:24523803G>A	uc002wtw.1	+	1	703	c.70G>A	c.(70-72)Ggt>Agt	p.G24S		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	24					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CAAGAGGAATGGTTTAATTAA	0.547000														130			18		0	0	0.033300	0	0
OR10X1	128367	broad.mit.edu	37	1	158549165	158549165	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:158549165C>T	uc010pin.2	-	0	525	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCAGTGCAGTCTCTGTAAGAG	0.443000														35			11		0	0	0.080935	0	0
C22orf29	79680	broad.mit.edu	37	22	19839544	19839544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:19839544G>A	uc002zqg.3	-	1	840	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.P81S|C22orf29_uc002zqi.3_Missense_Mutation_p.P81S|C22orf29_uc021wli.1_Missense_Mutation_p.P81S	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	81										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CCAGCTAGGGGACCCCTTTCT	0.627000														97			47		0	0	0.048971	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635671	141635671	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:141635671C>T	uc003vwv.1	-	4	485	c.288G>A	c.(286-288)agG>agA	p.R96R	CLEC5A_uc011krm.1_Silent_p.R73R|CLEC5A_uc003vww.1_Silent_p.R96R|CLEC5A_uc010lnq.1_Silent_p.R73R|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	96	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGCAAAAGTCCCTGCTTTCAT	0.433000														65			45		0	0	0.045515	0	0
FLG2	388698	broad.mit.edu	37	1	152323637	152323637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:152323637C>T	uc001ezw.4	-	2	6698	c.6625G>A	c.(6625-6627)Gga>Aga	p.G2209R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2209							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGACTGTCCATGTCGAGAT	0.507000														157			132		0	0	0.048971	0	0
FBN2	2201	broad.mit.edu	37	5	127730852	127730852	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:127730852G>A	uc003kuu.3	-	8	1633	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	FBN2_uc003kuv.2_Silent_p.I365I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	398	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.G397A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAATGGTTCCGATGCCCCAGC	0.557000														23			25		0	0	0.083992	0	0
PITPNM3	83394	broad.mit.edu	37	17	6376061	6376061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:6376061C>T	uc002gdd.4	-	10	1496	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	PITPNM3_uc010cln.3_Missense_Mutation_p.E413K|PITPNM3_uc010clm.3_5'UTR|PITPNM3_uc002gdc.4_Missense_Mutation_p.E40K	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	449	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AACTTGGGCTCCAGCAGTGGC	0.652000														14			19		0	0	0.069288	0	0
HMCN1	83872	broad.mit.edu	37	1	186072702	186072702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:186072702C>T	uc001grq.1	+	68	10901	c.10672C>T	c.(10672-10674)Cct>Tct	p.P3558S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3558	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATCCCAGCCCCTAAAATGAC	0.453000														46			40		0	0	0.092188	0	0
CWH43	80157	broad.mit.edu	37	4	48990672	48990672	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:48990672G>A	uc003gyv.3	+	1	404	c.222G>A	c.(220-222)agG>agA	p.R74R	CWH43_uc011bzl.2_Silent_p.R47R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	74					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CCCTGCTGAGGATAATCACTA	0.303000														22			7		0	0	0.029380	0	0
OR9I1	219954	broad.mit.edu	37	11	57886568	57886568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:57886568C>T	uc001nml.1	-	0	349	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TAGGCCATCACTGCCAGCAGA	0.547000														39			22		0	0	0.055883	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539545	133539545	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:133539545C>T	uc002ttp.3	-	13	5213	c.4839G>A	c.(4837-4839)acG>acA	p.T1613T	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1613							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						AGGTGTCTTTCGTTGAACATG	0.438000														56			48		0	0	0.048971	0	0
ABCC9	10060	broad.mit.edu	37	12	21962820	21962820	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:21962820C>T	uc001rfh.3	-	34	4301	c.4281G>A	c.(4279-4281)ctG>ctA	p.L1427L	ABCC9_uc001rfi.1_Silent_p.L1427L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1427	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATATTCTTCAGCTGAGCAA	0.333000														26			38		0	0	0.042209	0	0
CALCRL	10203	broad.mit.edu	37	2	188225374	188225374	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:188225374G>A	uc010frt.3	-	8	1115	c.732C>T	c.(730-732)gcC>gcT	p.A244A	CALCRL_uc002upv.4_Silent_p.A244A	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	244						integral to plasma membrane		p.A244A(2)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTGCAAACACGGCCACCACAA	0.398000														38			10		0	0	0.080935	0	0
PCNXL2	80003	broad.mit.edu	37	1	233363099	233363099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:233363099C>T	uc001hvl.2	-	9	2612	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	PCNXL2_uc009xfu.3_Intron|PCNXL2_uc009xfv.1_Intron|PCNXL2_uc001hvq.1_Missense_Mutation_p.E92K	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	793						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GACGAGGCTTCCAGATCCTGA	0.363000														29			27		0	0	0.034045	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920178	155920179	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:155920178_155920179GG>AA	uc001fmu.2	-	24	3185_3186	c.2930_2931CC>TT	c.(2929-2931)ccc>cTT	p.P977L	ARHGEF2_uc001fmq.2_Missense_Mutation_p.P171L|ARHGEF2_uc001fmr.2_Missense_Mutation_p.P905L|ARHGEF2_uc001fms.2_Missense_Mutation_p.P932L|ARHGEF2_uc001fmt.2_Missense_Mutation_p.P933L	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	933					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCGCTCTTCGGGGCTCCCCAG	0.629000														36			55		0	0	0.004672	0	0
KIF18A	81930	broad.mit.edu	37	11	28090911	28090911	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:28090911C>T	uc001msc.2	-	10	1667	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	495					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCCTCCTTTTCTCCAGGTAGG	0.388000														43			30		0	0	0.034045	0	0
SLC6A9	6536	broad.mit.edu	37	1	44476402	44476402	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:44476402C>T	uc001cll.3	-	2	594	c.402G>A	c.(400-402)ggG>ggA	p.G134G	SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Silent_p.G61G|SLC6A9_uc001clm.3_Silent_p.G80G|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Intron|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Silent_p.G61G|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	134						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGGTACCTCCCCCGTTGCGAT	0.642000														50			15		0	0	0.024245	0	0
PDGFB	5155	broad.mit.edu	37	22	39631876	39631877	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:39631876_39631877CC>TT	uc003axf.3	-	1	1055_1056	c.66_67GG>AA	c.(64-69)ggggac>ggAAac	p.D23N	PDGFB_uc003axe.3_Missense_Mutation_p.D8N	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	23					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GGAATGGGGTCCCCCTGCCGGG	0.594000			T	COL1A1	DFSP									12			12		0	0	0.004672	0	0
KCNU1	157855	broad.mit.edu	37	8	36664931	36664931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:36664931C>T	uc010lvw.3	+	5	706	c.619C>T	c.(619-621)Cct>Tct	p.P207S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	207						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCTAGAACTCCCTCAAATCTT	0.433000														69			48		0	0	0.048971	0	0
MMP25	64386	broad.mit.edu	37	16	3097455	3097455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:3097455C>T	uc002cth.3	+	1	376	c.139C>T	c.(139-141)Cct>Tct	p.P47S	MMP25_uc002cti.1_5'UTR	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	47				P -> R (in Ref. 3; BAB20584).	inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H46H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						GCCACCCCACCCTGCCCAGGC	0.652000														52			42		0	0	0.048971	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55049216	55049216	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:55049216G>A	uc010erm.2	+	1	294	c.282G>A	c.(280-282)caG>caA	p.Q94Q	KIR3DX1_uc010yfa.1_Non-coding_Transcript|KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTCATTCACAGAATCCACCCC	0.478000														45			43		0	0	0.048971	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979896	12979896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:12979896C>T	uc001aup.3	+	3	1171	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	363												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)		ATCATGGATTCCCAACTCAGC	0.597000														73			26		0	0	0.098360	0	0
HSD17B12	51144	broad.mit.edu	37	11	43861552	43861552	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:43861552T>C	uc001mxq.4	+	8	857	c.622T>C	c.(622-624)Ttt>Ctt	p.F208L		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	208					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						CTCCCAGACTTTTGTAGATTT	0.408000														58			35		0	0	0.069456	0	0
C7orf58	79974	broad.mit.edu	37	7	120935617	120935617	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:120935617C>T	uc003vjq.4	+	22	3439	c.2992C>T	c.(2992-2994)Cga>Tga	p.R998*		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	998						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AACAAATTTTCGATCGCCATA	0.358000														62			27		0	0	0.050027	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562897	52562897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52562897G>A	uc003den.3	-	2	512	c.472C>T	c.(472-474)Ctc>Ttc	p.L158F	NT5DC2_uc003dem.3_5'Flank|NT5DC2_uc010hmi.3_Intron|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Missense_Mutation_p.L121F	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	121							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TCATAGTGGAGGCCACGGATG	0.582000														79			59		0	0	0.048971	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735431	140735431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140735431C>T	uc003ljq.2	+	0	664	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R222C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R222H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCGGTTCGCTCTGGCAC	0.547000														16			5		0	0	0.014758	0	0
CACNA1E	777	broad.mit.edu	37	1	181765951	181765951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:181765951C>T	uc009wxt.3	+	46	6551	c.6356C>T	c.(6355-6357)tCc>tTc	p.S2119F	CACNA1E_uc001gow.3_Missense_Mutation_p.S2076F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2057F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2119					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCGTCAATCCAGGTCACCC	0.587000														8			5		0	0	0.014758	0	0
MCF2L2	23101	broad.mit.edu	37	3	183097194	183097194	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:183097194G>A	uc003fli.1	-	2	256	c.166C>T	c.(166-168)Cga>Tga	p.R56*	MCF2L2_uc003flj.1_Nonsense_Mutation_p.R56*|MCF2L2_uc003flp.1_Nonsense_Mutation_p.R91*	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	56	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R56*(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCCTCCCCTCGGCCTCCTGCA	0.498000														24			17		0	0	0.033300	0	0
TFIP11	24144	broad.mit.edu	37	22	26906129	26906129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:26906129G>A	uc003acr.2	-	2	484	c.110C>T	c.(109-111)cCc>cTc	p.P37L	TFIP11_uc003acs.2_Missense_Mutation_p.P37L|TFIP11_uc003act.2_Missense_Mutation_p.P37L	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	37					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGTCGGTTGGGGTTGAACTC	0.567000														29			70		0	0	0.048971	0	0
MUSK	4593	broad.mit.edu	37	9	113563067	113563067	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:113563067C>T	uc022blv.1	+	14	2543	c.2409C>T	c.(2407-2409)taC>taT	p.Y803Y	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.Y714Y|MUSK_uc022blu.1_Silent_p.Y704Y	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	803	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCAGCCCTACTATGGGATGG	0.537000														14			25		0	0	0.076483	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006320	16006320	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:16006320G>A	uc002nbs.1	-	2	389	c.339C>T	c.(337-339)gcC>gcT	p.A113A	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	113					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A113T(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGTACCTGAGGCGTTGATGA	0.607000														124			103		0	0	0.048971	0	0
GPM6A	2823	broad.mit.edu	37	4	176594877	176594877	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:176594877T>C	uc003iuf.3	-	2	1145	c.341A>G	c.(340-342)tAt>tGt	p.Y114C	GPM6A_uc011ckj.2_Missense_Mutation_p.Y107C|GPM6A_uc003iug.3_Missense_Mutation_p.Y114C|GPM6A_uc003iuh.3_Missense_Mutation_p.Y103C	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	114						cell surface|integral to membrane		p.L113I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAAATCCCCATAGAGATCTTT	0.423000														29			19		0	0	0.049695	0	0
OLFML3	56944	broad.mit.edu	37	1	114524200	114524200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:114524200C>T	uc001eer.1	+	2	1139	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	OLFML3_uc001ees.1_Missense_Mutation_p.R324C|OLFML3_uc001eet.1_Missense_Mutation_p.R200C	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	344	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTCGGGCCCGCATCCAGTG	0.597000														79			41		0	0	0.048971	0	0
CDH18	1016	broad.mit.edu	37	5	19520765	19520765	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:19520765C>T	uc003jgd.3	-	10	2046	c.1512_splice	c.e10+1	p.Q504_splice	CDH18_uc011cnm.2_Splice_Site_p.Q504_splice|CDH18_uc003jgc.3_Splice_Site_p.Q504_splice|CDH18_uc021xwu.1_Splice_Site_p.Q504_splice	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	504	Cadherin 5.				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)					AATTAACTTACCTGGCCAGGC	0.383000														15			14		0	0	0.105934	0	0
PAMR1	25891	broad.mit.edu	37	11	35454302	35454302	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:35454302T>C	uc001mwf.3	-	11	1859	c.1816A>G	c.(1816-1818)Act>Gct	p.T606A	PAMR1_uc001mwg.3_Missense_Mutation_p.T589A|PAMR1_uc010rew.2_Missense_Mutation_p.T478A|PAMR1_uc010rex.2_Missense_Mutation_p.T549A	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	589	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGGAAGGAAGTGCTGAGATCC	0.602000														32			26		0	0	0.034045	0	0
TTN	7273	broad.mit.edu	37	2	179395655	179395655	+	Silent	SNP	T	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179395655T>G	uc021vsy.1	-	306	98208	c.97983A>C	c.(97981-97983)acA>acC	p.T32661T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T26356T|TTN_uc021vta.1_Silent_p.T26289T|TTN_uc021vtb.1_Silent_p.T26164T|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33588	Ig-like 144.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTGGTGATGTCACAGCCT	0.478000														139			42		0	0	0.092188	0	0
OR5M11	219487	broad.mit.edu	37	11	56309983	56309983	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:56309983A>G	uc010rjl.2	-	0	751	c.751T>C	c.(751-753)Tat>Cat	p.Y251H	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAGTCCCATAAAACAGGGTG	0.448000														59			38		0	0	0.111260	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273243	145273243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:145273243C>T	uc001emn.4	+	2	467	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.R33C|NOTCH2NL_uc001emo.2_Missense_Mutation_p.R33C|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	33	EGF-like 2.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGAGAAGAACCGCTGCCAGAA	0.532000														404			69		0	0	0.048971	0	0
DNAJC3	5611	broad.mit.edu	37	13	96329538	96329538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:96329538G>A	uc001vmq.3	+	0	146	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	DNAJC3_uc001vmp.3_Missense_Mutation_p.R10Q|BC035106_uc001vmo.4_5'Flank	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	10					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GTGACCAGCCGGCTGGGCTCG	0.692000														48			32		0	0	0.064281	0	0
CRB1	23418	broad.mit.edu	37	1	197316531	197316531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:197316531C>T	uc001gtz.3	+	3	1119	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F	CRB1_uc010poz.2_Missense_Mutation_p.L235F|CRB1_uc001gty.2_Missense_Mutation_p.L304F|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.L304F|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	304	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTGATGCCTCTTTGTTGGTC	0.423000														35			38		0	0	0.098360	0	0
TLR4	7099	broad.mit.edu	37	9	120476865	120476865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:120476865C>T	uc004bjz.3	+	2	2750	c.2459C>T	c.(2458-2460)tCa>tTa	p.S820L	TLR4_uc004bkb.3_Missense_Mutation_p.S620L|TLR4_uc004bka.3_Missense_Mutation_p.S780L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	820					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GATGGTAAATCATGGAATCCA	0.502000														41			75		0	0	0.048971	0	0
NPIPL1	440350	broad.mit.edu	37	16	28354372	28354372	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:28354372G>A	uc010vcr.2	-	6	1520	c.834C>T	c.(832-834)tcC>tcT	p.S278S	NPIPL1_uc010vcq.2_Silent_p.S260S					SubName: Full=Uncharacterized protein;											lung(1)	1						TGAGGCTCAGGGAGTTATCAG	0.507000														12			31		0	0	0.054565	0	0
PKD1	5310	broad.mit.edu	37	16	2159102	2159102	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:2159102C>T	uc002cos.1	-	14	6275	c.6066G>A	c.(6064-6066)tcG>tcA	p.S2022S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.S2022S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2022	PKD 16.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCGCGGCCCGACAGGATGA	0.682000														55			13		0	0	0.020292	0	0
SNORD115-11	100033448	broad.mit.edu	37	15	25468394	25468394	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:25468394G>A	uc001yzx.1	+	1		c.1_splice	c.e1-1		SNORD115-15_uc001yzq.1_Intron|SNRPN_uc001yzw.1_Intron|SNORD115-30_uc001yzy.1_5'Flank					Homo sapiens small nucleolar RNA, C/D box 115-11 (SNORD115-11), small nucleolar RNA.																		CTCTGGGTTGGGTCAATGATG	0.527000														131			114		0	0	0.048971	0	0
ZNF827	152485	broad.mit.edu	37	4	146823351	146823351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:146823351G>A	uc003ikn.3	-	1	1108	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	ZNF827_uc003ikm.3_Missense_Mutation_p.P354S|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	354	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTCCCTTAGGAACTGGGAGT	0.448000														37			16		0	0	0.062417	0	0
MYO3B	140469	broad.mit.edu	37	2	171256824	171256824	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:171256824G>A	uc002ufy.3	+	17	2061	c.1918_splice	c.e17+1	p.A640_splice	MYO3B_uc002ufv.3_Splice_Site_p.A627_splice|MYO3B_uc010fqb.1_Splice_Site_p.A640_splice|MYO3B_uc002ufz.3_Splice_Site_p.A640_splice|MYO3B_uc002ufw.3_Splice_Site|MYO3B_uc002ufx.3_Splice_Site|MYO3B_uc002ugb.3_Splice_Site	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	640	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTGCAAAATGGTAATTATTT	0.388000														64			22		0	0	0.076483	0	0
COL21A1	81578	broad.mit.edu	37	6	56029286	56029286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:56029286C>T	uc003pcs.3	-	8	1538	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.D436N|COL21A1_uc003pcu.1_Missense_Mutation_p.D433N	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	436					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAACCTACATCACTGGGACCA	0.403000														1			3		0	0	0.009096	0	0
ACTN2	88	broad.mit.edu	37	1	236912519	236912519	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:236912519G>A	uc001hyf.2	+	13	1815	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	ACTN2_uc001hyg.2_Silent_p.E329E|ACTN2_uc009xgi.1_Silent_p.E537E|ACTN2_uc010pxu.1_Silent_p.E226E	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	537					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCGCTATGGAGGATCTGCAAG	0.443000														39			36		0	0	0.069456	0	0
OGDH	4967	broad.mit.edu	37	7	44746876	44746876	+	Silent	SNP	A	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:44746876A>T	uc003tln.3	+	20	2844	c.2685A>T	c.(2683-2685)ccA>ccT	p.P895P	OGDH_uc011kbx.2_Silent_p.P891P|OGDH_uc011kby.2_Silent_p.P745P|OGDH_uc003tlp.3_Silent_p.P906P|OGDH_uc011kbz.2_Silent_p.P690P	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	895					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTCAGAACCCAGAAAATGTCA	0.552000														72			33		0	0	0.064281	0	0
FREM2	341640	broad.mit.edu	37	13	39433503	39433503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:39433503G>A	uc001uwv.3	+	13	7604	c.7295G>A	c.(7294-7296)cGg>cAg	p.R2432Q	FREM2_uc001uww.3_Missense_Mutation_p.R518Q	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2432					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTTTGACGCGGTACCGGTGG	0.488000														106			55		0	0	0.048971	0	0
ZNF845	91664	broad.mit.edu	37	19	53856127	53856127	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:53856127C>T	uc010ydv.1	+	3	2316	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	ZNF845_uc010ydw.1_Silent_p.S733S	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	733				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAAGTCATCCCTTACATGCC	0.408000														47			19		0	0	0.049695	0	0
CYLC1	1538	broad.mit.edu	37	X	83129138	83129138	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:83129138G>A	uc004eei.1	+	3	1443	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K	CYLC1_uc004eeh.1_Silent_p.K473K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	474					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.K474*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGACAAAAAGAAGGATGCAA	0.358000														3			10		0	0	0.058154	0	0
REV3L	5980	broad.mit.edu	37	6	111694991	111694991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:111694991C>T	uc003puy.4	-	12	4908	c.4567G>A	c.(4567-4569)Gga>Aga	p.G1523R	REV3L_uc003pux.4_Missense_Mutation_p.G1445R|REV3L_uc003puz.4_Missense_Mutation_p.G1445R	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1523					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCAGACTGTCCTTCACCAAAT	0.373000								DNA polymerases (catalytic subunits)						33			92		0	0	0.048971	0	0
FLNC	2318	broad.mit.edu	37	7	128478355	128478355	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:128478355G>C	uc003vnz.4	+	6	1291	c.1082G>C	c.(1081-1083)cGc>cCc	p.R361P	FLNC_uc003voa.4_Missense_Mutation_p.R361P	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	361					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AACATTGAACGCAGTCCCTTT	0.597000														101			57		0	0	0.048971	0	0
ASL	435	broad.mit.edu	37	7	65551585	65551585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:65551585C>T	uc003tup.3	+	5	695	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F	ASL_uc011kdu.1_Missense_Mutation_p.L154F|ASL_uc003tuo.3_Missense_Mutation_p.L154F|ASL_uc011kdv.1_Missense_Mutation_p.L154F|ASL_uc003tur.3_Missense_Mutation_p.L154F|ASL_uc003tuq.3_Missense_Mutation_p.L154F	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	154					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	ACGTGATGTTCTCTTCCCGGG	0.637000														37			21		0	0	0.083992	0	0
JAM2	58494	broad.mit.edu	37	21	27062217	27062217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:27062217C>T	uc002ylp.1	+	2	718	c.173C>T	c.(172-174)tCc>tTc	p.S58F	JAM2_uc011ace.1_Missense_Mutation_p.S58F|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Intron	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	58	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AAGACTGTTTCCTCCAGATTA	0.398000														112			117		0	0	0.048971	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	Silent	SNP	T	C	C	rs139643347	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:141070111T>C	uc010ncq.3	+	3	1191	c.351T>C	c.(349-351)tcT>tcC	p.S117S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000														49			4		0	0	0.014758	0	0
DOCK3	1795	broad.mit.edu	37	3	51352508	51352508	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:51352508C>T	uc011bds.2	+	31	3374	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1117						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATTCCCATCTTTCATGACA	0.463000														52			25		0	0	0.091800	0	0
SORCS1	114815	broad.mit.edu	37	10	108923956	108923956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:108923956C>T	uc001kyl.3	-	0	511	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	SORCS1_uc021pxw.1_Missense_Mutation_p.R110Q|SORCS1_uc009xxs.3_Missense_Mutation_p.R110Q|SORCS1_uc001kym.3_Missense_Mutation_p.R110Q|SORCS1_uc001kyn.2_Missense_Mutation_p.R110Q|SORCS1_uc001kyo.3_Missense_Mutation_p.R110Q	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	110						integral to membrane	neuropeptide receptor activity|protein binding	p.R110L(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGCTCCGCTCCGTCTCCTCCG	0.706000														8			15		0	0	0.024245	0	0
B4GALT5	9334	broad.mit.edu	37	20	48273211	48273211	+	Silent	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:48273211G>T	uc002xuu.4	-	1	338	c.144C>A	c.(142-144)gcC>gcA	p.A48A		NM_004776	NP_004767	O43286	B4GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA.	48					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GAATGCCTTGGGCTTGCATCA	0.448000														64			117		2.91707e-64	3.00947e-64	0.048971	1	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916423	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:10916422_10916423GA>AT	uc002yip.1	-	19	1591_1592	c.1223_1224TC>AT	c.(1222-1224)ctc>cAT	p.L408H	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Missense_Mutation_p.L390H|TPTE_uc002yir.1_Missense_Mutation_p.L370H|TPTE_uc010gkv.1_Missense_Mutation_p.L270H	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	408					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R408H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCTTGGAGGGAGATTCCAGTT	0.361000														113			17		0	0	0.004672	0	0
TOX2	84969	broad.mit.edu	37	20	42680182	42680182	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:42680182C>T	uc010ggo.3	+	3	688	c.648C>T	c.(646-648)ttC>ttT	p.F216F	TOX2_uc002xle.4_Silent_p.F174F|TOX2_uc010ggp.3_Silent_p.F174F|TOX2_uc002xlf.4_Silent_p.F225F|TOX2_uc010zwk.2_Silent_p.F94F	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AAGTGCATTTCAAGGTATGTG	0.612000														56			12		0	0	0.080935	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146030179	146030179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:146030179C>T	uc011dbv.2	-	6	993	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PPP2R2B_uc010jgm.3_Missense_Mutation_p.E175K|PPP2R2B_uc003loe.3_Missense_Mutation_p.E186K|PPP2R2B_uc003log.4_Missense_Mutation_p.E186K|PPP2R2B_uc003lof.4_Missense_Mutation_p.E186K|PPP2R2B_uc003loi.4_Missense_Mutation_p.E189K|PPP2R2B_uc003loh.4_Missense_Mutation_p.E186K|PPP2R2B_uc003lok.4_Missense_Mutation_p.E175K|PPP2R2B_uc003loj.4_Missense_Mutation_p.E166K|PPP2R2B_uc011dbu.2_Missense_Mutation_p.E192K	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	186					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTAGGTTTCATAGTCGCTG	0.438000														43			8		0	0	0.069234	0	0
CDH23	64072	broad.mit.edu	37	10	73559349	73559349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:73559349G>A	uc001jrx.4	+	49	7706	c.7316G>A	c.(7315-7317)gGa>gAa	p.G2439E	CDH23_uc001jsg.4_Missense_Mutation_p.G202E|CDH23_uc001jsh.4_Missense_Mutation_p.G202E|CDH23_uc001jsi.4_Missense_Mutation_p.G202E	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2442	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TACAGCCTTGGAGATGGAGAG	0.542000														25			39		0	0	0.092188	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433251	204433251	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:204433251G>T	uc001haw.3	-	5	1678	c.1199C>A	c.(1198-1200)aCt>aAt	p.T400N	PIK3C2B_uc010pqv.2_Missense_Mutation_p.T400N|PIK3C2B_uc001hax.1_Missense_Mutation_p.T400N|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	400					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAAGTCTACAGTGGAGGAACC	0.542000														98			36		5.04308e-16	5.17938e-16	0.086207	1	0
C5orf25	375484	broad.mit.edu	37	5	175763763	175763763	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:175763763T>A	uc003mds.4	+	9	2562	c.2155T>A	c.(2155-2157)Tgc>Agc	p.C719S	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Missense_Mutation_p.C304S|C5orf25_uc003mdv.3_Missense_Mutation_p.C180S			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	719												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CCTTCTGCGCTGCAAAGTGTT	0.473000														126			44		0	0	0.048971	0	0
ADAM33	80332	broad.mit.edu	37	20	3652925	3652925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:3652925G>A	uc002wit.3	-	13	1540	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.P485S|ADAM33_uc002wis.3_Missense_Mutation_p.P7S|ADAM33_uc002wiu.3_Missense_Mutation_p.P485S|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.	485	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						CAAAACTCAGGGAGGTCACAG	0.662000														133			50		0	0	0.048971	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738700	8738700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:8738700C>T	uc002glq.1	-	7	775	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	179					platelet activation	cytosol											TGCGCCTGGGCCGCCTCGATC	0.652000														9			17		0	0	0.038395	0	0
MYH4	4622	broad.mit.edu	37	17	10369674	10369674	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:10369674G>A	uc002gmn.3	-	3	375	c.264C>T	c.(262-264)atC>atT	p.I88I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	88	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			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						CCATGTCCTCGATCTTGTCAT	0.438000														36			50		0	0	0.048971	0	0
SZT2	23334	broad.mit.edu	37	1	43855557	43855557	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:43855557C>T	uc001cjk.2	+	1	1	c.-2609_splice	c.e1-1		MED8_uc001cje.1_5'Flank|MED8_uc001cjg.4_5'Flank|MED8_uc001cjf.4_5'Flank|SZT2_uc001cjh.3_Splice_Site|SZT2_uc001cji.1_Splice_Site|SZT2_uc009vws.1_Splice_Site	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCGGTTCCTGCTGGGTG	0.627000														22			19		0	0	0.038395	0	0
OR10C1	442194	broad.mit.edu	37	6	29407862	29407862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:29407862G>A	uc011dlp.2	+	0	147	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G24N(2)|p.G24S(2)|p.G24D(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGACCTCCAGGGCTTGCTCTT	0.542000														20			99		0	0	0.048971	0	0
POTEA	340441	broad.mit.edu	37	8	43157211	43157211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:43157211G>A	uc003xpz.1	+	4	834	c.791G>A	c.(790-792)gGa>gAa	p.G264E	POTEA_uc003xqa.1_Intron	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	264										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGTATTTGGACAAACTGCT	0.308000														54			37		0	0	0.074837	0	0
RAG2	5897	broad.mit.edu	37	11	36615100	36615100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:36615100G>A	uc021qge.1	-	0	619	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	RAG2_uc021qgc.1_Missense_Mutation_p.H207Y|RAG2_uc021qgd.1_Missense_Mutation_p.H207Y|RAG2_uc001mwv.4_Missense_Mutation_p.H207Y|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	207					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATAGAGACATGAAAAGATAGC	0.423000									Familial Hemophagocytic Lymphohistiocytosis					66			37		0	0	0.080422	0	0
LRRC6	23639	broad.mit.edu	37	8	133645203	133645203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:133645203C>T	uc003ytk.3	-	4	510	c.436G>A	c.(436-438)Gat>Aat	p.D146N	LRRC6_uc022bbp.1_Missense_Mutation_p.D146N|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	146	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTTTACCATCCAACCACTTA	0.343000														31			22		0	0	0.055883	0	0
PEX5	5830	broad.mit.edu	37	12	7362645	7362646	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:7362645_7362646CC>TT	uc009zfu.2	+	16	2326_2327	c.1746_1747CC>TT	c.(1744-1749)gccctg>gcTTtg	p.582_583AL>AL	PEX5_uc001qsw.3_Silent_p.582_583AL>AL|PEX5_uc010sgc.2_Silent_p.597_598AL>AL|PEX5_uc001qsu.3_Silent_p.545_546AL>AL|PEX5_uc010sgd.2_Silent_p.603_604AL>AL|PEX5_uc001qsv.3_Silent_p.574_575AL>AL	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	582					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						TTCTGGAGGCCCTGAACATGCA	0.554000														32			6		0	0	0.004672	0	0
NDST4	64579	broad.mit.edu	37	4	115856476	115856476	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:115856476C>T	uc003ibu.3	-	5	2101	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	474	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACCCACAAGTCTGTCGAGGGA	0.398000														40			19		0	0	0.055883	0	0
FAM55C	91775	broad.mit.edu	37	3	101540295	101540295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:101540295C>T	uc003dvn.3	+	7	1814	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	FAM55C_uc010hpn.3_Missense_Mutation_p.L393F	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	393						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GGGTCCCTTCCTTGCAGTGGA	0.453000														40			26		0	0	0.034045	0	0
KIF21B	23046	broad.mit.edu	37	1	200948729	200948729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:200948729G>A	uc001gvs.2	-	29	4411	c.4094C>T	c.(4093-4095)tCc>tTc	p.S1365F	KIF21B_uc009wzl.2_Missense_Mutation_p.S1365F|KIF21B_uc001gvr.2_Missense_Mutation_p.S1352F|KIF21B_uc010ppn.2_Missense_Mutation_p.S1352F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1365					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGGACACGGAGAACACAAG	0.582000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		98			90		0	0	0.048971	0	0
ENPP3	5169	broad.mit.edu	37	6	131992443	131992443	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:131992443C>T	uc003qcu.4	+	7	965	c.618C>T	c.(616-618)ttC>ttT	p.F206F	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Silent_p.F172F|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Silent_p.F206F|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	206	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCAAAACCTTCCCAAATCATT	0.408000														23			25		0	0	0.108266	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955361	18955361	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:18955361C>T	uc001mpg.3	-	1	1190	c.972_splice	c.e1+1			NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.						acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAGGCTCTTCCTCACTGCTC	0.547000														121			31		0	0	0.045705	0	0
CHD5	26038	broad.mit.edu	37	1	6203900	6203900	+	Missense_Mutation	SNP	C	T	T	rs142551574	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:6203900C>T	uc001amb.2	-	12	2137	c.2026G>A	c.(2026-2028)Gac>Aac	p.D676N	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	676					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATGGGCGTGTCCGGCGGCTTC	0.627000														60			50		0	0	0.048971	0	0
CNGB3	54714	broad.mit.edu	37	8	87679166	87679166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:87679166C>T	uc003ydx.3	-	5	887	c.839G>A	c.(838-840)gGa>gAa	p.G280E	CNGB3_uc010maj.3_Missense_Mutation_p.G142E	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	280					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TATGTCTCCTCCTCTTACAAA	0.383000														27			18		0	0	0.038395	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998397	8998397	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:8998397G>A	uc022arp.1	-	0	765	c.765C>T	c.(763-765)tcC>tcT	p.S255S	PPP1R3B_uc003wsn.4_Silent_p.S255S|PPP1R3B_uc003wso.4_Silent_p.S255S	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	255					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACTGGTCAAAGGATATTCCCA	0.502000														51			32		0	0	0.054565	0	0
IPO8	10526	broad.mit.edu	37	12	30790082	30790082	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:30790082G>A	uc001rjd.3	-	21	2877	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	IPO8_uc010sjt.2_Silent_p.I638I|IPO8_uc001rje.1_Silent_p.I332I	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	843					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATTCCAAAAGGATACTCAGTC	0.398000														26			38		0	0	0.111260	0	0
CATSPER2	117155	broad.mit.edu	37	15	43940180	43940180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:43940180G>A	uc001zsh.3	-	1	295	c.80C>T	c.(79-81)tCt>tTt	p.S27F	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Missense_Mutation_p.S27F|CATSPER2_uc001zsj.3_Missense_Mutation_p.S27F|CATSPER2_uc001zsk.3_Missense_Mutation_p.S27F|CATSPER2_uc001zsl.1_Intron	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTCAATGAGAGAGAAAGTATC	0.463000														210			64		0	0	0.048971	0	0
CREBBP	1387	broad.mit.edu	37	16	3860727	3860727	+	Silent	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:3860727T>A	uc002cvv.3	-	2	1056	c.852A>T	c.(850-852)ggA>ggT	p.G284G	CREBBP_uc002cvw.3_Silent_p.G284G	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	284	Interaction with SRCAP.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGCTGCCCTCCAGCTTGAC	0.478000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							38			31		0	0	0.045705	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828707	144828707	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:144828707G>T	uc009wig.1	+	21	2940	c.2746G>T	c.(2746-2748)Gtg>Ttg	p.V916L	NBPF10_uc010oxo.1_Missense_Mutation_p.V843L|NBPF10_uc010oxn.1_Missense_Mutation_p.V816L|NBPF10_uc021oth.1_Missense_Mutation_p.V578L|NBPF10_uc021otj.1_Missense_Mutation_p.V945L|NBPF10_uc021oto.1_Missense_Mutation_p.V733L|NBPF10_uc021otr.1_Missense_Mutation_p.V245L|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.V489L|NBPF10_uc010oyd.1_Missense_Mutation_p.V245L|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.	918										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)		CGCCCTTTACGTGGACAATAG	0.443000														298			9		2.20474e-14	2.25417e-14	0.064281	1	0
IQCB1	9657	broad.mit.edu	37	3	121489364	121489364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:121489364G>A	uc010hre.1	-	14	1840	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Missense_Mutation_p.S409F	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	542					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CACAGGCCTGGATCTACTTAG	0.507000														142			112		0	0	0.048971	0	0
FAM104A	84923	broad.mit.edu	37	17	71223381	71223381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:71223381C>T	uc002jjj.4	-	1	332	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	FAM104A_uc002jji.4_Missense_Mutation_p.E82K	NM_001098832	NP_001092302	Q969W3	F104A_HUMAN	Homo sapiens family with sequence similarity 104, member A (FAM104A), transcript variant 1, mRNA.	82										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGTCTTCTTCGTTGCCATTC	0.423000														101			59		0	0	0.048971	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092693	151092693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:151092693C>T	uc022cgv.1	+	0	557	c.557C>T	c.(556-558)tCc>tTc	p.S186F	MAGEA4_uc004fez.3_Missense_Mutation_p.S186F|MAGEA4_uc004ffa.3_Missense_Mutation_p.S186F|MAGEA4_uc004ffb.3_Missense_Mutation_p.S186F|MAGEA4_uc022cgu.1_Missense_Mutation_p.S214F|MAGEA4_uc004ffc.3_Missense_Mutation_p.S186F|MAGEA4_uc004ffd.3_Missense_Mutation_p.S186F	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	186	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGCCTTTCCTATGATGGC	0.547000														27			86		0	0	0.048971	0	0
CCDC90A	63933	broad.mit.edu	37	6	13802488	13802488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:13802488G>A	uc003nbc.2	-	2	757	c.626C>T	c.(625-627)aCc>aTc	p.T209I	CCDC90A_uc010jpf.3_Non-coding_Transcript	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	Homo sapiens coiled-coil domain containing 90A (CCDC90A), mRNA.	209						integral to membrane|mitochondrion				cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				CTGCATCTTGGTGACCATATC	0.398000														71			27		0	0	0.041601	0	0
OR10K2	391107	broad.mit.edu	37	1	158390112	158390112	+	Missense_Mutation	SNP	G	T	T	rs149783516	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:158390112G>T	uc010pii.2	-	0	545	c.545C>A	c.(544-546)gCt>gAt	p.A182D		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAGGACAGGAGCAATGTCACA	0.443000														24			31		1.99505e-19	2.05592e-19	0.050027	1	0
AKR1D1	6718	broad.mit.edu	37	7	137792208	137792208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:137792208C>T	uc003vtz.3	+	6	824	c.737C>T	c.(736-738)tCa>tTa	p.S246L	AKR1D1_uc011kqf.2_Missense_Mutation_p.S205L|AKR1D1_uc011kqe.1_Missense_Mutation_p.S246L|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	246					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTTCTAAACTCATTGGGGAAA	0.368000														51			26		0	0	0.108266	0	0
NRXN3	9369	broad.mit.edu	37	14	79181308	79181308	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:79181308C>T	uc001xun.3	+	4	1242	c.751C>T	c.(751-753)Cga>Tga	p.R251*	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Nonsense_Mutation_p.R385*	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAGAACATTCGACAGCTGGC	0.547000														10			21		0	0	0.062417	0	0
CD84	8832	broad.mit.edu	37	1	160549207	160549207	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:160549207C>T	uc001fwh.4	-	0	100	c.21G>A	c.(19-21)tgG>tgA	p.W7*	CD84_uc001fwf.4_Nonsense_Mutation_p.W7*|CD84_uc009wtn.3_Nonsense_Mutation_p.W7*|CD84_uc001fwi.4_Nonsense_Mutation_p.W7*|CD84_uc001fwg.4_Nonsense_Mutation_p.W7*|CD84_uc001fwj.3_Nonsense_Mutation_p.W7*|CD84_uc001fwk.3_Nonsense_Mutation_p.W7*	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	7					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGAGCAAGATCCATAGGTGGT	0.453000														59			43		0	0	0.048971	0	0
ZNF34	80778	broad.mit.edu	37	8	145999521	145999521	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:145999521C>T	uc003zdy.4	-	5	915	c.813G>A	c.(811-813)cgG>cgA	p.R271R	ZNF34_uc010mgb.3_Silent_p.R168R|ZNF34_uc003zdx.4_Silent_p.R250R	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R271L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CAGTGTGAAGCCGCTGATGCT	0.448000														52			41		0	0	0.039052	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124989	12124989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:12124989C>T	uc003nac.3	+	3	5140	c.4961C>T	c.(4960-4962)tCc>tTc	p.S1654F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1654					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACACTCACATCCCTGCCACAA	0.478000														108			42		0	0	0.048971	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129663458	129663458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:129663458G>A	uc003vpi.3	-	7	1153	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ZC3HC1_uc010lma.3_Intron	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	376					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GTCACTGGGCGAGTTCTGGTG	0.617000														98			52		0	0	0.048971	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:59483414G>A	uc002lih.1	-	1	695	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RNF152_uc021ula.1_Missense_Mutation_p.P95S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000														17			31		0	0	0.041601	0	0
CACNG3	10368	broad.mit.edu	37	16	24373176	24373177	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:24373176_24373177CC>TT	uc002dmf.3	+	3	2142_2143	c.940_941CC>TT	c.(940-942)ccc>TTc	p.P314F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	314					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P314H(2)|p.P314P(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCGCACCACGCCCGTCTGAACT	0.554000														34			18		0	0	0.004672	0	0
PLCE1	51196	broad.mit.edu	37	10	95931128	95931128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:95931128G>A	uc001kjk.3	+	3	2318	c.1684G>A	c.(1684-1686)Gac>Aac	p.D562N	PLCE1_uc010qnx.2_Missense_Mutation_p.D562N|PLCE1_uc001kjm.3_Missense_Mutation_p.D254N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	562	Ras-GEF.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTAACACGGGACTTGGGCAC	0.532000														36			53		0	0	0.048971	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495408	20495408	+	RNA	SNP	G	A	A	rs2954587	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:20495408G>A	uc001ytf.1	+	4		c.611G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCTGTGTGAGGAAAATGAATC	0.388000														81			19		0	0	0.043863	0	0
TTN	7273	broad.mit.edu	37	2	179554063	179554063	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179554063C>T	uc021vsy.1	-	120	28458	c.28233G>A	c.(28231-28233)agG>agA	p.R9411R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R6072R|TTN_uc010fre.1_Silent_p.R522R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10338	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAGGTTTCCTTTCTTCAG	0.363000														44			9		0	0	0.047766	0	0
LIPH	200879	broad.mit.edu	37	3	185226631	185226631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:185226631C>T	uc003fpm.3	-	9	1413	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	LIPH_uc010hyh.3_Missense_Mutation_p.E401K	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	435					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCAACGTTTTCCATCAGGACA	0.373000														202			136		0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179458328	179458328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179458328C>T	uc021vsy.1	-	246	51220	c.50995G>A	c.(50995-50997)Gtg>Atg	p.V16999M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10694M|TTN_uc021vta.1_Missense_Mutation_p.V10627M|TTN_uc021vtb.1_Missense_Mutation_p.V10502M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17926	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCAGACACCAGAGGATCA	0.299000														24			14		0	0	0.024245	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724953	7724953	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:7724953C>T	uc001aoi.3	+	8	2553	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S782S(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTTCATCTCCGTGGAGGGGG	0.637000			T	WWTR1	epitheliod hemangioendothelioma									262			132		0	0	0.048971	0	0
MUC17	140453	broad.mit.edu	37	7	100678451	100678451	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:100678451A>C	uc003uxp.1	+	2	3807	c.3754A>C	c.(3754-3756)Act>Cct	p.T1252P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1252	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTGTGACCACTTCTGCTGA	0.493000														206			150		0	0	0.048971	0	0
COL9A1	1297	broad.mit.edu	37	6	70926736	70926736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:70926736C>T	uc003pfg.4	-	37	2789	c.2630G>A	c.(2629-2631)cGa>cAa	p.R877Q	COL9A1_uc003pfe.4_Missense_Mutation_p.R426Q|COL9A1_uc003pff.4_Missense_Mutation_p.R634Q	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	877	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGGGGGCCTCGCTCACCGTC	0.607000														20			33		0	0	0.059317	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644012	37644012	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:37644012G>A	uc002ofo.1	-	4	1020	c.789C>T	c.(787-789)atC>atT	p.I263I	ZNF585A_uc002ofm.1_Silent_p.I208I|ZNF585A_uc002ofn.1_Silent_p.I208I	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGCCTGTATGGATTTTCTGAT	0.428000														73			84		0	0	0.048971	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564131	46564131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:46564131G>A	uc001ncv.2	-	7	1480	c.1166C>T	c.(1165-1167)aCt>aTt	p.T389I	AMBRA1_uc010rgt.1_Missense_Mutation_p.T45I|AMBRA1_uc009ylc.1_Missense_Mutation_p.T479I|AMBRA1_uc001ncu.1_Missense_Mutation_p.T389I|AMBRA1_uc010rgu.1_Missense_Mutation_p.T479I|AMBRA1_uc001ncw.2_Missense_Mutation_p.T389I|AMBRA1_uc001ncx.2_Missense_Mutation_p.T479I	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	452					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATCTGACTCAGTTGCCAACCC	0.547000														74			49		0	0	0.048971	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807813	15807813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:15807813C>T	uc002nbl.3	+	12	1612	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CACACTGAGCCCCGCAGGAAG	0.612000														72			13		0	0	0.020292	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842040	8842040	+	Missense_Mutation	SNP	C	T	T	rs140873536		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:8842040C>T	uc010xkg.2	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCGCCACCTCCTACGGCCAC	0.592000														42			35		0	0	0.074837	0	0
PGM1	5236	broad.mit.edu	37	1	64095185	64095185	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:64095185C>T	uc010ooz.2	+	1	635	c.390C>T	c.(388-390)atC>atT	p.I130I	PGM1_uc001dbh.3_Silent_p.I112I|PGM1_uc010ooy.2_5'UTR	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	112					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGGTGGGATCATTCTGACAG	0.458000														114			126		0	0	0.048971	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985300	42985300	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:42985300C>T	uc003otl.3	+	2	503	c.198C>T	c.(196-198)atC>atT	p.I66I	KLHDC3_uc003otn.3_5'UTR|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Silent_p.I51I|KLHDC3_uc003oto.3_Intron	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	66					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTCTGCCATCCGTGGGCAAG	0.607000														11			76		0	0	0.048971	0	0
LAMA3	3909	broad.mit.edu	37	18	21519301	21519301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:21519301C>T	uc002kuq.3	+	67	9063	c.8977C>T	c.(8977-8979)Ccc>Tcc	p.P2993S	LAMA3_uc002kur.3_Missense_Mutation_p.P2937S|LAMA3_uc002kus.4_Missense_Mutation_p.P1384S|LAMA3_uc002kut.4_Missense_Mutation_p.P1328S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2993	Laminin G-like 4.				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)	TGGGGACATTCCCACCAGCCA	0.557000														64			82		0	0	0.048971	0	0
SPINT2	10653	broad.mit.edu	37	19	38779791	38779791	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:38779791G>A	uc002ohr.2	+	3	786	c.351G>A	c.(349-351)caG>caA	p.Q117Q	SPINT2_uc002ohs.2_Silent_p.Q60Q	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	117					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAGAAGGCAGGATTCTGAAG	0.557000														70			23		0	0	0.091800	0	0
EPHB3	2049	broad.mit.edu	37	3	184294969	184294969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:184294969C>T	uc003foz.3	+	4	1789	c.1352C>T	c.(1351-1353)gCt>gTt	p.A451V		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	451						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACAAACCAGGCTGGTGAGGAG	0.617000														15			7		0	0	0.029380	0	0
KLHL8	57563	broad.mit.edu	37	4	88084715	88084715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:88084715G>A	uc011cdb.1	-	9	2204	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	KLHL8_uc003hql.1_Nonsense_Mutation_p.R607*|KLHL8_uc003hqm.1_Nonsense_Mutation_p.R531*|KLHL8_uc003hqn.1_Nonsense_Mutation_p.R424*|KLHL8_uc010ikj.1_Nonsense_Mutation_p.R256*	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	607								p.R607*(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCTACATCTCGAATTTGGCTA	0.428000														78			53		0	0	0.048971	0	0
GPR45	11250	broad.mit.edu	37	2	105859346	105859346	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:105859346A>T	uc002tco.1	+	0	1147	c.1031A>T	c.(1030-1032)cAa>cTa	p.Q344L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	344						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CAGACCTTCCAAATCCTCCCC	0.542000														74			12		0	0	0.105934	0	0
LRP4	4038	broad.mit.edu	37	11	46914568	46914568	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:46914568C>T	uc001ndn.4	-	12	1896	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	551					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCTCCAGGTTCTGCCACAGCA	0.577000														22			11		0	0	0.028581	0	0
EPHA7	2045	broad.mit.edu	37	6	93964398	93964398	+	Silent	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:93964398T>A	uc003poe.3	-	13	2740	c.2499A>T	c.(2497-2499)ggA>ggT	p.G833G	EPHA7_uc003pof.3_Silent_p.G828G|EPHA7_uc011eac.2_Silent_p.G829G	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	833	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAGGTCTTTCTCCATAAGACA	0.398000														9			30		0	0	0.050027	0	0
BANF2	140836	broad.mit.edu	37	20	17705686	17705686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:17705686C>T	uc010zrs.1	+	1	51	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	BANF2_uc002wqa.2_Missense_Mutation_p.P6S|BANF2_uc002wpz.2_Missense_Mutation_p.P6S	NM_001159495	NP_848572	Q9H503	BAFL_HUMAN	Homo sapiens barrier to autointegration factor 2 (BANF2), transcript variant 3, mRNA.	6						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CAACATGTCTCCCAGGCTGAG	0.552000														112			15		0	0	0.033300	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348500	140348500	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140348500T>A	uc003lii.3	+	0	2754	c.2149T>A	c.(2149-2151)Ttt>Att	p.F717I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.F717I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	717					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGTGTCTTTTATATTTCT	0.428000														59			16		0	0	0.024245	0	0
FSIP2	401024	broad.mit.edu	37	2	186672991	186672991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:186672991G>A	uc002upl.3	+	16	19225	c.19225G>A	c.(19225-19227)Gaa>Aaa	p.E6409K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAAATTATGGAAAAAGTGAT	0.328000														28			11		0	0	0.069234	0	0
COL5A1	1289	broad.mit.edu	37	9	137658318	137658318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:137658318G>A	uc004cfe.3	+	21	2489	c.2107G>A	c.(2107-2109)Ggc>Agc	p.G703S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	703	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.D702D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTATGGACGGCCAGCCGGG	0.542000														33			3		0	0	0.009096	0	0
MICALL2	79778	broad.mit.edu	37	7	1478590	1478590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:1478590G>A	uc003skj.4	-	9	2155	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S	MICALL2_uc003ski.4_Missense_Mutation_p.P157S	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	670						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGCTGGCAGGGACGGCCAGT	0.687000														38			19		0	0	0.083992	0	0
TLR7	51284	broad.mit.edu	37	X	12906151	12906151	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:12906151C>T	uc004cvc.3	+	2	2663	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	842					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TAACCTGATTCTGTTCTCACT	0.453000														27			81		0	0	0.048971	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7523559	7523559	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:7523559C>T	uc002mgi.3	+	8	2032	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	ARHGEF18_uc010xjm.1_Silent_p.I435I|ARHGEF18_uc002mgh.3_Silent_p.I435I|ARHGEF18_uc002mgj.1_Silent_p.I236I	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	593	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TGGCCCACATCCAAAGGGCTG	0.582000														23			8		0	0	0.047766	0	0
EP400	57634	broad.mit.edu	37	12	132445520	132445520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:132445520C>T	uc001ujn.3	+	1	508	c.356C>T	c.(355-357)tCa>tTa	p.S119L	EP400_uc021rgq.1_Missense_Mutation_p.S119L|EP400_uc001ujm.3_Missense_Mutation_p.S119L|EP400_uc001ujj.2_Missense_Mutation_p.S119L|EP400_uc001ujk.3_Missense_Mutation_p.S119L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	119					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGGTCTCCATCATACATTCAG	0.647000														12			8		0	0	0.058154	0	0
TOX	9760	broad.mit.edu	37	8	59852082	59852082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:59852082C>T	uc003xtw.1	-	2	411	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	64						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCTTCACTTTCCAGGCTTGGA	0.443000														64			31		0	0	0.054565	0	0
EVPL	2125	broad.mit.edu	37	17	74003914	74003914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:74003914G>A	uc010wss.1	-	21	5666	c.5438C>T	c.(5437-5439)tCc>tTc	p.S1813F	EVPL_uc002jqi.2_Missense_Mutation_p.S1791F|EVPL_uc010wst.1_Missense_Mutation_p.S1261F	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1791	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGAGCCGATGGAGAGTGAGGA	0.597000														43			35		0	0	0.059317	0	0
MICALL1	85377	broad.mit.edu	37	22	38313723	38313723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:38313723C>T	uc003aui.3	+	3	622	c.347C>T	c.(346-348)tCg>tTg	p.S116L		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	116						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCTGGTGTCTCGCCACCCAGA	0.587000														25			26		0	0	0.034045	0	0
AGBL1	123624	broad.mit.edu	37	15	86686988	86686988	+	Silent	SNP	G	A	A	rs60485756		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:86686988G>A	uc002blz.1	+	1	116	c.36G>A	c.(34-36)caG>caA	p.Q12Q		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	12					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTCTTCTGCAGACCCTGGTAG	0.537000														80			21		0	0	0.049695	0	0
C10orf82	143379	broad.mit.edu	37	10	118425131	118425131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:118425131G>A	uc001lcr.3	-	2	317	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	C10orf82_uc001lcs.1_Missense_Mutation_p.P88S	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	Homo sapiens chromosome 10 open reading frame 82 (C10orf82), mRNA.	88										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		AGGATCAGGGGGTGGTACTGC	0.602000														33			17		0	0	0.055883	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100155	121100155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:121100155C>T	uc003eec.4	+	22	2575	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	STXBP5L_uc011bji.2_Missense_Mutation_p.S788F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	812					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGAGAAAATTCCTATAATCGT	0.284000														83			42		0	0	0.039052	0	0
CAMP	820	broad.mit.edu	37	3	48266876	48266876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:48266876G>A	uc003csj.2	+	3	640	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_004345	NP_004336	P49913	CAMP_HUMAN	Homo sapiens cathelicidin antimicrobial peptide (CAMP), mRNA.	159					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGAATCAAGGATTTTTTGCG	0.448000														123			63		0	0	0.048971	0	0
NPHS1	4868	broad.mit.edu	37	19	36333030	36333030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:36333030G>A	uc002oby.3	-	18	2815	c.2659C>T	c.(2659-2661)Ccc>Tcc	p.P887S	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	887	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)			GCTCACCTGGGATCTTGGAGA	0.607000														20			13		0	0	0.105934	0	0
SPARCL1	8404	broad.mit.edu	37	4	88414772	88414772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:88414772C>T	uc010ikm.3	-	4	1752	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	SPARCL1_uc011cdc.2_Missense_Mutation_p.E269K|SPARCL1_uc003hqs.4_Missense_Mutation_p.E394K|SPARCL1_uc011cdd.2_Missense_Mutation_p.E269K	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	394					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCTATATTTTCATTTTCATGT	0.413000														42			19		0	0	0.043863	0	0
TMC2	117532	broad.mit.edu	37	20	2591212	2591212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:2591212C>T	uc002wgf.1	+	11	1576	c.1561C>T	c.(1561-1563)Ctc>Ttc	p.L521F	TMC2_uc002wgg.1_Missense_Mutation_p.L505F|TMC2_uc010zpw.1_Missense_Mutation_p.L353F|TMC2_uc010zpx.1_Missense_Mutation_p.L352F	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	521						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTACACATTTCTCTTGGCCCT	0.502000														59			15		0	0	0.020292	0	0
RETSAT	54884	broad.mit.edu	37	2	85576630	85576630	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:85576630G>T	uc002spd.3	-	4	1065	c.874C>A	c.(874-876)Ccc>Acc	p.P292T	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.P231T	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	292					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCCCCTCGGGGATAAAAGCCT	0.572000														50			33		7.11191e-15	7.28771e-15	0.054565	1	0
ZNF600	162966	broad.mit.edu	37	19	53270003	53270003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:53270003C>T	uc002qab.4	-	2	1292	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	ZNF600_uc021uyz.1_Missense_Mutation_p.D336N	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAAGCTGTGTCACAAACCTTA	0.388000														48			14		0	0	0.105934	0	0
FMNL2	114793	broad.mit.edu	37	2	153405583	153405583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:153405583G>A	uc002tye.3	+	3	698	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	111	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAGAGAACTGGAAATTTCTTT	0.343000														15			8		0	0	0.047766	0	0
KCND2	3751	broad.mit.edu	37	7	120385961	120385961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:120385961G>A	uc003vjj.1	+	4	2560	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	532					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGCTGTTCACGACGACACAAA	0.443000														71			32		0	0	0.092188	0	0
DGCR2	9993	broad.mit.edu	37	22	19055731	19055731	+	Silent	SNP	G	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:19055731G>C	uc002zoq.1	-	2	458	c.210C>G	c.(208-210)acC>acG	p.T70T	DGCR2_uc021wkx.1_Silent_p.T70T|DGCR2_uc021wky.1_Silent_p.T29T|DGCR2_uc021wkz.1_5'UTR|DGCR2_uc011agr.1_Silent_p.T29T|DGCR2_uc002zor.1_5'UTR	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	70					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCACCTCCCCGGTCACTTCTG	0.637000														18			20		0	0	0.062417	0	0
OR52K2	119774	broad.mit.edu	37	11	4470892	4470892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4470892C>T	uc001lyz.2	+	0	368	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCTTCACTCCTTCTCCATC	0.532000														48			27		0	0	0.099896	0	0
EPHX4	253152	broad.mit.edu	37	1	92495805	92495805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:92495805G>A	uc001don.2	+	0	273	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	57						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GCCCGCCCGGGAGCACCCTCC	0.711000														17			7		0	0	0.029380	0	0
LOC649330	649330	broad.mit.edu	37	1	12907791	12907791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:12907791C>T	uc010obf.2	-	1	578	c.352G>A	c.(352-354)Gat>Aat	p.D118N	LOC649330_uc009vno.2_Missense_Mutation_p.D118N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	118							nucleic acid binding|nucleotide binding										TCATAATAATCCCGTTGAAAG	0.507000														51			46		0	0	0.042209	0	0
BC070322	0	broad.mit.edu	37	9	69634798	69634798	+	RNA	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:69634798G>A	uc004afu.3	-	2		c.273C>T								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		CCTGGTCCACGATGGCGAAGA	0.597000														17			3		0	0	0.004672	0	0
GAS2	2620	broad.mit.edu	37	11	22777461	22777461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:22777461G>A	uc009yie.3	+	6	991	c.685G>A	c.(685-687)Gga>Aga	p.G229R	GAS2_uc001mqm.3_Missense_Mutation_p.G229R|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.G229R	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	229	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GCTCTCCCAAGGAAGATACCG	0.408000														30			15		0	0	0.033300	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50404023	50404023	+	Missense_Mutation	SNP	C	T	T	rs140562117		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:50404023C>T	uc003daq.3	-	30	2682	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	CACNA2D2_uc003dap.3_Missense_Mutation_p.E875K	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	882					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TTGTTAACCTCGCAGTCCATC	0.582000														35			23		0	0	0.108266	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548008	47548008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:47548008C>T	uc001cqu.1	+	3	370	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	123						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCATAAGGTCGAGGACTTGT	0.448000														60			6		0	0	0.029380	0	0
CD1E	913	broad.mit.edu	37	1	158325195	158325195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:158325195C>T	uc001fse.3	+	2	754	c.461C>T	c.(460-462)tCc>tTc	p.S154F	CD1E_uc010pid.2_Missense_Mutation_p.S152F|CD1E_uc010pie.2_Missense_Mutation_p.S55F|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.S154F|CD1E_uc001fsf.3_Missense_Mutation_p.S154F|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.S55F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.S154F|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|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.	154					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				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)					CAAGGAATTTCCTGGGAGCCA	0.448000														100			21		0	0	0.049695	0	0
KIF1A	547	broad.mit.edu	37	2	241713623	241713623	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:241713623G>A	uc010fzk.3	-	11	1261	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y	KIF1A_uc002vzy.3_Silent_p.Y338Y|KIF1A_uc002vzz.2_Silent_p.Y338Y	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	338	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGTCTCATCGTAGTTGATGT	0.572000														30			12		0	0	0.020292	0	0
OR51A2	401667	broad.mit.edu	37	11	4976244	4976244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4976244C>T	uc010qyt.2	-	0	700	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAAGCTCCTCCTTTTTGGAT	0.478000														5			25		0	0	0.108266	0	0
PLCL1	5334	broad.mit.edu	37	2	198949006	198949006	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:198949006G>A	uc010fsp.3	+	1	1163	c.765G>A	c.(763-765)ggG>ggA	p.G255G	PLCL1_uc002uuv.4_Silent_p.G176G	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	255					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATGTTGATGGGAATGGGATTA	0.413000														71			19		0	0	0.049695	0	0
VSIG10	54621	broad.mit.edu	37	12	118533381	118533381	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:118533381G>A	uc001tws.3	-	1	652	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	106	Ig-like C2-type 1.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCACATTCAGGATCTCCTGGC	0.602000														74			24		0	0	0.099896	0	0
RGS18	64407	broad.mit.edu	37	1	192153442	192153442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:192153442C>T	uc001gsg.3	+	4	642	c.466C>T	c.(466-468)Cac>Tac	p.H156Y		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	156	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTTGATTTTCACACAAAAGA	0.363000														32			25		0	0	0.083992	0	0
HEATR5A	25938	broad.mit.edu	37	14	31762600	31762600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:31762600C>T	uc001wrf.4	-	35	6237	c.6052G>A	c.(6052-6054)Gaa>Aaa	p.E2018K	HEATR5A_uc010ami.3_Missense_Mutation_p.E1548K	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	2012							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTGACACTTTCCTGATTGCCC	0.383000														33			80		0	0	0.048971	0	0
RTTN	25914	broad.mit.edu	37	18	67843921	67843921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:67843921G>A	uc002lkp.2	-	10	1534	c.1466C>T	c.(1465-1467)cCt>cTt	p.P489L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.P489L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	489							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTTTCAACAGGGAGAAGCGT	0.423000														24			32		0	0	0.069456	0	0
LOC399753	399753	broad.mit.edu	37	10	49218553	49218553	+	Missense_Mutation	SNP	T	C	C	rs77581903		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:49218553T>C	uc001jgd.3	-	7	1745	c.1586A>G	c.(1585-1587)cAt>cGt	p.H529R	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATATTTGGAATGGATCCAGCG	0.567000														20			4		0	0	0.021553	0	0
OR10T2	128360	broad.mit.edu	37	1	158368849	158368849	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:158368849G>A	uc010pih.2	-	0	408	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TTTTGTTTATGATGAGTGTGT	0.453000														81			13		0	0	0.038395	0	0
EYA4	2070	broad.mit.edu	37	6	133827283	133827283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:133827283G>A	uc011ecs.2	+	13	1565	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	EYA4_uc011ecq.2_Missense_Mutation_p.E357K|EYA4_uc011ecr.2_Missense_Mutation_p.E363K|EYA4_uc003qec.4_Missense_Mutation_p.E411K|EYA4_uc003qed.4_Missense_Mutation_p.E411K|EYA4_uc003qee.4_Missense_Mutation_p.E388K|BC041459_uc003qef.1_Non-coding_Transcript|BC041459_uc003qeg.1_Non-coding_Transcript	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	411					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.E411*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCGCATGGAAGAAATGATTTT	0.338000														20			29		0	0	0.037714	0	0
JPH3	57338	broad.mit.edu	37	16	87678069	87678069	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:87678069C>T	uc002fkd.3	+	1	842	c.588C>T	c.(586-588)ttC>ttT	p.F196F	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	196					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCGGGGGCTTCGTGCTCGTGG	0.682000														27			41		0	0	0.111260	0	0
CNGA1	1259	broad.mit.edu	37	4	47953412	47953412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:47953412G>A	uc003gxu.3	-	3	542	c.401C>T	c.(400-402)tCc>tTc	p.S134F	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.S65F|CNGA1_uc003gxv.1_Missense_Mutation_p.S65F	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	65					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATAACTAAAGGAACCCCTTGC	0.443000														41			21		0	0	0.069288	0	0
CD84	8832	broad.mit.edu	37	1	160523163	160523163	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:160523163C>T	uc001fwh.4	-	3	844	c.765G>A	c.(763-765)agG>agA	p.R255R	CD84_uc001fwf.4_Intron|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Intron|CD84_uc001fwj.3_Silent_p.R255R	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	255					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGGGAAAATCCTACCTTGTC	0.458000														29			16		0	0	0.024245	0	0
BMX	660	broad.mit.edu	37	X	15555305	15555305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:15555305G>A	uc004cww.3	+	13	1459	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	BMX_uc004cwx.4_Missense_Mutation_p.G424E|BMX_uc004cwy.4_Missense_Mutation_p.G424E	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	424	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AAGGAGCTGGGAAGTGGCCAG	0.483000														30			89		0	0	0.048971	0	0
BAZ2A	11176	broad.mit.edu	37	12	56992444	56992444	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:56992444G>A	uc001slq.1	-	28	5870	c.5676C>T	c.(5674-5676)agC>agT	p.S1892S	BAZ2A_uc001slp.1_Silent_p.S1890S|BAZ2A_uc001slo.1_Silent_p.S698S|BAZ2A_uc009zov.1_Silent_p.S858S|BAZ2A_uc009zow.1_Silent_p.S1860S	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1892					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTCCCAGCGGCTCTCGAAGA	0.552000														13			8		0	0	0.058154	0	0
APBA1	320	broad.mit.edu	37	9	72131836	72131836	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:72131836G>A	uc004ahh.2	-	1	567	c.291C>T	c.(289-291)atC>atT	p.I97I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	97					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGCCGCGGCGATCACGTCGC	0.716000														4			12		0	0	0.024245	0	0
MXRA5	25878	broad.mit.edu	37	X	3228206	3228207	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:3228206_3228207CC>TT	uc004crg.4	-	6	8194_8195	c.8037_8038GG>AA	c.(8035-8040)ctggag>ctAAag	p.E2680K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2680	Ig-like C2-type 11.					extracellular region		p.L2679M(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGGGGCCCTCCAGATGCATGC	0.604000														17			49		0	0	0.004672	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543248	133543248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:133543248G>A	uc002ttp.3	-	13	1510	c.1136C>T	c.(1135-1137)tCg>tTg	p.S379L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	379	Ser-rich.						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						ACTTGGGAGCGAAGAATCAAT	0.388000														15			17		0	0	0.028581	0	0
THSD7B	80731	broad.mit.edu	37	2	138000074	138000074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:138000074C>T	uc002tva.1	+	8	2105	c.2105C>T	c.(2104-2106)cCa>cTa	p.P702L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P592L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTTTTCTCCCATGCAAAAAA	0.468000														32			28		0	0	0.041601	0	0
RBBP6	5930	broad.mit.edu	37	16	24581171	24581171	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:24581171C>T	uc002dmh.3	+	16	4200	c.3160C>T	c.(3160-3162)Cga>Tga	p.R1054*	RBBP6_uc010vcb.1_Nonsense_Mutation_p.R921*|RBBP6_uc002dmi.3_Nonsense_Mutation_p.R1020*|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Nonsense_Mutation_p.R887*	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1054	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAGATCTCCTCGATCTGAACC	0.398000														33			24		0	0	0.083992	0	0
LRP1B	53353	broad.mit.edu	37	2	141294269	141294269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:141294269G>A	uc002tvj.1	-	45	8495	c.7523C>T	c.(7522-7524)tCc>tTc	p.S2508F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2508					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGCAGGAGGAATTTTTAGC	0.328000										TSP Lung(27;0.18)				24			5		0	0	0.014758	0	0
BRPF3	27154	broad.mit.edu	37	6	36196801	36196801	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:36196801C>T	uc003olv.4	+	11	3626	c.3402C>T	c.(3400-3402)ttC>ttT	p.F1134F	BRPF3_uc010jwb.3_Silent_p.F864F|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Intron|BRPF3_uc011dtk.2_Silent_p.F800F|BRPF3_uc010jwd.3_Silent_p.F36F	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1134	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGAAGCTCTTCCTTGTCCTCT	0.622000														32			17		0	0	0.049695	0	0
OR51S1	119692	broad.mit.edu	37	11	4869999	4869999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4869999C>T	uc010qyo.2	-	0	440	c.440G>A	c.(439-441)gGt>gAt	p.G147D		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147A(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTAATTACACCATTGGTGAG	0.557000														122			59		0	0	0.048971	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370855	35370855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:35370855C>T	uc001byc.3	-	0	130	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	44					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.E44K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AAGCGGGGCTCGGTGGAGAAG	0.687000														20			11		0	0	0.093190	0	0
SQLE	6713	broad.mit.edu	37	8	126017847	126017847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:126017847C>T	uc011liq.2	+	2	1551	c.625C>T	c.(625-627)Cct>Tct	p.P209S		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	209					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GGTTCAGATTCCTTACCCTCT	0.448000														91			66		0	0	0.048971	0	0
GRID2	2895	broad.mit.edu	37	4	94436462	94436462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:94436462C>T	uc011cdt.2	+	12	2351	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	GRID2_uc011cdu.2_Missense_Mutation_p.P603L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	698					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACTGAATCCTTTTGAGAGG	0.483000														36			33		0	0	0.059317	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	Missense_Mutation	SNP	C	T	T	rs143443709	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:141070139C>T	uc010ncq.3	+	3	1219	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000														50			4		0	0	0.014758	0	0
MYO1C	4641	broad.mit.edu	37	17	1373566	1373566	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:1373566T>C	uc002fsp.3	-	23	2649	c.2429A>G	c.(2428-2430)gAc>gGc	p.D810G	MYO1C_uc002fsn.3_Missense_Mutation_p.D791G|MYO1C_uc002fso.3_Missense_Mutation_p.D775G|MYO1C_uc010vqj.1_Missense_Mutation_p.D775G	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	810					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCGCACATGGTCCAGGAAGAA	0.682000														2			8		0	0	0.038147	0	0
OR10A6	390093	broad.mit.edu	37	11	7949948	7949948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:7949948C>T	uc010rbh.2	-	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAGTTTTTTCAGTAGAGAGG	0.438000														58			44		0	0	0.039052	0	0
GSN	2934	broad.mit.edu	37	9	124094753	124094753	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:124094753C>G	uc004blf.1	+	16	2282	c.2221C>G	c.(2221-2223)Cgg>Ggg	p.R741G	GSN_uc004bld.1_Missense_Mutation_p.R690G|GSN_uc010mvr.1_Missense_Mutation_p.R701G|GSN_uc010mvq.1_Missense_Mutation_p.R701G|GSN_uc010mvu.1_Missense_Mutation_p.R690G|GSN_uc010mvt.1_Missense_Mutation_p.R690G|GSN_uc010mvs.1_Missense_Mutation_p.R690G|GSN_uc004ble.1_Missense_Mutation_p.R690G|GSN_uc010mvv.1_Missense_Mutation_p.R690G|GSN_uc011lyh.1_Missense_Mutation_p.R707G|GSN_uc011lyi.1_Missense_Mutation_p.R690G|GSN_uc011lyj.1_Missense_Mutation_p.R714G	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	741	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCGGGATCGGCGGACGCCCAT	0.572000											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			27		0	0	0.034045	0	0
OLAH	55301	broad.mit.edu	37	10	15106407	15106407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:15106407G>A	uc001int.2	+	5	721	c.467G>A	c.(466-468)gGa>gAa	p.G156E	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.G103E	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	103					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TTTAGTATGGGATCCTACATT	0.358000														8			17		0	0	0.038395	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64520756	64520756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:64520756C>T	uc003jtp.3	-	16	3000	c.2186G>A	c.(2185-2187)aGg>aAg	p.R729K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R350K	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	729	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTCACCTCCCCTGGGCAGTGA	0.493000														16			18		0	0	0.033300	0	0
CD6	923	broad.mit.edu	37	11	60777182	60777182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:60777182G>A	uc001nqq.3	+	4	1145	c.920G>A	c.(919-921)gGc>gAc	p.G307D	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Missense_Mutation_p.G307D|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.G307D|CD6_uc001nqt.3_Missense_Mutation_p.G307D	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	307	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGTCCTTGGGCTGTGGAACT	0.612000														41			22		0	0	0.062417	0	0
FER1L6	654463	broad.mit.edu	37	8	124968253	124968253	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:124968253G>A	uc003yqw.3	+	1	221	c.15G>A	c.(13-15)aaG>aaA	p.K5K		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	5						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGGGCTGAAGGTGAAGAAGA	0.443000														20			13		0	0	0.024245	0	0
TRHDE	29953	broad.mit.edu	37	12	73056945	73056945	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:73056945C>T	uc001sxa.3	+	18	3075	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1015					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACGAGCTTTTCCAATGGTTAG	0.398000														29			14		0	0	0.020292	0	0
OR52M1	119772	broad.mit.edu	37	11	4567312	4567312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4567312C>T	uc010qyf.2	+	0	892	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	298					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)		CTATGCTGTTCGCACCAAGCA	0.448000														46			15		0	0	0.033300	0	0
MUC16	94025	broad.mit.edu	37	19	9050170	9050170	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:9050170C>T	uc002mkp.3	-	4	31665	c.31461G>A	c.(31459-31461)aaG>aaA	p.K10487K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10489	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						TGGAAGTGGTCTTCAGAGCTG	0.512000														176			183		0	0	0.048971	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28365888	28365888	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:28365888G>T	uc011dlh.2	-	1	474	c.295C>A	c.(295-297)Cct>Act	p.P99T	ZSCAN12_uc010jre.3_Non-coding_Transcript	NM_001163391	NP_001156863			Homo sapiens zinc finger and SCAN domain containing 12 (ZSCAN12), transcript variant 1, mRNA.											breast(2)|endometrium(3)|urinary_tract(1)	6						AGCTCCTCAGGTAGGATGGTC	0.577000														41			7		1.06961e-07	1.08629e-07	0.038147	1	0
BAALC	79870	broad.mit.edu	37	8	104240299	104240299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:104240299G>A	uc003yld.3	+	2	615	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	BAALC_uc003yle.3_3'UTR|LOC100499183_uc003ylf.2_Intron|BAALC_uc010mcc.3_Non-coding_Transcript	NM_024812	NP_079088	Q8WXS3	BAALC_HUMAN	Homo sapiens brain and acute leukemia, cytoplasmic (BAALC), transcript variant 1, mRNA.	172						centrosome|membrane|nucleus		p.R137*(1)		kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GACAGAAGTCGAAGAATCACA	0.438000														36			23		0	0	0.083992	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	A	A	rs121912651		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				17			34		0	0	0.059317	0	0
MECOM	2122	broad.mit.edu	37	3	168833340	168833340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:168833340C>T	uc011bpj.1	-	7	2723	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	MECOM_uc010hwk.1_Missense_Mutation_p.D609N|MECOM_uc003ffj.3_Missense_Mutation_p.D651N|MECOM_uc003ffi.3_Missense_Mutation_p.D586N|MECOM_uc011bpi.1_Missense_Mutation_p.D587N|MECOM_uc003ffn.3_Missense_Mutation_p.D586N|MECOM_uc003ffk.2_Missense_Mutation_p.D586N|MECOM_uc003ffl.2_Missense_Mutation_p.D746N|MECOM_uc011bpk.1_Missense_Mutation_p.D586N|MECOM_uc010hwn.2_Missense_Mutation_p.D774N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATACTTAGATCCAGGGGCTGG	0.532000														38			22		0	0	0.030593	0	0
RTN3	10313	broad.mit.edu	37	11	63486450	63486450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:63486450C>T	uc001nxq.3	+	2	663	c.476C>T	c.(475-477)cCa>cTa	p.P159L	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Intron|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.P140L|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	159					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CCTTCTATTCCAGCCAGTTTC	0.438000														64			37		0	0	0.074837	0	0
C10orf128	170371	broad.mit.edu	37	10	50396379	50396379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:50396379C>T	uc010qgo.2	-	0	29	c.3G>A	c.(1-3)atG>atA	p.M1I	C10orf128_uc001jhn.4_Missense_Mutation_p.M1I|C10orf128_uc001jho.4_Missense_Mutation_p.M1I			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	1						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CCCCCAAGTTCATGCTGGCGC	0.647000														15			20		0	0	0.076483	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30700559	30700559	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:30700559G>A	uc010gvu.3	-	1	376	c.291C>T	c.(289-291)ctC>ctT	p.L97L	TBC1D10A_uc003ahk.4_Silent_p.L90L	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	90						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCCAGTTGTTGAGCATGTCCA	0.602000														9			20		0	0	0.055883	0	0
TTN	7273	broad.mit.edu	37	2	179498736	179498736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179498736C>T	uc021vsy.1	-	179	35011	c.34786G>A	c.(34786-34788)Gaa>Aaa	p.E11596K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5291K|TTN_uc021vta.1_Missense_Mutation_p.E5224K|TTN_uc021vtb.1_Missense_Mutation_p.E5099K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12523	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGAAAGTTCACAAACAAAA	0.373000														81			78		0	0	0.048971	0	0
GIPC1	10755	broad.mit.edu	37	19	14593660	14593661	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:14593660_14593661GG>CA	uc002myt.3	-	3	398_399	c.128_129CC>TG	c.(127-129)ccc>cTG	p.P43L	GIPC1_uc002myv.3_Intron|GIPC1_uc002myu.3_Missense_Mutation_p.P43L|GIPC1_uc002myw.3_Intron|GIPC1_uc002myx.3_Missense_Mutation_p.P43L|GIPC1_uc002myy.3_Intron	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	43					G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGCCCATTTGGGGGCCCCCCGA	0.723000														7			5		0	0	0.004672	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560440	101560440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:101560440G>A	uc001thz.4	-	11	1748	c.1358C>T	c.(1357-1359)tCt>tTt	p.S453F		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	453					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACCCATAGAGAAATGGCAAA	0.383000														28			6		0	0	0.021553	0	0
C8B	732	broad.mit.edu	37	1	57422542	57422542	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:57422542C>T	uc001cyp.3	-	2	358	c.291G>A	c.(289-291)ggG>ggA	p.G97G	C8B_uc010oon.2_Silent_p.G35G|C8B_uc010ooo.2_Silent_p.G45G	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	97	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G97W(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGCACGGTTCCCCATGGAACT	0.522000														138			68		0	0	0.048971	0	0
MYCBP2	23077	broad.mit.edu	37	13	77700588	77700588	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:77700588G>A	uc021rks.1	-	52	8016	c.7749C>T	c.(7747-7749)ttC>ttT	p.F2583F	MYCBP2_uc010aev.3_Silent_p.F1949F|MYCBP2_uc001vkg.1_Silent_p.F8F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCCTCGCAAGAATGGCATAT	0.438000														38			30		0	0	0.045705	0	0
LYZL6	57151	broad.mit.edu	37	17	34263826	34263826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:34263826G>A	uc002hkj.2	-	2	510	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	LYZL6_uc002hkk.2_Missense_Mutation_p.P104S	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	104					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAGGTTGGGATTCAGCAGA	0.572000														25			23		0	0	0.034045	0	0
EHBP1	23301	broad.mit.edu	37	2	63085637	63085637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:63085637C>T	uc002sby.3	+	7	1213	c.731C>T	c.(730-732)tCc>tTc	p.S244F	EHBP1_uc010fcp.3_Intron|EHBP1_uc002sbx.2_Intron|EHBP1_uc002sbz.3_Intron|EHBP1_uc002scb.3_Intron	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	244						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAGCCAGTTCCTCTGAAGGT	0.408000														30			23		0	0	0.083992	0	0
SLC39A8	64116	broad.mit.edu	37	4	103225507	103225507	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:103225507G>A	uc003hwb.1	-	4	1336	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC39A8_uc011ceo.1_Silent_p.I269I|SLC39A8_uc003hwa.1_Silent_p.I202I|SLC39A8_uc003hwc.2_Silent_p.I269I	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	269						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TATCAAAATGGATATGTCCAT	0.358000														39			21		0	0	0.062417	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983600	223983600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:223983600G>A	uc001hod.3	-	13	3065	c.2254C>T	c.(2254-2256)Cca>Tca	p.P752S	TP53BP2_uc010pvb.2_Missense_Mutation_p.P881S|TP53BP2_uc010puz.2_Missense_Mutation_p.P114S|TP53BP2_uc010pva.2_Missense_Mutation_p.P520S	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	875					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding	p.P752L(2)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TCCCCAGATGGGTATGGTGGG	0.557000														57			50		0	0	0.048971	0	0
SLC17A3	10786	broad.mit.edu	37	6	25845740	25845740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:25845740G>A	uc003nfk.4	-	11	1477	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	SLC17A3_uc003nfi.4_Missense_Mutation_p.P378L	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	378					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CCCAAACTCAGGGTCCTGGAG	0.403000														39			29		0	0	0.045705	0	0
RRP9	9136	broad.mit.edu	37	3	51967584	51967584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:51967584G>A	uc003dbw.1	-	14	1405	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	456					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	p.R456R(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ACAGAATTCCGAGCCTCTTTG	0.572000														46			38		0	0	0.086207	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428803	142428803	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142428803C>T	uc011ksk.1	+	1	180	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Nonsense_Mutation_p.R10*					SubName: Full=V_segment translation product; Flags: Fragment;																		GTTCTGGTATCGACAAGACCC	0.423000														31			10		0	0	0.080935	0	0
SYT10	341359	broad.mit.edu	37	12	33579337	33579337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:33579337G>A	uc001rll.1	-	1	542	c.245C>T	c.(244-246)cCa>cTa	p.P82L	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	82						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCCAGCATGGCCAACACAG	0.438000														21			4		0	0	0.009096	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827107	79827107	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:79827107G>A	uc021uff.1	-	4	663	c.357C>T	c.(355-357)aaC>aaT	p.N119N	AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_Silent_p.N119N|ARHGDIA_uc021ufg.1_Silent_p.N119N|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	119					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTATCTCTCGGTTAACCTGCA	0.642000														36			25		0	0	0.083992	0	0
PADI6	353238	broad.mit.edu	37	1	17698834	17698834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:17698834G>A	uc001bak.1	+	0	94	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	24					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTTGGGCACAGAAATCTGCTT	0.612000														138			99		0	0	0.048971	0	0
KCNH8	131096	broad.mit.edu	37	3	19574921	19574921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:19574921G>A	uc003cbk.1	+	15	2849	c.2654G>A	c.(2653-2655)gGt>gAt	p.G885D	KCNH8_uc010hex.1_Missense_Mutation_p.G346D	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	885						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTCAGTTGGGTAAAGACATG	0.448000														66			49		0	0	0.048971	0	0
UNC5C	8633	broad.mit.edu	37	4	96124094	96124094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:96124094C>T	uc003hto.3	-	11	2277	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	UNC5C_uc010ilc.2_Missense_Mutation_p.E661K	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	642					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTGAAGTTTTCCTCCCCGACC	0.602000														50			25		0	0	0.076483	0	0
RERGL	79785	broad.mit.edu	37	12	18234147	18234147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:18234147C>T	uc001rdq.3	-	5	790	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	199	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTTCTCTTTCCAAATACATT	0.338000														21			4		0	0	0.014758	0	0
TG	7038	broad.mit.edu	37	8	134025976	134025976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:134025976C>T	uc003ytw.3	+	36	6570	c.6529C>T	c.(6529-6531)Cgt>Tgt	p.R2177C	TG_uc010mdw.3_Missense_Mutation_p.R936C|TG_uc011ljb.2_Missense_Mutation_p.R546C|TG_uc011ljc.2_Missense_Mutation_p.R310C	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2177					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R2177C(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCTGCTTCGTGAAGAGGC	0.527000														20			15		0	0	0.024245	0	0
USH1G	124590	broad.mit.edu	37	17	72915799	72915799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:72915799C>T	uc002jme.1	-	1	1315	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	USH1G_uc010wro.1_Missense_Mutation_p.D275N	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	378					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AAGCCTAAATCGAGCTCATCC	0.657000														46			35		0	0	0.054565	0	0
C5orf30	90355	broad.mit.edu	37	5	102611805	102611805	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:102611805T>C	uc003kog.1	+	2	454	c.185T>C	c.(184-186)gTt>gCt	p.V62A	C5orf30_uc003koh.1_Missense_Mutation_p.V62A|C5orf30_uc021yca.1_Missense_Mutation_p.V62A	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	Homo sapiens chromosome 5 open reading frame 30 (C5orf30), mRNA.	62										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AACTATTTGGTTGGCTTCACG	0.567000														30			26		0	0	0.083992	0	0
EIF3J	8669	broad.mit.edu	37	15	44852491	44852491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:44852491C>T	uc001ztv.3	+	6	743	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	EIF3J_uc010ueg.2_Missense_Mutation_p.L152F	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	206						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		ACTGACTGTGCTTTGCAGTGA	0.323000														51			12		0	0	0.093190	0	0
IBSP	3381	broad.mit.edu	37	4	88723662	88723662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:88723662G>A	uc003hqx.4	+	2	155	c.57G>A	c.(55-57)atG>atA	p.M19I		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	19					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAAAACAGATGAAAAATTTGC	0.274000														26			18		0	0	0.033300	0	0
MUC16	94025	broad.mit.edu	37	19	9020060	9020060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:9020060C>T	uc002mkp.3	-	20	37639	c.37435G>A	c.(37435-37437)Gag>Aag	p.E12479K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12481	SEA 3.				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						TGGCTCAGCTCCCAGTACAGC	0.552000														152			43		0	0	0.039052	0	0
KRT80	144501	broad.mit.edu	37	12	52579416	52579416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:52579416C>T	uc001rzw.3	-	0	118	c.67G>A	c.(67-69)Gac>Aac	p.D23N	KRT80_uc001rzy.3_Intron|KRT80_uc001rzx.3_Intron	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	0	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GTGGACCAGTCGGGGGCTGAG	0.652000														2			7		0	0	0.029380	0	0
DLC1	10395	broad.mit.edu	37	8	12957134	12957134	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:12957134G>A	uc003wwm.2	-	8	3156	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	DLC1_uc003wwk.1_Silent_p.P467P|DLC1_uc003wwl.1_Silent_p.P501P|DLC1_uc011kxx.1_Silent_p.P393P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	904					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTCCAGCTCGGGGAAGATGT	0.582000														28			11		0	0	0.093190	0	0
KIAA1257	57501	broad.mit.edu	37	3	128707654	128707654	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:128707654G>A	uc003elj.4	-	2	566	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	KIAA1257_uc003elg.1_Silent_p.L124L|KIAA1257_uc003eli.4_Silent_p.L12L	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	124										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCGTCCGGCAGAAGGAAATAC	0.393000														38			26		0	0	0.099896	0	0
CR2	1380	broad.mit.edu	37	1	207651280	207651280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:207651280G>A	uc001hfw.3	+	14	2895	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	CR2_uc001hfv.3_Missense_Mutation_p.E985K|CR2_uc009xch.3_Missense_Mutation_p.E864K	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	926	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAAGGGCTGGAACCAAGGAA	0.438000														28			7		0	0	0.058154	0	0
UBE4B	10277	broad.mit.edu	37	1	10195090	10195090	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:10195090C>T	uc021ogc.1	+	16	2911	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	UBE4B_uc001aqs.4_Silent_p.F690F|UBE4B_uc001aqr.4_Silent_p.F561F|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.F145F	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	690					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCTGAATTTCCTTTGGGTAC	0.328000														32			27		0	0	0.034045	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487374	31487374	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:31487374C>T	uc002ecd.2	+	7	790	c.756C>T	c.(754-756)ttC>ttT	p.F252F	TGFB1I1_uc021tgx.1_Silent_p.F235F|TGFB1I1_uc002ece.2_Silent_p.F235F	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	252	LIM zinc-binding 1.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CCGAGCACTTCGTTTGCGGAG	0.657000														50			27		0	0	0.030593	0	0
RORB	6096	broad.mit.edu	37	9	77282758	77282758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:77282758C>T	uc004aji.3	+	7	1134	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	RORB_uc004ajh.3_Missense_Mutation_p.S351F	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	362	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AATTTGTGTTCCTTGCAGCTG	0.383000														25			49		0	0	0.048971	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262086	140262086	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140262086A>T	uc003lif.2	+	0	233	c.233A>T	c.(232-234)aAt>aTt	p.N78I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.N78I|PCDHAC2_uc003lid.3_Missense_Mutation_p.N78I	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	93	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGGTAAATCTGCAGAAT	0.627000														163			48		0	0	0.048971	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978578	10978578	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:10978578C>T	uc001qyy.1	-	0	291	c.291G>A	c.(289-291)tgG>tgA	p.W97*		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	97					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTGGCAAACCACATACTTG	0.348000														38			30		0	0	0.050027	0	0
CCDC33	80125	broad.mit.edu	37	15	74622553	74622553	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:74622553C>T	uc002axo.3	+	11	1708	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A	CCDC33_uc002axp.3_Silent_p.A260A|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.A31A|CCDC33_uc002axr.3_Silent_p.A31A	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	641							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						ACCGGCGGGCCATGCAGAAGA	0.597000														25			19		0	0	0.055883	0	0
TACC3	10460	broad.mit.edu	37	4	1746492	1746493	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:1746492_1746493CC>TT	uc003gdo.3	+	14	2539_2540	c.2384_2385CC>TT	c.(2383-2385)gcc>gTT	p.A795V	TACC3_uc003gdp.3_Missense_Mutation_p.A435V	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	795						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAAGCGTTGGCCCTCCAGGCCA	0.678000														36			18		0	0	0.004672	0	0
SPERT	220082	broad.mit.edu	37	13	46287914	46287914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:46287914G>A	uc001van.1	+	2	834	c.754G>A	c.(754-756)Gag>Aag	p.E252K	SPERT_uc001vao.2_Missense_Mutation_p.E216K	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	252						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCTCCTCCGGGAGGAGAATCG	0.682000														12			8		0	0	0.038147	0	0
LRP1	4035	broad.mit.edu	37	12	57579335	57579335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:57579335C>T	uc001snd.3	+	40	6951	c.6485C>T	c.(6484-6486)gCc>gTc	p.A2162V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2162	EGF-like 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCGCGGTGGCCAATGGCGGG	0.692000														25			8		0	0	0.069234	0	0
SLC5A5	6528	broad.mit.edu	37	19	17994532	17994532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:17994532G>A	uc002nhr.4	+	10	1632	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	429					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCCCCTGCTGGGAGCCTTCAT	0.711000														81			20		0	0	0.069288	0	0
GABRA4	2557	broad.mit.edu	37	4	46994906	46994906	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:46994906G>A	uc003gxg.3	-	1	1127	c.144C>T	c.(142-144)ttC>ttT	p.F48F	GABRA4_uc021xnz.1_Silent_p.F29F|GABRA4_uc021xoa.1_Silent_p.F29F	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGATGCGGGTGAAATTTTCTG	0.468000														50			26		0	0	0.108266	0	0
P2RY13	53829	broad.mit.edu	37	3	151046683	151046683	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:151046683A>C	uc003eyv.2	-	1	182	c.161T>G	c.(160-162)gTt>gGt	p.V54G	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	54						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GGTCAAGAAAACCACTGTGTA	0.507000														115			56		0	0	0.048971	0	0
CAMKV	79012	broad.mit.edu	37	3	49898415	49898415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:49898415G>A	uc003cxt.1	-	6	792	c.599C>T	c.(598-600)cCt>cTt	p.P200L	CAMKV_uc011bcy.1_Missense_Mutation_p.P125L|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Missense_Mutation_p.P32L|CAMKV_uc003cxx.1_Missense_Mutation_p.P32L|CAMKV_uc003cxu.2_Missense_Mutation_p.P200L|CAMKV_uc011bcz.1_Missense_Mutation_p.P163L|CAMKV_uc011bda.1_Missense_Mutation_p.P157L|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	200	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCAGTCCACAGGGCGTCCATA	0.592000														50			34		0	0	0.069456	0	0
C1orf127	148345	broad.mit.edu	37	1	11015049	11015049	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:11015049G>A	uc010oao.2	-	8	973	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	C1orf127_uc001ars.2_Nonsense_Mutation_p.Q186*|C1orf127_uc001arr.2_Nonsense_Mutation_p.Q168*	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	176										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATACTCACCTGGACCTGGAGC	0.557000														43			30		0	0	0.050027	0	0
VPS16	64601	broad.mit.edu	37	20	2846928	2846928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:2846928C>T	uc002whe.3	+	22	2390	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Missense_Mutation_p.P637L|VPS16_uc002whg.3_Missense_Mutation_p.P467L	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	781					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CGCGTGGGTCCCGAGCAGAAG	0.557000														72			27		0	0	0.037714	0	0
FAM200A	221786	broad.mit.edu	37	7	99145873	99145873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:99145873G>A	uc003ura.3	-	1	538	c.158C>T	c.(157-159)tCt>tTt	p.S53F	FAM200A_uc003urb.3_Missense_Mutation_p.S53F|FAM200A_uc022aia.1_Missense_Mutation_p.S53F	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN	Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA.	53						integral to membrane	nucleic acid binding	p.S53F(2)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						catagttgtagagcgactgag	0.408000														19			15		0	0	0.020292	0	0
SI	6476	broad.mit.edu	37	3	164780204	164780204	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:164780204G>A	uc003fei.3	-	8	1038	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	325	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.I325I(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCCTAGAAGGATGTAAAAAT	0.313000										HNSCC(35;0.089)				39			25		0	0	0.034045	0	0
UNC13C	440279	broad.mit.edu	37	15	54707184	54707184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:54707184C>T	uc021smr.1	+	16	4846	c.4846C>T	c.(4846-4848)Cct>Tct	p.P1616S	UNC13C_uc021sms.1_Missense_Mutation_p.P1618S|UNC13C_uc002acl.3_Missense_Mutation_p.P448S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1618					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTAGGTTTCCTCAAGAGCT	0.303000														28			14		0	0	0.028581	0	0
SGSM1	129049	broad.mit.edu	37	22	25251579	25251579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:25251579G>A	uc003abg.2	+	7	890	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SGSM1_uc010guu.1_Missense_Mutation_p.V245M|SGSM1_uc003abh.2_Missense_Mutation_p.V245M|SGSM1_uc003abj.2_Missense_Mutation_p.V245M|SGSM1_uc003abi.1_Missense_Mutation_p.V220M|SGSM1_uc003abf.2_Missense_Mutation_p.V245M	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	245						Golgi apparatus	Rab GTPase activator activity	p.V245M(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCGCGACTACGTGGAGTCCCT	0.562000														12			14		0	0	0.020292	0	0
KIF2B	84643	broad.mit.edu	37	17	51902066	51902066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:51902066G>A	uc002iua.2	+	0	1828	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	558					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTATCCGATTGGACATGAGGC	0.383000														28			37		0	0	0.086207	0	0
GIF	2694	broad.mit.edu	37	11	59604762	59604762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:59604762C>T	uc001noi.3	-	5	804	c.756G>A	c.(754-756)atG>atA	p.M252I		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	252					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTGAGTATCATATCCGTAG	0.453000														45			26		0	0	0.083992	0	0
ARHGDIB	397	broad.mit.edu	37	12	15095556	15095556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:15095556C>T	uc001rcq.1	-	5	610	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_001175	NP_001166	P52566	GDIR2_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) beta (ARHGDIB), mRNA.	169				RG -> QD (in Ref. 3; L07916).	Rho protein signal transduction|actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GTACGTGCCTCGCGCCAGCAT	0.532000														83			39		0	0	0.098360	0	0
GLRB	2743	broad.mit.edu	37	4	158091827	158091827	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:158091827T>A	uc003ipj.2	+	9	1643	c.1441T>A	c.(1441-1443)Ttt>Att	p.F481I	GLRB_uc021xtp.1_3'UTR|GLRB_uc021xtq.1_Missense_Mutation_p.F481I	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	481					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AAGAGCATTGTTTCCTTTCTG	0.353000														67			33		0	0	0.064281	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768288	140768288	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140768288C>T	uc003lkc.2	+	0	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	279	Cadherin 3.				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)			AGATTACTTTCTCTTTCAGTG	0.453000														65			19		0	0	0.043863	0	0
TGFBR3	7049	broad.mit.edu	37	1	92182152	92182152	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:92182152G>A	uc001doh.3	-	10	2195	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	TGFBR3_uc009wde.3_Silent_p.S337S|TGFBR3_uc010osy.2_Silent_p.S518S|TGFBR3_uc001doi.3_Silent_p.S559S|TGFBR3_uc001doj.3_Silent_p.S559S	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	560	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGGTGAACAGGGAAGCATCTC	0.463000														335			127		0	0	0.048971	0	0
CSMD1	64478	broad.mit.edu	37	8	3267101	3267101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:3267101G>A	uc022aqr.1	-	12	1978	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	531	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGATTCCAGGATCCCCACAC	0.473000														12			4		0	0	0.029380	0	0
NLRP8	126205	broad.mit.edu	37	19	56467104	56467104	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:56467104C>T	uc002qmh.3	+	2	1751	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	NLRP8_uc010etg.3_Silent_p.F560F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	560						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTTCTTATTCGGTTTTCTGA	0.463000														41			23		0	0	0.069288	0	0
ADTRP	84830	broad.mit.edu	37	6	11778949	11778949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:11778949C>T	uc011dip.2	-	0	332	c.44G>A	c.(43-45)aGc>aAc	p.S15N	ADTRP_uc003nab.3_Missense_Mutation_p.S15N	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	15						integral to membrane											AGTATACCAGCTCAGAACAAG	0.458000														76			44		0	0	0.098360	0	0
OR14C36	127066	broad.mit.edu	37	1	248512563	248512563	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:248512563C>T	uc010pzl.2	+	0	487	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGCACATTCCAGCTGCCCTT	0.512000														64			22		0	0	0.062417	0	0
TMEM2	23670	broad.mit.edu	37	9	74324376	74324376	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:74324376G>A	uc011lsa.1	-	16	3324	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	TMEM2_uc010mos.2_Silent_p.V865V|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	928						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTCCAAAAAAGACATTCAGAG	0.458000														11			25		0	0	0.099896	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502682	140502682	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140502682C>T	uc003lip.1	+	0	1102	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	368	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTATCTTCCGAATTCGAGA	0.403000														132			53		0	0	0.048971	0	0
COL5A1	1289	broad.mit.edu	37	9	137642408	137642408	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:137642408C>T	uc004cfe.3	+	11	1897	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	505	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACGCCCAGGCCTTCCTGGGG	0.662000														26			42		0	0	0.039052	0	0
TTC27	55622	broad.mit.edu	37	2	32889429	32889429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:32889429C>T	uc002rom.3	+	5	973	c.700C>T	c.(700-702)Cat>Tat	p.H234Y	TTC27_uc010ymx.2_Missense_Mutation_p.H184Y	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	234							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TATTCAATTCCATCTGGAATG	0.308000														62			21		0	0	0.076483	0	0
ARMC9	80210	broad.mit.edu	37	2	232160934	232160934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:232160934G>A	uc002vrq.4	+	18	1853	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	ARMC9_uc002vrp.4_Missense_Mutation_p.E581K|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	581							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGTGTTCTTGAATCTGATGA	0.398000														33			10		0	0	0.020292	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000310	16000310	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:16000310G>A	uc002nbs.1	-	6	891	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	CYP4F2_uc010xot.1_Nonsense_Mutation_p.Q132*|CYP4F2_uc010xou.1_Nonsense_Mutation_p.Q132*	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	281					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAACACCCTGGCTAGGGAGA	0.577000														79			18		0	0	0.049695	0	0
XCL2	6846	broad.mit.edu	37	1	168511246	168511246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:168511246G>A	uc001gfn.4	-	1	194	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	Homo sapiens chemokine (C motif) ligand 2 (XCL2), mRNA.	54					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TGCTCTCAAGGAGCCTTCCGT	0.512000														69			18		0	0	0.049695	0	0
OPN1SW	611	broad.mit.edu	37	7	128415809	128415809	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:128415809G>A	uc003vnt.4	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	12					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGATATTTTTGAACAGATAAA	0.537000														69			33		0	0	0.054565	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764302	120764302	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:120764302T>G	uc003eec.4	+	4	530	c.390T>G	c.(388-390)agT>agG	p.S130R	STXBP5L_uc011bji.2_Missense_Mutation_p.S130R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	130					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCAGTGCAAGTTCAGATGATA	0.348000														192			34		0	0	0.086207	0	0
OR4A16	81327	broad.mit.edu	37	11	55110948	55110948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:55110948C>T	uc010rie.2	+	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCGCTATTTCCTTGTCAGCT	0.438000														119			80		0	0	0.048971	0	0
TRBV9	28586	broad.mit.edu	37	7	142239615	142239615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142239615G>A	uc011ksd.2	-	1	276	c.265C>T	c.(265-267)Cct>Tct	p.P89S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCAAGTCAGGGAACTGTTGT	0.502000														89			52		0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179582272	179582272	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179582272G>A	uc021vsy.1	-	83	21822	c.21597C>T	c.(21595-21597)tcC>tcT	p.S7199S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S3860S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8126	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTGGCACTGGATGAAGCAG	0.453000														12			12		0	0	0.020292	0	0
LOC649330	649330	broad.mit.edu	37	1	12907847	12907847	+	Missense_Mutation	SNP	C	T	T	rs150230498		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:12907847C>T	uc010obf.2	-	1	522	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	LOC649330_uc009vno.2_Missense_Mutation_p.R99Q	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	99							nucleic acid binding|nucleotide binding										CGCTGCTGATCGTTTCACACC	0.488000														158			15		0	0	0.024245	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411324	121411324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:121411324G>A	uc010hrc.3	-	13	7013	c.6887C>T	c.(6886-6888)tCc>tTc	p.S2296F	GOLGB1_uc003eei.4_Missense_Mutation_p.S2291F|GOLGB1_uc003eej.4_Missense_Mutation_p.S2257F|GOLGB1_uc021xcy.1_Missense_Mutation_p.S2216F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2291					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCTAGCTGGGACAAAAGTTC	0.448000														82			47		0	0	0.045515	0	0
CA3	761	broad.mit.edu	37	8	86351966	86351966	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:86351966C>T	uc003ydj.3	+	1	143	c.60C>T	c.(58-60)ttC>ttT	p.F20F	CA13_uc003ydf.1_Non-coding_Transcript|CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	20					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAACTTTTCCCAAATGCCA	0.478000														31			18		0	0	0.049695	0	0
C1orf173	127254	broad.mit.edu	37	1	75037580	75037580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:75037580C>T	uc001dgg.3	-	13	4033	c.3814G>A	c.(3814-3816)Gaa>Aaa	p.E1272K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1272	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCAACAGCTTCCTGGGTCCTT	0.567000														126			47		0	0	0.048971	0	0
DVL2	1856	broad.mit.edu	37	17	7134113	7134114	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7134113_7134114CA>AC	uc002gez.1	-	1	479_480	c.197_198TG>GT	c.(196-198)gtg>gGT	p.V66G	DVL2_uc010vtr.1_Missense_Mutation_p.V66G|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.V66G	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	66	DIX.				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						CTTCCTTCACCACCCTGCCAAG	0.574000														23			52		0	0	0.004672	0	0
CLN8	2055	broad.mit.edu	37	8	1728417	1728417	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:1728417C>T	uc003wpo.4	+	3	849	c.544_splice	c.e3-1	p.A182_splice		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.	182	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCCATGCAGGCGGGCTGGTCC	0.453000														61			23		0	0	0.091800	0	0
CCDC18	343099	broad.mit.edu	37	1	93687259	93687259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:93687259C>T	uc021opx.1	+	14	2217	c.2056C>T	c.(2056-2058)Cat>Tat	p.H686Y	CCDC18_uc009wdl.1_Missense_Mutation_p.H321Y	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	685										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CAAACAACATCATCTTGAATC	0.318000														243			88		0	0	0.048971	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625337	56625337	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:56625337C>T	uc010sqj.2	+	3	536	c.279C>T	c.(277-279)tcC>tcT	p.S93S	SLC39A5_uc010sqi.2_5'UTR|SLC39A5_uc010sqk.2_Silent_p.S93S	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	93					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGACAATTCCACACACAGGT	0.627000														51			29		0	0	0.034045	0	0
LPAL2	80350	broad.mit.edu	37	6	160913983	160913983	+	RNA	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:160913983G>A	uc003qtj.2	-	2		c.338C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCAGTAGTTCGAGATCAAGCC	0.493000														17			37		0	0	0.086207	0	0
DPPA4	55211	broad.mit.edu	37	3	109049623	109049623	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:109049623T>A	uc003dxq.4	-	4	482	c.427A>T	c.(427-429)Aaa>Taa	p.K143*	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Nonsense_Mutation_p.K143*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	143						nucleus	protein binding	p.R142L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGCAATGATTTCCGGATTTTG	0.393000														68			44		0	0	0.048971	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148968112	148968112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:148968112C>T	uc003ilf.3	+	19	1937	c.1937C>T	c.(1936-1938)cCc>cTc	p.P646L	ARHGAP10_uc003ilg.3_Missense_Mutation_p.P295L|ARHGAP10_uc003ilh.3_Missense_Mutation_p.P227L|ARHGAP10_uc003ili.3_Missense_Mutation_p.P79L	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	646					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TCCCCGTCTCCCGTGACTACA	0.522000														67			39		0	0	0.104719	0	0
NEB	4703	broad.mit.edu	37	2	152520314	152520314	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:152520314C>T	uc021vrb.1	-	42	5540	c.5511G>A	c.(5509-5511)ctG>ctA	p.L1837L	NEB_uc002txu.3_Silent_p.L1837L|NEB_uc021vrc.1_Silent_p.L1837L|NEB_uc010fnx.3_Silent_p.L1837L|NEB_uc021vrd.1_Silent_p.L1837L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1837					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)		GGTCATCTTCCAGGCTCCGGA	0.453000														76			11		0	0	0.105934	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033633	110033633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:110033633C>T	uc001dxr.3	+	9	1463	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	ATXN7L2_uc001dxs.3_Missense_Mutation_p.P110L	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	483										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCACCTGCCCCCGCCTTCCA	0.637000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		710			20		0	0	0.055883	0	0
GJC1	10052	broad.mit.edu	37	17	42882355	42882355	+	Silent	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:42882355A>G	uc002ihj.3	-	1	1342	c.831T>C	c.(829-831)taT>taC	p.Y277Y	GJC1_uc002ihk.3_Silent_p.Y277Y|GJC1_uc002ihl.3_Silent_p.Y277Y|GJC1_uc021tyf.1_Silent_p.Y277Y	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	277					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AAGTGAAAGGATAATTATAAG	0.443000														32			85		0	0	0.048971	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118359630	118359630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:118359630G>A	uc001lco.1	+	8	904	c.886G>A	c.(886-888)Gat>Aat	p.D296N	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.D296N	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	296					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.P295P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCTCAATCCCGATGGGTTTGC	0.483000														49			42		0	0	0.098360	0	0
CCDC146	57639	broad.mit.edu	37	7	76909908	76909908	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:76909908C>T	uc003uga.3	+	13	1984	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	CCDC146_uc010ldp.3_Silent_p.I333I|CCDC146_uc003ugc.3_5'Flank	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	619										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCACAATGATCGAAGAGGAGA	0.418000														29			16		0	0	0.033300	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650952	94650952	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:94650952C>T	uc001dqj.4	-	16	2235	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.T188T	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	622					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.T622T(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCCTACATTTCGTGGGGGATC	0.398000														71			35		0	0	0.074837	0	0
HARS2	23438	broad.mit.edu	37	5	140073847	140073847	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140073847C>T	uc003lgx.3	+	3	597	c.381C>T	c.(379-381)tcC>tcT	p.S127S	HARS_uc003lgv.3_5'Flank|HARS_uc011czm.2_5'Flank|HARS_uc003lgw.3_5'Flank|HARS_uc011czn.2_5'Flank|HARS_uc011czo.2_5'Flank|HARS_uc011czp.2_5'Flank|HARS_uc011czq.2_5'Flank|HARS2_uc010jfv.1_Silent_p.S57S|HARS2_uc011czr.2_Silent_p.S102S|HARS2_uc011czs.2_Intron|HARS2_uc011czt.2_Intron|HARS2_uc011czu.2_5'Flank	NM_012208	NP_036340	P49590	SYHM_HUMAN	Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (putative) (HARS2), nuclear gene encoding mitochondrial protein, mRNA.	127					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTTGTCCCTCCGCTATG	0.483000														45			58		0	0	0.048971	0	0
SYT15	83849	broad.mit.edu	37	10	46969395	46969395	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:46969395G>A	uc001jea.3	-	1	219	c.66C>T	c.(64-66)atC>atT	p.I22I	SYT15_uc001jdz.2_Silent_p.I22I|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	22						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGCTTGCCCCGATCAACAGCA	0.637000														16			8		0	0	0.038147	0	0
GMCL1	64395	broad.mit.edu	37	2	70096880	70096880	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:70096880C>T	uc002sfu.3	+	11	1455	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	Homo sapiens germ cell-less homolog 1 (Drosophila) (GMCL1), mRNA.	416					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GTTTTAACTTCGGCTTCGACC	0.358000														56			25		0	0	0.037714	0	0
GRIA1	2890	broad.mit.edu	37	5	153056646	153056646	+	Silent	SNP	G	A	A	rs146697277		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:153056646G>A	uc011dcy.2	+	6	1011	c.984G>A	c.(982-984)ggG>ggA	p.G328G	GRIA1_uc003lva.4_Silent_p.G318G|GRIA1_uc003luy.4_Silent_p.G318G|GRIA1_uc003luz.4_Silent_p.G223G|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.G238G|GRIA1_uc011dcx.2_Silent_p.G249G|GRIA1_uc011dcz.2_Silent_p.G328G|GRIA1_uc010jia.1_Silent_p.G298G	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	318					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCGCCGGGGGAATGCTGGGG	0.572000														20			23		0	0	0.091800	0	0
CRIP3	401262	broad.mit.edu	37	6	43274219	43274219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:43274219G>A	uc010jyn.2	-	4	365	c.365C>T	c.(364-366)tCg>tTg	p.S122L	CRIP3_uc003ouu.1_Missense_Mutation_p.S122L	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	122	LIM zinc-binding 2.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGGGCACAGCGAGGTCTCCCC	0.582000														55			26		0	0	0.045705	0	0
ANAPC2	29882	broad.mit.edu	37	9	140079394	140079394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:140079394C>T	uc004clr.1	-	3	1092	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ANAPC2_uc004clq.1_Missense_Mutation_p.R199H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	340					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCCTCGATGCGCAGGCTGGC	0.701000														34			10		0	0	0.069234	0	0
MSLN	10232	broad.mit.edu	37	16	815753	815753	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:815753G>A	uc002cjw.2	+	9	969	c.858G>A	c.(856-858)cgG>cgA	p.R286R	MSLN_uc002cju.1_Silent_p.R286R|MSLN_uc002cjt.1_Silent_p.R286R|MSLN_uc010brd.1_Silent_p.R285R|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	286	Required for megakaryocyte-potentiating factor activity.				cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AGCCTGAACGGACCATCCTCC	0.716000														27			7		0	0	0.038147	0	0
GRIA2	2891	broad.mit.edu	37	4	158283982	158283982	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:158283982T>A	uc003ipm.4	+	14	2897	c.2438T>A	c.(2437-2439)gTt>gAt	p.V813D	GRIA2_uc011cit.2_Missense_Mutation_p.V766D|GRIA2_uc003ipl.4_Missense_Mutation_p.V813D|GRIA2_uc003ipk.4_Missense_Mutation_p.V766D|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	813					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGAGCAACGTTGCTGGAGTA	0.463000														59			34		0	0	0.054565	0	0
OR4C12	283093	broad.mit.edu	37	11	50003287	50003287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:50003287G>A	uc010ria.2	-	0	785	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P251A(2)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AATATACAGGGCACAAAGAAT	0.418000														25			20		0	0	0.055883	0	0
ADORA3	140	broad.mit.edu	37	1	112043112	112043112	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:112043112G>A	uc001ebh.4	-	1	1184	c.417C>T	c.(415-417)ttC>ttT	p.F139F	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	139					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATCCCACCAGGAATGACACCA	0.498000														136			44		0	0	0.039052	0	0
PLIN4	729359	broad.mit.edu	37	19	4510580	4510580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:4510580C>T	uc002mar.1	-	2	3350	c.3350G>A	c.(3349-3351)aGg>aAg	p.R1117K	PLIN4_uc010dub.1_Missense_Mutation_p.R141K	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	1117						lipid particle|plasma membrane		p.R1117C(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CGTGTCCTCCCTGCCTGGGGC	0.662000														12			11		0	0	0.080935	0	0
DNAH5	1767	broad.mit.edu	37	5	13737548	13737548	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:13737548C>T	uc003jfd.2	-	65	11310	c.11268G>A	c.(11266-11268)agG>agA	p.R3756R	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3756	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3756M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCCTTCATCCTTCTTTTGT	0.373000									Kartagener syndrome					46			71		0	0	0.048971	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760868	15760868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:15760868G>A	uc010xok.2	+	6	843	c.793G>A	c.(793-795)Gac>Aac	p.D265N	CYP4F3_uc010xol.2_Missense_Mutation_p.D265N|CYP4F3_uc002nbj.3_Missense_Mutation_p.D265N|CYP4F3_uc010xom.2_Missense_Mutation_p.D116N|CYP4F3_uc002nbk.3_Missense_Mutation_p.D265N|CYP4F3_uc010xon.2_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	265					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.H264H(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTGGTGCACGACTTCACAGA	0.562000														127			36		0	0	0.069456	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:70946612C>T	uc001swb.4	-	18	4708	c.4678G>A	c.(4678-4680)Gat>Aat	p.D1560N	PTPRB_uc010sto.2_Missense_Mutation_p.D1470N|PTPRB_uc010stp.2_Missense_Mutation_p.D1470N|PTPRB_uc001swc.4_Missense_Mutation_p.D1778N|PTPRB_uc001swa.4_Missense_Mutation_p.D1690N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1560					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGTGGGATCGCATTTTCCA	0.423000														45			19		0	0	0.038395	0	0
KAT2B	8850	broad.mit.edu	37	3	20187898	20187898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:20187898C>T	uc003cbq.3	+	13	2541	c.2095C>T	c.(2095-2097)Cct>Tct	p.P699S		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	699					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCGACAGATTCCTATAGAAAG	0.328000														71			59		0	0	0.048971	0	0
MUC16	94025	broad.mit.edu	37	19	9089011	9089011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:9089011G>A	uc002mkp.3	-	0	3008	c.2804C>T	c.(2803-2805)gCt>gTt	p.A935V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	935	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						TTTAGGAAGAGCTGAACCAGT	0.493000														57			19		0	0	0.055883	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270230	1270230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:1270230G>A	uc002cks.3	+	34	6546	c.6298G>A	c.(6298-6300)Gag>Aag	p.E2100K	CACNA1H_uc002ckt.3_Missense_Mutation_p.E2094K|CACNA1H_uc002cku.3_Missense_Mutation_p.E795K|CACNA1H_uc010brj.3_Missense_Mutation_p.E811K|CACNA1H_uc002ckv.3_Missense_Mutation_p.E789K	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2100					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)	AGCCGACGAGGAGGTCAGCCA	0.741000														12			5		0	0	0.038147	0	0
EFNA3	1944	broad.mit.edu	37	1	155039300	155039300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:155039300C>T	uc001fhc.3	+	1	295	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	EFNA3_uc010pew.2_Intron|LOC100505666_uc021pan.1_5'Flank|EFNA3_uc001fhd.3_Missense_Mutation_p.P70S|EFNA3_uc001fhe.3_Missense_Mutation_p.P70S	NM_182689	NP_872631	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 2, mRNA.	83					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCTGAGGGCCCCGAGACGTT	0.642000														36			7		0	0	0.029380	0	0
PTCRA	171558	broad.mit.edu	37	6	42892001	42892001	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:42892001G>A	uc021yzp.1	+	2	495	c.414G>A	c.(412-414)gaG>gaA	p.E138E	PTCRA_uc010jxx.1_Missense_Mutation_p.S99N|PTCRA_uc010jxy.3_Silent_p.E113E|PTCRA_uc003osx.3_Silent_p.E138E|PTCRA_uc010jxz.3_Silent_p.E31E	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	138						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCCCCAGGAGCCTCTCAGGG	0.642000														63			24		0	0	0.083992	0	0
ATP7B	540	broad.mit.edu	37	13	52548143	52548143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:52548143G>A	uc001vfw.2	-	1	1370	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	ATP7B_uc001vfy.2_Missense_Mutation_p.P294S|ATP7B_uc010adv.2_Missense_Mutation_p.P405S|ATP7B_uc001vfx.2_Missense_Mutation_p.P405S|ATP7B_uc010tgt.1_Missense_Mutation_p.P405S|ATP7B_uc010tgu.1_Missense_Mutation_p.P405S|ATP7B_uc010tgv.1_Missense_Mutation_p.P405S|ATP7B_uc010tgw.1_Missense_Mutation_p.P373S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	405	HMA 4.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATTACAGAGGGATTATAAAGA	0.473000									Wilson disease					78			37		0	0	0.064281	0	0
TNR	7143	broad.mit.edu	37	1	175325460	175325460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:175325460G>A	uc001gkp.1	-	13	3194	c.3113C>T	c.(3112-3114)tCt>tTt	p.S1038F	TNR_uc009wwu.1_Missense_Mutation_p.S1038F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1038	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S1038S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCACGAGTAGAAAAGTTGGT	0.483000														65			51		0	0	0.048971	0	0
MEGF11	84465	broad.mit.edu	37	15	66207909	66207909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:66207909C>T	uc002apm.2	-	18	2513	c.2372G>A	c.(2371-2373)gGg>gAg	p.G791E	MEGF11_uc002apl.2_Missense_Mutation_p.G716E|MEGF11_uc002apn.1_Missense_Mutation_p.G791E	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	791	EGF-like 14.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGCTGACACCCATAGCCAAA	0.537000														39			10		0	0	0.069234	0	0
PC	5091	broad.mit.edu	37	11	66639329	66639329	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:66639329G>A	uc001ojn.1	-	2	199	c.150C>T	c.(148-150)atC>atT	p.I50I	PC_uc001ojo.1_Silent_p.I50I|PC_uc001ojp.1_Silent_p.I50I	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	50	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGAACACACGGATGGCAATCT	0.582000														15			6		0	0	0.029380	0	0
HTT	3064	broad.mit.edu	37	4	3234954	3234955	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:3234954_3234955CC>TT	uc021xkv.1	+	60	8475_8476	c.8330_8331CC>TT	c.(8329-8331)ccc>cTT	p.P2777L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2777					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCACCTGCCCAGCAGGGTTG	0.639000														98			70		0	0	0.004672	0	0
ODZ4	26011	broad.mit.edu	37	11	78387364	78387364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:78387364C>T	uc001ozl.4	-	29	5792	c.5329G>A	c.(5329-5331)Gag>Aag	p.E1777K	ODZ4_uc001ozk.4_Missense_Mutation_p.E2K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1777					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						AGCGCCACCTCCATGCCGTTG	0.627000														30			15		0	0	0.033300	0	0
TRPM8	79054	broad.mit.edu	37	2	234854559	234854559	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:234854559G>A	uc002vvh.3	+	6	799	c.759G>A	c.(757-759)ctG>ctA	p.L253L	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	253						integral to membrane		p.L253M(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTATATCCTGGACAACAACC	0.438000														53			36		0	0	0.080422	0	0
DCAF6	55827	broad.mit.edu	37	1	167960470	167960470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:167960470C>T	uc001gew.3	+	5	934	c.581C>T	c.(580-582)gCc>gTc	p.A194V	DCAF6_uc001gex.3_Missense_Mutation_p.A194V|DCAF6_uc010plk.2_Missense_Mutation_p.A163V|DCAF6_uc001gev.3_Missense_Mutation_p.A194V|DCAF6_uc001gey.3_Missense_Mutation_p.A47V	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	194					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CGACGTGCTGCCACGTCTGTT	0.363000														49			12		0	0	0.024245	0	0
KCNG1	3755	broad.mit.edu	37	20	49626572	49626572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:49626572G>A	uc002xwa.4	-	1	599	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	KCNG1_uc002xwb.3_Missense_Mutation_p.L102F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	102						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CACACGTTGAGGATGTCGTCG	0.632000														42			27		0	0	0.091800	0	0
ATG16L2	89849	broad.mit.edu	37	11	72539461	72539461	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:72539461C>T	uc001otd.3	+	14	1570	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	ATG16L2_uc001ote.3_Silent_p.L404L|ATG16L2_uc009ytj.2_Nonsense_Mutation_p.Q126*	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	510					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCCTGAGCCTCAGCCACGACC	0.617000														346			182		0	0	0.048971	0	0
E2F2	1870	broad.mit.edu	37	1	23850887	23850887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:23850887G>A	uc001bhe.2	-	1	773	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	AX748204_uc001bhf.1_5'Flank	NM_004091	NP_004082	Q14209	E2F2_HUMAN	Homo sapiens E2F transcription factor 2 (E2F2), mRNA.	116					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTGGGGCTGGGGAGGCCATCC	0.612000														31			15		0	0	0.020292	0	0
VPS13D	55187	broad.mit.edu	37	1	12433865	12433865	+	Silent	SNP	C	T	T	rs145410334		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:12433865C>T	uc001atv.3	+	54	11010	c.10869C>T	c.(10867-10869)ctC>ctT	p.L3623L	VPS13D_uc001atw.3_Silent_p.L3598L|VPS13D_uc001atx.3_Silent_p.L2810L|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3622					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)		GTGCGGAGCTCGTTTTGGATG	0.383000														55			6		0	0	0.038147	0	0
SEPT11	55752	broad.mit.edu	37	4	77941743	77941743	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:77941743C>T	uc011cca.2	+	8	1255	c.903C>T	c.(901-903)acC>acT	p.T301T	SEPT11_uc010ijh.1_Silent_p.T283T|SEPT11_uc003hkj.3_Silent_p.T291T|SEPT11_uc003hkk.1_Silent_p.T91T			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	291					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGACTCACACCCGCCACTATG	0.478000														23			24		0	0	0.091800	0	0
FLRT1	23769	broad.mit.edu	37	11	63885726	63885726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:63885726G>A	uc021qks.1	+	0	1987	c.1987G>A	c.(1987-1989)Gac>Aac	p.D663N	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D663N	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	635					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GGGCTACCGGGACGGCGGCAT	0.647000														35			29		0	0	0.045705	0	0
MX2	4600	broad.mit.edu	37	21	42762624	42762624	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:42762624A>G	uc002yzf.1	+	5	969	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_Missense_Mutation_p.T12A	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	289					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGGGGACAGGACCATCGGTAA	0.607000														48			20		0	0	0.043863	0	0
DNAH3	55567	broad.mit.edu	37	16	20976119	20976119	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:20976119C>T	uc010vbe.2	-	52	9087	c.9087G>A	c.(9085-9087)aaG>aaA	p.K3029K	DNAH3_uc010vbd.2_Silent_p.K464K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3029					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGACCTTGTCCTTACATTCAG	0.527000														23			22		0	0	0.076483	0	0
PIAS4	51588	broad.mit.edu	37	19	4024107	4024107	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:4024107C>T	uc002lzg.3	+	2	538	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	176	PINIT.				Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTTGATCCGGAACTCCA	0.637000														44			7		0	0	0.029380	0	0
A1CF	29974	broad.mit.edu	37	10	52603813	52603813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:52603813C>T	uc001jjj.3	-	3	357	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	A1CF_uc010qho.2_Missense_Mutation_p.E65K|A1CF_uc010qhn.2_Missense_Mutation_p.E65K|A1CF_uc009xov.3_Missense_Mutation_p.E57K|A1CF_uc001jji.3_Missense_Mutation_p.E57K|A1CF_uc001jjh.3_Missense_Mutation_p.E65K|A1CF_uc001jjk.1_Missense_Mutation_p.E57K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	57	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATAAAAATTTCACAGCCCCTT	0.428000														39			46		0	0	0.039052	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880226	42880226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:42880226G>A	uc001chi.2	+	4	895	c.757G>A	c.(757-759)Ggc>Agc	p.G253S		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	253	ATP-grasp.				protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAACATCCTAGGCATGGACTT	0.517000														177			135		0	0	0.048971	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997535	38997535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:38997535C>T	uc011aej.1	-	3	1251	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E400K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	400					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TTCTTTTCTTCCTCTTCAGTC	0.498000														123			35		0	0	0.064281	0	0
X97876	0	broad.mit.edu	37	9	66499793	66499794	+	Missense_Mutation	DNP	GC	AT	AT	rs138477209	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:66499793_66499794GC>AT	uc004aee.1	+	0	603_604	c.603_604GC>AT	c.(601-606)tcgcgc>tcATgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGTGCAAGTCGCGCAAGGAGCA	0.584000														23			6		0	0	0.004672	0	0
CCDC97	90324	broad.mit.edu	37	19	41822684	41822684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:41822684C>T	uc002oqg.3	+	1	564	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C		NM_052848	NP_443080	Q96F63	CCD97_HUMAN	Homo sapiens coiled-coil domain containing 97 (CCDC97), mRNA.	148										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						TGCCCGGCCCCGCACCCTGCG	0.677000														37			29		0	0	0.064281	0	0
CACNA1A	773	broad.mit.edu	37	19	13325352	13325352	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:13325352G>A	uc002mwy.3	-	38	6038	c.5802C>T	c.(5800-5802)tcC>tcT	p.S1934S	CACNA1A_uc002mwx.3_Silent_p.S640S|CACNA1A_uc010dzc.2_Silent_p.S1460S|CACNA1A_uc010xnd.2_Silent_p.S1937S|CACNA1A_uc021ups.1_Silent_p.S1934S|CACNA1A_uc010xne.2_Silent_p.S1937S|CACNA1A_uc010dze.2_Silent_p.S1934S|CACNA1A_uc021upt.1_Silent_p.S1935S|CACNA1A_uc002mwv.3_Silent_p.S451S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1935					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGTCTTCTGGGACAGATTGG	0.582000														15			12		0	0	0.024245	0	0
SATB2	23314	broad.mit.edu	37	2	200213619	200213619	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:200213619G>A	uc002uuy.2	-	6	1795	c.978C>T	c.(976-978)ctC>ctT	p.L326L	SATB2_uc010fsq.2_Silent_p.L208L|SATB2_uc002uva.2_Silent_p.L326L|SATB2_uc002uuz.2_Silent_p.L326L|SATB2_uc002uvb.1_Silent_p.L69L	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	326						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTGAGCCAGGAGCCGGCTAA	0.532000														61			47		0	0	0.048971	0	0
PRIC285	85441	broad.mit.edu	37	20	62195584	62195584	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:62195584G>A	uc002yfm.2	-	8	5483	c.4591C>T	c.(4591-4593)Cag>Tag	p.Q1531*	PRIC285_uc002yfl.1_Nonsense_Mutation_p.Q962*	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1531					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CTATTAAACTGAATCATGTAC	0.652000														37			5		0	0	0.029380	0	0
OR2W3	343171	broad.mit.edu	37	1	248058924	248058924	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:248058924C>T	uc010pzb.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F	OR2W3_uc001idp.1_Silent_p.F12F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAACCCATTTCATCCTACTGG	0.468000														24			16		0	0	0.033300	0	0
RTBDN	83546	broad.mit.edu	37	19	12936603	12936603	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:12936603A>C	uc002mvj.3	-	6	1021	c.703T>G	c.(703-705)Tcc>Gcc	p.S235A	RTBDN_uc002mvh.1_3'UTR|RTBDN_uc002mvi.3_Missense_Mutation_p.S203A|RTBDN_uc021upo.1_Missense_Mutation_p.S213A	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	203						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GAACGCCGGGAGGGAGCTTCC	0.711000											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			9		0	0	0.047766	0	0
TEX34	124783	broad.mit.edu	37	17	43332509	43332509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:43332509G>A	uc002iis.1	-	3	1136	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.S326F	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	347																	CAGCAGAGGGGACGTGGCTGG	0.587000														18			23		0	0	0.076483	0	0
GPR158	57512	broad.mit.edu	37	10	25861749	25861749	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:25861749G>A	uc001isj.3	+	6	1746	c.1686G>A	c.(1684-1686)ggG>ggA	p.G562G		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	562						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G562R(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGCCAGGGGAAAACATCCG	0.443000														16			17		0	0	0.038395	0	0
FAM135B	51059	broad.mit.edu	37	8	139165175	139165175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:139165175C>T	uc003yuy.3	-	12	1714	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	FAM135B_uc003yux.3_Missense_Mutation_p.E416K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E77K|FAM135B_uc003yvb.3_Missense_Mutation_p.E77K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	515										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATTCATCTTCAGGCACACCT	0.463000										HNSCC(54;0.14)				71			58		0	0	0.048971	0	0
MYCBP2	23077	broad.mit.edu	37	13	77663163	77663163	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:77663163A>G	uc021rks.1	-	60	10796	c.10529T>C	c.(10528-10530)gTt>gCt	p.V3510A	MYCBP2_uc010aev.3_Missense_Mutation_p.V2876A|MYCBP2_uc001vke.3_Missense_Mutation_p.V92A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGAAGAACCAACTTCTATTAA	0.348000														33			12		0	0	0.080935	0	0
ADCY1	107	broad.mit.edu	37	7	45717819	45717819	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:45717819C>T	uc003tne.4	+	9	1873	c.1855C>T	c.(1855-1857)Ctg>Ttg	p.L619L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	619					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACCCTCATCCTGGCTGCCTT	0.507000														149			77		0	0	0.048971	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409725	80409725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:80409725G>A	uc003kha.2	+	14	2506	c.2456G>A	c.(2455-2457)cGa>cAa	p.R819Q	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	819					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R819*(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGCTAAAACGAAGTATTCAA	0.488000														31			15		0	0	0.033300	0	0
MC3R	4159	broad.mit.edu	37	20	54824490	54824490	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:54824490C>T	uc002xxb.2	+	0	703	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	234					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCATGTTCTTCGCCATGATGC	0.587000														51			105		0	0	0.048971	0	0
CASR	846	broad.mit.edu	37	3	121980842	121980842	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:121980842C>T	uc003eew.4	+	3	1398	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_uc003eev.4_Silent_p.F320F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	320					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCATTGGATTCGCTCTGAAGG	0.577000														44			26		0	0	0.099896	0	0
EXTL3	2137	broad.mit.edu	37	8	28574495	28574495	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:28574495C>T	uc003xgz.1	+	2	1512	c.919C>T	c.(919-921)Cag>Tag	p.Q307*		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	307						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTACACTGTCCAGTACAGACC	0.522000														25			19		0	0	0.043863	0	0
ANO2	57101	broad.mit.edu	37	12	5672545	5672545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:5672545G>A	uc001qnm.2	-	25	2989	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	978						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGCTGCCCGGCTCCTGCTT	0.572000														4			4		0	0	0.009096	0	0
FER1L6	654463	broad.mit.edu	37	8	125052191	125052191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:125052191G>A	uc003yqw.3	+	19	2739	c.2533G>A	c.(2533-2535)Gga>Aga	p.G845R	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	845	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGACAGCAATGGACTTTCAGA	0.522000														73			49		0	0	0.048971	0	0
KIF5A	3798	broad.mit.edu	37	12	57972125	57972125	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:57972125G>A	uc001sor.1	+	23	2746	c.2538_splice	c.e23+1	p.Q846_splice	KIF5A_uc010srr.1_Splice_Site_p.Q757_splice	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	846					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTCACAAACAGGTAAGAGTCT	0.468000														53			26		0	0	0.091800	0	0
CASP7	840	broad.mit.edu	37	10	115480927	115480927	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:115480927G>A	uc001lan.3	+	3	421	c.247_splice	c.e3+1	p.G83_splice	CASP7_uc001lam.3_Splice_Site_p.G83_splice|CASP7_uc001lao.3_Splice_Site_p.G116_splice|CASP7_uc001lap.3_Splice_Site_p.G83_splice|CASP7_uc001laq.3_Splice_Site_p.G83_splice|CASP7_uc010qsa.2_Splice_Site_p.G168_splice|CASP7_uc010qsb.2_Splice_Site_p.G58_splice	NM_033339	NP_203125	P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA.	83					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TAAAGTGACAGGTGGGTGTGT	0.448000														24			19		0	0	0.049695	0	0
CACNA1E	777	broad.mit.edu	37	1	181741343	181741343	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:181741343C>T	uc009wxt.3	+	36	5310	c.5115C>T	c.(5113-5115)tcC>tcT	p.S1705S	CACNA1E_uc001gow.3_Silent_p.S1705S|CACNA1E_uc009wxs.3_Silent_p.S1686S|CACNA1E_uc001gox.1_Silent_p.S931S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1705					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTTTGTCTCCTTCATCTTCT	0.552000														56			48		0	0	0.048971	0	0
SYT1	6857	broad.mit.edu	37	12	79693241	79693241	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:79693241C>T	uc001sys.3	+	8	1391	c.720C>T	c.(718-720)atC>atT	p.I240I	SYT1_uc001syt.3_Silent_p.I240I|SYT1_uc001syu.3_Silent_p.I237I|SYT1_uc001syv.3_Silent_p.I240I	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	240	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGCATGACATCATTGGAGAAT	0.413000														55			37		0	0	0.069456	0	0
HNF4G	3174	broad.mit.edu	37	8	76465340	76465340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:76465340G>A	uc003yaq.3	+	5	682	c.412G>A	c.(412-414)Gat>Aat	p.D138N	HNF4G_uc003yar.3_Missense_Mutation_p.D175N	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	138					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G137C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGTATTGGTGATGTCTGTGA	0.363000														51			25		0	0	0.091800	0	0
BRD8	10902	broad.mit.edu	37	5	137500047	137500047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:137500047G>A	uc003lcf.1	-	12	1842	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	BRD8_uc011cyl.2_Missense_Mutation_p.P375L|BRD8_uc021yea.1_Missense_Mutation_p.P486L|BRD8_uc003lcg.3_Missense_Mutation_p.P669L|BRD8_uc003lci.3_Missense_Mutation_p.P599L|BRD8_uc011cym.2_Missense_Mutation_p.P580L|BRD8_uc011cyn.1_Missense_Mutation_p.P555L	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	596					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCTCTAAAGGATCTTCAAT	0.423000														50			30		0	0	0.064281	0	0
MYO1B	4430	broad.mit.edu	37	2	192194745	192194745	+	Silent	SNP	A	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:192194745A>C	uc010fsg.2	+	3	591	c.336A>C	c.(334-336)gcA>gcC	p.A112A	MYO1B_uc002usq.2_Silent_p.A112A|MYO1B_uc002usr.2_Silent_p.A112A|MYO1B_uc002uss.1_Silent_p.A112A	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	112	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAGTGGAGCAGGAAAAACAG	0.473000														135			40		0	0	0.086207	0	0
PDILT	204474	broad.mit.edu	37	16	20381012	20381012	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:20381012C>T	uc002dhc.1	-	8	1142	c.919_splice	c.e8-1	p.I307_splice		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	307					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGAAAAGGATCTGCCAAAGAA	0.488000														52			53		0	0	0.048971	0	0
WDR83	84292	broad.mit.edu	37	19	12780853	12780853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:12780853C>T	uc002mue.4	+	3	511	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	WDR83_uc002muc.3_Non-coding_Transcript|WDR83OS_uc002mud.2_5'Flank|WDR83_uc010dyw.3_Missense_Mutation_p.R56W	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.	56					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						GAACCCGCTTCGGGGGACGCT	0.677000														32			39		0	0	0.069456	0	0
CBX7	23492	broad.mit.edu	37	22	39530535	39530535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:39530535G>A	uc003axb.3	-	4	558	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S	CBX7_uc003axc.3_Intron	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	157					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CCGCGGGGCGGGAACTTCTTG	0.697000														5			15		0	0	0.024245	0	0
CHD2	1106	broad.mit.edu	37	15	93444508	93444508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:93444508C>T	uc002bsp.3	+	1	616	c.41C>T	c.(40-42)tCg>tTg	p.S14L	CHD2_uc002bsm.2_Missense_Mutation_p.S14L|CHD2_uc002bsn.3_Missense_Mutation_p.S14L|CHD2_uc002bso.1_Missense_Mutation_p.S14L	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	14	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGGACAGTTCGCTACACAGC	0.403000														11			3		0	0	0.004672	0	0
OR4C15	81309	broad.mit.edu	37	11	55322011	55322011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:55322011G>A	uc010rig.2	+	0	229	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAATGTTCAGGAAATAGTATT	0.418000										HNSCC(20;0.049)				106			55		0	0	0.048971	0	0
SCTR	6344	broad.mit.edu	37	2	120221753	120221753	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:120221753G>A	uc002tma.3	-	5	808	c.582C>T	c.(580-582)atC>atT	p.I194I	SCTR_uc002tlz.3_Silent_p.I16I	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	194					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CGGCGTCCTTGATGAAGTTGG	0.572000														68			20		0	0	0.043863	0	0
PCLO	27445	broad.mit.edu	37	7	82785457	82785457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:82785457G>A	uc003uhx.2	-	1	789	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PCLO_uc003uhv.2_Missense_Mutation_p.S167F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	167					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACAACAGAGGAAACAGCACT	0.403000														50			32		0	0	0.041601	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926559	130926559	+	Silent	SNP	G	A	A	rs140257980	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:130926559G>A	uc001uil.2	-	7	1503	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	RIMBP2_uc001uim.3_Silent_p.F337F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	429	Fibronectin type-III 2.					cell junction|synapse		p.E428Q(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGACGATGTCGAACTCCTCCT	0.562000														47			15		0	0	0.033300	0	0
C19orf59	199675	broad.mit.edu	37	19	7743386	7743386	+	Missense_Mutation	SNP	C	T	T	rs139191722		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:7743386C>T	uc002mhh.1	+	4	408	c.383C>T	c.(382-384)tCc>tTc	p.S128F	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	Homo sapiens chromosome 19 open reading frame 59 (C19orf59), mRNA.	128						integral to membrane		p.S128F(2)		endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GTCTCAAACTCCGTACAAGCA	0.547000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			14		0	0	0.105934	0	0
CHD2	1106	broad.mit.edu	37	15	93543829	93543829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:93543829C>T	uc002bsp.3	+	31	4671	c.4096C>T	c.(4096-4098)Cct>Tct	p.P1366S	CHD2_uc002bso.1_Missense_Mutation_p.P1366S	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1366					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCTTTCATCTCCTAGGCATTC	0.423000														59			34		0	0	0.086207	0	0
NRF1	4899	broad.mit.edu	37	7	129348999	129348999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:129348999C>T	uc003vpa.3	+	5	811	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	NRF1_uc003voz.3_Missense_Mutation_p.P231S|NRF1_uc011kpa.2_Missense_Mutation_p.P70S|NRF1_uc003vpb.3_Missense_Mutation_p.P231S	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	231					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AAGCTGCAAGCCCATCTGGTG	0.547000														157			96		0	0	0.048971	0	0
RIMBP2	23504	broad.mit.edu	37	12	130941179	130941179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:130941179C>T	uc001uil.2	-	3	385	c.169G>A	c.(169-171)Gac>Aac	p.D57N	RIMBP2_uc001uim.3_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	57						cell junction|synapse		p.R56W(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTCTCCAGGTCCCGGGACAGC	0.632000														13			9		0	0	0.080935	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693133	187693133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:187693133G>A	uc002upu.1	-	8	1520	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	494					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGATACCTGGGAAAATGTTGG	0.318000														31			21		0	0	0.055883	0	0
MUC21	394263	broad.mit.edu	37	6	30955194	30955194	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:30955194C>T	uc003nsh.2	+	1	1493	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.S398S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	414	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCACAGTGTCCAGTGGGGCCA	0.627000														133			90		0	0	0.048971	0	0
ATP2A1	487	broad.mit.edu	37	16	28895898	28895898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:28895898G>A	uc002dro.1	+	5	650	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.G156R|ATP2A1_uc002drp.1_Missense_Mutation_p.G31R	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	156					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTCCACAGTGGGGGACAAAGT	0.537000														15			21		0	0	0.069288	0	0
FCRL5	83416	broad.mit.edu	37	1	157494247	157494247	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:157494247G>A	uc009wsm.3	-	9	2219	c.2061C>T	c.(2059-2061)tcC>tcT	p.S687S	FCRL5_uc001fqu.3_Silent_p.S687S|FCRL5_uc010phv.1_Silent_p.S687S|FCRL5_uc010phw.1_Silent_p.S602S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	687	Ig-like C2-type 7.		S -> C (in a breast cancer sample; somatic mutation).			integral to membrane|plasma membrane	receptor activity	p.S687C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACAGGATTGGGGAGGAGCCTC	0.582000														62			16		0	0	0.033300	0	0
PLS1	5357	broad.mit.edu	37	3	142403191	142403191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:142403191C>T	uc010huv.3	+	7	1001	c.842C>T	c.(841-843)aCc>aTc	p.T281I	PLS1_uc003euz.3_Missense_Mutation_p.T281I|PLS1_uc003eva.3_Missense_Mutation_p.T281I	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	281	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TACCATCTGACCAATGCAGGA	0.408000														30			31		0	0	0.050027	0	0
OR13C8	138802	broad.mit.edu	37	9	107331452	107331452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:107331452G>A	uc011lvo.2	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATGTAATATGGAAAGGACCAA	0.393000														17			41		0	0	0.092188	0	0
RNF13	11342	broad.mit.edu	37	3	149629785	149629785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:149629785C>T	uc003exn.4	+	7	1305	c.521C>T	c.(520-522)cCa>cTa	p.P174L	RNF13_uc003exp.4_Missense_Mutation_p.P174L|RNF13_uc010hvh.3_Missense_Mutation_p.P55L	NM_007282	NP_899237	O43567	RNF13_HUMAN	Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.	174					protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCTTAGTTCCAGAATTTAGT	0.318000														58			32		0	0	0.045705	0	0
LDB3	11155	broad.mit.edu	37	10	88451795	88451795	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:88451795C>T	uc001kdv.3	+	4	855	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	LDB3_uc010qml.1_Silent_p.L278L|LDB3_uc010qmm.2_Silent_p.L346L|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Silent_p.L231L|LDB3_uc001kdr.3_Silent_p.L231L|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Silent_p.L346L|LDB3_uc001kds.3_Silent_p.L278L	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	278						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTTCCGCATCCTGGCCCAGAT	0.617000														16			15		0	0	0.020292	0	0
GABRG1	2565	broad.mit.edu	37	4	46066480	46066480	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:46066480G>A	uc003gxb.3	-	4	755	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	201					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S201S(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCAGTGGACAGGAATGTTCAT	0.269000														68			59		0	0	0.048971	0	0
BNC2	54796	broad.mit.edu	37	9	16552649	16552649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:16552649G>A	uc003zml.3	-	4	688	c.548C>T	c.(547-549)cCt>cTt	p.P183L	BNC2_uc011lmw.2_Missense_Mutation_p.P88L|BNC2_uc003zmm.3_Missense_Mutation_p.P141L|BNC2_uc003zmq.1_Missense_Mutation_p.P197L|BNC2_uc003zmr.1_Missense_Mutation_p.P220L|BNC2_uc003zmp.1_Missense_Mutation_p.P211L|BNC2_uc010mij.1_Missense_Mutation_p.P105L|BNC2_uc011lmv.2_Missense_Mutation_p.P9L|BNC2_uc003zmo.1_Missense_Mutation_p.P105L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TAGCCGCACAGGCACTGCTTG	0.567000														35			17		0	0	0.049695	0	0
PCLO	27445	broad.mit.edu	37	7	82582113	82582113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:82582113C>T	uc003uhx.2	-	4	8445	c.8156G>A	c.(8155-8157)gGa>gAa	p.G2719E	PCLO_uc003uhv.2_Missense_Mutation_p.G2719E|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2650					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCAATTTTCCATCTTCTTT	0.373000														29			14		0	0	0.020292	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961104	143961104	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:143961104G>A	uc010mey.3	-	0	133	c.126C>T	c.(124-126)ccC>ccT	p.P42P	CYP11B1_uc003yxi.3_Silent_p.P42P|CYP11B1_uc003yxj.3_Silent_p.P42P	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42			P -> S (in AH4; non-classic).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTGGACGCCGGGGCATGGCTT	0.637000									Familial Hyperaldosteronism type I					54			30		0	0	0.050027	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093715	69093715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:69093715C>T	uc003hdw.4	-	9	1301	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	389	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCACATCCATCACCCCAGCTT	0.383000														38			21		0	0	0.049695	0	0
ZNF552	79818	broad.mit.edu	37	19	58319784	58319784	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:58319784A>C	uc002qqg.3	-	2	1018	c.848T>G	c.(847-849)cTc>cGc	p.L283R	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Missense_Mutation_p.L279R	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	Homo sapiens zinc finger protein 552 (ZNF552), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGTACAAGGAGGTGGGACTT	0.408000														37			12		0	0	0.105934	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967565	48967565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:48967565C>T	uc002pje.1	+	2	1247	c.842C>T	c.(841-843)gCc>gTc	p.A281V	KCNJ14_uc002pjf.1_Missense_Mutation_p.A281V	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	281						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		ATCGACTCTGCCAGTCCTCTG	0.582000														6			9		0	0	0.047766	0	0
TRPS1	7227	broad.mit.edu	37	8	116617158	116617158	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:116617158G>T	uc003yny.3	-	3	1616	c.1038C>A	c.(1036-1038)ttC>ttA	p.F346L	TRPS1_uc011lhy.2_Missense_Mutation_p.F337L|TRPS1_uc003ynz.3_Missense_Mutation_p.F333L|TRPS1_uc010mcy.3_Missense_Mutation_p.F333L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	333					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTTACAGCGGAAATACTTGG	0.408000									Langer-Giedion syndrome					54			39		3.76114e-14	3.83686e-14	0.069456	1	0
DNAH6	1768	broad.mit.edu	37	2	84784977	84784977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:84784977G>A	uc010fgb.3	+	10	1858	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	DNAH6_uc002soo.3_Missense_Mutation_p.G153E|DNAH6_uc002sop.3_Missense_Mutation_p.G153E	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	574	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAACTTGAAGGAAAAACCTGT	0.358000														43			47		0	0	0.042209	0	0
ATP12A	479	broad.mit.edu	37	13	25274961	25274961	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:25274961G>A	uc010aaa.3	+	12	2133	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	ATP12A_uc001upp.3_Silent_p.P594P	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	594					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGAACTTTCCGACCTCCAACC	0.493000														54			30		0	0	0.037714	0	0
CCDC30	728621	broad.mit.edu	37	1	43108203	43108203	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:43108203G>A	uc009vwk.1	+	11	1808	c.1698G>A	c.(1696-1698)agG>agA	p.R566R	CCDC30_uc001chm.2_Silent_p.R264R|CCDC30_uc001chn.2_Silent_p.R355R	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	566										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TAGAAAAAAGGAAACTTCAGG	0.463000														153			75		0	0	0.048971	0	0
PLXNA2	5362	broad.mit.edu	37	1	208234099	208234099	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:208234099G>A	uc001hgz.3	-	12	3428	c.2670C>T	c.(2668-2670)atC>atT	p.I890I		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	890	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CATGGTGGGCGATCTCGGAGA	0.627000														37			32		0	0	0.041601	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365360	7365360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7365360G>A	uc002ghc.4	-	3	3191	c.2941C>T	c.(2941-2943)Cca>Tca	p.P981S	ZBTB4_uc002ghd.4_Missense_Mutation_p.P981S	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	981					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGTGTTGGTGGGGCAGGGGGT	0.602000														110			55		0	0	0.048971	0	0
C3P1	388503	broad.mit.edu	37	19	10157839	10157839	+	RNA	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:10157839C>T	uc010dwx.2	+	9		c.1390C>T								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GTGCCAGATTCCATCACCACG	0.537000														188			203		0	0	0.048971	0	0
PRKCB	5579	broad.mit.edu	37	16	24104162	24104162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:24104162C>T	uc002dmd.3	+	5	777	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	PRKCB_uc002dme.3_Missense_Mutation_p.P194S	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	194	C2.				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)	CCTGTCAGATCCCTACGTAAA	0.408000														84			22		0	0	0.083992	0	0
DTL	51514	broad.mit.edu	37	1	212274371	212274371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:212274371C>T	uc009xdc.3	+	13	2353	c.2039C>T	c.(2038-2040)cCg>cTg	p.P680L	DTL_uc010ptb.2_Missense_Mutation_p.P638L|DTL_uc001hiz.4_Missense_Mutation_p.P409L	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	680					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCACGAAGTCCGTCATCCCAG	0.483000														34			11		0	0	0.069234	0	0
FAM71B	153745	broad.mit.edu	37	5	156592849	156592849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:156592849G>A	uc003lwn.3	-	0	431	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	111						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGGGCCTGCGACCTCTCCCC	0.542000														298			336		0	0	0.048971	0	0
FOXA3	3171	broad.mit.edu	37	19	46376133	46376133	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:46376133G>A	uc002pdr.3	+	1	1067	c.870G>A	c.(868-870)ggG>ggA	p.G290G		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	290					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.P289P(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AGCTCCCAGGGGAGCTGAAGC	0.607000														31			23		0	0	0.076483	0	0
FBXL7	23194	broad.mit.edu	37	5	15928474	15928474	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:15928474C>T	uc003jfn.1	+	2	1084	c.603C>T	c.(601-603)gaC>gaT	p.D201D		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	201					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGCTCACAGACCGAGGGCTGT	0.597000														25			8		0	0	0.047766	0	0
SI	6476	broad.mit.edu	37	3	164785137	164785137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:164785137C>T	uc003fei.3	-	5	689	c.626G>A	c.(625-627)gGt>gAt	p.G209D		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	209	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAGTTTTACCGTTGCTTTT	0.289000										HNSCC(35;0.089)				32			24		0	0	0.076483	0	0
SLIT3	6586	broad.mit.edu	37	5	168620509	168620509	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:168620509G>A	uc010jjg.3	-	3	807	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SLIT3_uc003mab.3_Silent_p.F129F|SLIT3_uc010jji.2_Silent_p.F129F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	129					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTGCTCTGGAAAAGCAATT	0.493000														55			51		0	0	0.048971	0	0
LYZL6	57151	broad.mit.edu	37	17	34263791	34263791	+	Silent	SNP	C	T	T	rs9604		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:34263791C>T	uc002hkj.2	-	2	545	c.345G>A	c.(343-345)agG>agA	p.R115R	LYZL6_uc002hkk.2_Silent_p.R115R	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	115					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGACACAATCCTTTTTGCGC	0.562000														29			33		0	0	0.098360	0	0
CTIF	9811	broad.mit.edu	37	18	46284619	46284619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:46284619C>T	uc002ldd.3	+	8	1273	c.914C>T	c.(913-915)cCg>cTg	p.P305L	CTIF_uc002ldc.3_Missense_Mutation_p.P305L|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	305	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						ACCCTGGCCCCGGTGGCTTCT	0.637000														28			61		0	0	0.048971	0	0
ESPN	83715	broad.mit.edu	37	1	6488420	6488420	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:6488420C>T	uc001amy.3	+	1	597	c.429C>T	c.(427-429)caC>caT	p.H143H		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	143					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCTATCCACTACGCTGCCG	0.652000														63			48		0	0	0.048971	0	0
COL11A1	1301	broad.mit.edu	37	1	103428226	103428226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:103428226C>T	uc001dum.3	-	38	3361	c.3043G>A	c.(3043-3045)Gga>Aga	p.G1015R	COL11A1_uc001duk.3_Missense_Mutation_p.G199R|COL11A1_uc001dul.3_Missense_Mutation_p.G1003R|COL11A1_uc001dun.3_Missense_Mutation_p.G964R|COL11A1_uc009weh.3_Missense_Mutation_p.G887R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1003	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTTCTTTTCCTGCAGCACCA	0.473000														110			50		0	0	0.048971	0	0
OR51A2	401667	broad.mit.edu	37	11	4976899	4976899	+	Silent	SNP	G	A	A	rs143598087		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4976899G>A	uc010qyt.2	-	0	45	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCAACCAAGAAGAAGGTGG	0.413000														40			26		0	0	0.054565	0	0
LILRB2	10288	broad.mit.edu	37	19	54783502	54783502	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:54783502C>T	uc002qfb.3	-	5	622	c.356_splice	c.e5-1	p.G119_splice	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Splice_Site_p.G119_splice|LILRB2_uc010erj.3_Splice_Site|LILRB2_uc002qfc.3_Splice_Site_p.G119_splice|LILRB2_uc010yet.2_Splice_Site_p.G3_splice|LILRB2_uc010yeu.1_Splice_Site|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	119	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGTAGGCTCCTAGGAGAGA	0.627000														52			31		0	0	0.054565	0	0
HDLBP	3069	broad.mit.edu	37	2	242189355	242189355	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:242189355G>A	uc002waz.3	-	11	1586	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	HDLBP_uc002wba.3_Silent_p.I471I|HDLBP_uc021vzg.1_Silent_p.I438I	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	471	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGTCAGGAGGGATGCGCACGG	0.517000														54			35		0	0	0.092188	0	0
PTPRA	5786	broad.mit.edu	37	20	3002778	3002778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:3002778C>T	uc010zqd.2	+	13	1590	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	PTPRA_uc002whj.3_Missense_Mutation_p.P414S|PTPRA_uc002whk.3_Missense_Mutation_p.P405S|PTPRA_uc002whl.3_Missense_Mutation_p.P405S|PTPRA_uc002whm.3_Missense_Mutation_p.P181S|PTPRA_uc002whn.3_Missense_Mutation_p.P405S|PTPRA_uc002who.3_Missense_Mutation_p.P77S	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	414	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTTGGGGTGCCTTTTACCCC	0.562000														132			21		0	0	0.055883	0	0
ALPK3	57538	broad.mit.edu	37	15	85411399	85411399	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:85411399C>T	uc002ble.3	+	13	5603	c.5436C>T	c.(5434-5436)tcC>tcT	p.S1812S	ALPK3_uc010upc.2_Silent_p.S113S	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1812	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCGCCTCCTCCCACCAGTGCA	0.627000														99			83		0	0	0.048971	0	0
TMEM214	54867	broad.mit.edu	37	2	27263326	27263326	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:27263326C>T	uc002ria.4	+	15	2015	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	TMEM214_uc002rib.4_Silent_p.A590A	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	635						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGCTTGAGGCCCTGGCCTGGG	0.637000														31			45		0	0	0.111260	0	0
DUOX2	50506	broad.mit.edu	37	15	45392024	45392024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:45392024C>T	uc001zun.3	-	24	3454	c.3251G>A	c.(3250-3252)cGa>cAa	p.R1084Q	DUOX2_uc010bea.3_Missense_Mutation_p.R1084Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1084	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGCCGTGCCTCGTGACAGGAT	0.567000														42			28		0	0	0.037714	0	0
EXT1	2131	broad.mit.edu	37	8	118830695	118830695	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:118830695G>A	uc003yok.1	-	6	2384	c.1611C>T	c.(1609-1611)gtC>gtT	p.V537V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	537					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTTCAATGACGACGACAGGCA	0.532000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					162			44		0	0	0.048971	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164153	72164153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:72164153C>T	uc002fcc.4	-	11	1928	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	PMFBP1_uc002fcd.3_Missense_Mutation_p.D581N|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.D436N|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	586										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATTTTCATATCCTGCTCAGCC	0.473000														20			48		0	0	0.048971	0	0
OR4F6	390648	broad.mit.edu	37	15	102345964	102345964	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:102345964C>T	uc010utr.2	+	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGTTTGTGTTCCTGGGACTCT	0.478000														71			72		0	0	0.048971	0	0
EEF1A2	1917	broad.mit.edu	37	20	62122033	62122033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:62122033C>T	uc002yfe.1	-	5	994	c.828G>A	c.(826-828)atG>atA	p.M276I		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	276						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGGTCACCACCATGCCCGGCC	0.672000														83			8		0	0	0.047766	0	0
IDO2	169355	broad.mit.edu	37	8	39872860	39872860	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:39872860C>T	uc010lwy.1	+	10	1244	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Silent_p.I75I|IDO2_uc003xnp.1_Silent_p.I75I	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	321					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGGACTACATCCTGTCATCTG	0.507000														57			14		0	0	0.105934	0	0
LGR4	55366	broad.mit.edu	37	11	27400305	27400305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:27400305C>T	uc001mrj.4	-	10	1467	c.982G>A	c.(982-984)Ggt>Agt	p.G328S	LGR4_uc001mrk.4_Missense_Mutation_p.G304S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	328						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATCTTTGTACCTGTCAAAGTC	0.333000														60			27		0	0	0.108266	0	0
C11orf41	25758	broad.mit.edu	37	11	33565160	33565160	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:33565160T>A	uc021qfs.1	+	0	1284	c.1160T>A	c.(1159-1161)aTa>aAa	p.I387K	C11orf41_uc001mun.1_Missense_Mutation_p.I387K	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	387						integral to membrane		p.T386K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TCCTTAACAATAGGAGACATG	0.458000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			19		0	0	0.043863	0	0
PLCB4	5332	broad.mit.edu	37	20	9438076	9438076	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:9438076C>T	uc021wam.1	+	29	2991	c.2976C>T	c.(2974-2976)ctC>ctT	p.L992L	PLCB4_uc010gbw.1_Silent_p.L992L|PLCB4_uc010gbx.3_Silent_p.L1004L|PLCB4_uc021wal.1_Silent_p.L992L|PLCB4_uc002wnh.3_Silent_p.L839L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	992					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTAATTGTCTCGAAATGAAAA	0.368000														70			7		0	0	0.038147	0	0
GPR112	139378	broad.mit.edu	37	X	135427486	135427486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:135427486G>A	uc004ezu.1	+	5	1912	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	GPR112_uc010nsb.1_Missense_Mutation_p.E336K|GPR112_uc010nsc.1_Missense_Mutation_p.E308K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	541					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCCAGAGTGGAAGATGCCAT	0.438000														10			40		0	0	0.092188	0	0
LOC285359	285359	broad.mit.edu	37	3	101431995	101431995	+	RNA	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:101431995C>T	uc003dvj.3	+	0		c.718C>T								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		GTGTGGCACTCTGTCCTCATG	0.448000														22			9		0	0	0.058154	0	0
PTPRD	5789	broad.mit.edu	37	9	8331707	8331707	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:8331707G>A	uc003zkk.3	-	43	6152	c.5409C>T	c.(5407-5409)ttC>ttT	p.F1803F	PTPRD_uc003zkp.3_Silent_p.F1397F|PTPRD_uc003zkq.3_Silent_p.F1396F|PTPRD_uc003zkr.3_Silent_p.F1387F|PTPRD_uc003zks.3_Silent_p.F1396F|PTPRD_uc022bdj.1_Silent_p.F1393F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1803	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGTGAACTGGAACTGCCTTA	0.517000										TSP Lung(15;0.13)				16			35		0	0	0.069456	0	0
AGPAT9	84803	broad.mit.edu	37	4	84516095	84516095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:84516095G>A	uc003how.3	+	7	1054	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	AGPAT9_uc003hox.3_Missense_Mutation_p.R279Q|AGPAT9_uc003hoy.3_Missense_Mutation_p.R279Q	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	279					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	p.R279R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				ATGAAGGATCGACACCTGGTT	0.478000														81			69		0	0	0.048971	0	0
HEXDC	284004	broad.mit.edu	37	17	80382279	80382279	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:80382279C>T	uc002kev.4	+	2	510	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	HEXDC_uc002kew.3_Silent_p.L32L	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	32					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GATTTTTCCTCTGTTCCGTGC	0.572000														111			21		0	0	0.069288	0	0
DPY19L1	23333	broad.mit.edu	37	7	35009087	35009087	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:35009087G>A	uc003tem.4	-	8	898	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	251						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGGAAGCATGAAAAATACAT	0.343000														70			12		0	0	0.020292	0	0
BOD1	91272	broad.mit.edu	37	5	173036301	173036301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:173036301C>T	uc003mcq.2	-	2	726	c.499G>A	c.(499-501)Gca>Aca	p.A167T	BOD1_uc003mcr.2_Intron	NM_138369	NP_612378	Q96IK1	BOD1_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1 (BOD1), transcript variant 1, mRNA.	167					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GGAGGGGGTGCTGGCACAGCT	0.527000														94			51		0	0	0.048971	0	0
C1orf65	164127	broad.mit.edu	37	1	223567444	223567444	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:223567444C>T	uc001hoa.2	+	0	730	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	209										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCGTGTGCGCCCAGAAGAGAG	0.622000														70			37		0	0	0.111260	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001263	13001263	+	Silent	SNP	C	T	T	rs150586267		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:13001263C>T	uc001auq.2	-	2	506	c.420G>A	c.(418-420)agG>agA	p.R140R	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	140								p.P139Q(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		GTCCTCTCATCCTTGGACAGT	0.507000														751			84		0	0	0.048971	0	0
FAT3	120114	broad.mit.edu	37	11	92568068	92568068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:92568068G>A	uc001pdj.4	+	13	9921	c.9904G>A	c.(9904-9906)Gaa>Aaa	p.E3302K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3302	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGGACTATGAATTATGCAA	0.428000										TCGA Ovarian(4;0.039)				431			267		0	0	0.048971	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67858577	67858577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:67858577G>A	uc010vka.2	+	5	649	c.573G>A	c.(571-573)atG>atA	p.M191I	TSNAXIP1_uc010cep.2_Missense_Mutation_p.M1I|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.M122I|TSNAXIP1_uc002eug.4_5'UTR|TSNAXIP1_uc002euh.4_5'UTR|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Missense_Mutation_p.M137I|TSNAXIP1_uc002euk.3_5'UTR	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	137					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.R191*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TCCTGGCCATGAGAGCTGAGG	0.468000														17			17		0	0	0.033300	0	0
CCDC38	120935	broad.mit.edu	37	12	96260898	96260898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:96260898C>T	uc001tek.2	-	15	1882	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	550										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTTTTGTTTCATTGACTAAA	0.294000														37			9		0	0	0.080935	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540335	96540335	+	Silent	SNP	C	T	T	rs145272564		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:96540335C>T	uc010qnz.2	+	3	561	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CYP2C19_uc009xus.1_Silent_p.F52F|CYP2C19_uc010qny.2_Silent_p.F165F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	187					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)	AGAAACGTTTCGATTATAAAG	0.403000														35			38		0	0	0.069456	0	0
C12orf59	120939	broad.mit.edu	37	12	10339129	10339129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:10339129C>T	uc001qxr.3	+	3	865	c.248C>T	c.(247-249)cCc>cTc	p.P83L	C12orf59_uc001qxq.3_Missense_Mutation_p.P63L			Q4KMG9	CL059_HUMAN	Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA.	83						integral to membrane				large_intestine(4)|lung(4)|ovary(1)	9						GGCCCACCACCCTGTGAAGTG	0.557000														66			21		0	0	0.076483	0	0
AHRR	57491	broad.mit.edu	37	5	434306	434306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:434306C>T	uc003jav.3	+	11	1560	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	AHRR_uc003jaw.3_Missense_Mutation_p.P488L|AHRR_uc010isy.3_Missense_Mutation_p.P334L|AHRR_uc010isz.3_Missense_Mutation_p.P484L|AHRR_uc003jax.3_Missense_Mutation_p.P247L|AHRR_uc003jay.3_Missense_Mutation_p.P344L|AHRR_uc003jaz.3_Missense_Mutation_p.P105L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGCCACTTTCCCCAGAGGAGC	0.652000														10			12		0	0	0.093190	0	0
SHANK1	50944	broad.mit.edu	37	19	51220099	51220099	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:51220099G>A	uc002psx.1	-	0	97	c.78C>T	c.(76-78)tcC>tcT	p.S26S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	26					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGAGCTGTCGGACTCTGAGC	0.731000														9			3		0	0	0.014758	0	0
EPHB6	2051	broad.mit.edu	37	7	142562271	142562271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142562271C>T	uc011kst.2	+	6	1500	c.713C>T	c.(712-714)tCc>tTc	p.S238F	EPHB6_uc011ksu.2_Missense_Mutation_p.S238F|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	238	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGCTCCGATCCTTTGCTTCC	0.662000														123			81		0	0	0.048971	0	0
KCNK5	8645	broad.mit.edu	37	6	39163723	39163723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:39163723C>T	uc003oon.3	-	1	591	c.227G>A	c.(226-228)gGg>gAg	p.G76E		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	76					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGTCTGGTTCCCTGTGATGGC	0.493000														49			28		0	0	0.030593	0	0
NEU4	129807	broad.mit.edu	37	2	242758340	242758341	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:242758340_242758341GG>AA	uc002wcp.2	+	3	1954_1955	c.1460_1461GG>AA	c.(1459-1461)ggg>gAA	p.G487E	NEU4_uc010fzr.3_Missense_Mutation_p.G474E|NEU4_uc002wcm.3_Missense_Mutation_p.G474E|NEU4_uc002wco.2_Missense_Mutation_p.G474E|NEU4_uc002wcn.2_Missense_Mutation_p.G486E	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	474						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825)		CCCAACCTTGGGGACAAGCCTC	0.649000														13			15		0	0	0.004672	0	0
FAM149A	25854	broad.mit.edu	37	4	187084730	187084730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:187084730C>T	uc003iyt.4	+	9	1565	c.986C>T	c.(985-987)tCa>tTa	p.S329L	FAM149A_uc011cla.1_Missense_Mutation_p.S329L|FAM149A_uc010isl.3_Missense_Mutation_p.S329L|FAM149A_uc011clb.2_Missense_Mutation_p.S329L	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	620										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GCTTCAGATTCACAGAGACTA	0.478000														50			15		0	0	0.024245	0	0
TTC23	64927	broad.mit.edu	37	15	99678315	99678315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:99678315G>A	uc002bur.3	-	12	1775	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	TTC23_uc002bus.3_Missense_Mutation_p.S415L|TTC23_uc002but.3_Missense_Mutation_p.S415L|TTC23_uc002buu.3_Missense_Mutation_p.S415L|TTC23_uc002buv.3_Missense_Mutation_p.S415L|TTC23_uc002bux.3_Missense_Mutation_p.S415L|TTC23_uc002buw.3_Missense_Mutation_p.S415L|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.S415L|TTC23_uc010bor.3_Missense_Mutation_p.S415L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	415							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CCTTGGCTTCGAAGCAACCTT	0.642000														52			19		0	0	0.055883	0	0
MED13L	23389	broad.mit.edu	37	12	116453037	116453037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:116453037G>A	uc001tvw.3	-	7	1107	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	351					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)		TCCATCTTGGGAAACCAGGTG	0.448000														65			24		0	0	0.083992	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870980	12870980	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:12870980C>T	uc001rat.2	+	0	679	c.207C>T	c.(205-207)ccC>ccT	p.P69P		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	69			P -> L (found in a patient with multiple endocrine tumors; germline mutation; reduced expression levels; shows impaired binding to CDK2).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		ATCACAAACCCCTAGAGGGCA	0.577000														79			29		0	0	0.037714	0	0
DNAH9	1770	broad.mit.edu	37	17	11603201	11603201	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:11603201G>T	uc002gne.3	+	23	5093	c.5025_splice	c.e23+1	p.Q1675_splice	DNAH9_uc010coo.3_Splice_Site_p.Q969_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1675	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGCGGGCAGGTAACACAGTA	0.507000														13			21		1.87028e-06	1.89733e-06	0.062417	1	0
CCNT2	905	broad.mit.edu	37	2	135711716	135711716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:135711716C>T	uc002tuc.2	+	8	1724	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	CCNT2_uc010zbf.2_Missense_Mutation_p.P389L|CCNT2_uc002tub.2_Missense_Mutation_p.P564L|CCNT2_uc002tud.2_Missense_Mutation_p.P227L	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	564					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AAGGAGCATCCTTCAAGCCGC	0.527000														40			33		0	0	0.059317	0	0
LMBRD2	92255	broad.mit.edu	37	5	36117840	36117840	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:36117840G>A	uc003jkb.1	-	9	1714	c.1299C>T	c.(1297-1299)atC>atT	p.I433I		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	433						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACTGACCTCGATATAAATAT	0.333000														14			10		0	0	0.080935	0	0
MARCO	8685	broad.mit.edu	37	2	119739072	119739072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:119739072C>T	uc002tln.1	+	8	986	c.854C>T	c.(853-855)cCa>cTa	p.P285L	MARCO_uc010yyf.1_Missense_Mutation_p.P207L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	285	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCGGGAGGCCAGGCCCACCA	0.512000														12			9		0	0	0.058154	0	0
LRP1	4035	broad.mit.edu	37	12	57552254	57552254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:57552254G>A	uc001snd.3	+	10	2097	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	544					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGATATGGGGGCCAAGGTC	0.597000														21			16		0	0	0.024245	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824296	70824296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:70824296G>A	uc001svx.3	+	2	949	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	166					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCGCACTCATGATGAGATTGT	0.493000														120			36		0	0	0.069456	0	0
ASNA1	439	broad.mit.edu	37	19	12856465	12856465	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:12856465G>A	uc002muv.3	+	3	515	c.501G>A	c.(499-501)acG>acA	p.T167T		NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	167					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	TATTTGACACGGCACCCACGG	0.627000														66			17		0	0	0.038395	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														113			11		0	0	0.091800	0	0
CNTLN	54875	broad.mit.edu	37	9	17457623	17457623	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:17457623C>T	uc003zmz.2	+	18	3239	c.3213C>T	c.(3211-3213)tcC>tcT	p.S1071S	CNTLN_uc003zmy.3_Silent_p.S1072S|CNTLN_uc010mio.3_Silent_p.S751S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1072						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAAAATTCCCAGGTAACAT	0.363000														28			25		0	0	0.034045	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705455	14705455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:14705455G>A	uc010dzn.2	+	5	399	c.322G>A	c.(322-324)Gag>Aag	p.E108K	CLEC17A_uc010dzo.2_Missense_Mutation_p.E108K|CLEC17A_uc002mzh.2_Missense_Mutation_p.E91K|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Missense_Mutation_p.E108K	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	108						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AAAGGAAACAGAGAAACCCCC	0.572000														25			26		0	0	0.041601	0	0
C1orf127	148345	broad.mit.edu	37	1	11009732	11009732	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:11009732C>T	uc010oao.2	-	10	1239	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	C1orf127_uc001ars.2_Intron|C1orf127_uc001arr.2_Silent_p.Q256Q	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	264								p.E413K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AAAGCCATTCCTGGGCAGCTG	0.642000														12			7		0	0	0.038147	0	0
XKRX	402415	broad.mit.edu	37	X	100169882	100169882	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:100169882C>T	uc004egn.2	-	2	1400	c.795G>A	c.(793-795)ttG>ttA	p.L265L	XKRX_uc011mre.1_Silent_p.L61L	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	265						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCTTCAATTTCAAAGTGGCTG	0.512000														18			53		0	0	0.048971	0	0
CHD7	55636	broad.mit.edu	37	8	61748831	61748831	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:61748831C>T	uc003xue.3	+	15	4470	c.3978C>T	c.(3976-3978)ctC>ctT	p.L1326L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1326	Helicase C-terminal.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGACTACCTCATTCAAAGAC	0.463000														30			18		0	0	0.043863	0	0
CD2	914	broad.mit.edu	37	1	117311313	117311313	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:117311313C>T	uc001egu.4	+	4	993	c.964C>T	c.(964-966)Cag>Tag	p.Q322*		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	322	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACAAGTTCACCAGCAGAAAGG	0.577000														108			82		0	0	0.048971	0	0
ITGB5	3693	broad.mit.edu	37	3	124515313	124515313	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:124515313C>G	uc003eho.3	-	9	1912	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	539	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTGCCAAACTCGCTCTCGAAG	0.597000														85			51		0	0	0.048971	0	0
PLB1	151056	broad.mit.edu	37	2	28827570	28827570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:28827570G>A	uc002rmb.2	+	40	2949	c.2905G>A	c.(2905-2907)Gac>Aac	p.D969N	PLB1_uc010ezj.2_Missense_Mutation_p.D958N|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	969	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CACGCAGGAGGACTTCTCTGT	0.617000														35			14		0	0	0.020292	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879020	39879020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:39879020C>T	uc009vvt.1	+	0	3845	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	892	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			GAGCCCACCTCCCCAGCTGCT	0.726000														16			15		0	0	0.062417	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628433	173628433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:173628433G>A	uc001gja.1	-	1	186	c.125C>T	c.(124-126)cCt>cTt	p.P42L	ANKRD45_uc001gjb.4_Missense_Mutation_p.P42L	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	58	Poly-Glu.									NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TGTGAGAGCAGGTTGTAAAAG	0.448000														20			18		0	0	0.033300	0	0
CREBBP	1387	broad.mit.edu	37	16	3795308	3795308	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:3795308A>G	uc002cvv.3	-	21	4088	c.3884T>C	c.(3883-3885)gTt>gCt	p.V1295A	CREBBP_uc002cvw.3_Missense_Mutation_p.V1257A	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1295	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATAGTGCAGAACGCAAATCTG	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							25			7		0	0	0.038147	0	0
ATG2A	23130	broad.mit.edu	37	11	64677578	64677579	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:64677578_64677579GG>AA	uc001obx.3	-	12	1911_1912	c.1796_1797CC>TT	c.(1795-1797)gcc>gTT	p.A599V		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	599							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCCGGTCCAGGGCCCCCAGCTC	0.728000														24			13		0	0	0.004672	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326644	61326644	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:61326644G>A	uc002lji.3	-	3	484	c.340C>T	c.(340-342)Cta>Tta	p.L114L	SERPINB3_uc002ljg.3_Silent_p.L114L|SERPINB3_uc010dqa.3_Silent_p.L114L|SERPINB3_uc010dqb.3_Silent_p.L114L	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	114					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTAAAAATAGATACGTTTTT	0.423000														16			35		0	0	0.092188	0	0
ACSM2A	123876	broad.mit.edu	37	16	20481027	20481027	+	Silent	SNP	C	T	T	rs145878643		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:20481027C>T	uc010bwe.3	+	4	821	c.582C>T	c.(580-582)ttC>ttT	p.F194F	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.F115F|ACSM2A_uc002dhf.4_Silent_p.F194F|ACSM2A_uc002dhg.4_Silent_p.F194F|ACSM2A_uc010vay.2_Silent_p.F115F	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	194					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTGAACTTCAAGAAACTAC	0.438000														139			34		0	0	0.050027	0	0
ELANE	1991	broad.mit.edu	37	19	855770	855770	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:855770G>A	uc002lqb.3	+	3	611	c.573G>A	c.(571-573)agG>agA	p.R191R		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	191	Peptidase S1.		Missing (in GFI1).|R -> Q (in CH; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage).		cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCTCGTGAGGGGCCGGCAGG	0.677000														55			14		0	0	0.033300	0	0
GPR141	353345	broad.mit.edu	37	7	37780595	37780595	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:37780595G>A	uc003tfm.1	+	0	600	c.600G>A	c.(598-600)caG>caA	p.Q200Q	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	200						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGTCTTCCAGGTCTTCATCA	0.393000														122			59		0	0	0.048971	0	0
TMPPE	643853	broad.mit.edu	37	3	33134463	33134463	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:33134463G>T	uc003cfk.2	-	1	1437	c.1225C>A	c.(1225-1227)Ccc>Acc	p.P409T	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.P272T|TMPPE_uc021wux.1_Missense_Mutation_p.P409T	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	409						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GCAAAGAAGGGATTCAGGAGA	0.562000														56			24		2.44723e-14	2.4993e-14	0.099896	1	0
IFIH1	64135	broad.mit.edu	37	2	163133297	163133297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:163133297G>A	uc002uce.3	-	10	2426	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	735	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AATCCACTGGGAAAGCGCATA	0.413000														115			43		0	0	0.104719	0	0
FOCAD	54914	broad.mit.edu	37	9	20907175	20907175	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:20907175C>T	uc003zog.1	+	23	3015	c.2652C>T	c.(2650-2652)caC>caT	p.H884H	FOCAD_uc003zoh.1_Silent_p.H320H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	884						integral to membrane	binding										caGAGTGGCACCGTGCAATTT	0.383000														33			82		0	0	0.048971	0	0
NEIL1	79661	broad.mit.edu	37	15	75644680	75644680	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:75644680C>T	uc002bae.3	+	3	981	c.828C>T	c.(826-828)ccC>ccT	p.P276P	NEIL1_uc002bad.3_Silent_p.P190P	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	190					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGATCCCCCCCTTTGAGAAGG	0.652000								Base excision repair (BER), DNA glycosylases						73			30		0	0	0.074837	0	0
SLC6A1	6529	broad.mit.edu	37	3	11064053	11064053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:11064053G>A	uc010hdq.3	+	6	1024	c.613G>A	c.(613-615)Gat>Aat	p.D205N		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	205					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGACGGGCTGGATAAGCCAGG	0.582000														18			10		0	0	0.105934	0	0
CFH	3075	broad.mit.edu	37	1	196694292	196694292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:196694292C>T	uc001gtj.4	+	11	1978	c.1738C>T	c.(1738-1740)Cct>Tct	p.P580S	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	580	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACACTTAGTTCCTGATCGCAA	0.338000														38			10		0	0	0.058154	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797817	31797817	+	Silent	SNP	A	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:31797817A>C	uc002yob.1	-	0	414	c.414T>G	c.(412-414)ccT>ccG	p.P138P		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	138						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AACTCTGGGAAGGGGAGGTAT	0.463000														29			9		0	0	0.069234	0	0
MLPH	79083	broad.mit.edu	37	2	238419296	238419296	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:238419296T>C	uc002vwt.3	+	2	417	c.190T>C	c.(190-192)Tgc>Cgc	p.C64R	MLPH_uc002vws.3_Missense_Mutation_p.C64R|MLPH_uc010fyt.1_Missense_Mutation_p.C64R|MLPH_uc002vwu.3_Missense_Mutation_p.C64R|MLPH_uc002vwv.3_Missense_Mutation_p.C64R|MLPH_uc002vww.3_Missense_Mutation_p.C40R	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	64	RabBD.						metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGAGACCCACTGCGCCCGCTG	0.557000														27			26		0	0	0.030593	0	0
ITGB2	3689	broad.mit.edu	37	21	46309893	46309894	+	Splice_Site	DNP	CC	AT	AT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:46309893_46309894CC>AT	uc002zgd.2	-	11	1701	c.1657_splice	c.e11+1	p.G553_splice	ITGB2_uc002zgf.3_Splice_Site_p.G553_splice|ITGB2_uc011afl.1_Splice_Site_p.G475_splice|ITGB2_uc010gpw.2_Splice_Site_p.G496_splice|ITGB2_uc002zgg.2_Splice_Site_p.G553_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	553	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	ACGGGCTCACCCGGGCCGCCGC	0.639000														37			32		0	0	0.004672	0	0
RFC1	5981	broad.mit.edu	37	4	39352971	39352971	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:39352971G>A	uc003gty.2	-	1	269	c.129C>T	c.(127-129)atC>atT	p.I43I	RFC1_uc003gtx.2_Silent_p.I43I|RFC1_uc003gtz.2_5'UTR	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	43					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AACTAACCTTGATTTCCTTTA	0.249000														18			20		0	0	0.069288	0	0
PRKDC	5591	broad.mit.edu	37	8	48690306	48690306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:48690306G>A	uc003xqi.3	-	84	12037	c.11980C>T	c.(11980-11982)Cct>Tct	p.P3994S	PRKDC_uc003xqj.3_Missense_Mutation_p.P3963S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3995	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCAGGCCAGGGTCTGAGCGG	0.478000								Non-homologous end-joining						130			84		0	0	0.048971	0	0
NAV3	89795	broad.mit.edu	37	12	78513272	78513272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:78513272C>T	uc001syp.3	+	14	3469	c.3296C>T	c.(3295-3297)tCt>tTt	p.S1099F	NAV3_uc001syo.3_Missense_Mutation_p.S1099F|NAV3_uc010sub.2_Missense_Mutation_p.S599F|NAV3_uc009zsf.3_Missense_Mutation_p.S107F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1099	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCCAAAATCTGCTGCCATT	0.473000										HNSCC(70;0.22)				49			21		0	0	0.062417	0	0
CYHR1	50626	broad.mit.edu	37	8	145689869	145689869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:145689869G>A	uc003zcv.2	-	1	415	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	CYHR1_uc003zcw.2_Missense_Mutation_p.P74S|CYHR1_uc003zcx.2_Missense_Mutation_p.P74S|CYHR1_uc003zcy.2_Missense_Mutation_p.P74S|KIFC2_uc003zcz.3_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	Homo sapiens cysteine/histidine-rich 1 (CYHR1), transcript variant 1, mRNA.	74						perinuclear region of cytoplasm	zinc ion binding	p.P74S(3)		haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCAGAAGGGGAAGGCCGATG	0.662000														55			12		0	0	0.080935	0	0
C12orf63	374467	broad.mit.edu	37	12	97137662	97137662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:97137662C>T	uc021rcc.1	+	20	2884	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	936										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTGTTAACTCGGGCTCATAG	0.398000														21			12		0	0	0.093190	0	0
APLNR	187	broad.mit.edu	37	11	57003474	57003474	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:57003474G>A	uc001njo.3	-	0	1454	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	335						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCTGCTGTGGGAGGTGCCTG	0.637000														48			25		0	0	0.091800	0	0
FAM184A	79632	broad.mit.edu	37	6	119297154	119297154	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:119297154C>T	uc003pyj.3	-	11	2859	c.2511G>A	c.(2509-2511)cgG>cgA	p.R837R	FAM184A_uc003pyk.4_Silent_p.R717R|FAM184A_uc003pyl.4_Silent_p.R717R|FAM184A_uc003pyi.3_Non-coding_Transcript	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	837										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GATGATTATGCCGTAACAAAT	0.383000														13			18		0	0	0.043863	0	0
EMBP1	647121	broad.mit.edu	37	1	121306467	121306467	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:121306467G>A	uc009wht.1	+	0	44	c.15G>A	c.(13-15)gtG>gtA	p.V5V	EMBP1_uc001eiu.1_Non-coding_Transcript					Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		ATAAATATGTGATCAATGGAA	0.343000														28			35		0	0	0.069456	0	0
SPNS1	83985	broad.mit.edu	37	16	28990565	28990565	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:28990565C>T	uc010vdi.1	+	4	674	c.534C>T	c.(532-534)ctC>ctT	p.L178L	NPIPL1_uc010vct.2_Intron|SPNS1_uc002dry.2_Silent_p.L178L|SPNS1_uc002drx.2_Silent_p.L105L|SPNS1_uc002dsa.2_Silent_p.L178L|SPNS1_uc002drz.2_Silent_p.L178L|SPNS1_uc010byp.2_Silent_p.L156L	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	178					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TTGCCGACCTCTTTGTGGCCG	0.652000														89			21		0	0	0.062417	0	0
HPSE	10855	broad.mit.edu	37	4	84227368	84227368	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:84227368G>A	uc003hoj.4	-	8	1293	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	HPSE_uc003hoi.3_Silent_p.F340F|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Intron|HPSE_uc011ccs.2_Silent_p.F141F|HPSE_uc003hok.4_Silent_p.F398F|HPSE_uc011cct.2_Intron	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	398					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)	GTAAAGGATCGAAGTTTTCAT	0.428000														57			29		0	0	0.050027	0	0
UBR5	51366	broad.mit.edu	37	8	103324674	103324674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:103324674G>A	uc003ykr.2	-	16	2502	c.2047C>T	c.(2047-2049)Cca>Tca	p.P683S	UBR5_uc003yks.2_Missense_Mutation_p.P683S	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	683					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAGGTTCCTGGAAATTTTACA	0.378000														54			25		0	0	0.034045	0	0
C11orf63	79864	broad.mit.edu	37	11	122805710	122805710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:122805710G>A	uc001pym.3	+	4	1858	c.1561G>A	c.(1561-1563)Gga>Aga	p.G521R		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	521										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAATACTCATGGATCAACCAA	0.363000														49			43		0	0	0.104719	0	0
C6orf108	10591	broad.mit.edu	37	6	43193590	43193590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:43193590C>T	uc003ouo.3	-	3	423	c.406G>A	c.(406-408)Gat>Aat	p.D136N	C6orf108_uc003oup.3_3'UTR	NM_006443	NP_006434	O43598	RCL_HUMAN	Homo sapiens chromosome 6 open reading frame 108 (C6orf108), transcript variant 1, mRNA.	136					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	5			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			CGAGAGCCATCTGCTGCTCCC	0.617000														50			26		0	0	0.030593	0	0
C9orf152	401546	broad.mit.edu	37	9	112969737	112969737	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:112969737G>A	uc011lwk.2	-	0	677	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	41										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGGCTCGCAGGAACTGGATGC	0.612000														32			57		0	0	0.048971	0	0
EOMES	8320	broad.mit.edu	37	3	27759018	27759018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:27759018G>A	uc003cdy.3	-	5	1661	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	EOMES_uc003cdx.3_Missense_Mutation_p.S535F|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.S259F	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	535					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						AGATTCATAGGAACTGATGTC	0.527000														111			65		0	0	0.048971	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721127	70721127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:70721127C>T	uc003heo.3	-	2	276	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	SULT1E1_uc010ihv.1_Missense_Mutation_p.E55K	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	55					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TACACAATTTCACTAACCCAG	0.358000														39			20		0	0	0.062417	0	0
MIR205HG	642587	broad.mit.edu	37	1	209602648	209602648	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:209602648C>T	uc009xcn.3	+	1	389	c.6C>T	c.(4-6)ttC>ttT	p.F2F	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		gccTCATGTTCTTTTTCATTA	0.527000														7			12		0	0	0.093190	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029843	103029843	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:103029843T>C	uc003vbz.3	-	12	1602	c.1340A>G	c.(1339-1341)aAc>aGc	p.N447S	SLC26A5_uc003vbt.2_Missense_Mutation_p.N447S|SLC26A5_uc003vbu.2_Missense_Mutation_p.N447S|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Intron|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	447					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCCCTTCAGGTTGACAATCAC	0.478000														38			28		0	0	0.030593	0	0
PHF6	84295	broad.mit.edu	37	X	133547593	133547593	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:133547593A>G	uc004exj.3	+	5	693	c.491A>G	c.(490-492)aAa>aGa	p.K164R	PHF6_uc004exk.3_Missense_Mutation_p.K164R|PHF6_uc011mvk.2_Missense_Mutation_p.K130R|PHF6_uc004exh.3_Missense_Mutation_p.K165R|PHF6_uc010nrr.3_Missense_Mutation_p.K164R|PHF6_uc004exi.3_Missense_Mutation_p.K165R	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTCGCAAAGGAAGGCCA	0.358000			"""F, N, Splice, Mis"""		ETP ALL									13			61		0	0	0.048971	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:54754889T>C	uc010yer.1	-	12	1857	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597000														32			3		0	0	0.009096	0	0
CAND2	23066	broad.mit.edu	37	3	12858878	12858878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:12858878C>T	uc003bxk.2	+	9	2496	c.2447C>T	c.(2446-2448)cCc>cTc	p.P816L	CAND2_uc003bxj.2_Missense_Mutation_p.P723L	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	816					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTGCCTGTCCCCAAGAGGCG	0.647000														79			40		0	0	0.104719	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884382	143884382	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:143884382C>T	uc003wdz.2	-	1	1268	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	ARHGEF35_uc022aog.1_Silent_p.K365K	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	365	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CCCCTTTCTCCTTTATACCAT	0.547000														11			33		0	0	0.086207	0	0
SNTG2	54221	broad.mit.edu	37	2	1168793	1168793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:1168793C>T	uc002qwq.3	+	7	644	c.515C>T	c.(514-516)tCc>tTc	p.S172F	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	172					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.S172T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCAGGGCCATCCAGCGACCAC	0.507000														102			56		0	0	0.048971	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581218	101581218	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:101581218G>A	uc001thz.4	-	6	1299	c.909C>T	c.(907-909)tcC>tcT	p.S303S		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	303					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGGTACCTGGAATATAGGG	0.438000														23			14		0	0	0.024245	0	0
COL6A6	131873	broad.mit.edu	37	3	130284118	130284118	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:130284118G>A	uc010htl.3	+	2	973	c.942G>A	c.(940-942)aaG>aaA	p.K314K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	314	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCATCAAAAAGCTCAGGAAGG	0.507000														110			63		0	0	0.048971	0	0
OR10G4	390264	broad.mit.edu	37	11	123887023	123887023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:123887023C>T	uc010sac.2	+	0	742	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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)		TATTGTGGTCCTTTGCTTCTT	0.542000														37			22		0	0	0.062417	0	0
PRIC285	85441	broad.mit.edu	37	20	62196987	62196988	+	Missense_Mutation	DNP	GG	AA	AA	rs144293106		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:62196987_62196988GG>AA	uc002yfm.2	-	8	4079_4080	c.3187_3188CC>TT	c.(3187-3189)ccg>TTg	p.P1063L	PRIC285_uc002yfl.1_Missense_Mutation_p.P494L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1063					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCCGTCCCACGGCCAGAAGTCA	0.673000														20			42		0	0	0.004672	0	0
LELP1	149018	broad.mit.edu	37	1	153177315	153177315	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:153177315C>T	uc001fbl.3	+	1	242	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LELP1_uc021ozv.1_Silent_p.F44F	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	44	Cys/Pro-rich.							p.F44F(2)|p.C43S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACGCTGTTTCGAAAAGTGCC	0.567000														43			48		0	0	0.048971	0	0
TRIM8	81603	broad.mit.edu	37	10	104416543	104416543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:104416543C>T	uc001kvz.2	+	5	1211	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	363						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGAGTGTCCCCCTGTACCCT	0.642000														39			42		0	0	0.098360	0	0
RHBG	57127	broad.mit.edu	37	1	156351864	156351864	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:156351864C>T	uc010pho.2	+	6	1022	c.984C>T	c.(982-984)atC>atT	p.I328I	RHBG_uc010phm.1_Missense_Mutation_p.S161F|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.I259I|RHBG_uc009wrz.3_Silent_p.I296I|RHBG_uc001for.3_Silent_p.I298I	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	328					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCAGCCCATCCTTGAATCAA	0.577000														93			21		0	0	0.062417	0	0
PHF20	51230	broad.mit.edu	37	20	34519238	34519238	+	Silent	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:34519238G>T	uc002xek.1	+	14	2283	c.2172G>T	c.(2170-2172)ctG>ctT	p.L724L	U6_uc021wcs.1_5'Flank	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGCATGGCCTGGCATTTCTAG	0.502000														103			31		7.26314e-15	7.43433e-15	0.034045	1	0
NOS2	4843	broad.mit.edu	37	17	26089931	26089931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:26089931G>A	uc002gzu.3	-	21	2957	c.2693C>T	c.(2692-2694)tCc>tTc	p.S898F		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	898	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGGGAGCTGGGAAAGCAGGAA	0.597000														9			11		0	0	0.080935	0	0
TRPV5	56302	broad.mit.edu	37	7	142627511	142627511	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142627511G>A	uc003wby.1	-	1	423	c.159C>T	c.(157-159)tcC>tcT	p.S53S	TRPV5_uc003wbz.3_Silent_p.S53S	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	53					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)					CATTTTCCTTGGATGCTCGAA	0.502000														63			35		0	0	0.059317	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238671	179238671	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179238671A>G	uc002uly.3	+	15	2069	c.1525A>G	c.(1525-1527)Agc>Ggc	p.S509G	OSBPL6_uc002ulw.3_Missense_Mutation_p.S417G|OSBPL6_uc002ulx.3_Missense_Mutation_p.S484G|OSBPL6_uc010zfe.2_Missense_Mutation_p.S453G|OSBPL6_uc002ulz.3_Missense_Mutation_p.S448G|OSBPL6_uc002uma.3_Missense_Mutation_p.S488G	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	484					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGCCAATGAGAGCCGCCTCTC	0.483000														67			4		0	0	0.009096	0	0
DSP	1832	broad.mit.edu	37	6	7582885	7582885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:7582885G>A	uc003mxp.1	+	23	5669	c.5390G>A	c.(5389-5391)aGg>aAg	p.R1797K	DSP_uc003mxq.1_Missense_Mutation_p.R1198K|DSP_uc021yle.1_Missense_Mutation_p.R1354K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1797	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCATCTAATAGGATTCAGGAA	0.373000														79			41		0	0	0.080422	0	0
GLI3	2737	broad.mit.edu	37	7	42065834	42065834	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:42065834G>A	uc011kbh.2	-	7	1297	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	GLI3_uc011kbg.2_Silent_p.P343P	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	402					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGACCTGGACGGGGTTCAGAA	0.627000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					27			7		0	0	0.038147	0	0
ZNF623	9831	broad.mit.edu	37	8	144732412	144732412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:144732412C>T	uc003yzd.2	+	0	459	c.370C>T	c.(370-372)Cct>Tct	p.P124S	ZNF623_uc011lkp.1_Missense_Mutation_p.P84S|ZNF623_uc003yzc.2_Missense_Mutation_p.P84S	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAAGCCAATCCTTGCAATAT	0.478000														104			42		0	0	0.048971	0	0
TRIM56	81844	broad.mit.edu	37	7	100732537	100732537	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:100732537C>T	uc003uxq.3	+	2	2175	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Silent_p.F648F	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	648					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.F648F(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGGGCATTTCGTGGGGTCGG	0.652000														121			69		0	0	0.048971	0	0
SYT2	127833	broad.mit.edu	37	1	202571092	202571092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:202571092C>T	uc001gye.3	-	5	920	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	SYT2_uc010pqb.2_Missense_Mutation_p.V243M|SYT2_uc009xaf.3_Missense_Mutation_p.V73M	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	243	Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTCATAGGCACCTTTACCTCT	0.547000														105			29		0	0	0.034045	0	0
UBA7	7318	broad.mit.edu	37	3	49850926	49850926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:49850926C>T	uc003cxr.3	-	1	382	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	71	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)		GCAGCCAGGTCGGACCAGCAG	0.657000														102			46		0	0	0.048971	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555700	71555700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:71555700C>T	uc004agu.3	+	13	1801	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	PIP5K1B_uc011lrq.2_Missense_Mutation_p.S499L|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	499						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ACACTCTATTCAAACAGGTAA	0.438000														56			16		0	0	0.028581	0	0
STXBP2	6813	broad.mit.edu	37	19	7712250	7712250	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:7712250G>C	uc010xjr.2	+	17	1627	c.1582G>C	c.(1582-1584)Ggt>Cgt	p.G528R	STXBP2_uc002mha.4_Missense_Mutation_p.G517R|STXBP2_uc002mhb.4_Missense_Mutation_p.G514R|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	517					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGCCCGCTTCGGTCACTGGCA	0.687000														82			8		0	0	0.047766	0	0
SLC5A12	159963	broad.mit.edu	37	11	26720049	26720049	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:26720049G>A	uc001mra.2	-	6	1168	c.855C>T	c.(853-855)atC>atT	p.I285I	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Silent_p.I285I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	285				I -> V (in Ref. 2; AAQ73572).	sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACACCAGAATGATCCAGAGAC	0.453000														50			28		0	0	0.034045	0	0
NISCH	11188	broad.mit.edu	37	3	52506374	52506374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52506374C>T	uc003ded.4	+	5	763	c.629C>T	c.(628-630)cCg>cTg	p.P210L	NISCH_uc003dec.1_Missense_Mutation_p.P210L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	210	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGCTCCTGCCGTTCGACCTA	0.527000											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			37		0	0	0.086207	0	0
OR7E5P	219445	broad.mit.edu	37	11	55747337	55747337	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:55747337G>A	uc010riu.1	-	3	675	c.120C>T	c.(118-120)ttC>ttT	p.F40F						Homo sapiens olfactory receptor, family 7, subfamily E, member 5 pseudogene (OR7E5P), non-coding RNA.											breast(1)|kidney(1)|lung(5)	7						TGGCCGAGGTGAAACCGATGT	0.537000														10			9		0	0	0.058154	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966394	23966394	+	Silent	SNP	G	A	A	rs148590178		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:23966394G>A	uc002wts.3	-	4	574	c.441C>T	c.(439-441)ttC>ttT	p.F147F	GGTLC1_uc002wtu.3_Silent_p.F147F	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	147							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGTCATAGCCGAACCAGAGGT	0.612000														179			38		0	0	0.074837	0	0
EFTUD2	9343	broad.mit.edu	37	17	42940269	42940269	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:42940269G>A	uc002ihn.2	-	15	1680	c.1419C>T	c.(1417-1419)ccC>ccT	p.P473P	EFTUD2_uc010wje.1_Silent_p.P438P|EFTUD2_uc010wjf.1_Silent_p.P463P	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	473						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGCACATCAGGGGGCCCTGGA	0.567000														28			34		0	0	0.086207	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884055	24884055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:24884055C>T	uc001wpf.4	+	8	3418	c.3100C>T	c.(3100-3102)Ctt>Ttt	p.L1034F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1034					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGCCCGTCCCTTTCGGAGGA	0.642000														25			36		0	0	0.098360	0	0
CHRM3	1131	broad.mit.edu	37	1	240072012	240072012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:240072012C>T	uc021plc.1	+	0	1261	c.1261C>T	c.(1261-1263)Cca>Tca	p.P421S	CHRM3_uc001hyp.3_Missense_Mutation_p.P421S	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	421					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.P421S(2)|p.P421L(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AGGCAGTTTTCCAAAAAGCTT	0.567000														19			4		0	0	0.009096	0	0
LCE1B	353132	broad.mit.edu	37	1	152785047	152785047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:152785047C>T	uc001faq.3	+	0	601	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	42					keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGTCTCTTCCTGCTGCAGT	0.647000														54			49		0	0	0.048971	0	0
FAM120C	54954	broad.mit.edu	37	X	54161465	54161465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:54161465G>A	uc004dsz.4	-	6	1498	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	FAM120C_uc011moh.2_Missense_Mutation_p.S472F	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	472										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAAAGCATGGGAGGAGAAGAG	0.488000														4			18		0	0	0.043863	0	0
MYH1	4619	broad.mit.edu	37	17	10404526	10404526	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:10404526G>A	uc002gmo.3	-	26	3733	c.3639C>T	c.(3637-3639)aaC>aaT	p.N1213N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1213						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCGCTGCAGGTTGTCAATCT	0.557000														19			52		0	0	0.048971	0	0
MORN3	283385	broad.mit.edu	37	12	122092317	122092317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:122092317C>T	uc001uax.3	-	2	497	c.326G>A	c.(325-327)gGa>gAa	p.G109E	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	109										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CTCCTTGGGTCCGAAAAACTG	0.587000														12			4		0	0	0.029380	0	0
TRIM45	80263	broad.mit.edu	37	1	117661263	117661263	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:117661263G>T	uc001egz.2	-	1	1203	c.615C>A	c.(613-615)ttC>ttA	p.F205L	TRIM45_uc009whe.2_Missense_Mutation_p.F205L	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	205						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GCCGGTCACAGAACTCACAGA	0.562000														101			55		1.54886e-18	1.59431e-18	0.048971	1	0
C8orf22	492307	broad.mit.edu	37	8	49985398	49985398	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:49985398C>T	uc003xqq.4	+	1	192	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	Homo sapiens chromosome 8 open reading frame 22 (C8orf22), mRNA.	3										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CCATGGCATCCGTACCTTCCA	0.418000														99			68		0	0	0.048971	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217491	32217491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:32217491C>T	uc011alu.2	+	22	2076	c.1874C>T	c.(1873-1875)cCa>cTa	p.P625L	DEPDC5_uc011als.2_Intron|DEPDC5_uc003als.3_Missense_Mutation_p.P625L|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Missense_Mutation_p.P625L|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Missense_Mutation_p.P65L|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	625					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGGTAGGGCCATCCGGAGAA	0.537000														47			64		0	0	0.048971	0	0
GRB14	2888	broad.mit.edu	37	2	165476206	165476206	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:165476206C>T	uc002ucl.3	-	1	856	c.315G>A	c.(313-315)agG>agA	p.R105R		NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	105					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCTGTTTTTTCCTTGAATTTG	0.343000														29			38		0	0	0.104719	0	0
EMR3	84658	broad.mit.edu	37	19	14772913	14772913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:14772913G>A	uc002mzi.4	-	3	365	c.217C>T	c.(217-219)Cca>Tca	p.P73S	EMR3_uc010dzp.3_Intron|EMR3_uc010xnv.2_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	73	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTATAGGGTGGTGTACATTCA	0.398000														30			22		0	0	0.083992	0	0
KLHL3	26249	broad.mit.edu	37	5	137045464	137045464	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:137045464G>A	uc010jek.3	-	2	660	c.216C>T	c.(214-216)agC>agT	p.S72S	MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Silent_p.S32S	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	72	BTB.					cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGAAGTAGGGGCTGCAGGCTG	0.542000														97			29		0	0	0.034045	0	0
ARID5B	84159	broad.mit.edu	37	10	63852746	63852746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:63852746C>T	uc001jlt.2	+	9	3980	c.3524C>T	c.(3523-3525)cCa>cTa	p.P1175L	ARID5B_uc001jlu.2_Missense_Mutation_p.P932L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1175					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCTGCCTTTCCATCTTCCCAG	0.512000														51			18		0	0	0.038395	0	0
ENPEP	2028	broad.mit.edu	37	4	111474477	111474477	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:111474477G>A	uc003iab.4	+	17	2850	c.2508G>A	c.(2506-2508)ttG>ttA	p.L836L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	836					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTAGGTATTTGGATTTGCTCA	0.348000														68			47		0	0	0.048971	0	0
KCND3	3752	broad.mit.edu	37	1	112318868	112318868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:112318868C>T	uc001ebu.1	-	7	2279	c.1799G>A	c.(1798-1800)gGa>gAa	p.G600E	KCND3_uc001ebv.1_Missense_Mutation_p.G581E	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	600						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGTCTCAGTCCGTCGTCTGC	0.562000														42			40		0	0	0.092188	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789285	117789285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:117789285G>A	uc001prs.2	-	1	436	c.290C>T	c.(289-291)tCc>tTc	p.S97F	TMPRSS13_uc009yzr.2_Missense_Mutation_p.S97F|TMPRSS13_uc021qrc.1_Missense_Mutation_p.S97F|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.S97F	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	92					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGAGGACCTGGAAAGTGATGC	0.632000														49			11		0	0	0.093190	0	0
DRD2	1813	broad.mit.edu	37	11	113281476	113281476	+	Silent	SNP	C	T	T	rs77930100	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:113281476C>T	uc001pnz.3	-	6	1626	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	DRD2_uc010rwv.2_Silent_p.K434K|DRD2_uc001poa.4_Silent_p.K435K|DRD2_uc001pob.4_Silent_p.K406K	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	435					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCAGGAAGGCCTTGCGGAACT	0.617000														122			52		0	0	0.048971	0	0
ABCA12	26154	broad.mit.edu	37	2	215843674	215843674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:215843674C>T	uc002vew.3	-	31	5051	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	ABCA12_uc002vev.3_Missense_Mutation_p.D1293N|ABCA12_uc010zjn.2_Missense_Mutation_p.D538N	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1611					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)		CCCCCAATATCCTCCTTGAGG	0.493000														50			13		0	0	0.093190	0	0
CSMD1	64478	broad.mit.edu	37	8	3081279	3081279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:3081279C>T	uc022aqr.1	-	27	4846	c.4456G>A	c.(4456-4458)Gac>Aac	p.D1486N	CSMD1_uc011kwj.2_Missense_Mutation_p.D879N|CSMD1_uc003wqe.3_Missense_Mutation_p.D643N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1487	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGACAAAGTCCGGGTTCACT	0.428000														76			40		0	0	0.104719	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338200	72338200	+	RNA	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:72338200G>A	uc010lal.1	-	0		c.1456C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCTCCCCCCAGCCATGCGTTG	0.478000														115			63		0	0	0.048971	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848316	48848316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:48848316C>T	uc002rwp.2	+	4	2360	c.2246C>T	c.(2245-2247)aCc>aTc	p.T749I	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.T749I|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.T749I|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.T45I|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.T11I	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	749					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)			CTCTGGGAAACCAAGGTTTTG	0.353000														18			22		0	0	0.069288	0	0
NISCH	11188	broad.mit.edu	37	3	52523640	52523640	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52523640C>T	uc003ded.4	+	16	3536	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V	NISCH_uc003dee.4_Silent_p.V623V|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1134					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCGGCACGTCGCCAGCCTGC	0.672000														66			52		0	0	0.048971	0	0
MYO18B	84700	broad.mit.edu	37	22	26299753	26299753	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:26299753G>A	uc003abz.1	+	30	5353	c.5103G>A	c.(5101-5103)caG>caA	p.Q1701Q	MYO18B_uc003aca.1_Silent_p.Q1582Q|MYO18B_uc010guy.1_Silent_p.Q1583Q|MYO18B_uc010guz.1_Silent_p.Q1581Q|MYO18B_uc011aka.1_Silent_p.Q855Q|MYO18B_uc011akb.1_Silent_p.Q1214Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1701	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						TTGAGCAACAGAAAATCCAGA	0.552000														1			6		0	0	0.038147	0	0
ZNF735	730291	broad.mit.edu	37	7	63680443	63680443	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:63680443G>A	uc011kdn.2	+	3	1014	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ACTGCTCCTCGACTCTTAAGA	0.423000														11			9		0	0	0.058154	0	0
TET1	80312	broad.mit.edu	37	10	70405196	70405196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:70405196C>T	uc001jok.4	+	3	3215	c.2710C>T	c.(2710-2712)Cca>Tca	p.P904S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	904					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCAGAAGCCCCATCAGAGAA	0.453000														40			44		0	0	0.039052	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419208	65419208	+	Silent	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:65419208T>C	uc011kds.2	+	1	444	c.342T>C	c.(340-342)ccT>ccC	p.P114P	VKORC1L1_uc003tul.3_Missense_Mutation_p.L151P|VKORC1L1_uc003tum.1_5'Flank			Q8N0U8	VKORL_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA.	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	CTGAACTTCCTTCTTCTCATT	0.517000														49			35		0	0	0.069456	0	0
OR5D13	390142	broad.mit.edu	37	11	55541093	55541093	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:55541093C>T	uc010ril.2	+	0	180	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCCATACAATCATGTGCTTTT	0.398000														90			17		0	0	0.043863	0	0
NTM	50863	broad.mit.edu	37	11	132180060	132180060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:132180060G>A	uc010sci.2	+	5	1047	c.716G>A	c.(715-717)gGg>gAg	p.G239E	NTM_uc001qgm.3_Missense_Mutation_p.G239E|NTM_uc010sch.2_Missense_Mutation_p.G230E|NTM_uc010scj.2_Missense_Mutation_p.G198E|NTM_uc001qgo.3_Missense_Mutation_p.G239E|NTM_uc001qgq.3_Missense_Mutation_p.G239E|NTM_uc001qgp.3_Missense_Mutation_p.G239E	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	239	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.G239W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGACAAAAGGGGACACTGCAG	0.502000														144			61		0	0	0.048971	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900644	28900644	+	RNA	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:28900644C>T	uc010uan.1	+	2		c.575C>T			HERC2P9_uc010azc.3_Intron|HERC2P9_uc010uao.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		TCCTCAGAGTCCATGCTGAGG	0.642000														23			7		0	0	0.029380	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173882199	173882199	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:173882199C>T	uc002uhv.4	+	20	2162	c.1975C>T	c.(1975-1977)Cag>Tag	p.Q659*	RAPGEF4_uc002uhw.4_Nonsense_Mutation_p.Q515*	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	659					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGAGAGAGCCCAGAAGCGCCA	0.468000														48			8		0	0	0.058154	0	0
KCNH7	90134	broad.mit.edu	37	2	163374667	163374667	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:163374667C>T	uc002uch.2	-	4	693	c.464_splice	c.e4-1	p.R155_splice	KCNH7_uc002uci.3_Splice_Site_p.R155_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	155					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAAAAAATTTCCCTATAAATG	0.368000														31			32		0	0	0.054565	0	0
LRRC42	115353	broad.mit.edu	37	1	54417927	54417927	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:54417927C>T	uc001cwj.1	+	1	455	c.255C>T	c.(253-255)tcC>tcT	p.S85S	LRRC42_uc001cwk.1_Silent_p.S85S	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	85										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TTCGGTACTCCGCCAAATCCC	0.483000														88			90		0	0	0.048971	0	0
NEFL	4747	broad.mit.edu	37	8	24813375	24813375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:24813375C>T	uc003xee.3	-	0	757	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	219	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGAGATTTCGTCCATCAAG	0.627000														28			14		0	0	0.024245	0	0
FAM123C	205147	broad.mit.edu	37	2	131521822	131521822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:131521822C>T	uc021voy.1	+	0	2177	c.2177C>T	c.(2176-2178)cCc>cTc	p.P726L	FAM123C_uc002trw.2_Missense_Mutation_p.P726L|FAM123C_uc010fmv.2_Missense_Mutation_p.P726L|FAM123C_uc010fms.1_Missense_Mutation_p.P726L|FAM123C_uc010fmt.1_Missense_Mutation_p.P726L|FAM123C_uc010fmu.1_Missense_Mutation_p.P726L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	726										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGCAGCTCCCCCAGCATGACC	0.642000														20			17		0	0	0.049695	0	0
TRPV5	56302	broad.mit.edu	37	7	142625848	142625848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142625848G>A	uc003wby.1	-	5	964	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F	TRPV5_uc003wbz.3_Missense_Mutation_p.L234F	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	234					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)					TTGGGCACAAGGTCCAGGGGC	0.562000														45			19		0	0	0.043863	0	0
TXLNB	167838	broad.mit.edu	37	6	139564218	139564218	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:139564218C>T	uc021zfy.1	-	9	1665	c.1500G>A	c.(1498-1500)gtG>gtA	p.V500V		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	500						cytoplasm		p.A499T(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCAGATTTTTCACGGCGGTTT	0.488000														49			70		0	0	0.048971	0	0
DLEC1	9940	broad.mit.edu	37	3	38155851	38155851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:38155851G>A	uc003chp.1	+	25	3706	c.3685G>A	c.(3685-3687)Gaa>Aaa	p.E1229K	DLEC1_uc003cho.1_Missense_Mutation_p.E1229K|DLEC1_uc010hgv.1_Missense_Mutation_p.E1232K|DLEC1_uc003chr.1_Missense_Mutation_p.E300K|DLEC1_uc010hgx.1_Non-coding_Transcript|DLEC1_uc003chs.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1229					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTGCTGCCGGAAGTCATCCC	0.617000														46			21		0	0	0.055883	0	0
LUZP2	338645	broad.mit.edu	37	11	25100135	25100135	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:25100135G>A	uc001mqs.3	+	11	1246	c.972G>A	c.(970-972)gtG>gtA	p.V324V	LUZP2_uc009yif.3_Silent_p.V238V|LUZP2_uc009yig.3_Silent_p.V282V	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	324						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AATGTGAGGTGAAAAAAGCCC	0.338000														64			28		0	0	0.045705	0	0
AFF2	2334	broad.mit.edu	37	X	147985781	147985781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:147985781C>T	uc004fcp.3	+	8	1869	c.1390C>T	c.(1390-1392)Cct>Tct	p.P464S	AFF2_uc004fco.3_Missense_Mutation_p.P425S|AFF2_uc004fcq.3_Missense_Mutation_p.P454S|AFF2_uc004fcr.3_Missense_Mutation_p.P425S|AFF2_uc011mxb.2_Missense_Mutation_p.P429S|AFF2_uc004fcs.3_Missense_Mutation_p.P431S|AFF2_uc011mxc.2_Missense_Mutation_p.P105S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	464					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGAATAATCCTGTGAAGTA	0.318000														20			73		0	0	0.048971	0	0
CACNA1E	777	broad.mit.edu	37	1	181705457	181705457	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:181705457G>A	uc009wxt.3	+	21	3504	c.3309G>A	c.(3307-3309)gaG>gaA	p.E1103E	CACNA1E_uc001gow.3_Silent_p.E1103E|CACNA1E_uc009wxs.3_Silent_p.E1084E|CACNA1E_uc001gox.1_Silent_p.E329E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1103					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGAGGCAGAGATCAGAgagg	0.498000														7			9		0	0	0.047766	0	0
SNAP91	9892	broad.mit.edu	37	6	84368726	84368726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:84368726C>T	uc021zcf.1	-	4	568	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	SNAP91_uc003pka.3_Missense_Mutation_p.E180K|SNAP91_uc011dze.2_Missense_Mutation_p.E180K|SNAP91_uc003pkc.3_Missense_Mutation_p.E180K|SNAP91_uc003pkd.3_Missense_Mutation_p.E180K|SNAP91_uc003pkb.3_Missense_Mutation_p.E145K|SNAP91_uc011dzf.1_Missense_Mutation_p.E61K	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	180					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACATCAAATTCAAGCAGTGCA	0.383000														1			13		0	0	0.105934	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764018	77764018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:77764018G>A	uc003yau.2	+	9	5248	c.4861G>A	c.(4861-4863)Gct>Act	p.A1621T	ZFHX4_uc003yaw.1_Missense_Mutation_p.A1576T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1576						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)			CCAGACAAAGGCTAGGGCTGC	0.517000										HNSCC(33;0.089)				47			29		0	0	0.054565	0	0
XCR1	2829	broad.mit.edu	37	3	46062536	46062536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:46062536G>A	uc003cpe.3	-	2	1128	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.L302F|XCR1_uc021wwx.1_Missense_Mutation_p.L302F	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	302					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AACTGCCGGAGAACATGTTTC	0.617000														15			7		0	0	0.038147	0	0
CHRNA6	8973	broad.mit.edu	37	8	42620267	42620267	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:42620267T>A	uc003xpj.3	-	1	516	c.160A>T	c.(160-162)Aac>Tac	p.N54Y	CHRNA6_uc011lcw.2_Missense_Mutation_p.N54Y	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	54						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCGGAAACGTTTTCCACAGGC	0.527000														100			66		0	0	0.048971	0	0
NRG3	10718	broad.mit.edu	37	10	84711264	84711264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:84711264C>T	uc021pvc.1	+	4	1121	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L	NRG3_uc010qlz.1_Missense_Mutation_p.S364L|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Missense_Mutation_p.S365L|NRG3_uc001kcp.2_Missense_Mutation_p.S144L|NRG3_uc001kcq.2_Missense_Mutation_p.S15L|NRG3_uc021pvd.1_Missense_Mutation_p.S144L|NRG3_uc021pve.1_Missense_Mutation_p.S169L|NRG3_uc021pvf.1_Missense_Mutation_p.S15L|NRG3_uc021pvg.1_Missense_Mutation_p.S169L|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.S195L|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.S15L|NRG3_uc021pvl.1_Missense_Mutation_p.S15L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	365					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGTCAATTTCATGTATCATC	0.378000														21			22		0	0	0.083992	0	0
KAZN	23254	broad.mit.edu	37	1	15386767	15386767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:15386767C>T	uc001avm.4	+	5	1297	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	KAZN_uc009vog.1_Missense_Mutation_p.S339F|KAZN_uc001avo.2_Missense_Mutation_p.S333F|KAZN_uc001avp.2_Missense_Mutation_p.S245F|KAZN_uc001avq.2_Missense_Mutation_p.S245F|KAZN_uc001avr.2_Missense_Mutation_p.S242F	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	339					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GACATCAACTCCCCTCGACAC	0.706000														107			65		0	0	0.048971	0	0
CDK18	5129	broad.mit.edu	37	1	205496942	205496943	+	Missense_Mutation	DNP	CC	TT	TT	rs141496311		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:205496942_205496943CC>TT	uc001hcr.3	+	8	1102_1103	c.840_841CC>TT	c.(838-843)ctccgg>ctTTgg	p.R281W	CDK18_uc001hcp.3_Missense_Mutation_p.R251W|CDK18_uc001hcq.3_Missense_Mutation_p.R251W|CDK18_uc010prj.2_Missense_Mutation_p.R162W|CDK18_uc001hcs.3_Missense_Mutation_p.R162W|CDK18_uc009xbm.1_Missense_Mutation_p.R176W	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	249	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.R281R(2)|p.R251R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TCCAGCTGCTCCGGGGCCTCGC	0.629000														52			44		0	0	0.004672	0	0
GSN	2934	broad.mit.edu	37	9	124094751	124094751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:124094751G>A	uc004blf.1	+	16	2280	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	GSN_uc004bld.1_Missense_Mutation_p.R689Q|GSN_uc010mvr.1_Missense_Mutation_p.R700Q|GSN_uc010mvq.1_Missense_Mutation_p.R700Q|GSN_uc010mvu.1_Missense_Mutation_p.R689Q|GSN_uc010mvt.1_Missense_Mutation_p.R689Q|GSN_uc010mvs.1_Missense_Mutation_p.R689Q|GSN_uc004ble.1_Missense_Mutation_p.R689Q|GSN_uc010mvv.1_Missense_Mutation_p.R689Q|GSN_uc011lyh.1_Missense_Mutation_p.R706Q|GSN_uc011lyi.1_Missense_Mutation_p.R689Q|GSN_uc011lyj.1_Missense_Mutation_p.R713Q	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	740	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AATCGGGATCGGCGGACGCCC	0.577000											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			27		0	0	0.034045	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953158	32953158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:32953158C>T	uc002hif.3	+	1	408	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	27						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTGGCCGCTCCCACCCGGCC	0.736000														1			4		0	0	0.021553	0	0
ECEL1	9427	broad.mit.edu	37	2	233350790	233350790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:233350790C>T	uc002vsv.2	-	1	779	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ECEL1_uc010fya.1_Missense_Mutation_p.E192K|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	192					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGCTCGATCTCGCGCATGTCG	0.771000														8			11		0	0	0.105934	0	0
ABCC6	368	broad.mit.edu	37	16	16244555	16244555	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:16244555G>T	uc002den.4	-	29	4320	c.4283C>A	c.(4282-4284)gCt>gAt	p.A1428D	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1428	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGCAGCAGTAGCCTCGTCCAG	0.622000														14			9		1.76689e-08	1.79644e-08	0.058154	1	0
SPG11	80208	broad.mit.edu	37	15	44865889	44865889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:44865889G>A	uc001ztx.3	-	31	6092	c.6061C>T	c.(6061-6063)Cgg>Tgg	p.R2021W	SPG11_uc010bdw.3_Intron|SPG11_uc010ueh.2_Intron|SPG11_uc010uei.2_Missense_Mutation_p.R2021W|SPG11_uc001zty.1_Missense_Mutation_p.R750W	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2021					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAGATTTTCCGGAGCATGGCT	0.547000														41			22		0	0	0.069288	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136339	40136339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:40136339C>T	uc021qgf.1	-	0	1504	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E498K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E498K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E502K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E498K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	502					regulation of axonogenesis	integral to membrane	protein binding	p.T501K(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGGTTTTCTCTGTCGACCTT	0.502000														45			28		0	0	0.034045	0	0
CDCP1	64866	broad.mit.edu	37	3	45127545	45127545	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:45127545T>C	uc003com.3	-	8	2231	c.2096A>G	c.(2095-2097)aAc>aGc	p.N699S		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	699						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGGGCCCTTGTTTGTCTTCTT	0.453000														116			66		0	0	0.048971	0	0
EPS8L3	79574	broad.mit.edu	37	1	110302423	110302423	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:110302423G>A	uc001dyr.2	-	3	357	c.132C>T	c.(130-132)gtC>gtT	p.V44V	EPS8L3_uc001dys.2_Silent_p.V44V|EPS8L3_uc001dyq.2_Silent_p.V44V|EPS8L3_uc009wfm.2_Silent_p.V10V|EPS8L3_uc009wfn.2_Silent_p.V10V|EPS8L3_uc009wfo.2_Intron	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	44						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGGCCCCTGGACTCTCTGAC	0.617000														73			38		0	0	0.111260	0	0
ITGBL1	9358	broad.mit.edu	37	13	102345015	102345015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:102345015C>T	uc001vpb.3	+	7	1315	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	ITGBL1_uc010agb.3_Missense_Mutation_p.R317C|ITGBL1_uc001vpc.4_Missense_Mutation_p.R225C	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	366	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGTGATGATCGCCGCTGTGA	0.468000														86			43		0	0	0.048971	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				108			154		0	0	0.048971	0	0
C12orf63	374467	broad.mit.edu	37	12	97147565	97147565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:97147565G>A	uc021rcc.1	+	22	3082	c.3004G>A	c.(3004-3006)Gac>Aac	p.D1002N				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1002								p.K1001>?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAAAAGGAAGGACCCCTCGAA	0.423000														35			20		0	0	0.091800	0	0
C12orf50	160419	broad.mit.edu	37	12	88376946	88376946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:88376946C>T	uc001tam.1	-	11	1321	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	385										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CAGGCTGAATCATTATATGAT	0.274000														69			18		0	0	0.043863	0	0
ABCF3	55324	broad.mit.edu	37	3	183906717	183906717	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:183906717G>A	uc003fmz.2	+	9	1051	c.918_splice	c.e9-1	p.R306_splice	ABCF3_uc003fna.2_Splice_Site_p.R300_splice|ABCF3_uc003fnb.2_Splice_Site	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	306	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCTACTAGGGCATCAGTCA	0.517000														58			30		0	0	0.054565	0	0
ATP5F1	515	broad.mit.edu	37	1	111992045	111992045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:111992045G>A	uc009wgf.1	+	1	339	c.323G>A	c.(322-324)gGa>gAa	p.G108E	WDR77_uc001ebb.3_5'Flank|WDR77_uc010owe.2_5'Flank|WDR77_uc021orq.1_5'Flank|ATP5F1_uc001ebc.3_5'UTR	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	0					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAAGTTGAAGGAAGAGTACAA	0.478000														43			18		0	0	0.033300	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589407	136589407	+	Nonsense_Mutation	SNP	G	A	A	rs149673256		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:136589407G>A	uc003qgx.1	-	9	2543	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	BCLAF1_uc011edb.1_Nonsense_Mutation_p.R92*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R762*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R762*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R591*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	764					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTTCTTCTCGAGAACTGGGA	0.383000														70			4		0	0	0.014758	0	0
HCN4	10021	broad.mit.edu	37	15	73615870	73615870	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:73615870G>T	uc002avp.3	-	7	3558	c.2564C>A	c.(2563-2565)tCc>tAc	p.S855Y		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	855					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGGAAGGAGGATGAAGACGG	0.677000														45			34		1.47197e-15	1.51005e-15	0.098360	1	0
BAZ1B	9031	broad.mit.edu	37	7	72922733	72922733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:72922733G>A	uc003tyc.3	-	2	645	c.293C>T	c.(292-294)tCc>tTc	p.S98F		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	98	Mediates the tyrosine-protein kinase activity.|WAC.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCTCTAAGGAGGCTGTGTT	0.408000														37			27		0	0	0.030593	0	0
PSMD1	5707	broad.mit.edu	37	2	231948295	231948295	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:231948295C>T	uc002vrn.2	+	13	1702	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	PSMD1_uc002vrm.2_Silent_p.L514L|PSMD1_uc010fxu.2_Silent_p.L378L	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	514					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGCAGCTGGCCTGGCCCTAGG	0.423000														70			58		0	0	0.048971	0	0
LRP3	4037	broad.mit.edu	37	19	33698225	33698225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:33698225C>T	uc010edh.3	+	6	2150	c.2057C>T	c.(2056-2058)tCg>tTg	p.S686L	LRP3_uc002nuk.4_Missense_Mutation_p.S560L	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	686					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCCTTGCCCTCGGGCCTGCGA	0.701000														10			11		0	0	0.069234	0	0
USH1C	10083	broad.mit.edu	37	11	17548347	17548347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:17548347C>T	uc001mnf.3	-	6	641	c.532G>A	c.(532-534)Gag>Aag	p.E178K	USH1C_uc001mne.3_Missense_Mutation_p.E178K|USH1C_uc009yhb.3_Missense_Mutation_p.E178K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.E142K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	178					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						GTGAGGGGCTCATCAGGAGAG	0.552000														44			28		0	0	0.030593	0	0
SLIT2	9353	broad.mit.edu	37	4	20620554	20620554	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:20620554C>T	uc003gpr.1	+	36	4716	c.4512C>T	c.(4510-4512)ttC>ttT	p.F1504F	SLIT2_uc003gps.1_Silent_p.F1496F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1504	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.F1504F(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATACTCTTTCGAATGCACTG	0.567000														38			18		0	0	0.049695	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338349	72338349	+	RNA	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:72338349C>T	uc010lal.1	-	0		c.1307G>A								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GACAGGGTTTCCATGGGAGCA	0.552000														113			61		0	0	0.048971	0	0
DNAH1	25981	broad.mit.edu	37	3	52394357	52394357	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52394357C>T	uc011bef.2	+	27	4863	c.4602C>T	c.(4600-4602)atC>atT	p.I1534I		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1534	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTGTATATCCGTGCTGTGA	0.552000														47			19		0	0	0.055883	0	0
ATP10D	57205	broad.mit.edu	37	4	47538862	47538862	+	Missense_Mutation	SNP	C	G	G	rs150738679		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:47538862C>G	uc003gxk.1	+	8	1467	c.1303C>G	c.(1303-1305)Ctc>Gtc	p.L435V	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.L420V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	435					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATTCAGTACCTCTTTTCCGA	0.418000														32			16		0	0	0.024245	0	0
RETSAT	54884	broad.mit.edu	37	2	85577189	85577189	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:85577189A>G	uc002spd.3	-	3	964	c.773T>C	c.(772-774)gTa>gCa	p.V258A	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.V197A	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	258					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTAGCTGAGTACTGCCTGGAG	0.592000														60			16		0	0	0.028581	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127274	150127275	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:150127274_150127275CC>TT	uc003exv.3	+	0	487_488	c.137_138CC>TT	c.(136-138)tcc>tTT	p.S46F	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.S46F	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	46							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GACGTCTCCTCCGAGATTTTCG	0.604000														20			11		0	0	0.004672	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22197493	22197493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:22197493C>T	uc003svg.3	-	14	1391	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	RAPGEF5_uc011jyl.1_Missense_Mutation_p.E41K	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	210	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGTGAATATTCATCTACAGTG	0.403000														34			27		0	0	0.037714	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971187	+	Nonsense_Mutation	DNP	GG	AA	AA	rs121913387		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:21971186_21971187GG>AA	uc003zpk.3	-	1	477_478	c.171_172CC>TT	c.(169-174)gcccga>gcTTga	p.R58*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R58*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P72L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	58			R -> Q (in dbSNP:rs36204273).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R58*(163)|p.?(45)|p.M53_R58del(6)|p.A57V(5)|p.A57P(5)|p.R58fs*59(4)|p.R58fs*88(3)|p.P113L(3)|p.A57_R58>V*(2)|p.R58R(2)|p.R58fs*89(2)|p.M54fs*61(2)|p.A57fs*85(2)|p.A57T(2)|p.R58fs*61(2)|p.R58fs*62(2)|p.A57A(2)|p.A57fs*62(1)|p.A57fs*63(1)|p.0(1)|p.R58Q(1)|p.P113fs*>61(1)|p.G55fs*86(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCCA	0.678000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				29			49		0	0	0.004672	0	0
PLA2G7	7941	broad.mit.edu	37	6	46677110	46677110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:46677110C>T	uc010jzf.3	-	8	1092	c.823G>A	c.(823-825)Ggt>Agt	p.G275S	PLA2G7_uc021zae.1_Missense_Mutation_p.G275S	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	275					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GTTGCTCCACCAAAAGAATGT	0.303000														81			29		0	0	0.059317	0	0
ZAN	7455	broad.mit.edu	37	7	100349677	100349677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:100349677C>T	uc003uwj.3	+	13	2114	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	ZAN_uc003uwk.3_Missense_Mutation_p.S650F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	650	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATTTCCACAGAAAAA	0.522000														28			17		0	0	0.033300	0	0
NAA16	79612	broad.mit.edu	37	13	41941750	41941750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:41941750C>T	uc001uyf.2	+	13	2039	c.1715C>T	c.(1714-1716)cCc>cTc	p.P572L	NAA16_uc010tfg.1_Non-coding_Transcript	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	572					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATGATAATCCCTTAACCAAT	0.323000														27			11		0	0	0.105934	0	0
CNTN5	53942	broad.mit.edu	37	11	100061937	100061937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:100061937G>A	uc001pga.3	+	13	2164	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CNTN5_uc009ywv.2_Missense_Mutation_p.E554K|CNTN5_uc001pfz.3_Missense_Mutation_p.E554K|CNTN5_uc021qpb.1_Missense_Mutation_p.E554K|CNTN5_uc021qpc.1_Missense_Mutation_p.E480K|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	554	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G553G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGCCGAGGGGAAAACGTCTT	0.408000														26			17		0	0	0.038395	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115133	220115133	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:220115133T>A	uc002vkt.1	-	3	1346	c.1288A>T	c.(1288-1290)Aag>Tag	p.K430*	TUBA4A_uc010zkz.1_Nonsense_Mutation_p.K415*|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	430					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATAATCCTTCTCCAGGGCA	0.527000														102			33		0	0	0.041601	0	0
MAPK6	5597	broad.mit.edu	37	15	52356175	52356175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:52356175C>T	uc002abp.3	+	5	1938	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	382					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TCAGCTTGATCCAAGAGCTCT	0.398000														48			23		0	0	0.069288	0	0
COL3A1	1281	broad.mit.edu	37	2	189870113	189870113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:189870113G>A	uc002uqj.1	+	40	3086	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	990	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCTCAGTGGAGAACGTGGT	0.453000														91			30		0	0	0.069456	0	0
TMEM175	84286	broad.mit.edu	37	4	949636	949636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:949636G>A	uc003gbq.3	+	9	898	c.800G>A	c.(799-801)gGa>gAa	p.G267E	TMEM175_uc010ibl.1_Missense_Mutation_p.G267E|TMEM175_uc003gbp.1_Missense_Mutation_p.G185E|TMEM175_uc003gbs.3_Missense_Mutation_p.G150E|TMEM175_uc003gbt.3_Missense_Mutation_p.G150E|TMEM175_uc003gbr.3_Missense_Mutation_p.G185E	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	267						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTCAGCGACGGAGTCTACGCC	0.622000														46			22		0	0	0.083992	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715618	68715618	+	Missense_Mutation	SNP	C	T	T	rs34291091		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:68715618C>T	uc003jwq.3	+	1	480	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	MARVELD2_uc010ixf.3_Missense_Mutation_p.P136S|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	136					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CTGCAAAGATCCCTACGGAGG	0.542000														39			9		0	0	0.047766	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300714	103300714	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:103300714C>T	uc002tca.3	+	4	1486	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	448						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TAGTGTTTCTCCTTCCTGCTG	0.433000														100			24		0	0	0.083992	0	0
MLN	4295	broad.mit.edu	37	6	33766901	33766901	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:33766901T>A	uc003off.1	-	2	286	c.215A>T	c.(214-216)gAa>gTa	p.E72V	MLN_uc003ofg.1_Missense_Mutation_p.E72V|MLN_uc011drn.1_Missense_Mutation_p.E72V	NM_002418	NP_002409	P12872	MOTI_HUMAN	Homo sapiens motilin (MLN), transcript variant 1, mRNA.	72					G-protein coupled receptor protein signaling pathway|cell-cell signaling	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						TTCGTTTTCTTCTTCCCTGAT	0.532000														71			65		0	0	0.048971	0	0
ANO3	63982	broad.mit.edu	37	11	26463504	26463504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:26463504C>T	uc001mqt.4	+	1	231	c.86C>T	c.(85-87)tCg>tTg	p.S29L	ANO3_uc010rdr.2_Missense_Mutation_p.S13L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	29						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAAGAAACTTCGTTAAAACCG	0.413000														100			49		0	0	0.048971	0	0
UIMC1	51720	broad.mit.edu	37	5	176332391	176332391	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:176332391G>A	uc021yil.1	-	14	2219	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	UIMC1_uc021yim.1_Silent_p.S684S|UIMC1_uc021yin.1_Silent_p.S684S|UIMC1_uc003mfd.2_Silent_p.S314S	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	684					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTGAAATGGAAACAAAAG	0.483000														49			41		0	0	0.086207	0	0
KIF20B	9585	broad.mit.edu	37	10	91497763	91497763	+	Silent	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:91497763T>C	uc001kgs.1	+	19	3237	c.3165T>C	c.(3163-3165)tcT>tcC	p.S1055S	KIF20B_uc001kgr.1_Silent_p.S1015S|KIF20B_uc001kgt.1_Silent_p.S266S|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1055					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTTCCACTCTAGTATTGAAG	0.333000														36			62		0	0	0.048971	0	0
CNTN5	53942	broad.mit.edu	37	11	99872807	99872807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:99872807C>T	uc001pga.3	+	8	1423	c.919C>T	c.(919-921)Cct>Tct	p.P307S	CNTN5_uc009ywv.2_Missense_Mutation_p.P307S|CNTN5_uc001pfz.3_Missense_Mutation_p.P307S|CNTN5_uc021qpb.1_Missense_Mutation_p.P307S|CNTN5_uc021qpc.1_Missense_Mutation_p.P233S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	307	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.P307S(6)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGTCCATTTTCCTTTCACGGT	0.338000														5			20		0	0	0.083992	0	0
EXTL1	2134	broad.mit.edu	37	1	26349709	26349709	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:26349709G>C	uc001blf.3	+	0	1439	c.572G>C	c.(571-573)cGg>cCg	p.R191P		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	191					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GACTCCTTCCGGCCCGGCTTT	0.682000														49			16		0	0	0.028581	0	0
ENOX1	55068	broad.mit.edu	37	13	43788171	43788171	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:43788171T>A	uc001uza.4	-	16	2187	c.1887A>T	c.(1885-1887)gaA>gaT	p.E629D	ENOX1_uc001uzc.4_Missense_Mutation_p.E629D|ENOX1_uc001uzb.4_Missense_Mutation_p.E629D	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	629					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCATCTTTTTTCCAGCGTGG	0.453000														62			33		0	0	0.041601	0	0
TEX10	54881	broad.mit.edu	37	9	103109085	103109085	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:103109085T>C	uc004bas.3	-	2	999	c.784A>G	c.(784-786)Agc>Ggc	p.S262G	TEX10_uc011lvf.2_Missense_Mutation_p.S101G|TEX10_uc011lvg.2_Missense_Mutation_p.S265G|TEX10_uc011lvh.1_Missense_Mutation_p.S197G	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	262						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGGAGTTGCTAGTGGCATGG	0.448000														52			88		0	0	0.048971	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413621	105413621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:105413621C>T	uc010axc.1	-	6	8287	c.8167G>A	c.(8167-8169)Gag>Aag	p.E2723K	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E2623K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2723						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGGCTCCCTCGGGAACGTGG	0.607000														49			109		0	0	0.048971	0	0
OR4N5	390437	broad.mit.edu	37	14	20612149	20612149	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:20612149C>T	uc010tla.2	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGTGGACTTCCTCTCTGAGA	0.498000														60			94		0	0	0.048971	0	0
COL9A1	1297	broad.mit.edu	37	6	70944589	70944589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:70944589G>A	uc003pfg.4	-	33	2326	c.2167C>T	c.(2167-2169)Cct>Tct	p.P723S	COL9A1_uc003pfe.4_Missense_Mutation_p.P272S|COL9A1_uc003pff.4_Missense_Mutation_p.P480S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	723	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCACTCCAGGAAGCCCCCGA	0.612000														10			27		0	0	0.034045	0	0
KDM2B	84678	broad.mit.edu	37	12	121878775	121878776	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:121878775_121878776GG>AA	uc001uat.3	-	20	3557_3558	c.3453_3454CC>TT	c.(3451-3456)ctccgg>ctTTgg	p.R1152W	KDM2B_uc010szy.2_Missense_Mutation_p.R592W|KDM2B_uc001uaq.3_Missense_Mutation_p.R592W|KDM2B_uc001uar.3_Missense_Mutation_p.R743W|KDM2B_uc001uas.3_Missense_Mutation_p.R1083W|KDM2B_uc021rfd.1_Missense_Mutation_p.R1083W|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.R1152W|KDM2B_uc001uao.3_Missense_Mutation_p.R400W|KDM2B_uc010szx.2_Missense_Mutation_p.R400W|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1152					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACCAAGTCCCGGAGCCCTGGGG	0.653000														31			25		0	0	0.004672	0	0
CCDC108	255101	broad.mit.edu	37	2	219870876	219870876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:219870876C>T	uc002vjl.1	-	30	4873	c.4789G>A	c.(4789-4791)Gag>Aag	p.E1597K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1597						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACACCTCCTCCTTTGGGGTC	0.617000														74			25		0	0	0.099896	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351253	47351253	+	RNA	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:47351253G>A	uc001cqo.1	-	3		c.408C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		ACAAGTCCTCGACCTTATGAA	0.448000														38			23		0	0	0.091800	0	0
FAM151A	338094	broad.mit.edu	37	1	55075158	55075158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:55075158G>A	uc001cxn.3	-	7	1673	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	ACOT11_uc001cxj.2_3'UTR|ACOT11_uc001cxl.2_3'UTR|ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	514						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGCAGCATGGCCTGCATCTG	0.642000														111			44		0	0	0.045515	0	0
ANP32D	23519	broad.mit.edu	37	12	48866489	48866489	+	Silent	SNP	G	A	A	rs150593500	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:48866489G>A	uc010slt.2	+	0	42	c.42G>A	c.(40-42)agG>agA	p.R14R		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	14										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGCGGAACAGGACGCCCTCCG	0.463000														67			15		0	0	0.024245	0	0
PREX2	80243	broad.mit.edu	37	8	69012065	69012065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:69012065C>T	uc003xxv.1	+	22	2729	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F	PREX2_uc003xxu.1_Missense_Mutation_p.S901F|PREX2_uc011lez.1_Missense_Mutation_p.S836F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	901					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGAGAATATCCAGTTATAAA	0.284000														44			31		0	0	0.045705	0	0
ADAM28	10863	broad.mit.edu	37	8	24209517	24209517	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:24209517C>T	uc003xdy.3	+	20	2279	c.2196C>T	c.(2194-2196)ccC>ccT	p.P732P	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.P419P	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	732					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGATGAAGCCCCATGTGTATG	0.373000														46			25		0	0	0.034045	0	0
SNAP91	9892	broad.mit.edu	37	6	84292025	84292025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:84292025G>A	uc021zcf.1	-	21	2095	c.2065C>T	c.(2065-2067)Cag>Tag	p.Q689*	SNAP91_uc011dzd.2_Nonsense_Mutation_p.Q192*|SNAP91_uc003pka.3_Nonsense_Mutation_p.Q687*|SNAP91_uc011dze.2_Nonsense_Mutation_p.Q687*|SNAP91_uc003pkc.3_Nonsense_Mutation_p.Q659*|SNAP91_uc003pkd.3_Nonsense_Mutation_p.Q382*|SNAP91_uc003pkb.3_Nonsense_Mutation_p.Q598*	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	689					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGGTTATTCTGAGCTGGAGTC	0.463000														13			26		0	0	0.083992	0	0
FAT3	120114	broad.mit.edu	37	11	92086741	92086741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:92086741G>A	uc001pdj.4	+	0	1480	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	488	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCCAGTGGGAACCAGCGTT	0.418000										TCGA Ovarian(4;0.039)				371			229		0	0	0.048971	0	0
GPR20	2843	broad.mit.edu	37	8	142367271	142367271	+	Silent	SNP	G	A	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:142367271G>A	uc022bby.1	-	0	753	c.753C>T	c.(751-753)ctC>ctT	p.L251L	GPR20_uc003ywf.3_Silent_p.L251L	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	251						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGAAGCAGACGAGAAAGATGA	0.677000														12			8		0	0	0.047766	0	0
SLC25A18	83733	broad.mit.edu	37	22	18069942	18069942	+	Silent	SNP	C	T	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:18069942C>T	uc002zmp.1	+	7	944	c.450C>T	c.(448-450)tcC>tcT	p.S150S	SLC25A18_uc010gqx.3_Silent_p.S150S|SLC25A18_uc002zmq.1_Silent_p.S150S	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	150						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CCTCCACCTCCAGGTCCTACA	0.617000														130			58		0	0	0.048971	0	0
KRT84	3890	broad.mit.edu	37	12	52779113	52779113	+	Missense_Mutation	SNP	C	T	T	rs145766018	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:52779113C>T	uc001sah.1	-	0	305	c.257G>A	c.(256-258)gGt>gAt	p.G86D		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	86	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACCAAAACCCATCCCACA	0.592000														49			45		0	0	0.048971	0	0
CELA3B	23436	broad.mit.edu	37	1	22310316	22310319	+	Frame_Shift_Del	DEL	TCTC	-	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:22310316_22310319delTCTC	uc001bfk.3	+	4	607_610	c.492_495delTCTC	c.(490-495)cgtctcfs	p.R164fs	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	164	Peptidase S1.			R -> P (in Ref. 5; AAA36482).	cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTGGGGCCGTCTCTATAGTACGT	0.618													---	99	---	---	57	---					
DIRC2	84925	broad.mit.edu	37	3	122525730	122525733	+	Frame_Shift_Del	DEL	TCCT	-	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:122525730_122525733delTCCT	uc003efw.4	+	1	509_512	c.370_373delTCCT	c.(370-375)tccttcfs	p.S124fs	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Intron	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	124					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCTCCTGACATCCTTCCTTATGGT	0.328													---	54	---	---	23	---					
MBNL1	4154	broad.mit.edu	37	3	152018127	152018128	+	Frame_Shift_Ins	INS	-	GAGT	GAGT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:152018127_152018128insGAGT	uc003ezm.3	+	0	934_935	c.145_146insGAGT	c.(145-147)cgafs	p.R49fs	MBNL1_uc003ezh.3_Frame_Shift_Ins_p.R49fs|MBNL1_uc003ezi.3_Frame_Shift_Ins_p.R49fs|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezl.3_Frame_Shift_Ins_p.R49fs|MBNL1_uc003ezp.3_Frame_Shift_Ins_p.R49fs|MBNL1_uc003ezn.3_Frame_Shift_Ins_p.R49fs|MBNL1_uc003ezo.3_Frame_Shift_Ins_p.R49fs|MBNL1_uc003ezk.1_Non-coding_Transcript	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	49					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGAAAATGGACGAGTAATCGCC	0.406													---	76	---	---	35	---					
LMNB1	4001	broad.mit.edu	37	5	126145890	126145891	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:126145890_126145891insG	uc003kud.2	+	3	1547_1548	c.661_662insG	c.(661-663)aggfs	p.R221fs	LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_Frame_Shift_Ins_p.R11fs	NM_005573	NP_001185486	P20700	LMNB1_HUMAN	Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA.	221	Linker 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CGAGACCAGAAGGAAGCATGAA	0.465													---	69	---	---	40	---					
HLA-A	3105	broad.mit.edu	37	6	29911319	29911319	+	Splice_Site	DEL	G	-	-	rs115073453	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:29911319delG	uc003nol.3	+	3	703	c.619_splice	c.e3+1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc021yua.1_3'UTR|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGCAGCGCACGGGTACCAGGG	0.637									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			---	69	---	---	17	---					
CTSL1P8	1518	broad.mit.edu	37	9	90462224	90462224	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:90462224delC	uc022bje.1	+	2	454	c.375delC	c.(373-375)tacfs	p.Y125fs						Homo sapiens cathepsin L1 pseudogene 8 (CTSL1P8), non-coding RNA.																		CAGCCAGCTACCCAACTGTGT	0.527													---	4	---	---	2	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	97	---	---	9	---					
DDX3X	1654	broad.mit.edu	37	X	41203282	41203282	+	Splice_Site	DEL	G	-	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:41203282delG	uc004dfe.3	+	9	1621	c.766_splice	c.e9-1	p.E256_splice	DDX3X_uc010nhf.1_Splice_Site_p.E240_splice|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Splice_Site_p.E256_splice|DDX3X_uc011mkq.2_Splice_Site_p.E240_splice|DDX3X_uc011mkr.2_Splice_Site_p.E256_splice|DDX3X_uc004dfg.3_Splice_Site|DDX3X_uc011mkt.1_Splice_Site	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	256	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTATTTCTTAGGAAAATGGAA	0.373										HNSCC(61;0.18)			---	2	---	---	4	---